ID

45134

Description

This study contains a single codelist containing all english HPO terms. This service/product uses the Human Phenotype Ontology (Version 1.2). Find out more at http://www.human-phenotype-ontology.org. Please cite the following, when making use: Sebastian Köhler, Michael Gargano, Nicolas Matentzoglu, Leigh C Carmody, David Lewis-Smith, Nicole A Vasilevsky, Daniel Danis, Ganna Balagura, Gareth Baynam, Amy M Brower, Tiffany J Callahan, Christopher G Chute, Johanna L Est, Peter D Galer, Shiva Ganesan, Matthias Griese, Matthias Haimel, Julia Pazmandi, Marc Hanauer, Nomi L Harris, Michael J Hartnett, Maximilian Hastreiter, Fabian Hauck, Yongqun He, Tim Jeske, Hugh Kearney, Gerhard Kindle, Christoph Klein, Katrin Knoflach, Roland Krause, David Lagorce, Julie A McMurry, Jillian A Miller, Monica C Munoz-Torres, Rebecca L Peters, Christina K Rapp, Ana M Rath, Shahmir A Rind, Avi Z Rosenberg, Michael M Segal, Markus G Seidel, Damian Smedley, Tomer Talmy, Yarlalu Thomas, Samuel A Wiafe, Julie Xian, Zafer Yüksel, Ingo Helbig, Christopher J Mungall, Melissa A Haendel, Peter N Robinson, The Human Phenotype Ontology in 2021, Nucleic Acids Research, Volume 49, Issue D1, 8 January 2021, Pages D1207–D1217, https://doi.org/10.1093/nar/gkaa1043

Link

Human Phenotype Ontology

Keywords

10/7/22 10/7/22 - Dr. Christian Niklas

Copyright Holder

Human Phenotype Ontology Consortium

Uploaded on

October 7, 2022

DOI

To request one please log in.

License

Creative Commons BY 4.0

Model comments :

You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.

Back to model comments

Itemgroup comments for :

Item comments for :

In order to download data models you must be logged in. Please log in or register for free.

HPO Terms codelist

model
Details

Form HPO Terms

1 forms

StudyEvent: StudyEvent HPO Terms
1. Form HPO Terms

Itemgroup HPO Terms

Description

Itemgroup HPO Terms

HPO Term

Description

HPO Term

Data type

text

Hyperextensibility of the finger joints (HP:0001187)

Portosystemic collateral veins (HP:0025154)

Transient (HP:0025153)

Poor visual behavior for age (HP:0025152)

Hand clenching (HP:0001188)

Ganglioneuromatosis (HP:0025151)

Hyperautofluorescent retinal lesion (HP:0025158)

Tapered finger (HP:0001182)

Increased urinary sedoheptulose (HP:0025157)

Dependency on intravenous nutrition (HP:0025156)

Abnormality of hepatobiliary system physiology (HP:0025155)

Adducted thumb (HP:0001181)

Hand oligodactyly (HP:0001180)

Hypoganglionosis (HP:0025150)

Sclerosis of hallux phalanx (HP:0100930)

Sclerosis of the proximal phalanx of the 4th toe (HP:0100933)

Sclerosis of the proximal phalanx of the 5th toe (HP:0100934)

Sclerosis of the proximal phalanx of the 2nd toe (HP:0100931)

Sclerosis of the proximal phalanx of the 3rd toe (HP:0100932)

Sclerosis of the middle phalanx of the 4th toe (HP:0100937)

Sclerosis of the middle phalanx of the 5th toe (HP:0100938)

Sclerosis of the middle phalanx of the 2nd toe (HP:0100935)

Atrophic muscularis propria (HP:0025149)

Dark choroid (HP:0025148)

Sclerosis of the middle phalanx of the 3rd toe (HP:0100936)

Sclerosis of the distal phalanx of the 2nd toe (HP:0100939)

Chills (HP:0025143)

Abnormality of prenatal development or birth (HP:0001197)

Constitutional symptom (HP:0025142)

Gingival calcification (HP:0025141)

Triphalangeal thumb (HP:0001199)

Decreased serum estrone (HP:0025140)

Abnormalities of placenta or umbilical cord (HP:0001194)

Beaten bronze macular sheen (HP:0025147)

Ulnar deviation of the hand or of fingers of the hand (HP:0001193)

Foveal degeneration (HP:0025146)

Short umbilical cord (HP:0001196)

Rigors (HP:0025145)

Single umbilical artery (HP:0001195)

Shivering (HP:0025144)

Abnormal carpal morphology (HP:0001191)

Sclerosis of the distal phalanx of the 3rd toe (HP:0100940)

Sclerosis of the distal phalanx of the 4th toe (HP:0100941)

Sclerosis of the distal phalanx of the hallux (HP:0100944)

Sclerosis of the 1st metatarsal (HP:0100945)

Sclerosis of the distal phalanx of the 5th toe (HP:0100942)

Sclerosis of the proximal phalanx of the hallux (HP:0100943)

Sclerosis of distal toe phalanx (HP:0100948)

Increased serum estrone (HP:0025139)

Sclerosis of proximal toe phalanx (HP:0100946)

Abnormal serum estrone (HP:0025138)

Sclerosis of middle toe phalanx (HP:0100947)

Decreased serum estriol (HP:0025137)

Spastic ataxia (HP:0002497)

Abnormal circulating estrogen level (HP:0025132)

Finger swelling (HP:0025131)

Abnormality of finger (HP:0001167)

Impaired vibratory sensation (HP:0002495)

Decreased small intestinal mucosa lactase level (HP:0025130)

Arachnodactyly (HP:0001166)

Hand polydactyly (HP:0001161)

Upper motor neuron dysfunction (HP:0002493)

Increased serum estriol (HP:0025136)

Abnormal rapid eye movement sleep (HP:0002494)

Abnormal serum estriol (HP:0025135)

Abnormality of the metacarpal bones (HP:0001163)

Spasticity of facial muscles (HP:0002491)

Increased serum estradiol (HP:0025134)

Postaxial hand polydactyly (HP:0001162)

Morphological abnormality of the corticospinal tract (HP:0002492)

Abnormal serum estradiol (HP:0025133)

Increased CSF lactate (HP:0002490)

Enlarged fossa interpeduncularis (HP:0100951)

Enlarged sylvian cistern (HP:0100952)

Decreased 3-hydroxyacyl-CoA dehydrogenase level (HP:0100950)

Giant cell granuloma of mandible (HP:0100955)

Enlarged interhemispheric fissure (HP:0100953)

Open operculum (HP:0100954)

Abnormal small intestinal mucosa morphology (HP:0025129)

Dense metaphyseal bands (HP:0100959)

Reduced intraabdominal adipose tissue (HP:0025128)

Abnormal renal medulla morphology (HP:0100957)

Actinic keratosis (HP:0025127)

Oral hairy leukoplakia (HP:0025126)

Narrow foramen obturatorium (HP:0100958)

Acute leukemia (HP:0002488)

Syndactyly (HP:0001159)

Large hands (HP:0001176)

obsolete Simple partial occipital seizures (HP:0025121)

Ulnar claw (HP:0001178)

Preaxial hand polydactyly (HP:0001177)

Abnormal thumb morphology (HP:0001172)

White lesion of the oral mucosa (HP:0025125)

Split hand (HP:0001171)

Fragile teeth (HP:0025124)

White streaks/specks on enamel. (HP:0025123)

Sawtooth acanthosis (HP:0025122)

Shyness (HP:0100962)

Hyperesthesia (HP:0100963)

Lateral ventricular asymmetry (HP:0100960)

Enlarged hippocampus (HP:0100961)

Lip discoloration (HP:0025118)

Rete ridge flattening (HP:0025117)

Fetal distress (HP:0025116)

Civatte bodies (HP:0025115)

Broad palm (HP:0001169)

Violet lip discoloration (HP:0025119)

Myelomeningocele (HP:0002475)

Placoid macular lesion (HP:0025110)

Lenticonus (HP:0001142)

Primitive reflex (HP:0002476)

obsolete Chorioretinopathy (HP:0001145)

Orbital cyst (HP:0001144)

Expressive language delay (HP:0002474)

Hypergranulosis (HP:0025114)

Small cerebral cortex (HP:0002472)

Misophonia (HP:0025113)

Severely reduced visual acuity (HP:0001141)

Sound sensitivity (HP:0025112)

Limbal dermoid (HP:0001140)

Nonprogressive cerebellar ataxia (HP:0002470)

Cutis marmorata telangiectatica congenita (HP:0025107)

Choroideremia (HP:0001139)

Nevus roseus (HP:0025106)

Nevus anemicus (HP:0025105)

Capillary malformation (HP:0025104)

Retinal arteriolar tortuosity (HP:0001136)

Marked delay in bone age (HP:0003799)

Chorioretinal dystrophy (HP:0001135)

Optic neuropathy (HP:0001138)

Limb-girdle muscle atrophy (HP:0003797)

Reduced red cell pyruvate kinase level (HP:0025109)

Alternating esotropia (HP:0001137)

Nemaline bodies (HP:0003798)

Angioma serpentinum (HP:0025108)

Myotonia (HP:0002486)

Septate vagina (HP:0001153)

Hyperkinetic movements (HP:0002487)

Brachydactyly (HP:0001156)

Abnormality of the hand (HP:0001155)

obsolete Choroidal sclerosis (HP:0001150)

Umbilicated nodule (HP:0025103)

Bulbar signs (HP:0002483)

Dysgenesis of the basal ganglia (HP:0025102)

Saccadic smooth pursuit (HP:0001152)

Hepatic encephalopathy (HP:0002480)

Dysgenesis of the hippocampus (HP:0025101)

Impaired horizontal smooth pursuit (HP:0001151)

Abnormal hippocampus morphology (HP:0025100)

Sclerosis of the distal phalanx of the 2nd finger (HP:0100900)

Sclerosis of the distal phalanx of the 3rd finger (HP:0100901)

Sclerosis of the middle phalanx of the 2nd finger (HP:0100904)

Sclerosis of the middle phalanx of the 3rd finger (HP:0100905)

Sclerosis of the distal phalanx of the 4th finger (HP:0100902)

Sclerosis of the distal phalanx of the 5th finger (HP:0100903)

Retinal exudate (HP:0001147)

Sclerosis of the proximal phalanx of the 2nd finger (HP:0100908)

obsolete Pigmentary retinal degeneration (HP:0001146)

Sclerosis of the proximal phalanx of the 3rd finger (HP:0100909)

Lattice corneal dystrophy (HP:0001149)

Sclerosis of the middle phalanx of the 4th finger (HP:0100906)

Progressive spastic quadriplegia (HP:0002478)

Sclerosis of the middle phalanx of the 5th finger (HP:0100907)

Abnormal globus pallidus morphology (HP:0002453)

Type 1 collagen overmodification (HP:0003784)

Abnormality of corneal size (HP:0001120)

Eye of the tiger anomaly of globus pallidus (HP:0002454)

Decreased CSF homovanillic acid concentration (HP:0003785)

Visual field defect (HP:0001123)

Limb dystonia (HP:0002451)

Eunuchoid habitus (HP:0003782)

obsolete Aplasia/Hypoplasia of the choroid (HP:0001122)

Externally rotated/abducted legs (HP:0003783)

Abnormal motor neuron morphology (HP:0002450)

Excessive salivation (HP:0003781)

Sclerosis of the proximal phalanx of the 5th finger (HP:0100911)

Sclerosis of the distal phalanx of the thumb (HP:0100912)

Sclerosis of the proximal phalanx of the 4th finger (HP:0100910)

Juvenile cataract (HP:0001118)

Sclerosis of distal finger phalanx (HP:0100915)

Sudden loss of visual acuity (HP:0001117)

Sclerosis of middle finger phalanx (HP:0100916)

Progressive encephalopathy (HP:0002448)

Antegonial notching of mandible (HP:0003779)

Sclerosis of the proximal phalanx of the thumb (HP:0100913)

Keratoglobus (HP:0001119)

Sclerosis of the 1st metacarpal (HP:0100914)

Xanthelasma (HP:0001114)

Astrocytosis (HP:0002446)

Pili torti (HP:0003777)

Sclerosis of 3rd finger phalanx (HP:0100919)

obsolete Early cataracts (HP:0001113)

Short mandibular rami (HP:0003778)

Macular coloboma (HP:0001116)

Hypothalamic hamartoma (HP:0002444)

Sclerosis of proximal finger phalanx (HP:0100917)

Posterior polar cataract (HP:0001115)

Tetraplegia (HP:0002445)

Sclerosis of 2nd finger phalanx (HP:0100918)

Lens subluxation (HP:0001132)

Spastic dysarthria (HP:0002464)

Short middle phalanx of toe (HP:0003795)

Corneal dystrophy (HP:0001131)

Poor speech (HP:0002465)

Irregular iliac crest (HP:0003796)

Anterior polar cataract (HP:0001134)

Language impairment (HP:0002463)

Constriction of peripheral visual field (HP:0001133)

Distal muscle weakness (HP:0002460)

Deposits immunoreactive to beta-amyloid protein (HP:0003791)

Dense calcifications in the cerebellar dentate nucleus (HP:0002461)

Sclerosis of thumb phalanx (HP:0100922)

Clavicular sclerosis (HP:0100923)

Sclerosis of 4th finger phalanx (HP:0100920)

Sclerosis of 5th finger phalanx (HP:0100921)

Large central visual field defect (HP:0001129)

Sclerosis of 2nd toe phalanx (HP:0100926)

Trichiasis (HP:0001128)

Sclerosis of 3rd toe phalanx (HP:0100927)

obsolete Dysautonomia (HP:0002459)

Sclerosis of toe phalanx (HP:0100924)

Sclerosis of foot bone (HP:0100925)

Transient unilateral blurring of vision (HP:0001125)

Abnormal head movements (HP:0002457)

Minicore myopathy (HP:0003789)

Sclerosis of 4th toe phalanx (HP:0100928)

Cryptophthalmos (HP:0001126)

Type 1 and type 2 muscle fiber minicore regions (HP:0003787)

Sclerosis of 5th toe phalanx (HP:0100929)

Increased CSF urate concentration (HP:0410199)

Increased uridine diphosphate glucose-4-epimerase level in red blood cells (HP:0410197)

Decreased uridine diphosphate glucose-4-epimerase level in red blood cells (HP:0410198)

Decreased uridine diphosphate glucose-4-epimerase level in plasma (HP:0410195)

Abnormal uridine diphosphate glucose-4-epimerase level in red blood cells (HP:0410196)

Abnormal uridine diphosphate glucose-4-epimerase level in plasma (HP:0410193)

Increased uridine diphosphate glucose-4-epimerase level in plasma (HP:0410194)

Increased glucose-6-phosphate dehydrogenase level in leukocytes (HP:0410191)

Abnormal uridine diphosphate glucose-4-epimerase level (HP:0410192)

Decreased glucose-6-phosphate dehydrogenase level in leukocytes (HP:0410190)

Inflammatory cap polyp (HP:0025198)

Abnormality of the back musculature (HP:0410168)

Inclusion body fibromatosis (HP:0025197)

Abnormal morphology of the shoulder musculature (HP:0410169)

Increased total iron binding capacity (HP:0025196)

Defective interstrand cross-link repair (HP:0410166)

Central diaphragmatic hernia (HP:0025195)

Abnormal morphology of the chest musculature (HP:0410167)

Bilateral tonic-clonic seizure with generalized onset (HP:0025190)

Morgagni diaphragmatic hernia (HP:0025194)

Posterolateral diaphragmatic hernia (HP:0025193)

Subtentorial periventricular white matter hyperdensity (HP:0025192)

obsolete Segmental myoclonic seizures (HP:0025191)

Increased level of N-acetylneuraminic acid in fibroblasts (HP:0410157)

Marcus Gunn jaw winking synkinesis (HP:0025186)

Increased urine O-phosphoethanolamine level (HP:0410158)

Increased level of N-acetylneuraminic acid in urine (HP:0410156)

Increased level of methylsuccinic acid in urine (HP:0410153)

Increased level of myristic acid in serum (HP:0410154)

Eosinophilic infiltration of the esophagus (HP:0410151)

Retinal vasculitis (HP:0025188)

Eosinophilic microabscess formation in the esophagus (HP:0410152)

Localized area of pendulous skin (HP:0025182)

Abdominal aseptic abscess (HP:0025181)

Centrilobular ground-glass opacification on pulmonary HRCT (HP:0025180)

Idiopathic anaphylaxis (HP:0410148)

Drug-induced anaphylaxis (HP:0410149)

Intralobular interstitial thickening (HP:0025176)

Honeycomb lung (HP:0025175)

Irregular septal thickening on pulmonary HRCT (HP:0025174)

Decreased glucose-6-phosphate dehydrogenase level in red blood cells (HP:0410188)

Nodular septal thickening on pulmonary HRCT (HP:0025173)

Increased glucose-6-phosphate dehydrogenase level in red blood cells (HP:0410189)

Increased glucose-6-phosphate dehydrogenase level in tissue (HP:0410186)

Ground-glass opacification (HP:0025179)

Decreased glucose-6-phosphate dehydrogenase level in tissue (HP:0410187)

Subpleural interstitial thickening (HP:0025178)

Abnormal glucose-6-phosphate dehydrogenase level in red blood cells (HP:0410184)

Peribronchovascular interstitial thickening (HP:0025177)

Abnormal glucose-6-phosphate dehydrogenase level in tissue (HP:0410185)

Decreased glucose-6-phosphate dehydrogenase level in dried blood spot (HP:0410182)

Abnormal glucose-6-phosphate dehydrogenase level in leukocytes (HP:0410183)

Abnormal glucose-6-phosphate dehydrogenase level in dried blood spot (HP:0410180)

Increased glucose-6-phosphate dehydrogenase level in dried blood spot (HP:0410181)

Smooth septal thickening on pulmonary HRCT (HP:0025172)

Rosette-forming glioneuronal tumor (HP:0025171)

Neuronal/glioneuronal neoplasm of the central nervous system (HP:0025170)

Clumping of elastic fibers in the dermis (HP:0025165)

Decreased glucose-6-phosphate dehydrogenase level in blood (HP:0410179)

Increased number of elastic fibers in the dermis (HP:0025164)

Abnormality of optic chiasm morphology (HP:0025163)

Abnormal glucose-6-phosphate dehydrogenase level in blood (HP:0410177)

Severe temper tantrums (HP:0025162)

Increased glucose-6-phosphate dehydrogenase level in blood (HP:0410178)

Left ventricular systolic dysfunction (HP:0025169)

Hyperketonemia (HP:0410175)

Left ventricular diastolic dysfunction (HP:0025168)

Abnormal glucose-6-phosphate dehydrogenase level (HP:0410176)

Fragmented elastic fibers in the dermis (HP:0025167)

Increased circulating troponin I concentration (HP:0410173)

Thickened elastic fibers in the dermis (HP:0025166)

Increased circulating troponin T concentration (HP:0410174)

Increased cotinine level (HP:0410171)

Blood xenobiotic (HP:0410172)

Hippocampal atrophy (HP:0410170)

Frequent temper tantrums (HP:0025161)

Abnormal temper tantrums (HP:0025160)

Hypoautofluorescent retinal lesion (HP:0025159)

Decreased circulating IgD (HP:0410245)

Increased circulating IgD level (HP:0410246)

Abnormal circulating IgM level (HP:0410243)

Abnormal circulating IgD level (HP:0410244)

Abnormal circulating IgE level (HP:0410241)

Abnormal circulating IgG level (HP:0410242)

Abnormal circulating IgA level (HP:0410240)

Increased anti-plant product IgE antibody level (HP:0410238)

Positive urine norcotinine test (HP:0410239)

Increased anti-venom IgE antibody level (HP:0410236)

Increased anti-parasite IgE antibody level (HP:0410234)

Increased anti-insect IgE antibody level (HP:0410235)

Increased anti-fungi IgE antibody level (HP:0410232)

Increased anti-meat allergen IgE antibody level (HP:0410233)

Increased anti-nut food product IgE antibody level (HP:0410230)

Increased anti-egg IgE antibody level (HP:0410231)

Increased anti-gluten IgE antibody level (HP:0410229)

Increased anti-food allergen IgE antibody level (HP:0410227)

Increased anti-plant based food allergen IgE antibody level (HP:0410228)

Increased anti-drug IgE antibody level (HP:0410225)

Increased anti-feather IgE antibody level (HP:0410226)

Intestinal hemangioma (HP:0410267)

Spleen hemangioma (HP:0410268)

Supraglottic hemangioma (HP:0410265)

Visceral hemangioma (HP:0410266)

Brain imaging abnormality (HP:0410263)

Subglottic hemangioma (HP:0410264)

Wide space between 4th and 5th toe (HP:0410261)

Lower cranial nerve dysfunction (HP:0410262)

Asymmetrical gluteal crease (HP:0410260)

Neutrophilia in absence of infection (HP:0410258)

Hepatopulmonary fusion (HP:0410259)

Infection associated neutropenia (HP:0410256)

Neutrophilia in presence of infection (HP:0410257)

Cyclic neutropenia in myeloid maturation arrest in bone marrow (HP:0410254)

Transient neutropenia (HP:0410255)

Chronic neutropenia (HP:0410252)

Myeloid maturation arrest (HP:0410253)

Abnormal L-selectin shedding (HP:0410251)

Increased anti-alpha-gal IgE antibody level (HP:0410249)

Increased anti-animal dander IgE antibody level (HP:0410247)

Increased anti-house dust mite IgE antibody level (HP:0410248)

Positive hair barbiturate test (HP:0410201)

Positive stool barbiturate test (HP:0410202)

Positive meconium barbiturate test (HP:0410200)

Increased anti-dust mite IgE antibody level (HP:0410223)

Increased anti-bacteria IgE antibody level (HP:0410224)

Increased anti-animal protein IgE antibody level (HP:0410221)

Increased anti-seafood IgE antibody level (HP:0410222)

Increased anti-dairy protein IgE antibody level (HP:0410220)

Hypoplasia of maxilla relative to mandible (HP:0410218)

Hypoplasia of mandible relative to maxilla (HP:0410219)

Abnormal blood 5-methyltetrahydrofolate level (HP:0410216)

Reduced blood 5-methyltetrahydrofolate level (HP:0410217)

Hypercapnia in cord blood (HP:0410214)

Hypocapnia in cord blood (HP:0410215)

Hyperoxemia in cord blood (HP:0410212)

Hypoxemia in cord blood (HP:0410213)

Abnormal cord blood measurement (HP:0410210)

Abnormal blood gas level in cord blood (HP:0410211)

Folate deficiency in CSF (HP:0410209)

Positive methadone plasma/serum test (HP:0410207)

Positive plasma/serum cotinine test (HP:0410208)

Abnormal circulating nicotinurate concentration (HP:0410205)

Increased circulating nicotinurate level (HP:0410206)

Positive gastric fluid barbiturate test (HP:0410203)

Increased intestinal transit time (HP:0410204)

Uterus didelphys (HP:0003762)

Bruxism (HP:0003763)

Iritis (HP:0001101)

Percussion-induced rapid rolling muscle contractions (HP:0003760)

Heterochromia iridis (HP:0001100)

Calcinosis (HP:0003761)

Hypoplasia of lymphatic vessels (HP:0003759)

Expressive aphasia (HP:0002427)

Reduced subcutaneous adipose tissue (HP:0003758)

Type 1 fibers relatively smaller than type 2 fibers (HP:0003755)

Anarthria (HP:0002425)

Skeletal myopathy (HP:0003756)

Long-tract signs (HP:0002423)

Dyscalculia (HP:0002442)

Stage 5 chronic kidney disease (HP:0003774)

Leber optic atrophy (HP:0001112)

Pulp calcification (HP:0003771)

Ocular albinism (HP:0001107)

Frontolimbic dementia (HP:0002439)

Periorbital hyperpigmentation (HP:0001106)

Periodic paralysis (HP:0003768)

Cerebellar malformation (HP:0002438)

Abnormal macular morphology (HP:0001103)

Meningocele (HP:0002435)

Angioid streaks of the fundus (HP:0001102)

Occipital meningocele (HP:0002436)

Nevus (HP:0003764)

Retinal atrophy (HP:0001105)

Macular hypoplasia (HP:0001104)

Psoriasiform dermatitis (HP:0003765)

Myotonia with warm-up phenomenon (HP:0003740)

Aqueductal stenosis (HP:0002410)

Congenital muscular dystrophy (HP:0003741)

Cerebral arteriovenous malformation (HP:0002408)

Myoclonic spasms (HP:0003739)

Limb dysmetria (HP:0002406)

Mitochondrial myopathy (HP:0003737)

Exercise-induced myalgia (HP:0003738)

Thickened superior cerebellar peduncle (HP:0002404)

Autophagic vacuoles (HP:0003736)

Thigh hypertrophy (HP:0003733)

Positive Romberg sign (HP:0002403)

Quadriceps muscle weakness (HP:0003731)

Stroke-like episode (HP:0002401)

Poor head control (HP:0002421)

Episodic flaccid weakness (HP:0003752)

Increased muscle fatiguability (HP:0003750)

Molar tooth sign on MRI (HP:0002419)

Abnormal midbrain morphology (HP:0002418)

Pelvic girdle muscle weakness (HP:0003749)

Leukodystrophy (HP:0002415)

Subependymal cysts (HP:0002416)

Genetic anticipation with paternal anticipation bias (HP:0003744)

Spina bifida (HP:0002414)

Sporadic (HP:0003745)

Myokymia (HP:0002411)

Genetic anticipation (HP:0003743)

Muscle mounding (HP:0003719)

Minimal subcutaneous fat (HP:0003717)

Myofibrillar myopathy (HP:0003715)

Generalized muscular appearance from birth (HP:0003716)

Muscle fiber necrosis (HP:0003713)

Skeletal muscle hypertrophy (HP:0003712)

Exercise-induced muscle cramps (HP:0003710)

EMG: myotonic runs (HP:0003730)

Enteroviral dermatomyositis syndrome (HP:0003729)

Shoulder girdle muscle atrophy (HP:0003724)

Firm muscles (HP:0003725)

Neck flexor weakness (HP:0003722)

Generalized muscle hypertrophy (HP:0003720)

Calf muscle pseudohypertrophy (HP:0003707)

Scapuloperoneal weakness (HP:0003704)

Generalized amyotrophy (HP:0003700)

Proximal muscle weakness (HP:0003701)

Lateral (HP:0025275)

Ovarian dermoid cyst (HP:0025274)

Achilles tendonitis (HP:0025273)

Melasma (HP:0025272)

Migratory (HP:0025279)

Cold-induced sweating (HP:0025278)

Gustatory sweating (HP:0025277)

Abnormality of skin adnexa physiology (HP:0025276)

Esophageal spasms (HP:0025271)

Abnormal esophagus physiology (HP:0025270)

Halitosis (HP:0100812)

Testicular torsion (HP:0100813)

Pointed helix (HP:0100810)

Aplasia/Hypoplasia of the colon (HP:0100811)

Lip hyperpigmentation (HP:0100816)

Renovascular hypertension (HP:0100817)

Blue nevus (HP:0100814)

Panic attack (HP:0025269)

Long thorax (HP:0100818)

Intestinal fistula (HP:0100819)

Stiff ankle (HP:0025264)

Stiff knee (HP:0025263)

Stiff hip (HP:0025262)

Stiff finger (HP:0025261)

Stuttering (HP:0025268)

Snoring (HP:0025267)

obsolete Cervical osteoarthritis (HP:0025266)

Stiff toe (HP:0025265)

Stiff wrist (HP:0025260)

Glomerulopathy (HP:0100820)

Genital hernia (HP:0100823)

Urethrocele (HP:0100821)

Rectocele (HP:0100822)

Lymphocytosis (HP:0100827)

Increased T cell count (HP:0100828)

Stiff elbow (HP:0025259)

Cheilitis (HP:0100825)

Stiff neck (HP:0025258)

Neoplasm of the nail (HP:0100826)

Galactorrhea (HP:0100829)

Claustrophobia (HP:0025253)

Spastic tetraparesis (HP:0001285)

Geographic tongue (HP:0025252)

Gait disturbance (HP:0001288)

Open comedo (HP:0025251)

Meningitis (HP:0001287)

Closed comedo (HP:0025250)

Ameliorated by carbohydrate ingestion (HP:0025257)

Tetany (HP:0001281)

Ameliorated by heat (HP:0025256)

Areflexia (HP:0001284)

Ameliorated by pregnancy (HP:0025255)

Bulbar palsy (HP:0001283)

Ameliorated by (HP:0025254)

Round ear (HP:0100830)

Abnormality of vitamin K metabolism (HP:0100831)

Neoplasm of the large intestine (HP:0100834)

Benign neoplasm of the central nervous system (HP:0100835)

Vitreous floaters (HP:0100832)

Neoplasm of the small intestine (HP:0100833)

Recurrent cutaneous abscess formation (HP:0100838)

Comedo (HP:0025249)

Hepatic agenesis (HP:0100839)

Malignant neoplasm of the central nervous system (HP:0100836)

Eruptive vellus hair cyst (HP:0025248)

Dermoid cyst (HP:0025247)

Atrophodermia vermiculata (HP:0100837)

Syncope (HP:0001279)

Orthostatic hypotension (HP:0001278)

Stroke (HP:0001297)

Dot-and-blot retinal hemorrhage (HP:0025242)

Flame-shaped retinal hemorrhage (HP:0025241)

Preretinal hemorrhage (HP:0025240)

Encephalopathy (HP:0001298)

Cranial nerve compression (HP:0001293)

Trichilemmal cyst (HP:0025246)

Cutaneous cyst (HP:0025245)

Subretinal pigment epithelium hemorrhage (HP:0025244)

Subretinal hemorrhage (HP:0025243)

Abnormal cranial nerve morphology (HP:0001291)

Generalized hypotonia (HP:0001290)

Microgastria (HP:0100841)

Septo-optic dysplasia (HP:0100842)

Aplasia/Hypoplasia of the eyebrow (HP:0100840)

Anaphylactic shock (HP:0100845)

obsolete Glioblastoma (HP:0100843)

Pancreatic fistula (HP:0100844)

Subhyaloid hemorrhage (HP:0025239)

Neoplasm of the scrotum (HP:0100849)

Foot pain (HP:0025238)

Confusional arousal (HP:0025237)

Palmoplantar pustulosis (HP:0100847)

Neoplasm of the male external genitalia (HP:0100848)

Somnambulism (HP:0025236)

Confusion (HP:0001289)

Spastic diplegia (HP:0001264)

Abnormality of synovial bursa morphology (HP:0025231)

Global developmental delay (HP:0001263)

Abnormality of the vasculature (HP:0002597)

Tendonitis (HP:0025230)

Choreoathetosis (HP:0001266)

Pancreatic hypoplasia (HP:0002594)

Hyporeflexia (HP:0001265)

Ileus (HP:0002595)

Dysarthria (HP:0001260)

Gastric ulcer (HP:0002592)

Non-rapid eye movement parasomnia (HP:0025235)

Intestinal lymphangiectasia (HP:0002593)

Parasomnia (HP:0025234)

Excessive daytime somnolence (HP:0001262)

Paralytic ileus (HP:0002590)

Sleep paralysis (HP:0025233)

Polyphagia (HP:0002591)

Bursitis (HP:0025232)

Triggered by sudden movement (HP:0025228)

Triggered by excitement (HP:0025227)

Triggered by stress (HP:0025226)

Triggered by sound (HP:0025225)

Spasticity (HP:0001257)

Gastrointestinal atresia (HP:0002589)

Intellectual disability, mild (HP:0001256)

Coma (HP:0001259)

Projectile vomiting (HP:0002587)

Spastic paraplegia (HP:0001258)

Duodenal ulcer (HP:0002588)

Triggered by vestibular stimulation (HP:0025229)

Triggered by menstruation (HP:0025220)

Agenesis of corpus callosum (HP:0001274)

Hypertonia (HP:0001276)

Polyneuropathy (HP:0001271)

Triggered by sodium ingestion (HP:0025224)

Motor delay (HP:0001270)

Triggered by smoking (HP:0025223)

Abnormal corpus callosum morphology (HP:0001273)

Triggered by sleep deprivation (HP:0025222)

Cerebellar atrophy (HP:0001272)

Triggered by pregnancy (HP:0025221)

Triggered by high-fat diet (HP:0025217)

Triggered by heavy meal (HP:0025216)

Triggered by febrile illness (HP:0025215)

Triggered by heat (HP:0025214)

Mental deterioration (HP:0001268)

Triggered by vaccination (HP:0025219)

Hemiparesis (HP:0001269)

Head titubation (HP:0002599)

Triggered by hyperventilation (HP:0025218)

Episodic abdominal pain (HP:0002574)

Capitate-hamate fusion (HP:0001241)

Tracheoesophageal fistula (HP:0002575)

Episodic vomiting (HP:0002572)

Hematochezia (HP:0002573)

Steatorrhea (HP:0002570)

Triggered by galactose ingestion (HP:0025213)

Achalasia (HP:0002571)

Triggered by fasting (HP:0025212)

Triggered by ethanol ingestion (HP:0025211)

Triggered by glucose ingestion (HP:0025210)

Wrist flexion contracture (HP:0001239)

Triggered by cold (HP:0025206)

Slender finger (HP:0001238)

Triggered by breast feeding (HP:0025205)

Triggered by (HP:0025204)

Caput medusae (HP:0025203)

Large humeral epiphyses (HP:0003898)

Hitchhiker thumb (HP:0001234)

Round humeral epiphyses (HP:0003899)

Triggered by fructose ingestion (HP:0025209)

Irregular humeral epiphyses (HP:0003896)

Triggered by carbohydrate ingestion (HP:0025208)

Intestinal malrotation (HP:0002566)

Irregular ossification of the humeral epiphyses (HP:0003897)

Triggered by dehydration (HP:0025207)

Abnormality of the peritoneum (HP:0002585)

Hypotonia (HP:0001252)

Peritonitis (HP:0002586)

Colitis (HP:0002583)

Lethargy (HP:0001254)

Intestinal bleeding (HP:0002584)

Elevated circulating apolipoprotein A-IV concentration (HP:0025202)

Atrophic gastritis (HP:0002582)

Abnormal circulating apolipoprotein concentration (HP:0025201)

Ataxia (HP:0001251)

Muscle fiber actin filament accumulation (HP:0025200)

Seizure (HP:0001250)

Volvulus (HP:0002580)

Pancreatic aplasia (HP:0100801)

Malposition of the stomach (HP:0100802)

Aplasia/Hypoplasia of the pancreas (HP:0100800)

obsolete Precocious menopause (HP:0100805)

Intellectual disability (HP:0001249)

Sepsis (HP:0100806)

Abnormality of the periungual region (HP:0100803)

Ungual fibroma (HP:0100804)

Gastroparesis (HP:0002578)

Scalp tenderness (HP:0100809)

Small thenar eminence (HP:0001245)

Gastrointestinal dysmotility (HP:0002579)

Long fingers (HP:0100807)

Short tubular bones of the hand (HP:0001248)

Intussusception (HP:0002576)

Abnormal stomach morphology (HP:0002577)

Gastric diverticulum (HP:0100808)

Rectal polyposis (HP:0100896)

Broad xiphoid process (HP:0100894)

Connective tissue nevi (HP:0100898)

Sclerosis of finger phalanx (HP:0100899)

Hypoamylasemia (HP:0410289)

Intrathoracic hemangioma (HP:0410287)

Hyperamylasemia (HP:0410288)

Positive meconium methadone test (HP:0410285)

Positive blood molindone test (HP:0410286)

Positive blood acetaminophen test (HP:0410283)

Positive norpropoxyphene blood test (HP:0410284)

Dyspepsia (HP:0410281)

Abnormal circulating amylase level (HP:0410282)

Pediatric onset (HP:0410280)

Dilatation of Inferior mesenteric artery (HP:0100860)

Abnormal fear/anxiety-related behavior (HP:0100852)

Hypoplastic areola (HP:0100853)

Neoplasm of the penis (HP:0100850)

Abnormal emotion/affect behavior (HP:0100851)

Poorly ossified vertebrae (HP:0100856)

Flat sella turcica (HP:0100857)

Aplasia of the musculature (HP:0100854)

Triceps hypoplasia (HP:0100855)

Dilatation of celiac artery (HP:0100858)

Dilatation of superior mesenteric artery (HP:0100859)

Pituitary gland cyst (HP:0410278)

Atrophic pituitary gland (HP:0410279)

Supraumbilical raphe (HP:0410276)

Sternal pit (HP:0410277)

Paraspinal hemangioma (HP:0410274)

Lumbosacral hemangioma (HP:0410275)

Vulvar hemangioma (HP:0410272)

Retropharyngeal hemangioma (HP:0410273)

Esophageal hemangioma (HP:0410270)

Laryngeal hemangioma (HP:0410271)

Plantar telangiectasia (HP:0100870)

Abnormality of the palm (HP:0100871)

Aplasia of the femoral neck (HP:0100863)

Short femoral neck (HP:0100864)

Sclerotic vertebral body (HP:0100861)

Aplasia of the femoral head (HP:0100862)

Duodenal stenosis (HP:0100867)

Broad ischia (HP:0100865)

Short iliac bones (HP:0100866)

Palmar telangiectasia (HP:0100869)

Labial hemangioma (HP:0410269)

Prolonged (HP:0025297)

Morbilliform (HP:0025296)

Herpetiform (HP:0025295)

Dermatomal (HP:0025294)

Distributed along Blaschko lines (HP:0025293)

Congenital mesoblastic nephroma (HP:0100881)

Acral (HP:0025292)

Fibrous hamartoma (HP:0100882)

Lower-body predominance (HP:0025291)

Nephrogenic rest (HP:0100880)

Upper-body predominance (HP:0025290)

Thick hair (HP:0100874)

Hemimacroglossia (HP:0100875)

Abnormality of the plantar skin of foot (HP:0100872)

Enlarged uterus (HP:0100878)

Enlarged ovaries (HP:0100879)

Infra-orbital crease (HP:0100876)

Renal diverticulum (HP:0100877)

Aggravated by activity (HP:0025286)

Aggravated by (HP:0025285)

Sleep-interrupting (HP:0025284)

Partial absence of specific antibody response to hepatitis B vaccine (HP:0410298)

Tender (HP:0025283)

Decreased specific antibody response to polysaccharide vaccine (HP:0410299)

Complete or near-complete absence of specific antibody response to hepatitis B vaccine (HP:0410296)

Cervical lymphadenopathy (HP:0025289)

Partial absence of specific antibody response to tetanus vaccine (HP:0410297)

Decreased specific antibody response to protein vaccine (HP:0410294)

Axial (HP:0025287)

Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)

Abnormal isohemagglutinin level (HP:0410292)

Absent isohemagglutinin level (HP:0410293)

Positive urine norpropoxyphene test (HP:0410290)

Negativism (HP:0410291)

Dull (HP:0025282)

Abnormality of the xiphoid process (HP:0100892)

Sharp (HP:0025281)

Prominent xiphoid process (HP:0100893)

Pain characteristic (HP:0025280)

Cyst of the ductus choledochus (HP:0100890)

Bifid xiphoid process (HP:0100891)

Lateral venous anomaly (HP:0100885)

Abnormality of globe location (HP:0100886)

Chorangioma (HP:0100883)

Compensatory scoliosis (HP:0100884)

Abnormality of the ductus choledochus (HP:0100889)

Abnormality of globe size (HP:0100887)

Interdigital loops (HP:0100888)

Increased globoside Gb4 level (HP:0410366)

Increased hepatitis A virus antibody level (HP:0410367)

Decreased monosialylated core 1 O-glycan level (HP:0410364)

Increased disialylated core 1 O-glycan level (HP:0410365)

Decreased O-mannosyl glycans on alpha-dystroglycan (HP:0410362)

Increased monosialylated core 1 O-glycan level (HP:0410363)

Increased core 1 O-glycan level (HP:0410360)

Decreased core 1 O-glycan level (HP:0410361)

Abnormal core 1 O-glycan level (HP:0410359)

Increased high-mannose N-glycan level (HP:0410357)

Decreased high-mannose N-glycan level (HP:0410358)

Decreased sialylated N-glycan level (HP:0410355)

Abnormal high-mannose N-glycan level (HP:0410356)

Decreased complex N-glycan level (HP:0410353)

Increased sialylated N-glycan level (HP:0410354)

Abnormal complex N-glycan level (HP:0410351)

Increased complex N-glycan level (HP:0410352)

Increased urinary fucosylated oligosaccharide (HP:0410350)

Reduced intrathoracic adipose tissue (HP:0003809)

Abnormal muscle tone (HP:0003808)

Rimmed vacuoles (HP:0003805)

Type 1 muscle fiber predominance (HP:0003803)

Increased urinary multiantennary sialylated oligosaccharide (HP:0410348)

Muscle abnormality related to mitochondrial dysfunction (HP:0003800)

Decreased glycosyltransferase O-Fucosylpeptide 3-Beta-N-Acetylglucosaminyltransferase level (HP:0410349)

Increased urinary galactosylated oligosaccharide (HP:0410346)

Increased urinary high-mannose-type oligosaccharide (HP:0410347)

Decreased proportion of central memory CD4-positive, alpha-beta T cells (HP:0410388)

Decreased proportion of central memory CD8-positive, alpha-beta T cells (HP:0410389)

Decreased proportion of CD4-positive, alpha-beta memory T cells (HP:0410386)

obsolete Decreased proportion of effector memory CD4-positive, alpha-beta T cells (HP:0410387)

Abnormal proportion of central memory CD8-positive, alpha-beta T cells (HP:0410384)

Decreased proportion of CD8-positive, alpha-beta memory T cells (HP:0410385)

obsolete Abnormal proportion of effector memory CD4-positive, alpha-beta T cells (HP:0410382)

Abnormal proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410383)

Abnormal proportion of CD8-positive, alpha-beta memory T cells (HP:0410380)

Abnormal proportion of central memory CD4-positive, alpha-beta T cells (HP:0410381)

Abnormal proportion of CD4-positive, alpha-beta memory T cells (HP:0410379)

Decreased proportion of naive CD8 T cells (HP:0410377)

Decreased proportion of naive CD4 T cells (HP:0410378)

Increased proportion of naive CD4 T cells (HP:0410375)

Increased proportion of naive CD8 T cells (HP:0410376)

Abnormal proportion of naive CD4 T cells (HP:0410373)

Abnormal proportion of naive CD8 T cells (HP:0410374)

Increased hepatitis C virus antibody level (HP:0410371)

Increased Tn-antigen level (HP:0410372)

Absence of ganglioside GM3 (HP:0410370)

Increased globoside Gb3 level (HP:0410368)

Increased hepatitis B virus antibody level (HP:0410369)

Bacteria allergy (HP:0410322)

Drug allergy (HP:0410323)

Animal protein allergy (HP:0410320)

Animal dander allergy (HP:0410321)

Alpha-gal allergy (HP:0410319)

Increased urinary 3-methylhistidine (HP:0410317)

Decreased urinary 3-methylhistidine (HP:0410318)

Increased urinary 1-methylhistidine (HP:0410315)

Abnormal urinary 3-methylhistidine level (HP:0410316)

Abnormal urinary 1-methylhistidine concentration (HP:0410313)

Decreased urinary 1-methylhistidine (HP:0410314)

Hyposegmentation of neutrophil nuclei in CSF (HP:0410311)

Hypersegmentation of neutrophil nuclei in CSF (HP:0410312)

Abnormality of neutrophil morphology in CSF (HP:0410310)

Decreased specific antibody response to infection (HP:0410308)

Alpha-aminoadipic aciduria (HP:0410309)

Partial absence of specific antibody response to meningococcus vaccine (HP:0410306)

Positive stool methadone test (HP:0410307)

Complete or near-complete absence of specific antibody response to meningococcus vaccine (HP:0410304)

Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410305)

Decreased specific antibody response to protein-conjugated polysaccharide vaccine (HP:0410302)

Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine (HP:0410303)

Shortened O-fucosylated glycan on properdin (HP:0410344)

Increased urinary polyhexose (HP:0410345)

Increased circulating heparan sulfate level (HP:0410342)

Decreased circulating heparan sulfate level (HP:0410343)

Focal epithelial hyperplasia of oral mucosa (HP:0410340)

Abnormal circulating heparan sulfate level (HP:0410341)

Insect bite allergy (HP:0410339)

Parasite allergy (HP:0410337)

Plant product allergy (HP:0410338)

Insect allergy (HP:0410335)

Venom allergy (HP:0410336)

Seafood allergy (HP:0410333)

Fungi allergy (HP:0410334)

Nut food product allergy (HP:0410331)

Plant based food allergy (HP:0410332)

Meat allergen allergy (HP:0410330)

Egg allergy (HP:0410328)

Gluten allergy (HP:0410329)

Feather allergy (HP:0410326)

Dairy allergy (HP:0410327)

Dust mite allergy (HP:0410324)

House dust mite allergy (HP:0410325)

Interphalangeal joint contracture of finger (HP:0001220)

Trichodysplasia (HP:0002552)

Tapered humerus (HP:0003883)

Highly arched eyebrow (HP:0002553)

Triangular humerus (HP:0003884)

Absent facial hair (HP:0002550)

Spatulate thumbs (HP:0001222)

Humeral sclerosis (HP:0003881)

Slender humerus (HP:0003882)

Sclerotic foci of the humerus (HP:0003880)

Clubbing (HP:0001217)

Deficit in phonologic short-term memory (HP:0002549)

Delayed ossification of carpal bones (HP:0001216)

Periosteal new bone of humerus (HP:0003878)

Autoamputation (HP:0001218)

Parkinsonism with favorable response to dopaminergic medication (HP:0002548)

Humeral pseudarthrosis (HP:0003879)

Patchy demyelination of subcortical white matter (HP:0002545)

Osteoporotic humerus (HP:0003876)

Prominent fingertip pads (HP:0001212)

Incomprehensible speech (HP:0002546)

Oval transradiancy of humerus (HP:0003877)

Camptodactyly of 2nd-5th fingers (HP:0001215)

Humerus varus (HP:0003874)

Retrocollis (HP:0002544)

Humeral lytic defects (HP:0003875)

Abnormal fingernail morphology (HP:0001231)

Constrictive pericarditis (HP:0002563)

Delayed humeral epiphyseal ossification (HP:0003894)

Broad metacarpals (HP:0001230)

obsolete Malformation of the heart and great vessels (HP:0002564)

Flattened humeral epiphyses (HP:0003895)

2-3 finger syndactyly (HP:0001233)

Absent nipple (HP:0002561)

Absent humeral epiphyseal ossification (HP:0003892)

Nail bed telangiectasia (HP:0001232)

Low-set nipples (HP:0002562)

Advanced ossification of the humeral epiphysis (HP:0003893)

Prominent deltoid tuberosities (HP:0003890)

Abnormality of the humeral epiphysis (HP:0003891)

Abnormality of the thenar eminence (HP:0001227)

Supernumerary nipple (HP:0002558)

Abnormality of the deltoid tuberosities (HP:0003889)

Abnormality of the humeral heads (HP:0003887)

Pointed proximal second through fifth metacarpals (HP:0001223)

Hypoplastic nipples (HP:0002557)

Flattened humeral heads (HP:0003888)

obsolete Acral ulceration and osteomyelitis leading to autoamputation of digits (HP:0001226)

Undermodeled humerus (HP:0003885)

Wrist swelling (HP:0001225)

Absent pubic hair (HP:0002555)

Wide humerus (HP:0003886)

Axial dystonia (HP:0002530)

Broad diaphyses of the upper limbs (HP:0003861)

Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)

Absent humerus (HP:0003862)

Partial absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410301)

Diaphyseal sclerosis of the upper limbs (HP:0003860)

Neuronal loss in central nervous system (HP:0002529)

Falls (HP:0002527)

Cortical diaphyseal irregularity of the upper limbs (HP:0003858)

Granulovacuolar degeneration (HP:0002528)

Cortical diaphyseal thickening of the upper limbs (HP:0003859)

Upper limb metaphyseal widening (HP:0003856)

Deficit in nonword repetition (HP:0002526)

Sclerosis of metaphyses of the upper limbs (HP:0003854)

Cataplexy (HP:0002524)

Spurred metaphyses of the upper limbs (HP:0003855)

Hypsarrhythmia (HP:0002521)

Normal density transverse bands in metaphyses of the upper limbs (HP:0003852)

Areflexia of lower limbs (HP:0002522)

Sclerosis with transverse striations in metaphyses of the upper limbs (HP:0003853)

Humeral exostoses (HP:0003872)

Olivopontocerebellar atrophy (HP:0002542)

Abnormal fingertip morphology (HP:0001211)

Crumpled humerus (HP:0003870)

Inability to walk (HP:0002540)

Deformed humerus (HP:0003871)

Abnormal cerebral cortex morphology (HP:0002538)

Humeral cortical thinning (HP:0003869)

Cortical dysplasia (HP:0002539)

Abnormal cortical gyration (HP:0002536)

Humeral cortical irregularity (HP:0003867)

Humeral cortical thickening (HP:0003868)

Bowed humerus (HP:0003865)

Coarse humeral trabeculae (HP:0003866)

Distal symphalangism of hands (HP:0001204)

Angulated humerus (HP:0003863)

Abnormal posturing (HP:0002533)

Bifid humerus (HP:0003864)

Delayed upper limb epiphyseal ossification (HP:0003840)

Limb hypertonia (HP:0002509)

Semilobar holoprosencephaly (HP:0002507)

Brainstem dysplasia (HP:0002508)

Abnormality of upper limb epiphysis morphology (HP:0003839)

Loss of ambulation (HP:0002505)

Stippled calcification of the shoulder (HP:0003836)

Diffuse cerebral atrophy (HP:0002506)

Soft-tissue ossification around the shoulders (HP:0003837)

Spinocerebellar tract degeneration (HP:0002503)

Shoulder dislocation (HP:0003834)

Calcification of the small brain vessels (HP:0002504)

Shoulder subluxation (HP:0003835)

Spasticity of pharyngeal muscles (HP:0002501)

Abnormality of the tibial plateaux (HP:0003832)

Laterally deficient tibial plateaux (HP:0003833)

Abnormal cerebral white matter morphology (HP:0002500)

Age-dependent penetrance (HP:0003831)

Upper-limb metaphyseal irregularity (HP:0003850)

Lytic defects in metaphyses of the upper limbs (HP:0003851)

Abnormal periventricular white matter morphology (HP:0002518)

Flared upper limb metaphysis (HP:0003849)

Hypnagogic hallucinations (HP:0002519)

Increased intracranial pressure (HP:0002516)

Cupped metaphyses of the upper limbs (HP:0003848)

Cerebral calcification (HP:0002514)

Waddling gait (HP:0002515)

Wide epiphyseal plates of the upper limbs (HP:0003846)

Brain stem compression (HP:0002512)

Round epiphyses of the upper limbs (HP:0003843)

Small epiphyses of the upper limbs (HP:0003844)

Spastic tetraplegia (HP:0002510)

Fragmented epiphyses of the upper limbs (HP:0003841)

Alzheimer disease (HP:0002511)

Irregular epiphyses of the upper limbs (HP:0003842)

Death in childhood (HP:0003819)

Phenotypic variability (HP:0003812)

Late-onset distal muscle weakness (HP:0003810)

Neonatal death (HP:0003811)

Incomplete penetrance (HP:0003829)

Variable expressivity (HP:0003828)

Stillbirth (HP:0003826)

Tall stature (HP:0000098)

Decreased attenuation pattern on pulmonary HRCT (HP:0025396)

Focal segmental glomerulosclerosis (HP:0000097)

Combined cystic and ground-glass pattern on pulmonary HRCT (HP:0025395)

Cystic pattern on pulmonary HRCT (HP:0025394)

Glomerulonephritis (HP:0000099)

Reticulonodular pattern on pulmonary HRCT (HP:0025393)

Proteinuria (HP:0000093)

Nodular-centrilobular with tree-in-bud pattern on pulmonary HRCT (HP:0025399)

Glomerular sclerosis (HP:0000096)

Nodular-perilymphatic pattern on pulmonary HRCT (HP:0025398)

Abnormal renal glomerulus morphology (HP:0000095)

Mosaic attenuation pattern on pulmonary HRCT (HP:0025397)

Nephronophthisis (HP:0000090)

Renal tubular atrophy (HP:0000092)

Abnormal renal tubule morphology (HP:0000091)

Nodular pattern on pulmonary HRCT (HP:0025392)

Crazy paving pattern (HP:0025391)

Reticular pattern on pulmonary HRCT (HP:0025390)

Abnormal mitochondrial shape (HP:0012087)

Abnormal urinary odor (HP:0012088)

Arteritis (HP:0012089)

Ubiquitin-positive cerebral inclusion bodies (HP:0012083)

Abnormality of skeletal muscle fiber size (HP:0012084)

Pyuria (HP:0012085)

Abnormal urinary color (HP:0012086)

Cerebellar granular layer atrophy (HP:0012080)

Enlarged cerebellum (HP:0012081)

Cerebellar Purkinje layer atrophy (HP:0012082)

Diet-resistant subcutaneous adipose tissue below waist (HP:0025385)

Diet-resistant subcutaneous adipose tissue (HP:0025384)

Dorsocervical fat pad (HP:0025383)

Hypodipsia (HP:0025382)

Pulmonary interstitial high-resolution computed tomography abnormality (HP:0025389)

Thyroid nodule (HP:0025388)

Pill-rolling tremor (HP:0025387)

Bitemporal hollowing (HP:0025386)

Keratan sulfate excretion in urine (HP:0012069)

Anti-pituitary antibody positivity (HP:0025381)

Increased circulating androstenedione concentration (HP:0025380)

Borderline personality disorder (HP:0012076)

Histrionic personality disorder (HP:0012077)

Motor conduction block (HP:0012078)

Abnormality of central motor conduction (HP:0012079)

Aciduria (HP:0012072)

Abnormal urinary acylglycine profile (HP:0012073)

Tonic pupil (HP:0012074)

Personality disorder (HP:0012075)

Chondroitin sulfate excretion in urine (HP:0012070)

Abnormal circulating acetylcarnitine concentration (HP:0012071)

Anti-thyroid peroxidase antibody positivity (HP:0025379)

Vesicoureteral reflux (HP:0000076)

Duplicated odontoid process (HP:0025374)

Renal duplication (HP:0000075)

Interictal EEG abnormality (HP:0025373)

Abnormality of the genital system (HP:0000078)

Loud snoring (HP:0025372)

Abnormality of the kidney (HP:0000077)

Delayed ossification of the sacrum (HP:0025371)

Hydroureter (HP:0000072)

Ureteral stenosis (HP:0000071)

Triggered by exertion (HP:0025377)

Ureteropelvic junction obstruction (HP:0000074)

Hyperglutaminuria (HP:0025376)

Ureteral duplication (HP:0000073)

Orthotopic os odontoideum (HP:0025375)

Ureterocele (HP:0000070)

Nodular melanoma (HP:0012058)

Abnormal ossification of the sacrum (HP:0025370)

Lentigo maligna melanoma (HP:0012059)

Multiple bony cystic lesions (HP:0012065)

Increased urinary disaccharide excretion (HP:0012066)

Glycopeptiduria (HP:0012067)

Aspartylglucosaminuria (HP:0012068)

Urinary excretion of sialylated oligosaccharides (HP:0012061)

Bone cyst (HP:0012062)

Aneurysmal bone cyst (HP:0012063)

Unicameral bone cyst (HP:0012064)

Thick growth plates (HP:0025369)

Acral lentiginous melanoma (HP:0012060)

Abnormality of growth plate morphology (HP:0025368)

Abnormality of the ureter (HP:0000069)

Urethral atresia (HP:0000068)

Hepatic failure (HP:0001399)

Glomerular endocapillary hypercellularity (HP:0025363)

Ectopic kidney (HP:0000086)

Renal medullary pyramid hypoplasia (HP:0025362)

Renal hypoplasia (HP:0000089)

Abnormality of medullary pyramid morphology (HP:0025361)

Polycalycosis (HP:0025360)

Renal insufficiency (HP:0000083)

Trichoepithelioma (HP:0025367)

Horseshoe kidney (HP:0000085)

Glomerular extracapillary hypercellularity (HP:0025364)

Duplicated collecting system (HP:0000081)

Abnormality of reproductive system physiology (HP:0000080)

Hemeralopia (HP:0012047)

Oromandibular dystonia (HP:0012048)

Laryngeal dystonia (HP:0012049)

Choroidal melanoma (HP:0012054)

Ciliary body melanoma (HP:0012055)

Cutaneous melanoma (HP:0012056)

Superficial spreading melanoma (HP:0012057)

Anasarca (HP:0012050)

Reactive hypoglycemia (HP:0012051)

Low serum calcitriol (HP:0012052)

Decreased circulating calcifediol concentration (HP:0012053)

Polygonal renal calices (HP:0025359)

Uveal ectropion (HP:0025358)

Erratic myoclonus (HP:0025357)

Abnormality of the urinary system (HP:0000079)

Micropenis (HP:0000054)

Hip dysplasia (HP:0001385)

Autosomal dominant germline de novo mutation (HP:0025352)

Macroorchidism (HP:0000053)

Abnormal hip joint morphology (HP:0001384)

Recurrent interdigital mycosis (HP:0025351)

Abnormality of the clitoris (HP:0000056)

Joint stiffness (HP:0001387)

Giant conjunctival papillae (HP:0025350)

Abnormality of female external genitalia (HP:0000055)

Joint swelling (HP:0001386)

Hypoplastic male external genitalia (HP:0000050)

Psychomotor retardation (HP:0025356)

obsolete Ligamentous laxity (HP:0001380)

Retinal arterial macroaneurysms (HP:0025355)

Urethral atresia, male (HP:0000052)

Abnormal cellular phenotype (HP:0025354)

Perineal hypospadias (HP:0000051)

Joint hypermobility (HP:0001382)

Anti-multiple nuclear dots antibody positivity (HP:0025353)

Sternocleidomastoid amyotrophy (HP:0012036)

Pectoralis amyotrophy (HP:0012037)

Corneal guttata (HP:0012038)

Descemet Membrane Folds (HP:0012039)

Pendular nystagmus (HP:0012043)

Seesaw nystagmus (HP:0012044)

Retinal flecks (HP:0012045)

Areflexia of upper limbs (HP:0012046)

Corneal stromal edema (HP:0012040)

Decreased fertility in males (HP:0012041)

Aspirin-induced asthma (HP:0012042)

Limbal edema (HP:0025349)

Abnormality of the corneal limbus (HP:0025348)

Decreased circulating beta-2-microglobulin level (HP:0025347)

Increased circulating beta-2-microglobulin level (HP:0025346)

Hypospadias (HP:0000047)

Small scrotum (HP:0000046)

Limited elbow extension (HP:0001377)

Shawl scrotum (HP:0000049)

Bifid scrotum (HP:0000048)

obsolete Degenerative joint disease (HP:0001379)

Labial hypertrophy (HP:0000065)

Cholestasis (HP:0001396)

Corneal keratic precipitates (HP:0025341)

Hypoplastic labia minora (HP:0000064)

Hepatic fibrosis (HP:0001395)

Deep episcleral hyperemia (HP:0025340)

Urethral atresia, female (HP:0000067)

Labial hypoplasia (HP:0000066)

Hepatic steatosis (HP:0001397)

Ambiguous genitalia, female (HP:0000061)

Abnormality of the liver (HP:0001392)

Abnormality of circulating beta-2-microglobulin level (HP:0025345)

Clitoral hypoplasia (HP:0000060)

Interlobular bile duct destruction (HP:0025344)

Fused labia minora (HP:0000063)

Cirrhosis (HP:0001394)

Lupus anticoagulant (HP:0025343)

Ambiguous genitalia (HP:0000062)

Central retinal artery occlusion (HP:0025342)

Abnormal urine hormone level (HP:0012029)

Abnormal circulating ornithine concentration (HP:0012025)

Hyperornithinemia (HP:0012026)

Laryngeal edema (HP:0012027)

Hepatocellular adenoma (HP:0012028)

Lipoma (HP:0012032)

Sacral lipoma (HP:0012033)

Liposarcoma (HP:0012034)

Steatocystoma multiplex (HP:0012035)

Increased urinary cortisol level (HP:0012030)

Lipomatous tumor (HP:0012031)

Circumlimbal hyperemia (HP:0025338)

Red eye (HP:0025337)

Delayed ability to sit (HP:0025336)

Delayed ability to stand (HP:0025335)

Abnormal labia morphology (HP:0000058)

obsolete Clitoromegaly (HP:0000057)

Joint laxity (HP:0001388)

Hypoplastic labia majora (HP:0000059)

Superficial episcleral hyperemia (HP:0025339)

Abnormality of male external genitalia (HP:0000032)

Craniosynostosis (HP:0001363)

Symmetrical, oval parietal bone defects (HP:0002695)

Downgaze palsy (HP:0025330)

Epididymitis (HP:0000031)

Abnormal parietal bone morphology (HP:0002696)

Calvarial skull defect (HP:0001362)

Hydrocele testis (HP:0000034)

Abnormality of the skull base (HP:0002693)

Ambiguous genitalia, male (HP:0000033)

Sclerosis of skull base (HP:0002694)

Platybasia (HP:0002691)

Triggered by emotion (HP:0025334)

Hypoplastic facial bones (HP:0002692)

Cortical thinning of foot bones (HP:0025333)

Testicular gonadoblastoma (HP:0000030)

Nystagmus-induced head nodding (HP:0001361)

Abnormality of foot cortical bone (HP:0025332)

Holoprosencephaly (HP:0001360)

Large sella turcica (HP:0002690)

Upgaze palsy (HP:0025331)

EEG with temporal focal spikes (HP:0012018)

Lens luxation (HP:0012019)

EEG with central focal spikes (HP:0012014)

EEG with frontal focal spikes (HP:0012015)

EEG with occipital focal spikes (HP:0012016)

EEG with parietal focal spikes (HP:0012017)

Persistent patent ductus venosus (HP:0012021)

Congenital portosystemic venous shunt (HP:0012022)

Galactosuria (HP:0012023)

Hypergalactosemia (HP:0012024)

Right aortic arch (HP:0012020)

Testicular atrophy (HP:0000029)

Decreased renal parenchymal thickness (HP:0025327)

Cryptorchidism (HP:0000028)

Retinal arterial occlusion (HP:0025326)

Sparse medial eyebrow (HP:0025325)

Arterial occlusion (HP:0025324)

Functional abnormality of male internal genitalia (HP:0000025)

Absent frontal sinuses (HP:0002688)

Prostatitis (HP:0000024)

Megalencephaly (HP:0001355)

Absent paranasal sinuses (HP:0002689)

Azoospermia (HP:0000027)

Prenatal maternal abnormality (HP:0002686)

Anti-glutamic acid decarboxylase antibody positivity (HP:0025329)

Male hypogonadism (HP:0000026)

Plagiocephaly (HP:0001357)

Abnormality of frontal sinus (HP:0002687)

Antepartum hemorrhage (HP:0025328)

Congenital hip dislocation (HP:0001374)

Absent external genitalia (HP:0000042)

Joint dislocation (HP:0001373)

Abnormality of the scrotum (HP:0000045)

Limitation of joint mobility (HP:0001376)

Hypogonadotropic hypogonadism (HP:0000044)

Rheumatoid arthritis (HP:0001370)

Abnormal arterial physiology (HP:0025323)

Venous occlusion (HP:0025322)

Chordee (HP:0000041)

Copper accumulation in liver (HP:0025321)

Long penis (HP:0000040)

Flexion contracture (HP:0001371)

Leakage of dye on fundus fluorescein angiography (HP:0025320)

Focal cognitive seizure with hallucination (HP:0012007)

Focal cognitive seizure with illusion (HP:0012008)

EEG with central focal spike waves (HP:0012009)

Affective epileptic aura (HP:0012003)

Focal cognitive seizure with deja vu/jamais vu (HP:0012004)

Deja vu aura (HP:0012005)

Jamais vu aura (HP:0012006)

EEG with frontal focal spike waves (HP:0012010)

EEG with occipital focal spike waves (HP:0012011)

EEG with parietal focal spike waves (HP:0012012)

EEG with temporal focal spike waves (HP:0012013)

Epispadias (HP:0000039)

Exacerbated by head trauma (HP:0025315)

Choroidal nevus (HP:0025314)

Exophoria (HP:0025313)

Abnormal penis morphology (HP:0000036)

Abnormal joint morphology (HP:0001367)

Abnormal foramen magnum morphology (HP:0002699)

Abnormal testis morphology (HP:0000035)

Rubeosis iridis (HP:0025319)

Arthritis (HP:0001369)

Parietal foramina (HP:0002697)

Ovarian carcinoma (HP:0025318)

Male pseudohermaphroditism (HP:0000037)

Cubitus varus (HP:0025317)

Edema of the dorsum of feet (HP:0012098)

Abnormality of circulating catecholamine level (HP:0012099)

Abnormal pancreas size (HP:0012094)

Multiple joint dislocation (HP:0012095)

Intracranial epidermoid cyst (HP:0012096)

Intracranial dermoid cyst (HP:0012097)

Abnormal pancreas morphology (HP:0012090)

Abnormality of pancreas physiology (HP:0012091)

Abnormality of exocrine pancreas physiology (HP:0012092)

Abnormality of endocrine pancreas physiology (HP:0012093)

Cleft maxillary alveolus (HP:0410003)

obsolete Cleft secondary palate (HP:0410004)

Abnormal vomer morphology (HP:0410000)

Sclerotic humeral metaphysis with longitudinal striations (HP:0003919)

Pointed humeral metaphysis (HP:0003917)

Sclerotic humeral metaphysis (HP:0003918)

Lytic defects of the humeral metaphysis (HP:0003915)

Normal-density transverse humeral bands (HP:0003916)

Humeral metaphyseal irregularity (HP:0003913)

Irregular ossification of humeral metaphyses (HP:0003914)

Flared humeral metaphysis (HP:0003911)

Frayed humeral metaphyses (HP:0003912)

Enlarged humeral metaphyses (HP:0003910)

Cortical thickening of humeral diaphysis (HP:0003928)

Ground glass opacity of humeral diaphysis (HP:0003929)

Abnormality of the humeral diaphysis (HP:0003926)

Cortical irregularity of humeral diaphysis (HP:0003927)

Stippled calcification of humeral metaphysis (HP:0003924)

Spurred humeral metaphysis (HP:0003922)

Square humeral metaphysis (HP:0003923)

Sloping humeral metaphysis (HP:0003920)

Laterally sloping humeral metaphysis (HP:0003921)

Abnormal periodontium morphology (HP:0410026)

Abnormal distribution of cell junction proteins in buccal mucosal cells (HP:0410023)

Musty odor (HP:0410021)

Vaginal fish odor (HP:0410022)

Fish odor (HP:0410020)

Recurrent ear infections (HP:0410018)

Epigastric pain (HP:0410019)

Abnormality of cranial ganglion (HP:0410016)

Otitis externa (HP:0410017)

Abnormality of ganglion (HP:0410014)

Abnormality of ganglion of peripheral nervous system (HP:0410015)

Abnormal mouth floor morphology (HP:0410012)

Abnormality of the submandibular region (HP:0410013)

Abnormality of somatic nerve plexus (HP:0410010)

Abnormality of masticatory muscle (HP:0410011)

Corner fracture of metaphysis (HP:0003908)

Cortical subperiosteal resorption of humeral metaphyses (HP:0003909)

Broad humeral epiphyseal plate (HP:0003906)

Abnormality of the humeral metaphyses (HP:0003907)

Wide epiphyses of the upper limbs (HP:0003904)

Abnormality of the humeral epiphyseal plate (HP:0003905)

Epiphyseal stippling of the humerus (HP:0003902)

Broad humeral epiphyses (HP:0003903)

Small humeral epiphyses (HP:0003900)

Abnormality of the somatic nervous system (HP:0410009)

Stippled calcification of the humeral epiphyses (HP:0003901)

obsolete Abnormality of cartilage morphology (HP:0410007)

Abnormality of the peripheral nervous system (HP:0410008)

Cleft hard palate (HP:0410005)

Abnormality of ophthalmic artery (HP:0410006)

Recurrent urinary tract infections (HP:0000010)

Olfactory lobe agenesis (HP:0001341)

Coxa valga (HP:0002673)

Enhancement of the C-reflex (HP:0001340)

Urinary urgency (HP:0000012)

Kernicterus (HP:0001343)

Basal cell carcinoma (HP:0002671)

Neurogenic bladder (HP:0000011)

Cerebral hemorrhage (HP:0001342)

Gastrointestinal carcinoma (HP:0002672)

Esophoria (HP:0025312)

Anterior chamber cyst (HP:0025311)

Oval pupil (HP:0025310)

EEG with generalized spikes (HP:0012000)

EEG with generalized polyspikes (HP:0012001)

Experiential epileptic aura (HP:0012002)

Autosomal recessive inheritance (HP:0000007)

Partial agenesis of the corpus callosum (HP:0001338)

Quotidian (HP:0025305)

Autosomal dominant inheritance (HP:0000006)

Tremor (HP:0001337)

Periodic (HP:0025304)

Functional abnormality of the bladder (HP:0000009)

Paraganglioma (HP:0002668)

Abnormality of radial epiphyses (HP:0003999)

Episodic (HP:0025303)

Abnormal morphology of female internal genitalia (HP:0000008)

Lissencephaly (HP:0001339)

Osteosarcoma (HP:0002669)

Diurnal (HP:0025302)

Multicystic kidney dysplasia (HP:0000003)

Communicating hydrocephalus (HP:0001334)

Pheochromocytoma (HP:0002666)

Hypoplastic radial head (HP:0003997)

Abnormal pupil shape (HP:0025309)

Abnormality of body height (HP:0000002)

Nephroblastoma (HP:0002667)

Constricted radial neck (HP:0003998)

Acute emergence over days (HP:0025308)

Mode of inheritance (HP:0000005)

Myoclonus (HP:0001336)

Neoplasm (HP:0002664)

Abnormality of the radial head (HP:0003995)

Acute emergence over hours (HP:0025307)

Bimanual synkinesia (HP:0001335)

Lymphoma (HP:0002665)

Flattened radial head (HP:0003996)

Acute emergence over minutes (HP:0025306)

Megacystis (HP:0000021)

Thickened calvaria (HP:0002684)

Urinary incontinence (HP:0000020)

Jerk-locked premyoclonus spikes (HP:0001351)

Inguinal hernia (HP:0000023)

Broad skull (HP:0002682)

Abnormality of male internal genitalia (HP:0000022)

Abnormality of the calvaria (HP:0002683)

J-shaped sella turcica (HP:0002680)

Nocturnal (HP:0025301)

Deformed sella turcica (HP:0002681)

Malar rash (HP:0025300)

Slurred speech (HP:0001350)

Facial diplegia (HP:0001349)

Nocturia (HP:0000017)

Brisk reflexes (HP:0001348)

Abnormal sella turcica morphology (HP:0002679)

Urinary hesitancy (HP:0000019)

Abnormality of the bladder (HP:0000014)

Psychotic mentation (HP:0001345)

Small foramen magnum (HP:0002677)

Hypoplasia of the uterus (HP:0000013)

Absent speech (HP:0001344)

Skull asymmetry (HP:0002678)

Urinary retention (HP:0000016)

Hyperreflexia (HP:0001347)

Bladder diverticulum (HP:0000015)

Cloverleaf skull (HP:0002676)

Spondyloepimetaphyseal dysplasia (HP:0002651)

Aplasia of the ulna (HP:0003982)

Skeletal dysplasia (HP:0002652)

Cerebellar hypoplasia (HP:0001321)

Pseudarthrosis of the radius (HP:0003980)

Cerebellar vermis hypoplasia (HP:0001320)

Scoliosis (HP:0002650)

Broad radius (HP:0003981)

Neonatal hypotonia (HP:0001319)

Abnormality of calvarial morphology (HP:0002648)

Lytic defects of the radius (HP:0003979)

Reduced tendon reflexes (HP:0001315)

Deformed radius (HP:0003977)

Abnormal cerebellum morphology (HP:0001317)

Aortic dissection (HP:0002647)

Fractured radius (HP:0003978)

Giant somatosensory evoked potentials (HP:0001312)

Abnormality of pelvic girdle bone morphology (HP:0002644)

obsolete Chevron-shaped/cone-shaped radius (HP:0003975)

Abnormal nervous system electrophysiology (HP:0001311)

Wormian bones (HP:0002645)

Constricted radius (HP:0003976)

Arteriovenous fistulas of celiac and mesenteric vessels (HP:0002642)

Wide radioulnar joints (HP:0003973)

Neonatal respiratory distress (HP:0002643)

Absent radius (HP:0003974)

Broad ulna (HP:0003993)

Delayed epiphyseal ossification (HP:0002663)

Dislocated wrist (HP:0003994)

All (HP:0000001)

Dystonia (HP:0001332)

Osteosclerosis of the ulna (HP:0003991)

Absent septum pellucidum (HP:0001331)

Painless fractures due to injury (HP:0002661)

Slender ulna (HP:0003992)

Pointed ulna (HP:0003990)

Photosensitive myoclonic seizure (HP:0001327)

Increased susceptibility to fractures (HP:0002659)

EEG with irregular generalized spike and wave complexes (HP:0001326)

Spondylometaphyseal dysplasia (HP:0002657)

Long ulna (HP:0003988)

Specific learning disability (HP:0001328)

Notched ulna (HP:0003989)

Spondyloepiphyseal dysplasia (HP:0002655)

Exostoses of the radius (HP:0003986)

obsolete Brain very small (HP:0001322)

Epiphyseal dysplasia (HP:0002656)

Fractured ulna (HP:0003987)

Hypoglycemic coma (HP:0001325)

Bone pain (HP:0002653)

Posteriorly dislocated ulna (HP:0003984)

Muscle weakness (HP:0001324)

Multiple epiphyseal dysplasia (HP:0002654)

Exostoses of the ulna (HP:0003985)

Exostoses of the forearm bones (HP:0003960)

Fat malabsorption (HP:0002630)

Fractured forearm bones (HP:0003961)

Deformed forearm bones (HP:0003959)

Gastrointestinal arteriovenous malformation (HP:0002629)

Venous varicosities of celiac and mesenteric vessels (HP:0002626)

Cortical thickening of the forearm bones (HP:0003957)

Right aortic arch with mirror image branching (HP:0002627)

Cross-fusion of the forearm bones (HP:0003958)

Abnormal venous morphology (HP:0002624)

Bone-in-a-bone appearance of forearm (HP:0003955)

Deep venous thrombosis (HP:0002625)

Bowed forearm bones (HP:0003956)

obsolete Dissecting aortic dilatation (HP:0002622)

Absent forearm bone (HP:0003953)

Overriding aorta (HP:0002623)

Angulated forearm bones (HP:0003954)

Distal humeral metaphyseal irregularity (HP:0003951)

Atherosclerosis (HP:0002621)

Sclerotic foci of metaphyses of the elbow (HP:0003952)

Hypertension associated with pheochromocytoma (HP:0002640)

Broad forearm bones (HP:0003971)

Peripheral thrombosis (HP:0002641)

Dysmetria (HP:0001310)

Undermodelled forearm bones (HP:0003970)

Tongue fasciculations (HP:0001308)

Budd-Chiari syndrome (HP:0002639)

Dandy-Walker malformation (HP:0001305)

Cerebral ischemia (HP:0002637)

Torsion dystonia (HP:0001304)

Superficial thrombophlebitis (HP:0002638)

Slender forearm bones (HP:0003969)

Type IV atherosclerotic lesion (HP:0002635)

Sclerotic foci in forearm bones (HP:0003966)

Dilatation of an abdominal artery (HP:0002636)

Sclerotic forearm bones (HP:0003967)

Chronic sensorineural polyneuropathy (HP:0001301)

Vasculitis (HP:0002633)

Osteoporotic forearm bones (HP:0003964)

Parkinsonism (HP:0001300)

Arteriosclerosis (HP:0002634)

Pseudarthrosis of the forearm bones (HP:0003965)

obsolete Dilatation of ascending aorta (HP:0002631)

Pachygyria (HP:0001302)

Low-to-normal blood pressure (HP:0002632)

Lytic defects of the forearm bones (HP:0003963)

Celiac disease (HP:0002608)

Humeroulnar synostosis (HP:0003939)

Bowel incontinence (HP:0002607)

Synostosis involving the elbow (HP:0003938)

Gastrointestinal telangiectasia (HP:0002604)

Wide humeral diaphysis (HP:0003935)

Hepatic necrosis (HP:0002605)

Sclerosis of humeral diaphysis (HP:0003933)

Slender humeral diaphysis (HP:0003934)

Hyporeflexia of lower limbs (HP:0002600)

Periosteal new bone of humeral diaphysis (HP:0003931)

Paresis of extensor muscles of the big toe (HP:0002601)

Sclerotic foci of humeral diaphysis (HP:0003932)

Lytic defects of humeral diaphysis (HP:0003930)

Flared elbow metaphyses (HP:0003950)

Varicose veins (HP:0002619)

Vascular dilatation (HP:0002617)

Irregular epiphyses of the elbow (HP:0003948)

Abnormality of the elbow metaphyses (HP:0003949)

Hypotension (HP:0002615)

Abnormality of the epiphyses of the elbow (HP:0003946)

Aortic root aneurysm (HP:0002616)

Delayed elbow epiphyseal ossification (HP:0003947)

Biliary cirrhosis (HP:0002613)

Narrow joint spaces of the elbow (HP:0003944)

Hepatic periportal necrosis (HP:0002614)

Irregular articular surfaces of the elbow joints (HP:0003945)

Cholestatic liver disease (HP:0002611)

Synovial chondromatosis of the elbow (HP:0003942)

Congenital hepatic fibrosis (HP:0002612)

Abnormality of the joint spaces of the elbow (HP:0003943)

Osteoarthritis of the elbow (HP:0003940)

Stippled calcification of the elbow (HP:0003941)

Insulinoma (HP:0012197)

Juvenile colonic polyposis (HP:0012198)

Cluster headache (HP:0012199)

Anaplastic large-cell lymphoma (HP:0012193)

Episodic hemiplegia (HP:0012194)

Irregular respiration (HP:0012195)

Cheyne-Stokes respiration (HP:0012196)

T-cell lymphoma (HP:0012190)

B-cell lymphoma (HP:0012191)

Cutaneous T-cell lymphoma (HP:0012192)

Abnormal parotid gland morphology (HP:0000197)

Descending aorta hypoplasia (HP:0025495)

Lower lip pit (HP:0000196)

Coated aorta (HP:0025494)

Tongue nodules (HP:0000199)

Palmoplantar erythema (HP:0025493)

Absence of Stensen duct (HP:0000198)

Microcoria (HP:0025492)

Bifid uvula (HP:0000193)

Class I obesity (HP:0025499)

Aceruloplasminemia (HP:0025498)

Coronary artery spasm (HP:0025497)

Open mouth (HP:0000194)

Abnormal coronary artery physiology (HP:0025496)

Accessory oral frenulum (HP:0000191)

Abnormal oral frenulum morphology (HP:0000190)

Craniofacial dystonia (HP:0012179)

Venous stenosis (HP:0025491)

Myocardial bridging (HP:0025490)

Entrapment neuropathy of the ulnar nerve at elbow (HP:0012186)

Increased erythrocyte protoporphyrin concentration (HP:0012187)

Hyperemesis gravidarum (HP:0012188)

Hodgkin lymphoma (HP:0012189)

Oropharyngeal squamous cell carcinoma (HP:0012182)

Hyperplastic colonic polyposis (HP:0012183)

Increased HDL cholesterol concentration (HP:0012184)

Constrictive median neuropathy (HP:0012185)

Cystic medial necrosis (HP:0012180)

Entrapment neuropathy (HP:0012181)

Bladder duplication (HP:0025489)

Narrow palate (HP:0000189)

Increased circulating thyroglobulin level (HP:0025484)

Abnormal circulating thyroglobulin level (HP:0025483)

Positive perchlorate discharge test (HP:0025482)

Cervical hemivertebrae (HP:0025481)

Detrusor sphincter dyssynergia (HP:0025488)

Abnormality of bladder morphology (HP:0025487)

Fused labia majora (HP:0025486)

Vaginal adenosis (HP:0025485)

Head-banging (HP:0012168)

Lipomyelomeningocele (HP:0025480)

Self-biting (HP:0012169)

Resistance to activated protein C (HP:0012175)

Abnormal natural killer cell morphology (HP:0012176)

Abnormal natural killer cell physiology (HP:0012177)

Reduced natural killer cell activity (HP:0012178)

Stereotypical hand wringing (HP:0012171)

Stereotypical body rocking (HP:0012172)

Orthostatic tachycardia (HP:0012173)

Glioblastoma multiforme (HP:0012174)

Self-neglect (HP:0025479)

Nail-biting (HP:0012170)

Atrial standstill (HP:0025478)

Cleft palate (HP:0000175)

Hyperpigmented papule (HP:0025473)

Abnormal palate morphology (HP:0000174)

Recurrent plantar mycosis (HP:0025472)

Abnormality of upper lip (HP:0000177)

Congenital panfollicular nevus (HP:0025471)

Submucous cleft hard palate (HP:0000176)

Telogen effluvium (HP:0025470)

Microglossia (HP:0000171)

Periarticular calcification (HP:0025477)

Testicular lipomatosis (HP:0025476)

Erythematous macule (HP:0025475)

Abnormal uvula morphology (HP:0000172)

Erythematous plaque (HP:0025474)

Subcortical cerebral atrophy (HP:0012157)

Carotid artery dissection (HP:0012158)

Internal carotid artery dissection (HP:0012159)

Asterixis (HP:0012164)

Oligodactyly (HP:0012165)

Skin-picking (HP:0012166)

Hair-pulling (HP:0012167)

Intracranial internal carotid artery dissection (HP:0012160)

External carotid artery dissection (HP:0012161)

Common carotid artery dissection (HP:0012162)

Carotid artery dilatation (HP:0012163)

Anagen effluvium (HP:0025469)

Abnormality of the gingiva (HP:0000168)

Carpal bone hypoplasia (HP:0001498)

Gingival fibromatosis (HP:0000169)

obsolete Abnormal cellular physiology (HP:0025462)

Cleft soft palate (HP:0000185)

Abnormal cell morphology (HP:0025461)

Short upper lip (HP:0000188)

High myoinositol in brain by MRS (HP:0025460)

Broad alveolar ridges (HP:0000187)

Movement abnormality of the tongue (HP:0000182)

Beta 2-microglobulinuria (HP:0025466)

Abnormal circulating beta globulin level (HP:0025465)

Increased reactive oxygen species production (HP:0025464)

Difficulty in tongue movements (HP:0000183)

Abnormality of redox activity (HP:0025463)

Lobulated tongue (HP:0000180)

Abnormality of von Willebrand factor (HP:0012146)

Reduced quantity of Von Willebrand factor (HP:0012147)

Multiple lineage myelodysplasia (HP:0012148)

Bilineage myelodysplasia (HP:0012149)

Hypotriglyceridemia (HP:0012153)

Anhedonia (HP:0012154)

Decreased corneal sensation (HP:0012155)

Hemophagocytosis (HP:0012156)

Single lineage myelodysplasia (HP:0012150)

Hemothorax (HP:0012151)

Foveoschisis (HP:0012152)

Increased CSF/serum albumin ratio (HP:0025459)

Decreased CSF albumin concentration (HP:0025458)

Decreased CSF protein (HP:0025457)

Abnormal CSF protein level (HP:0025456)

Thick lower lip vermilion (HP:0000179)

Abnormality of lower lip (HP:0000178)

Abnormality of the mouth (HP:0000153)

Testicular adrenal rest tumor (HP:0025451)

Abnormality of head or neck (HP:0000152)

Eye poking (HP:0001483)

Oral ulcer (HP:0000155)

Wide mouth (HP:0000154)

Freckling (HP:0001480)

Decreased CSF 5-hydroxyindolacetic acid (HP:0025455)

Abnormal CSF metabolite concentration (HP:0025454)

Aplasia of the uterus (HP:0000151)

Subcutaneous nodule (HP:0001482)

Delayed adrenarche (HP:0025453)

Gonadoblastoma (HP:0000150)

Pyoderma gangrenosum (HP:0025452)

Granulocytic hypoplasia (HP:0012139)

Abnormal granulocytopoietic cell morphology (HP:0012135)

Dysplastic granulopoesis (HP:0012136)

Abnormal number of granulocyte precursors (HP:0012137)

Granulocytic hyperplasia (HP:0012138)

Pancreatic squamous cell carcinoma (HP:0012142)

Abnormal megakaryocyte morphology (HP:0012143)

Abnormal monocyte morphology (HP:0012144)

Abnormality of multiple cell lineages in the bone marrow (HP:0012145)

obsolete Abnormality of cells of the lymphoid lineage (HP:0012140)

Anterior displacement of the papillary muscles (HP:0025448)

Ovarian gonadoblastoma (HP:0000149)

Displacement of the papillary muscles (HP:0025447)

Anomalous insertion of papillary muscle directly into anterior mitral leaflet (HP:0025446)

Morphological abnormality of the papillary muscles (HP:0025445)

Compensatory chin elevation (HP:0001477)

Transverse vaginal septum (HP:0000145)

Delayed closure of the anterior fontanelle (HP:0001476)

Vaginal atresia (HP:0000148)

Polycystic ovaries (HP:0000147)

Apically displaced anterolateral papillary muscle (HP:0025449)

Abnormality of the dentition (HP:0000164)

Carpal osteolysis (HP:0001495)

Warm reactive autoantibody positivity (HP:0025440)

Abnormal oral cavity morphology (HP:0000163)

Severe periodontitis (HP:0000166)

Narrow mouth (HP:0000160)

Congenital fibrosis of extraocular muscles (HP:0001491)

Reduced amygdala volume (HP:0025444)

Abnormal cardiac atrial physiology (HP:0025443)

Glossoptosis (HP:0000162)

Falciform retinal fold (HP:0001493)

Median cleft lip (HP:0000161)

Axenfeld anomaly (HP:0001492)

Achilles tendon calcification (HP:0025441)

Basal ganglia necrosis (HP:0012128)

Abnormality of bone marrow stromal cells (HP:0012129)

Intermediate uveitis (HP:0012124)

Prostate cancer (HP:0012125)

Stomach cancer (HP:0012126)

Uraciluria (HP:0012127)

Abnormal number of erythroid precursors (HP:0012131)

Erythroid hyperplasia (HP:0012132)

Erythroid hypoplasia (HP:0012133)

Dysplastic erythropoesis (HP:0012134)

Abnormal erythroid lineage cell morphology (HP:0012130)

Macrocephalic sperm head (HP:0025437)

Elevated serum 11-deoxycortisol (HP:0025436)

Increased circulating lactate dehydrogenase concentration (HP:0025435)

Reduced hemolytic complement activity (HP:0025434)

Abnormality of the tongue (HP:0000157)

Bilateral ptosis (HP:0001488)

obsolete Hypopigmented fundi (HP:0001487)

Abnormal lip morphology (HP:0000159)

Pharyngitis (HP:0025439)

Macroglossia (HP:0000158)

Posterior vitreous detachment (HP:0001489)

Increased level of xylitol in urine (HP:0410074)

Increased level of xylitol in CSF (HP:0410075)

Increased level of ribose in urine (HP:0410072)

Increased level of ribose in CSF (HP:0410073)

Increased level of ribitol in urine (HP:0410070)

Increased level of ribitol in CSF (HP:0410071)

Abnormal neural tube morphology (HP:0410043)

Abnormal liver morphology (HP:0410042)

Bilateral alveolar cleft of maxilla (HP:0410034)

Abnormal T cell activation (HP:0410035)

obsolete Cleft of uvula (HP:0410032)

Unilateral alveolar cleft of maxilla (HP:0410033)

Cleft lip (HP:0410030)

Submucous cleft of soft and hard palate (HP:0410031)

Alveolar bone loss around teeth (HP:0410027)

Recurrent oral herpes (HP:0410028)

Increased level of propylene glycol in blood (HP:0410069)

Increased level of L-fucose in urine (HP:0410067)

Increased level of L-glutamic acid in blood (HP:0410068)

Increased level of hippuric acid in blood (HP:0410065)

Increased level of hippuric acid in urine (HP:0410066)

Increased level of galactonate in red blood cells (HP:0410063)

Increased level of galactitol in red blood cells (HP:0410064)

Increased level of galactitol in plasma (HP:0410061)

Increased level of galactitol in urine (HP:0410062)

Decreased level of D-mannose in urine (HP:0410060)

Increased level of D-threitol in CSF (HP:0410058)

Increased level of D-threitol in urine (HP:0410059)

Decreased level of erythritol in CSF (HP:0410056)

Increased level of D-threitol in plasma (HP:0410057)

Decreased circulating GABA concentration (HP:0410054)

Decreased level of erythritol in urine (HP:0410055)

Increased level of allantoin in serum (HP:0410052)

Elevated circulating gamma-aminobutyric acid concentration (HP:0410053)

Decreased level of 1,5 anhydroglucitol in serum (HP:0410050)

Increased level of 3-hydroxy-3-methylglutaric acid in urine (HP:0410051)

Abnormality of radial ray (HP:0410049)

Palate telangiectasia (HP:0002707)

Prominent median palatal raphe (HP:0002708)

High, narrow palate (HP:0002705)

Abnormality of skull ossification (HP:0002703)

Large foramen magnum (HP:0002700)

Recurrent bacterial infections (HP:0002718)

Recurrent infections (HP:0002719)

Lymphadenopathy (HP:0002716)

Adrenal overactivity (HP:0002717)

Downturned corners of mouth (HP:0002714)

Abnormality of the immune system (HP:0002715)

Commissural lip pit (HP:0002710)

Exaggerated median tongue furrow (HP:0002711)

Increased biotinidase level (HP:0410146)

Eosinophilic infiltration in the stomach mucosa (HP:0410147)

Abnormal biotinidase level (HP:0410144)

Decreased biotinidase level (HP:0410145)

Exercise induced anaphylaxis (HP:0410139)

Solar urticaria (HP:0410137)

Vibratory urticaria (HP:0410138)

Cold urticaria (HP:0410135)

Aquagenic urticaria (HP:0410136)

Chronic idiopathic urticaria (HP:0410133)

Physical urticaria (HP:0410134)

Increased level of L-pyroglutamic acid in urine (HP:0410132)

Uterine leiomyoma (HP:0000131)

Abnormality of the uterus (HP:0000130)

Abnormal respiratory system physiology (HP:0002795)

Gonadal dysgenesis (HP:0000133)

Aplasia/Hypoplasia involving the shoulder musculature (HP:0001464)

Reduced vital capacity (HP:0002792)

Menorrhagia (HP:0000132)

Abnormal pattern of respiration (HP:0002793)

Neonatal breathing dysregulation (HP:0002790)

Decreased lecithin cholesterol acyl transferase level (HP:0025433)

Hypoventilation (HP:0002791)

Acanthoma (HP:0025432)

Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)

Staccato cry (HP:0025431)

High-pitched cry (HP:0025430)

Hyperalbuminemia (HP:0012117)

Laryngeal carcinoma (HP:0012118)

Methemoglobinemia (HP:0012119)

Abnormal circulating creatine concentration (HP:0012113)

Endometrial carcinoma (HP:0012114)

Hepatitis (HP:0012115)

Abnormal circulating albumin concentration (HP:0012116)

Methylmalonic aciduria (HP:0012120)

Panuveitis (HP:0012121)

Anterior uveitis (HP:0012122)

Posterior uveitis (HP:0012123)

Renal potassium wasting (HP:0000128)

1-3 toe syndactyly (HP:0001459)

Abnormal bronchus morphology (HP:0025426)

Renal salt wasting (HP:0000127)

Laryngospasm (HP:0025425)

Tachypnea (HP:0002789)

Abnormal larynx physiology (HP:0025424)

Abnormal larynx morphology (HP:0025423)

Renal tubular dysfunction (HP:0000124)

Tracheal calcification (HP:0002787)

Nephritis (HP:0000123)

Abnormality of the upper arm (HP:0001454)

Abnormal cry (HP:0025429)

Recurrent upper respiratory tract infections (HP:0002788)

Hydronephrosis (HP:0000126)

Abnormality of the musculature of the upper arm (HP:0001457)

Bronchospasm (HP:0025428)

Pelvic kidney (HP:0000125)

Tracheobronchomalacia (HP:0002786)

Abnormal bronchus physiology (HP:0025427)

Abnormal vagina morphology (HP:0000142)

Metatarsal osteolysis (HP:0001473)

Amenorrhea (HP:0000141)

obsolete Familial predisposition (HP:0001472)

Decreased fertility (HP:0000144)

Male-limited autosomal dominant (HP:0001475)

Rectovaginal fistula (HP:0000143)

Sclerotic scapulae (HP:0001474)

Pleural cyst (HP:0025422)

Pneumomediastinum (HP:0025421)

Abnormality of the menstrual cycle (HP:0000140)

Aplasia/Hypoplasia of the musculature of the pelvis (HP:0001471)

Diffuse alveolar hemorrhage (HP:0025420)

Sex-limited autosomal dominant (HP:0001470)

Rhizomelic leg shortening (HP:0012106)

Increased fibular diameter (HP:0012107)

Open angle glaucoma (HP:0012108)

Angle closure glaucoma (HP:0012109)

Abnormal mitochondrial number (HP:0012102)

Abnormality of the mitochondrion (HP:0012103)

Parietal cortical atrophy (HP:0012104)

Occipital cortical atrophy (HP:0012105)

Hypoplasia of the pons (HP:0012110)

Abnormality of circulating glucocorticoid level (HP:0012111)

Abnormal circulating corticosterone level (HP:0012112)

Uterine prolapse (HP:0000139)

Bulbar urethral stricture (HP:0025415)

Ovarian cyst (HP:0000138)

Abnormal morphology of the pelvis musculature (HP:0001469)

Pendulous urethral stricture (HP:0025414)

Fossa navicularis urethral stricture (HP:0025413)

Hypogonadism (HP:0000135)

Contiguous gene syndrome (HP:0001466)

Pulmonary pneumatocele (HP:0025419)

Female hypogonadism (HP:0000134)

Amyotrophy involving the shoulder musculature (HP:0001465)

Renal cortical necrosis (HP:0025418)

Abnormality of the ovary (HP:0000137)

Aplasia/Hypoplasia involving the musculature of the upper arm (HP:0001468)

Patulous urethra (HP:0025417)

Bifid uterus (HP:0000136)

Osteolysis (HP:0002797)

Aplasia/Hypoplasia involving the musculature of the upper limbs (HP:0001467)

Vaginal stricture (HP:0025416)

Metatarsal synostosis (HP:0001440)

obsolete Small vertebral bodies (HP:0002773)

Renal juxtaglomerular cell hypertrophy/hyperplasia (HP:0000111)

Somatic mosaicism (HP:0001442)

Renal dysplasia (HP:0000110)

Abnormality of the musculature of the thigh (HP:0001441)

Splenogonadal fusion (HP:0025410)

Abnormal circulating creatinine concentration (HP:0012100)

Abnormal spleen physiology (HP:0025409)

Decreased serum creatinine (HP:0012101)

Abnormality of the musculature of the lower limbs (HP:0001437)

Abnormal visual fixation (HP:0025404)

Enlarged kidney (HP:0000105)

Abnormality of the foot musculature (HP:0001436)

Stooped posture (HP:0025403)

Renal corticomedullary cysts (HP:0000108)

Square-wave jerks (HP:0025402)

Renal cyst (HP:0000107)

Abnormal abdomen morphology (HP:0001438)

Staring gaze (HP:0025401)

Hepatosplenomegaly (HP:0001433)

Abnormal spleen morphology (HP:0025408)

Relatively short spine (HP:0002766)

Rectourethral fistula (HP:0025407)

Renal agenesis (HP:0000104)

Abnormality of the shoulder girdle musculature (HP:0001435)

Abnormal cartilage morphology (HP:0002763)

Asthenia (HP:0025406)

Polyuria (HP:0000103)

Stippled chondral calcification (HP:0002764)

Visual fixation instability (HP:0025405)

Recurrent lower respiratory tract infections (HP:0002783)

Y-linked inheritance (HP:0001450)

Unilateral renal agenesis (HP:0000122)

Upper airway obstruction (HP:0002781)

Nephrocalcinosis (HP:0000121)

Autosomal dominant contiguous gene syndrome (HP:0001452)

Nodular-random pattern on pulmonary HRCT (HP:0025400)

Bronchomalacia (HP:0002780)

Renal phosphate wasting (HP:0000117)

Abnormality of the genitourinary system (HP:0000119)

Abnormal tracheal morphology (HP:0002778)

Phenotypic abnormality (HP:0000118)

Duplication of metatarsal bones (HP:0001449)

Tracheomalacia (HP:0002779)

Polycystic kidney dysplasia (HP:0000113)

Autosomal dominant somatic cell mutation (HP:0001444)

Nephropathy (HP:0000112)

Abnormality of the gluteal musculature (HP:0001443)

Tracheal stenosis (HP:0002777)

Abnormality of the musculature of the upper limbs (HP:0001446)

Proximal tubulopathy (HP:0000114)

Abnormality of the hip-girdle musculature (HP:0001445)

Delayed skeletal maturation (HP:0002750)

Kyphoscoliosis (HP:0002751)

X-linked recessive inheritance (HP:0001419)

Osteomalacia (HP:0002749)

Respiratory insufficiency due to muscle weakness (HP:0002747)

Microvesicular hepatic steatosis (HP:0001414)

Rickets (HP:0002748)

X-linked inheritance (HP:0001417)

Oral leukoplakia (HP:0002745)

Recurrent enteroviral infections (HP:0002743)

Decreased liver function (HP:0001410)

Bilateral cleft lip and palate (HP:0002744)

Micronodular cirrhosis (HP:0001413)

Recurrent Serratia marcescens infections (HP:0002741)

Enteroviral hepatitis (HP:0001412)

Recurrent Klebsiella infections (HP:0002742)

Generalized joint laxity (HP:0002761)

Multiple exostoses (HP:0002762)

Nephrotic syndrome (HP:0000100)

Abnormality of the calf musculature (HP:0001430)

Multifactorial inheritance (HP:0001426)

Osteoarthritis (HP:0002758)

Heterogeneous (HP:0001425)

Somatic mutation (HP:0001428)

Pathologic fracture (HP:0002756)

Mitochondrial inheritance (HP:0001427)

Recurrent fractures (HP:0002757)

Osteomyelitis (HP:0002754)

Abnormality of the musculature of the hand (HP:0001421)

obsolete Osteomyelitis due to immunodeficiency (HP:0002755)

Sparse bone trabeculae (HP:0002752)

X-linked dominant inheritance (HP:0001423)

Thin bony cortex (HP:0002753)

Follicular hyperplasia (HP:0002729)

Chronic mucocutaneous candidiasis (HP:0002728)

Systemic lupus erythematosus (HP:0002725)

Recurrent Staphylococcus aureus infections (HP:0002726)

Absence of bactericidal oxidative respiratory burst in phagocytes (HP:0002723)

Recurrent Aspergillus infections (HP:0002724)

Immunodeficiency (HP:0002721)

Recurrent abscess formation (HP:0002722)

Decreased circulating IgA level (HP:0002720)

Recurrent E. coli infections (HP:0002740)

Bile duct proliferation (HP:0001408)

Hepatic cysts (HP:0001407)

Hypoplastic frontal sinuses (HP:0002738)

Portal hypertension (HP:0001409)

Hepatocellular necrosis (HP:0001404)

Macrovesicular hepatic steatosis (HP:0001403)

Thick skull base (HP:0002737)

Intrahepatic cholestasis (HP:0001406)

Periportal fibrosis (HP:0001405)

obsolete Hepatic abscesses due to immunodeficiency (HP:0001400)

Lymph node hypoplasia (HP:0002732)

Abnormality of the lymph nodes (HP:0002733)

Hepatocellular carcinoma (HP:0001402)

Chronic noninfectious lymphadenopathy (HP:0002730)

Intrahepatic biliary dysgenesis (HP:0001401)

Decreased lymphocyte apoptosis (HP:0002731)

Rectal prolapse (HP:0002035)

Abnormal femoral neck/head morphology (HP:0003366)

Decreased serum bile acid concentration (HP:0030985)

Hiatus hernia (HP:0002036)

Abnormal femoral neck morphology (HP:0003367)

Abnormal serum bile acid concentration (HP:0030984)

Poor suck (HP:0002033)

Talipes cavus equinovarus (HP:0004696)

Ovarian thecoma (HP:0030983)

Abnormal rectum morphology (HP:0002034)

Arthralgia of the hip (HP:0003365)

Calcaneal epiphyseal stippling (HP:0004695)

Abnormal esophagus morphology (HP:0002031)

Increased VLDL cholesterol concentration (HP:0003362)

Abnormal CSF/serum albumin ratio (HP:0030981)

Esophageal atresia (HP:0002032)

Abdominal situs inversus (HP:0003363)

Reduced brain glutamine level by MRS (HP:0030980)

4-5 toe syndactyly (HP:0004692)

Tryptophanuria (HP:0003361)

2-3 toe syndactyly (HP:0004691)

Thickened Achilles tendon (HP:0004690)

Lymphoid cholangitis (HP:0030989)

Granulomatous cholangitis (HP:0030988)

Suppurative cholangitis (HP:0030987)

Biliary epithelial hyperplasia (HP:0030986)

Abnormal circulating free fatty acid concentration (HP:0040300)

Hyperglycerolemia (HP:0040302)

Increased urinary glycerol (HP:0040301)

Male anorgasmia (HP:0040308)

Male sexual dysfunction (HP:0040307)

Increased size of the mandible (HP:0040309)

Chronic diarrhea (HP:0002028)

Decreased urinary sulfate (HP:0003359)

Duplication of the sella turcica (HP:0040304)

Decreased serum iron (HP:0040303)

Thymic hormone decreased (HP:0003357)

Short fourth metatarsal (HP:0004689)

Decreased male libido (HP:0040306)

Abdominal pain (HP:0002027)

Elevated intracellular cystine (HP:0003358)

Irregular tarsal bones (HP:0004688)

Increased male libido (HP:0040305)

Heat intolerance (HP:0002046)

Megaduodenum (HP:0030996)

Malignant hyperthermia (HP:0002047)

Axonal degeneration/regeneration (HP:0003378)

Peritoneal effusion (HP:0030995)

Zollinger-Ellison syndrome (HP:0002044)

Narrow greater sciatic notch (HP:0003375)

Pancreas divisum (HP:0030994)

Hypothermia (HP:0002045)

Steppage gait (HP:0003376)

Duplication of pancreatic duct (HP:0030993)

Abnormal pancreatic duct morphology (HP:0030992)

Esophageal stricture (HP:0002043)

Sclerosing cholangitis (HP:0030991)

Esophageal varix (HP:0002040)

Enlargement of the proximal femoral epiphysis (HP:0003371)

Pleomorphic cholangitis (HP:0030990)

Intractable diarrhea (HP:0002041)

Flat capital femoral epiphysis (HP:0003370)

Abnormal vestibular saccule morphology (HP:0030999)

Cerebrospinal fluid rhinorrhoea (HP:0030998)

Atretic vas deferens (HP:0030997)

Symmetric polyarthritis (HP:0040311)

Sterile arthritis (HP:0040310)

Oligoarthritis (HP:0040313)

Temporomandibular arthritis (HP:0040312)

Dark urine (HP:0040319)

Red urine (HP:0040318)

Anorexia (HP:0002039)

Tongue edema (HP:0040315)

Blind vagina (HP:0040314)

Inflammation of the large intestine (HP:0002037)

Abnormal femoral head morphology (HP:0003368)

Blue urine (HP:0040317)

Protein avoidance (HP:0002038)

Osteoporotic metatarsal (HP:0004699)

obsolete Aplasia of the penis (HP:0040316)

Vomiting (HP:0002013)

3-Methylglutaric aciduria (HP:0003344)

Prominent supraorbital arches in adult (HP:0004676)

Diarrhea (HP:0002014)

Elevated urinary norepinephrine (HP:0003345)

Morphological central nervous system abnormality (HP:0002011)

Decreased facial expression (HP:0004673)

Abnormality of the abdominal organs (HP:0002012)

Reduced glutathione synthetase level (HP:0003343)

obsolete Abnormal dermatological laboratory findings (HP:0003340)

Narrow maxilla (HP:0002010)

Lamina lucida cleavage (HP:0003341)

Purple urine (HP:0040322)

Dark yellow urine (HP:0040321)

Heliotrope rash (HP:0040324)

Erythema of the eyelids (HP:0040323)

Red-brown urine (HP:0040320)

Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)

Pyrimidine-responsive megaloblastic anemia (HP:0003339)

Potter facies (HP:0002009)

Facial cleft (HP:0002006)

Reduced prothrombin consumption (HP:0003337)

Hypoplasia of the olfactory bulb (HP:0040326)

Frontal bossing (HP:0002007)

Focal necrosis of right ventricular muscle cells (HP:0003338)

Ureteral atresia (HP:0005999)

Bull's eye rash (HP:0040325)

obsolete Low gonadotropins (secondary hypogonadism) (HP:0003335)

Focal hyperintensity of cerebral white matter on MRI (HP:0040328)

Abnormal enchondral ossification (HP:0003336)

Restricted neck movement due to contractures (HP:0005997)

Abnormal morphology of the olfactory bulb (HP:0040327)

Malabsorption (HP:0002024)

Aminoaciduria (HP:0003355)

Anal stenosis (HP:0002025)

Short third metatarsal (HP:0004686)

Propionyl-CoA carboxylase deficiency (HP:0003353)

Anal atresia (HP:0002023)

Hyperthreoninemia (HP:0003354)

Talipes valgus (HP:0004684)

Gastroesophageal reflux (HP:0002020)

Decreased circulating renin level (HP:0003351)

Pyloric stenosis (HP:0002021)

Endopolyploidy on chromosome studies of bone marrow (HP:0003352)

Deep longitudinal plantar crease (HP:0004681)

Confluent hypointensity of cerebral white matter on MRI (HP:0040333)

Multifocal hypointensity of cerebral white matter on MRI (HP:0040332)

Purulent rhinitis (HP:0040334)

Focal hypointensity of cerebral white matter on MRI (HP:0040331)

Confluent hyperintensity of cerebral white matter on MRI (HP:0040330)

Constipation (HP:0002019)

Nausea and vomiting (HP:0002017)

Hyperalaninemia (HP:0003348)

Nausea (HP:0002018)

Low cholesterol esterification rate (HP:0003349)

Large tarsal bones (HP:0004679)

Dysphagia (HP:0002015)

Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)

Progressive muscle weakness (HP:0003323)

Elevated maternal serum alpha-fetoprotein (HP:0005984)

C1-C2 subluxation (HP:0003320)

Biconcave flattened vertebrae (HP:0003321)

Reduced phenylalanine hydroxylase level (HP:0005982)

Abnormality of the cervical spine (HP:0003319)

Cervical spine hypermobility (HP:0003318)

Metabolic ketoacidosis (HP:0005979)

Type II diabetes mellitus (HP:0005978)

Butterfly vertebrae (HP:0003316)

Hypoplasia of the nasal bone (HP:0004646)

Hypochloremic metabolic alkalosis (HP:0005977)

Hyperkalemic metabolic acidosis (HP:0005976)

Deep philtrum (HP:0002002)

Increased serum beta-hexosaminidase (HP:0003333)

Large forehead (HP:0002003)

Elevated circulating catecholamine level (HP:0003334)

Facial midline hemangioma (HP:0004664)

Decreased adipose tissue around neck (HP:0005995)

Short columella (HP:0002000)

Nodular goiter (HP:0005994)

Absent primary metaphyseal spongiosa (HP:0003332)

Frontalis muscle weakness (HP:0004661)

Abnormal bone structure (HP:0003330)

Hypoplasia of facial musculature (HP:0004660)

Limited neck flexion (HP:0005991)

Thyroid hypoplasia (HP:0005990)

Abnormal hair laboratory examination (HP:0003328)

Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes (HP:0003329)

Myalgia (HP:0003326)

Redundant neck skin (HP:0005989)

Axial muscle weakness (HP:0003327)

Congenital muscular torticollis (HP:0005988)

Generalized muscle weakness (HP:0003324)

Multinodular goiter (HP:0005987)

Limitation of neck motion (HP:0005986)

Limb-girdle muscle weakness (HP:0003325)

Ovoid vertebral bodies (HP:0003300)

Cervical segmentation defect (HP:0004632)

Irregular vertebral endplates (HP:0003301)

Decreased cervical spine flexion due to contractures of posterior cervical muscles (HP:0004631)

Anterior beaking of thoracic vertebrae (HP:0004630)

Hypoargininemia (HP:0005961)

Small cervical vertebral bodies (HP:0004629)

Impaired gluconeogenesis (HP:0005959)

Breathing dysregulation (HP:0005957)

Lumbar scoliosis (HP:0004626)

Biconvex vertebral bodies (HP:0004625)

Anteroposteriorly shortened larynx (HP:0005956)

Pulmonary capillary hemangiomatosis (HP:0005954)

Progressive intervertebral space narrowing (HP:0004622)

Hypoplasia of the odontoid process (HP:0003311)

Episodic ketoacidosis (HP:0005974)

Abnormal form of the vertebral bodies (HP:0003312)

Fructose intolerance (HP:0005973)

Respiratory acidosis (HP:0005972)

Abnormality of the odontoid process (HP:0003310)

Cervical subluxation (HP:0003308)

Ovoid thoracolumbar vertebrae (HP:0003309)

Elevated amniotic fluid alpha-fetoprotein (HP:0004639)

Spinal rigidity (HP:0003306)

Hyperlordosis (HP:0003307)

Decreased cervical spine mobility (HP:0004637)

Temperature instability (HP:0005968)

Spondylolysis (HP:0003304)

Mixed respiratory and metabolic acidosis (HP:0005967)

Block vertebrae (HP:0003305)

Cervical C5/C6 vertebrae fusion (HP:0004635)

Spondylolisthesis (HP:0003302)

Cuboid-shaped vertebral bodies (HP:0004634)

Lower thoracic kyphosis (HP:0004633)

Intermittent hypothermia (HP:0005964)

Snout reflex (HP:0030905)

Glabellar reflex (HP:0030904)

Grasp reflex (HP:0030903)

Palmomental reflex (HP:0030902)

Palpebral edema (HP:0100540)

Pruritis on breast (HP:0030901)

Pruritus on foot (HP:0030900)

Femoral hernia (HP:0100541)

Inflammatory abnormality of the eye (HP:0100533)

Episcleritis (HP:0100534)

Wind-swept deformity of the knees (HP:0100531)

Scleritis (HP:0100532)

Anti-liver cytosolic antigen type 1 antibody positivity (HP:0030909)

Fasciitis (HP:0100537)

Abnormality of the supraorbital ridges (HP:0100538)

Liver kidney microsome type 1 antibody positivity (HP:0030908)

Thunderclap headache (HP:0030907)

Tibiofibular diastasis (HP:0100535)

Suck reflex (HP:0030906)

Abnormality of the fascia (HP:0100536)

Periorbital edema (HP:0100539)

Cerebellar edema (HP:0030915)

Abnormal peristalsis (HP:0030914)

Exaggerated rugosity of the labia majora (HP:0030913)

Duplicated clitoris (HP:0030912)

Neoplasm of the trachea (HP:0100551)

Neoplasm of the tracheobronchial system (HP:0100552)

Bifid clitoris (HP:0030911)

Tendon rupture (HP:0100550)

Neoplasm of the heart (HP:0100544)

Arterial stenosis (HP:0100545)

Abnormal localization of kidney (HP:0100542)

Cognitive impairment (HP:0100543)

Exstrophy (HP:0100548)

Low 5-minute APGAR score (HP:0030919)

Low 1-minute APGAR score (HP:0030918)

Carotid artery stenosis (HP:0100546)

Abnormality of forebrain morphology (HP:0100547)

Low APGAR score (HP:0030917)

Asthma (HP:0002099)

Emphysema (HP:0002097)

Respiratory distress (HP:0002098)

Respiratory insufficiency (HP:0002093)

1-minute APGAR score of 0 (HP:0030927)

Dyspnea (HP:0002094)

5-minute APGAR score of 6 (HP:0030926)

Restrictive ventilatory defect (HP:0002091)

5-minute APGAR score of 5 (HP:0030925)

Pulmonary arterial hypertension (HP:0002092)

5-minute APGAR score of 4 (HP:0030924)

5-minute APGAR score of 3 (HP:0030923)

Diplomyelia (HP:0100562)

Pneumonia (HP:0002090)

5-minute APGAR score of 2 (HP:0030922)

Diastomatomyelia (HP:0100563)

5-minute APGAR score of 1 (HP:0030921)

Upper limb asymmetry (HP:0100560)

Spinal cord lesion (HP:0100561)

5-minute APGAR score of 0 (HP:0030920)

Asymmetric growth (HP:0100555)

Hemiatrophy (HP:0100556)

Hemihypertrophy of lower limb (HP:0100553)

Hemihypertrophy of upper limb (HP:0100554)

Lower limb asymmetry (HP:0100559)

1-minute APGAR score of 2 (HP:0030929)

Hemiatrophy of lower limb (HP:0100557)

1-minute APGAR score of 1 (HP:0030928)

Hemiatrophy of upper limb (HP:0100558)

1-minute APGAR score of 3 (HP:0030930)

Enteric intraneuronal nuclear inclusion bodies (HP:0030938)

Carcinoid tumor (HP:0100570)

Fibrotic muscularis propria (HP:0030937)

Abnormal layering of muscularis propria (HP:0030936)

Abnormality of intestinal smooth muscle morphology (HP:0030935)

Oral erythroplakia (HP:0030934)

Muscular cardiac diverticulum (HP:0100573)

Biliary tract neoplasm (HP:0100574)

1-minute APGAR score of 6 (HP:0030933)

1-minute APGAR score of 5 (HP:0030932)

Cardiac diverticulum (HP:0100571)

1-minute APGAR score of 4 (HP:0030931)

Fibrous cardiac diverticulum (HP:0100572)

Amyelia (HP:0100566)

Triplomyelia (HP:0100564)

Hydromyelia (HP:0100565)

Neoplasm of the endocrine system (HP:0100568)

Abnormally ossified vertebrae (HP:0100569)

Palpebral thickening (HP:0030939)

Hypoplasia of the corpus callosum (HP:0002079)

Migraine with aura (HP:0002077)

Truncal ataxia (HP:0002078)

Dysdiadochokinesis (HP:0002075)

Migraine (HP:0002076)

Progressive cerebellar ataxia (HP:0002073)

Increased neuronal autofluorescent lipopigment (HP:0002074)

Glomerular deposits (HP:0030949)

Abnormality of extrapyramidal motor function (HP:0002071)

Chorea (HP:0002072)

Elevated gamma-glutamyltransferase level (HP:0030948)

Conjunctival follicles (HP:0030947)

Limb ataxia (HP:0002070)

Conjunctival papillae (HP:0030946)

Vulvodynia (HP:0030943)

Birdshot choroidal lesions (HP:0030952)

Skeletal muscle fibrosis (HP:0030951)

Abnormal lung morphology (HP:0002088)

Pulmonary venous hypertension (HP:0030950)

Pulmonary hypoplasia (HP:0002089)

Abnormality of the respiratory system (HP:0002086)

Abnormality of the upper respiratory tract (HP:0002087)

Encephalocele (HP:0002084)

Occipital encephalocele (HP:0002085)

Migraine without aura (HP:0002083)

Muscular ventricular septal aneurysm (HP:0030959)

Intention tremor (HP:0002080)

Membranous ventricular septal aneurysm (HP:0030958)

Ventricular septal aneurysm (HP:0030957)

Abnormality of cardiovascular system electrophysiology (HP:0030956)

Alcoholism (HP:0030955)

Conjunctival hyperemia (HP:0030953)

Fibular deviation of toes (HP:0100500)

Recurrent bronchiolitis (HP:0100501)

Low levels of vitamin B2 (HP:0100504)

Low levels of vitamin B5 (HP:0100505)

Vitamin B12 deficiency (HP:0100502)

Low levels of vitamin B1 (HP:0100503)

Abnormality of vitamin metabolism (HP:0100508)

Abnormality of vitamin C metabolism (HP:0100509)

Low levels of vitamin B8 (HP:0100506)

Reduced blood folate concentration (HP:0100507)

Prominent glabella (HP:0002057)

Easy fatigability (HP:0003388)

obsolete Abnormal aortic morphology (HP:0030963)

Abnormal morphology of the great vessels (HP:0030962)

Myopathic facies (HP:0002058)

Curved linear dimple below the lower lip (HP:0002055)

Microspherophakia (HP:0030961)

Abnormality of the glabella (HP:0002056)

Decreased number of large peripheral myelinated nerve fibers (HP:0003387)

obsolete Abnormal pupillary morphology (HP:0030960)

Peripheral axonal atrophy (HP:0003384)

Heavy supraorbital ridges (HP:0002054)

Hypertrophic nerve changes (HP:0003382)

Onion bulb formation (HP:0003383)

Decreased number of peripheral myelinated nerve fibers (HP:0003380)

Macroorchidism, postpubertal (HP:0002050)

Abnormal pulmonary vein physiology (HP:0030969)

Abnormal pulmonary vein morphology (HP:0030968)

Abnormal pulmonary artery physiology (HP:0030967)

Abnormal pulmonary artery morphology (HP:0030966)

Aortic stiffness (HP:0030965)

Abnormal aortic physiology (HP:0030964)

Abnormality of vitamin D metabolism (HP:0100511)

Low levels of vitamin D (HP:0100512)

Low levels of vitamin C (HP:0100510)

Pollakisuria (HP:0100515)

Neoplasm of the ureter (HP:0100516)

Low levels of vitamin E (HP:0100513)

Abnormality of vitamin E metabolism (HP:0100514)

Anuria (HP:0100519)

Neoplasm of the urethra (HP:0100517)

Dysuria (HP:0100518)

Renal cortical atrophy (HP:0002048)

Proximal renal tubular acidosis (HP:0002049)

Neuromuscular dysphagia (HP:0002068)

Cryptozoospermia (HP:0030974)

Bilateral tonic-clonic seizure (HP:0002069)

Postexertional malaise (HP:0030973)

Gait ataxia (HP:0002066)

Abnormal systemic blood pressure (HP:0030972)

Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)

Bradykinesia (HP:0002067)

Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)

obsolete Abnormal vena cava morphology (HP:0030971)

Spastic gait (HP:0002064)

Abnormal vena cava physiology (HP:0030970)

Syringomyelia (HP:0003396)

Morphological abnormality of the pyramidal tract (HP:0002062)

Thenar muscle atrophy (HP:0003393)

Rigidity (HP:0002063)

Muscle spasm (HP:0003394)

Abnormal cerebral morphology (HP:0002060)

Gowers sign (HP:0003391)

Lower limb spasticity (HP:0002061)

First dorsal interossei muscle weakness (HP:0003392)

Sensory axonal neuropathy (HP:0003390)

Dilatation of large choroidal vessels (HP:0030979)

Decreased CSF/serum albumin ratio (HP:0030978)

Abnormal calcium-phosphate regulating hormone level (HP:0100530)

Increased factor VIII activity (HP:0030977)

Abnormal factor VIII activity (HP:0030976)

Pontine tegmental cap (HP:0030975)

Thymoma (HP:0100522)

Liver abscess (HP:0100523)

Oliguria (HP:0100520)

Neoplasm of the thymus (HP:0100521)

Neoplasm of the lung (HP:0100526)

Neoplasia of the pleura (HP:0100527)

Limb duplication (HP:0100524)

Urachus fistula (HP:0100525)

Pleuropulmonary blastoma (HP:0100528)

Abnormal blood phosphate concentration (HP:0100529)

Cerebral atrophy (HP:0002059)

Barrett esophagus (HP:0100580)

Dilatation of renal calices (HP:0100581)

Endocarditis (HP:0100584)

Telangiectasia of the skin (HP:0100585)

Nasal polyposis (HP:0100582)

Corneal perforation (HP:0100583)

Urinary bladder inflammation (HP:0100577)

Lipoatrophy (HP:0100578)

Neoplasm of the gallbladder (HP:0100575)

Amaurosis fugax (HP:0100576)

Mucosal telangiectasiae (HP:0100579)

Peritoneal abscess (HP:0100592)

Rectal fistula (HP:0100590)

Camptocormia (HP:0100595)

Absent nares (HP:0100596)

Calcification of cartilage (HP:0100593)

Esophageal web (HP:0100594)

Paraphimosis (HP:0100588)

Urogenital fistula (HP:0100589)

Sterile pyuria (HP:0100586)

Abnormal preputium morphology (HP:0100587)

Bifid penis (HP:0100599)

Pulmonary edema (HP:0100598)

Lumbar spinal canal stenosis (HP:0004610)

Intermittent hyperpnea at rest (HP:0005941)

Impaired glucose tolerance (HP:0040270)

Hyperintensity of MRI T2 signal of the spinal cord (HP:0040272)

Distal upper limb muscle hypertrophy (HP:0040267)

Proximal upper limb muscle hypertrophy (HP:0040266)

Blocked Eustachian tube (HP:0040269)

Recurrent infections of the middle ear (HP:0040268)

Jaw ankylosis (HP:0040263)

Glue ear (HP:0040262)

Patchy distortion of vertebrae (HP:0004609)

Upper limb muscle hypertrophy (HP:0040265)

Anteriorly placed odontoid process (HP:0004608)

Multiple bilateral pneumothoraces (HP:0005939)

Jaw pain (HP:0040264)

Anterior beaking of lower thoracic vertebrae (HP:0004607)

Abnormal respiratory motile cilium morphology (HP:0005938)

Unossified vertebral bodies (HP:0004606)

Absent vertebral body mineralization (HP:0004605)

Hyperconvex vertebral body endplates (HP:0004603)

Imperfect vocal cord adduction (HP:0005934)

Cervical C2/C3 vertebral fusion (HP:0004602)

Spina bifida occulta at L5 (HP:0004601)

Abnormal renal corticomedullary differentiation (HP:0005932)

Enlarged vertebral pedicles (HP:0004621)

obsolete Decreased pulmonary function (HP:0005952)

Progressive inspiratory stridor (HP:0005951)

Laryngeal web (HP:0005950)

Very frequent (HP:0040281)

Obligate (HP:0040280)

Occasional (HP:0040283)

Frequent (HP:0040282)

Prolactinoma (HP:0040278)

Neoplasm of the pituitary gland (HP:0040277)

Frequency (HP:0040279)

Adenocarcinoma of the small intestine (HP:0040274)

Adenocarcinoma of the intestines (HP:0040273)

Adenocarcinoma of the colon (HP:0040276)

Lumbar kyphoscoliosis (HP:0004619)

Adenocarcinoma of the large intestine (HP:0040275)

Sandwich appearance of vertebral bodies (HP:0004618)

Apneic episodes in infancy (HP:0005949)

Butterfly vertebral arch (HP:0004617)

Multiple pulmonary cysts (HP:0005948)

Cleft vertebral arch (HP:0004616)

Decreased sensitivity to hypoxemia (HP:0005947)

Ventilator dependence with inability to wean (HP:0005946)

Spina bifida occulta at S1 (HP:0004614)

Laryngeal obstruction (HP:0005945)

Bilateral lung agenesis (HP:0005944)

Respiratory arrest (HP:0005943)

Anterior concavity of thoracic vertebrae (HP:0004611)

Desquamative interstitial pneumonitis (HP:0005942)

Left hemiplegia (HP:0040292)

Skeletal muscle steatosis (HP:0040291)

Duplicated tongue (HP:0040294)

Right hemiplegia (HP:0040293)

obsolete Abnormality of skeletal muscles (HP:0040290)

Cyclic neutropenia (HP:0040289)

Nasogastric tube feeding (HP:0040288)

Excluded (HP:0040285)

Very rare (HP:0040284)

Abnormal finger phalanx morphology (HP:0005918)

Axial muscle atrophy (HP:0040287)

Supernumerary metacarpal bones (HP:0005917)

Abnormal axial muscle morphology (HP:0040286)

Abnormal metacarpal morphology (HP:0005916)

Aplasia/Hypoplasia involving the metacarpal bones (HP:0005914)

Abnormality of metacarpal epiphyses (HP:0005913)

Biliary atresia (HP:0005912)

Rhomboid or triangular shaped 5th finger middle phalanx (HP:0005910)

Abnormality of epiphysis morphology (HP:0005930)

Decreased circulating free fatty acid level (HP:0040299)

Abnormal location of the eyebrow (HP:0040296)

Duplication of the upper lip (HP:0040295)

Synostosis involving the tibia (HP:0005929)

Hyperplasia of the endometrium (HP:0040298)

Synostosis involving the fibula (HP:0005928)

Preauricular cyst (HP:0040297)

Aplasia/hypoplasia involving bones of the hand (HP:0005927)

Abnormal hand cortical bone morphology (HP:0005926)

Abnormal hand diaphysis morphology (HP:0005925)

Abnormal hand epiphysis morphology (HP:0005924)

Abnormal hand metaphysis morphology (HP:0005923)

Abnormal hand morphology (HP:0005922)

obsolete Abnormal ossification of hand bones (HP:0005921)

Abnormal epiphysis morphology of the phalanges of the hand (HP:0005920)

Delayed pneumatization of the mastoid process (HP:0005906)

Abnormal cervical curvature (HP:0005905)

obsolete Chronic recurrent multifocal osteomyelitis (HP:0005901)

Fifth metacarpal with ulnar notch (HP:0005900)

Homocystinuria (HP:0002156)

Babinski sign (HP:0003487)

Azotemia (HP:0002157)

Hyperglycinemia (HP:0002154)

Hypertriglyceridemia (HP:0002155)

Hyperproteinemia (HP:0002152)

Hyperkalemia (HP:0002153)

Upper limb muscle weakness (HP:0003484)

Hypercalciuria (HP:0002150)

Segmental peripheral demyelination/remyelination (HP:0003481)

Increased serum lactate (HP:0002151)

EMG: axonal abnormality (HP:0003482)

Hyperuricemia (HP:0002149)

Hypophosphatemia (HP:0002148)

Neurological speech impairment (HP:0002167)

Disproportionate short stature (HP:0003498)

Scanning speech (HP:0002168)

Pterygium of nails (HP:0002165)

Increased circulating IgM level (HP:0003496)

Impaired vibration sensation in the lower limbs (HP:0002166)

obsolete Loss of heterozygosity, multiple chromosomes (HP:0003494)

Nail dysplasia (HP:0002164)

GM2-ganglioside accumulation (HP:0003495)

Hyperlysinemia (HP:0002161)

High urinary gonadotropin level (HP:0003492)

Low posterior hairline (HP:0002162)

Antinuclear antibody positivity (HP:0003493)

obsolete Defective dehydrogenation of isovaleryl CoA and butyryl CoA (HP:0003490)

Hyperhomocystinemia (HP:0002160)

Elevated urine pyrophosphate (HP:0003491)

Acute episodes of neuropathic symptoms (HP:0003489)

Heparan sulfate excretion in urine (HP:0002159)

Abnormality of the basal ganglia (HP:0002134)

Elevated 8(9)-cholestenol (HP:0003465)

Multiple small bowel atresias (HP:0004797)

Basal ganglia calcification (HP:0002135)

Paradoxical increased cortisol secretion on dexamethasone suppression test (HP:0003466)

Gastrointestinal obstruction (HP:0004796)

Porencephalic cyst (HP:0002132)

Increased extraneuronal autofluorescent lipopigment (HP:0003463)

Hamartomatous stomach polyps (HP:0004795)

Status epilepticus (HP:0002133)

obsolete Abnormal cholesterol homeostasis (HP:0003464)

Malrotation of small bowel (HP:0004794)

Increased urinary O-linked sialopeptides (HP:0003461)

Episodic ataxia (HP:0002131)

Elevated 8-dehydrocholesterol (HP:0003462)

Rectoperineal fistula (HP:0004792)

Esophageal ulceration (HP:0004791)

Decreased circulating total IgA (HP:0003460)

Hypoplasia of the small intestine (HP:0004790)

Abnormal upper motor neuron morphology (HP:0002127)

EMG: myopathic abnormalities (HP:0003458)

Polyclonal elevation of IgM (HP:0003459)

Lactose intolerance (HP:0004789)

Low urinary cyclic AMP response to PTH administration (HP:0003456)

Intestinal lymphedema (HP:0004788)

Polymicrogyria (HP:0002126)

EMG abnormality (HP:0003457)

Fulminant hepatitis (HP:0004787)

Frontotemporal dementia (HP:0002145)

Peripheral axonal neuropathy (HP:0003477)

Abnormality of the spinal cord (HP:0002143)

Somatic sensory dysfunction (HP:0003474)

Tethered cord (HP:0002144)

Gait imbalance (HP:0002141)

Hypocalcemic tetany (HP:0003472)

Fatigable weakness (HP:0003473)

Paralysis (HP:0003470)

Ischemic stroke (HP:0002140)

Subarachnoid hemorrhage (HP:0002138)

Peripheral dysmyelination (HP:0003469)

Arrhinencephaly (HP:0002139)

Broad-based gait (HP:0002136)

Atlantoaxial instability (HP:0003467)

Jejunoileal diverticula (HP:0004799)

Abnormal vertebral morphology (HP:0003468)

Recurrent infection of the gastrointestinal tract (HP:0004798)

Decreased size of nerve terminals (HP:0003443)

Pulmonary infiltrates (HP:0002113)

EMG: chronic denervation signs (HP:0003444)

Bronchiectasis (HP:0002110)

obsolete Restrictive deficit on pulmonary function testing (HP:0002111)

Premature graying of body hair (HP:0004771)

Horizontal sacrum (HP:0003440)

obsolete Abnormality of the bronchi (HP:0002109)

Pneumothorax (HP:0002107)

Absent Achilles reflex (HP:0003438)

Spontaneous pneumothorax (HP:0002108)

Hemoptysis (HP:0002105)

Prolonged miniature endplate currents (HP:0003436)

Sparse anterior scalp hair (HP:0004768)

Abnormal pleura morphology (HP:0002103)

Sensory ataxic neuropathy (HP:0003434)

Apnea (HP:0002104)

Cold-induced hand cramps (HP:0003435)

Generalized myoclonic seizure (HP:0002123)

Platelet antibody positive (HP:0003454)

Jejunal diverticula (HP:0004786)

Elevated circulating long chain fatty acid concentration (HP:0003455)

Malrotation of colon (HP:0004785)

Generalized non-motor (absence) seizure (HP:0002121)

Increased serum iron (HP:0003452)

Juvenile gastrointestinal polyposis (HP:0004784)

Antineutrophil antibody positivity (HP:0003453)

Duodenal polyposis (HP:0004783)

Axonal regeneration (HP:0003450)

obsolete Hypotrichosis of the scalp (HP:0004782)

Cerebral cortical atrophy (HP:0002120)

Increased rate of premature chromosome condensation (HP:0003451)

Elbow hypertrichosis (HP:0004780)

Abnormal cerebral ventricle morphology (HP:0002118)

Cold-induced muscle cramps (HP:0003449)

Ventriculomegaly (HP:0002119)

Axonal loss (HP:0003447)

Brittle scalp hair (HP:0004779)

Decreased sensory nerve conduction velocity (HP:0003448)

EMG: neuropathic changes (HP:0003445)

obsolete Platyspondyly (childhood) (HP:0003421)

Vertebral segmentation defect (HP:0003422)

Congenital atrioventricular dissociation (HP:0004752)

Paroxysmal ventricular tachycardia (HP:0004751)

Back pain (HP:0003418)

Low back pain (HP:0003419)

Atrial flutter (HP:0004749)

Spinal canal stenosis (HP:0003416)

Coronal cleft vertebrae (HP:0003417)

Atlantoaxial dislocation (HP:0003414)

Glomerular subendothelial electron-dense deposits (HP:0004746)

Atlantoaxial abnormality (HP:0003413)

Chronic tubulointerstitial nephritis (HP:0004743)

Abnormal lung lobation (HP:0002101)

Myxomatous mitral valve degeneration (HP:0004764)

Pleuritis (HP:0002102)

Paroxysmal supraventricular tachycardia (HP:0004763)

Hypoplasia of right ventricle (HP:0004762)

Recurrent aspiration pneumonia (HP:0002100)

Decreased motor nerve conduction velocity (HP:0003431)

Post-angioplasty coronary artery restenosis (HP:0004761)

obsolete Congenital septal defect (HP:0004760)

CNS hypomyelination (HP:0003429)

Thenar muscle weakness (HP:0003427)

obsolete Nodular calcific aortic valve disease (HP:0004759)

Effort-induced polymorphic ventricular tachycardia (HP:0004758)

Paroxysmal atrial fibrillation (HP:0004757)

First dorsal interossei muscle atrophy (HP:0003426)

Ventricular tachycardia (HP:0004756)

Thoracolumbar kyphoscoliosis (HP:0003423)

Supraventricular tachycardia (HP:0004755)

Permanent atrial fibrillation (HP:0004754)

Partial duplication of the middle phalanx of the 4th toe (HP:0100420)

Complete duplication of the middle phalanx of the 5th toe (HP:0100412)

Complete duplication of the proximal phalanx of the 3rd toe (HP:0100413)

Complete duplication of the middle phalanx of the 3rd toe (HP:0100410)

Complete duplication of the middle phalanx of the 4th toe (HP:0100411)

Partial duplication of the distal phalanx of the 3rd toe (HP:0100416)

Partial duplication of the distal phalanx of the 4th toe (HP:0100417)

Complete duplication of the proximal phalanx of the 4th toe (HP:0100414)

Complete duplication of the proximal phalanx of the 5th toe (HP:0100415)

Partial duplication of the distal phalanx of the 5th toe (HP:0100418)

Partial duplication of the middle phalanx of the 3rd toe (HP:0100419)

Broad proximal phalanx of the 5th toe (HP:0100430)

Broad distal phalanx of the 3rd toe (HP:0100431)

Partial duplication of the proximal phalanx of the 4th toe (HP:0100423)

Partial duplication of the proximal phalanx of the 5th toe (HP:0100424)

Partial duplication of the middle phalanx of the 5th toe (HP:0100421)

Partial duplication of the proximal phalanx of the 3rd toe (HP:0100422)

Broad middle phalanx of the 5th toe (HP:0100427)

Broad proximal phalanx of the 3rd toe (HP:0100428)

Broad middle phalanx of the 3rd toe (HP:0100425)

Broad middle phalanx of the 4th toe (HP:0100426)

Broad proximal phalanx of the 4th toe (HP:0100429)

Bullet-shaped distal phalanx of the 4th toe (HP:0100441)

Bullet-shaped distal phalanx of the 5th toe (HP:0100442)

Bullet-shaped distal phalanx of the 3rd toe (HP:0100440)

Bullet-shaped middle phalanx of the 3rd toe (HP:0100434)

Bullet-shaped middle phalanx of the 4th toe (HP:0100435)

Broad distal phalanx of the 4th toe (HP:0100432)

Broad distal phalanx of the 5th toe (HP:0100433)

Bullet-shaped proximal phalanx of the 4th toe (HP:0100438)

Bullet-shaped proximal phalanx of the 5th toe (HP:0100439)

Bullet-shaped middle phalanx of the 5th toe (HP:0100436)

Bullet-shaped proximal phalanx of the 3rd toe (HP:0100437)

Osteolytic defects of the middle phalanx of the 3rd toe (HP:0100452)

Osteolytic defects of the middle phalanx of the 4th toe (HP:0100453)

Curved distal phalanx of the 4th toe (HP:0100450)

Curved distal phalanx of the 5th toe (HP:0100451)

Curved middle phalanx of the 5th toe (HP:0100445)

Curved proximal phalanx of the 3rd toe (HP:0100446)

Curved middle phalanx of the 3rd toe (HP:0100443)

Curved middle phalanx of the 4th toe (HP:0100444)

Curved distal phalanx of the 3rd toe (HP:0100449)

Curved proximal phalanx of the 4th toe (HP:0100447)

Curved proximal phalanx of the 5th toe (HP:0100448)

Dilated fourth ventricle (HP:0002198)

Hypocalcemic seizures (HP:0002199)

Myelopathy (HP:0002196)

Generalized-onset seizure (HP:0002197)

Delayed gross motor development (HP:0002194)

Dysgenesis of the cerebellar vermis (HP:0002195)

Pseudobulbar behavioral symptoms (HP:0002193)

Choroid plexus cyst (HP:0002190)

Progressive spasticity (HP:0002191)

Opisthotonus (HP:0002179)

Spinal cord compression (HP:0002176)

Postural tremor (HP:0002174)

Postural instability (HP:0002172)

Hypoglycemic seizures (HP:0002173)

Intracranial hemorrhage (HP:0002170)

Gliosis (HP:0002171)

Clonus (HP:0002169)

obsolete Excessive daytime sleepiness (HP:0002189)

Intellectual disability, profound (HP:0002187)

Delayed CNS myelination (HP:0002188)

Neurofibrillary tangles (HP:0002185)

Apraxia (HP:0002186)

Phonophobia (HP:0002183)

Cerebral edema (HP:0002181)

Neurodegeneration (HP:0002180)

Duplication of the middle phalanx of the 3rd toe (HP:0100401)

Duplication of the middle phalanx of the 4th toe (HP:0100402)

Duplication of the distal phalanx of the 5th toe (HP:0100400)

Duplication of the proximal phalanx of the 4th toe (HP:0100405)

Duplication of the proximal phalanx of the 5th toe (HP:0100406)

Duplication of the middle phalanx of the 5th toe (HP:0100403)

Duplication of the proximal phalanx of the 3rd toe (HP:0100404)

Complete duplication of the distal phalanx of the 5th toe (HP:0100409)

Complete duplication of the distal phalanx of the 3rd toe (HP:0100407)

Complete duplication of the distal phalanx of the 4th toe (HP:0100408)

Deviation of toes (HP:0100498)

Tibial deviation of toes (HP:0100499)

Osteolytic defects of the distal phalanx of the 5th toe (HP:0100460)

Patchy sclerosis of the middle phalanx of the 5th toe (HP:0100463)

Patchy sclerosis of the proximal phalanx of the 3rd toe (HP:0100464)

Patchy sclerosis of the middle phalanx of the 3rd toe (HP:0100461)

Patchy sclerosis of the middle phalanx of the 4th toe (HP:0100462)

Osteolytic defects of the proximal phalanx of the 4th toe (HP:0100456)

Osteolytic defects of the proximal phalanx of the 5th toe (HP:0100457)

Osteolytic defects of the middle phalanx of the 5th toe (HP:0100454)

Osteolytic defects of the proximal phalanx of the 3rd toe (HP:0100455)

Osteolytic defects of the distal phalanx of the 3rd toe (HP:0100458)

Osteolytic defects of the distal phalanx of the 4th toe (HP:0100459)

Symphalangism affecting the middle phalanx of the 3rd toe (HP:0100470)

Symphalangism affecting the middle phalanx of the 4th toe (HP:0100471)

Symphalangism affecting the proximal phalanx of the 4th toe (HP:0100474)

Symphalangism affecting the proximal phalanx of the 5th toe (HP:0100475)

Symphalangism affecting the middle phalanx of the 5th toe (HP:0100472)

Symphalangism affecting the proximal phalanx of the 3rd toe (HP:0100473)

Patchy sclerosis of the distal phalanx of the 3rd toe (HP:0100467)

Patchy sclerosis of the distal phalanx of the 4th toe (HP:0100468)

Patchy sclerosis of the proximal phalanx of the 4th toe (HP:0100465)

Patchy sclerosis of the proximal phalanx of the 5th toe (HP:0100466)

Patchy sclerosis of the distal phalanx of the 5th toe (HP:0100469)

Proximal/middle symphalangism of 4th toe (HP:0100481)

Proximal/middle symphalangism of 5th toe (HP:0100482)

Proximal/middle symphalangism of 3rd toe (HP:0100480)

Symphalangism of the proximal phalanx of the 4th toe with the 4th metatarsal (HP:0100485)

Symphalangism of the proximal phalanx of the 5th toe with the 5th metatarsal (HP:0100486)

Symphalangism of the proximal phalanx of the 2nd toe with the 2nd metatarsal (HP:0100483)

Symphalangism of the proximal phalanx of the 3rd toe with the 3rd metatarsal (HP:0100484)

Symphalangism affecting the distal phalanx of the 5th toe (HP:0100478)

Symphalangism affecting the distal phalanx of the 3rd toe (HP:0100476)

Symphalangism affecting the distal phalanx of the 4th toe (HP:0100477)

Joint contractures involving the joints of the feet (HP:0100492)

Hypoammonemia (HP:0100493)

Camptodactyly of finger (HP:0100490)

Abnormality of lower limb joint (HP:0100491)

Abnormality of the vitamin B3 metabolism (HP:0100496)

Vitamin B3 deficiency (HP:0100497)

Abnormal mast cell morphology (HP:0100494)

Mastocytosis (HP:0100495)

Proximal/middle symphalangism of 2nd toe (HP:0100489)

Triangular shaped distal phalanx of the 5th toe (HP:0100487)

Synostosis of the proximal phalanx of the hallux with the 1st metatarsal (HP:0100488)

Basal lamina onion bulb formation (HP:0003400)

Acute tubulointerstitial nephritis (HP:0004729)

Impaired renal concentrating ability (HP:0004727)

Calcium nephrolithiasis (HP:0004724)

Thickened glomerular basement membrane (HP:0004722)

Abnormal renal collecting system morphology (HP:0004742)

Proximal femoral metaphyseal irregularity (HP:0003411)

Distal sensory impairment of all modalities (HP:0003409)

Diffuse axonal swelling (HP:0003405)

Global glomerulosclerosis (HP:0004737)

Peripheral nerve compression (HP:0003406)

Crossed fused renal ectopia (HP:0004736)

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)

Renal cortical microcysts (HP:0004734)

Paresthesia (HP:0003401)

Decreased miniature endplate potentials (HP:0003402)

Impaired renal uric acid clearance (HP:0004732)

Short fifth metatarsal (HP:0004704)

Hyperechogenic kidneys (HP:0004719)

Axial malrotation of the kidney (HP:0004717)

Reversible renal failure (HP:0004713)

Renal malrotation (HP:0004712)

Horner syndrome (HP:0002277)

Poor motor coordination (HP:0002275)

Tetraparesis (HP:0002273)

obsolete Autonomic dysregulation (HP:0002271)

Abnormality of the autonomic nervous system (HP:0002270)

Paroxysmal dystonia (HP:0002268)

Abnormality of neuronal migration (HP:0002269)

Alopecia universalis (HP:0002289)

Fair hair (HP:0002286)

Progressive alopecia (HP:0002287)

Gray matter heterotopia (HP:0002282)

Global brain atrophy (HP:0002283)

Enlarged cisterna magna (HP:0002280)

obsolete Gray matter heterotopias (HP:0002281)

Arachnoid cyst (HP:0100702)

Tongue thrusting (HP:0100703)

Abnormal arachnoid mater morphology (HP:0100700)

Abnormal pia mater (HP:0100701)

Abnormal oligodendroglia morphology (HP:0100706)

Abnormal astrocyte morphology (HP:0100707)

Cerebral visual impairment (HP:0100704)

Abnormal glial cell morphology (HP:0100705)

Abnormal microglia morphology (HP:0100708)

Reduction of oligodendroglia (HP:0100709)

Small bowel diverticula (HP:0002256)

Insidious onset (HP:0003587)

Colonic diverticula (HP:0002253)

Late onset (HP:0003584)

Intermittent diarrhea (HP:0002254)

Aganglionic megacolon (HP:0002251)

Abnormal large intestine morphology (HP:0002250)

Adult onset (HP:0003581)

Impulsivity (HP:0100710)

Abnormal thoracic spine morphology (HP:0100711)

Abnormal lumbar spine morphology (HP:0100712)

Abnormal cementum morphology (HP:0100717)

Uterine rupture (HP:0100718)

Self-injurious behavior (HP:0100716)

Hematemesis (HP:0002248)

Melena (HP:0002249)

Abnormal duodenum morphology (HP:0002246)

Congenital onset (HP:0003577)

Lens coloboma (HP:0100719)

Duodenal atresia (HP:0002247)

Focal clonic seizure (HP:0002266)

Exaggerated startle response (HP:0002267)

Large fleshy ears (HP:0002265)

Middle age onset (HP:0003596)

Infantile onset (HP:0003593)

Exaggerated cupid's bow (HP:0002263)

Hypoplasia of the ear cartilage (HP:0100720)

Mediastinal lymphadenopathy (HP:0100721)

Hypercoagulability (HP:0100724)

Lichenification (HP:0100725)

Gastrointestinal stroma tumor (HP:0100723)

Germ cell neoplasia (HP:0100728)

Large face (HP:0100729)

Kaposi's sarcoma (HP:0100726)

Histiocytosis (HP:0100727)

Chronic rhinitis (HP:0002257)

Folate-dependent fragile site at Xq28 (HP:0003564)

Early balding (HP:0002234)

Elevated erythrocyte sedimentation rate (HP:0003565)

Sparse body hair (HP:0002231)

Abnormal metaphyseal vascular invasion (HP:0003562)

Laryngotracheal stenosis (HP:0004894)

Patchy alopecia (HP:0002232)

Decreased LDL cholesterol concentration (HP:0003563)

Muscular dystrophy (HP:0003560)

Generalized hirsutism (HP:0002230)

Birth length less than 3rd percentile (HP:0003561)

Recurrent infections due to aspiration (HP:0004891)

Elevated pulmonary artery pressure (HP:0004890)

Muscle hyperirritability (HP:0003559)

obsolete Alopecia areata (HP:0002229)

White eyebrow (HP:0002226)

Increased variability in muscle fiber diameter (HP:0003557)

Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)

White eyelashes (HP:0002227)

Viral infection-induced rhabdomyolysis (HP:0003558)

Woolly hair (HP:0002224)

Muscle fiber splitting (HP:0003555)

Respiratory failure requiring assisted ventilation (HP:0004887)

Sparse pubic hair (HP:0002225)

Congenital laryngeal stridor (HP:0004886)

Abnormality of the small intestine (HP:0002244)

Increased intracellular sodium (HP:0003575)

Meckel diverticulum (HP:0002245)

Abnormal intestine morphology (HP:0002242)

Increased total bilirubin (HP:0003573)

Protein-losing enteropathy (HP:0002243)

Positive regitine blocking test (HP:0003574)

Hepatomegaly (HP:0002240)

Propionic acidemia (HP:0003571)

Low plasma citrulline (HP:0003572)

Molybdenum cofactor deficiency (HP:0003570)

Gastrointestinal hemorrhage (HP:0002239)

Decreased glucosephosphate isomerase level (HP:0003568)

Pili canaliculi (HP:0002235)

Increased serum prostaglandin E2 (HP:0003566)

Persistent lactic acidosis (HP:0004898)

Frontal upsweep of hair (HP:0002236)

Stress/infection-induced lactic acidosis (HP:0004897)

White forelock (HP:0002211)

Increased serum pyruvate (HP:0003542)

Curly hair (HP:0002212)

Impaired platelet aggregation (HP:0003540)

Incisional hernia (HP:0004872)

Urinary glycosaminoglycan excretion (HP:0003541)

Perineal fistula (HP:0004871)

Chronic hemolytic anemia (HP:0004870)

Coarse hair (HP:0002208)

Sparse scalp hair (HP:0002209)

Pulmonary fibrosis (HP:0002206)

Hypouricemia (HP:0003537)

Diffuse reticular or finely nodular infiltrations (HP:0002207)

Increased iduronate sulfatase level (HP:0003538)

Pulmonary embolism (HP:0002204)

3-Methylglutaconic aciduria (HP:0003535)

Recurrent respiratory infections (HP:0002205)

Decreased fumarate hydratase activity (HP:0003536)

Impaired ADP-induced platelet aggregation (HP:0004866)

Pleural effusion (HP:0002202)

Reduced acetaldehyde dehydrogenase level (HP:0003533)

Respiratory paralysis (HP:0002203)

Reduced xanthine dehydrogenase level (HP:0003534)

Refractory sideroblastic anemia (HP:0004864)

obsolete Cellulitis due to immunodeficiency (HP:0003553)

Episodic respiratory distress (HP:0004885)

Absent eyebrow (HP:0002223)

Type 2 muscle fiber atrophy (HP:0003554)

Melanin pigment aggregation in hair shafts (HP:0002220)

Difficulty climbing stairs (HP:0003551)

Absent axillary hair (HP:0002221)

Muscle stiffness (HP:0003552)

Episodic hypoventilation (HP:0004881)

Predominantly lower limb lymphedema (HP:0003550)

Respiratory infections in early life (HP:0004880)

Facial hypertrichosis (HP:0002219)

Slow-growing hair (HP:0002217)

Subsarcolemmal accumulations of abnormally shaped mitochondria (HP:0003548)

Abnormality of connective tissue (HP:0003549)

Silver-gray hair (HP:0002218)

Intermittent hyperventilation (HP:0004879)

Sparse axillary hair (HP:0002215)

Exercise intolerance (HP:0003546)

Intercostal muscle weakness (HP:0004878)

Premature graying of hair (HP:0002216)

Shoulder girdle muscle weakness (HP:0003547)

Fine hair (HP:0002213)

Spontaneous neonatal pneumothorax (HP:0004876)

Neonatal inspiratory stridor (HP:0004875)

Breast aplasia (HP:0100783)

Conjunctival hamartoma (HP:0100780)

Abnormal sacroiliac joint morphology (HP:0100781)

Dural ectasia (HP:0100775)

Recurrent pharyngitis (HP:0100776)

Cartilage destruction (HP:0100773)

Hyperostosis (HP:0100774)

Urogenital sinus anomaly (HP:0100779)

Exostoses (HP:0100777)

Cryoglobulinemia (HP:0100778)

Hernia (HP:0100790)

Acantholysis (HP:0100792)

Hypersomnia (HP:0100786)

Prostate neoplasm (HP:0100787)

Peripheral arteriovenous fistula (HP:0100784)

Insomnia (HP:0100785)

Fused lips (HP:0100788)

Torus palatinus (HP:0100789)

Toenail dysplasia (HP:0100797)

Fingernail dysplasia (HP:0100798)

Abnormally straight spine (HP:0100795)

Orchitis (HP:0100796)

Neoplasm of the middle ear (HP:0100799)

Transverse facial cleft (HP:0100731)

Pancreatic fibrosis (HP:0100732)

Bronchogenic cyst (HP:0100730)

Hypertensive crisis (HP:0100735)

Abnormal soft palate morphology (HP:0100736)

Neoplasm of the parathyroid gland (HP:0100733)

Abnormality of vertebral epiphysis morphology (HP:0100734)

Bulimia (HP:0100739)

Abnormal hard palate morphology (HP:0100737)

Abnormal eating behavior (HP:0100738)

Atelectasis (HP:0100750)

Vascular neoplasm (HP:0100742)

Neoplasm of the rectum (HP:0100743)

Macrodactyly of finger (HP:0100746)

Macrodactyly of toe (HP:0100747)

Abnormality of the humeroradial joint (HP:0100744)

Abnormality of the humeroulnar joint (HP:0100745)

Muscular edema (HP:0100748)

Chest pain (HP:0100749)

Brittle hair (HP:0002299)

Red hair (HP:0002297)

Absent hair (HP:0002298)

Progressive hypotrichosis (HP:0002296)

Alopecia of scalp (HP:0002293)

Frontal balding (HP:0002292)

Poliosis (HP:0002290)

Clubbing of toes (HP:0100760)

Visceral angiomatosis (HP:0100761)

Schizophrenia (HP:0100753)

Mania (HP:0100754)

Esophageal neoplasm (HP:0100751)

Abnormal liver lobulation (HP:0100752)

Pancreatoblastoma (HP:0100757)

Gangrene (HP:0100758)

Abnormality of salivation (HP:0100755)

Clubbing of fingers (HP:0100759)

Hypoperistalsis (HP:0100771)

Hyperperistalsis (HP:0100770)

Lymphangioma (HP:0100764)

Abnormality of the tonsils (HP:0100765)

Hemobilia (HP:0100762)

Abnormality of the lymphatic system (HP:0100763)

Choriocarcinoma (HP:0100768)

Synovitis (HP:0100769)

Abnormal lymphatic vessel morphology (HP:0100766)

Abnormal placenta morphology (HP:0100767)

Reduced leukocyte alkaline phosphatase (HP:0004852)

Disproportionate short-trunk short stature (HP:0003521)

Folate-responsive megaloblastic anemia (HP:0004851)

Recurrent deep vein thrombosis (HP:0004850)

Birth length greater than 97th percentile (HP:0003517)

Ph-positive acute lymphoblastic leukemia (HP:0004848)

Prolonged bleeding after surgery (HP:0004846)

Reduced ratio of renal calcium clearance to creatinine clearance (HP:0003513)

Acute monocytic leukemia (HP:0004845)

Deficiency or absence of cytochrome b(-245) (HP:0003514)

Coombs-positive hemolytic anemia (HP:0004844)

Pseudobulbar signs (HP:0002200)

Compensated hemolytic anemia (HP:0004863)

Ornithinuria (HP:0003532)

Refractory macrocytic anemia (HP:0004861)

Elevated circulating glutaric acid concentration (HP:0003530)

Thiamine-responsive megaloblastic anemia (HP:0004860)

Elevated calcitonin (HP:0003528)

Parathormone-independent increased renal tubular calcium reabsorption (HP:0003529)

Amegakaryocytic thrombocytopenia (HP:0004859)

Orotic acid crystalluria (HP:0003526)

Hyperprostaglandinuria (HP:0003527)

Hyperchromic macrocytic anemia (HP:0004857)

Decreased methionine synthase activity (HP:0003524)

Normochromic microcytic anemia (HP:0004856)

Reduced protein S activity (HP:0004855)

Intermittent thrombocytopenia (HP:0004854)

Refractory anemia with ringed sideroblasts (HP:0004828)

Folate-unresponsive megaloblastic anemia (HP:0004826)

Increased hemoglobin oxygen affinity (HP:0004825)

Anisopoikilocytosis (HP:0004823)

Atypical elliptocytosis (HP:0004822)

Hypersegmentation of neutrophil nuclei (HP:0004821)

Acute myelomonocytic leukemia (HP:0004820)

Reduced factor XII activity (HP:0004841)

Severe short stature (HP:0003510)

Hypochromic microcytic anemia (HP:0004840)

Proportionate short stature (HP:0003508)

Pyropoikilocytosis (HP:0004839)

Acute promyelocytic leukemia (HP:0004836)

Microspherocytosis (HP:0004835)

Mild short stature (HP:0003502)

Recurrent thromboembolism (HP:0004831)

Neonatal alloimmune thrombocytopenia (HP:0004809)

Acute myeloid leukemia (HP:0004808)

Congenital hemolytic anemia (HP:0004804)

Episodic hemolytic anemia (HP:0004802)

Duodenal diverticula (HP:0004800)

Normocytic hypoplastic anemia (HP:0004819)

Paroxysmal nocturnal hemoglobinuria (HP:0004818)

Drug-sensitive hemolytic anemia (HP:0004817)

Fava bean-induced hemolytic anemia (HP:0004814)

Post-transfusion thrombocytopenia (HP:0004813)

B Acute Lymphoblastic Leukemia (HP:0004812)

Congenital hypoplastic anemia (HP:0004810)

Degeneration of anterior horn cells (HP:0002398)

Abnormality of digestive system morphology (HP:0025033)

Striae distensae (HP:0001065)

Abnormality of digestive system physiology (HP:0025032)

Abnormality of the digestive system (HP:0025031)

Cogwheel rigidity (HP:0002396)

Neurofibromas (HP:0001067)

Enteric neuronal degeneration (HP:0025030)

Atypical nevus (HP:0001062)

Hypothalamic gliosis (HP:0025037)

Acne (HP:0001061)

Lower limb hyperreflexia (HP:0002395)

EEG with polyspike wave complexes (HP:0002392)

Abnormal proerythroblast morphology (HP:0025035)

Acrocyanosis (HP:0001063)

Abnormal morphology of erythroid progenitor cell (HP:0025034)

Spinal arteriovenous malformation (HP:0002390)

Axillary pterygium (HP:0001060)

Abnormality of enteric neuron morphology (HP:0025029)

Abnormality of enteric nervous system morphology (HP:0025028)

Osteoma cutis (HP:0025027)

Pterygium (HP:0001059)

Poor wound healing (HP:0001058)

Cavum septum pellucidum (HP:0002389)

Decreased erythrocyte sedimentation rate (HP:0025022)

Glabellar hemangioma (HP:0001076)

Abnormal erythrocyte sedimentation rate (HP:0025021)

Elevated prostate-specific antigen level (HP:0025020)

Cigarette-paper scars (HP:0001073)

H-type rectovestibular fistula (HP:0025026)

Thickened skin (HP:0001072)

Rectovestibular fistula (HP:0025025)

Atrophic scars (HP:0001075)

Megarectum (HP:0025024)

Atypical nevi in non-sun exposed areas (HP:0001074)

Rectal atresia (HP:0025023)

Angiokeratoma corporis diffusum (HP:0001071)

Mottled pigmentation (HP:0001070)

Arterial rupture (HP:0025019)

Abnormal capillary physiology (HP:0025018)

Capillary fragility (HP:0025017)

Abnormal capillary morphology (HP:0025016)

Episodic hyperhidrosis (HP:0001069)

Developmental regression (HP:0002376)

Pyriform aperture stenosis (HP:0025011)

Prominent scalp veins (HP:0001043)

obsolete Paraganglioma-related cranial nerve palsy (HP:0002377)

Foveal atrophy (HP:0025010)

Intermittent jaundice (HP:0001046)

Diminished movement (HP:0002374)

Vitiligo (HP:0001045)

Hypokinesia (HP:0002375)

Multiple pterygia (HP:0001040)

Normal interictal EEG (HP:0002372)

Abnormal vascular morphology (HP:0025015)

Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)

Subcutaneous spheroids (HP:0025014)

High axial triradius (HP:0001042)

Poor coordination (HP:0002370)

Decerebrate rigidity (HP:0025013)

Facial erythema (HP:0001041)

Loss of speech (HP:0002371)

Status cribrosum (HP:0025012)

Tracheal tug on inspiration (HP:0025008)

Ectopic fovea (HP:0025007)

Abnormal glomerular capillary morphology (HP:0025006)

Thickening of glomerular capillary wall (HP:0025005)

Parakeratosis (HP:0001036)

Atheroeruptive xanthoma (HP:0001039)

Visual hallucinations (HP:0002367)

Difficulty standing (HP:0003698)

Warfarin-induced skin necrosis (HP:0001038)

Forward slanting upper incisors (HP:0025009)

Erysipelas (HP:0001055)

Numerous nevi (HP:0001054)

Aplasia cutis congenita (HP:0001057)

Paraparesis (HP:0002385)

Milia (HP:0001056)

Seborrheic dermatitis (HP:0001051)

Infectious encephalitis (HP:0002383)

Hallux rigidus (HP:0025004)

Plethora (HP:0001050)

Focal impaired awareness seizure (HP:0002384)

Hypopigmented skin patches (HP:0001053)

Aphasia (HP:0002381)

Nevus flammeus (HP:0001052)

Fasciculations (HP:0002380)

Penoscrotal transposition (HP:0100600)

Toxemia of pregnancy (HP:0100603)

Neoplasm of the lip (HP:0100604)

Eclampsia (HP:0100601)

Preeclampsia (HP:0100602)

Dysmenorrhea (HP:0100607)

Metrorrhagia (HP:0100608)

Neoplasm of the larynx (HP:0100605)

Neoplasm of the respiratory system (HP:0100606)

Cavernous hemangioma (HP:0001048)

Atopic dermatitis (HP:0001047)

Hand tremor (HP:0002378)

obsolete Hypermenorrhea (HP:0100609)

Absent dorsal skin creases over affected joints (HP:0001049)

Albinism (HP:0001022)

Memory impairment (HP:0002354)

Difficulty walking (HP:0002355)

Skin dimple over apex of long bone angulation (HP:0001024)

Leukoencephalopathy (HP:0002352)

Large beaked nose (HP:0003683)

EEG abnormality (HP:0002353)

Cerebellar cyst (HP:0002350)

Variable progression rate (HP:0003682)

Nonprogressive (HP:0003680)

Erythroderma (HP:0001019)

Abnormal palmar dermatoglyphics (HP:0001018)

Focal aware seizure (HP:0002349)

Prominent superficial veins (HP:0001015)

Rapidly progressive (HP:0003678)

Angiokeratoma (HP:0001014)

Pace of progression (HP:0003679)

Anemic pallor (HP:0001017)

Action tremor (HP:0002345)

Progressive (HP:0003676)

Head tremor (HP:0002346)

Slowly progressive (HP:0003677)

Facial flushing after alcohol intake (HP:0001033)

Hypoplasia of the brainstem (HP:0002365)

Absent epiphysis of the distal phalanx of the 5th finger (HP:0003696)

Absent distal interphalangeal creases (HP:0001032)

Abnormal lower motor neuron morphology (HP:0002366)

Scapuloperoneal amyotrophy (HP:0003697)

Abnormal brainstem morphology (HP:0002363)

Late-onset proximal muscle weakness (HP:0003694)

Hypermelanotic macule (HP:0001034)

Psychomotor deterioration (HP:0002361)

Shuffling gait (HP:0002362)

Distal amyotrophy (HP:0003693)

Subcutaneous lipoma (HP:0001031)

Limb muscle weakness (HP:0003690)

Fragile skin (HP:0001030)

Sleep disturbance (HP:0002360)

Scapular winging (HP:0003691)

Poikiloderma (HP:0001029)

Penetrating foot ulcers (HP:0001026)

Multiple mitochondrial DNA deletions (HP:0003689)

Urticaria (HP:0001025)

Frequent falls (HP:0002359)

Hemangioma (HP:0001028)

Writer's cramp (HP:0002356)

Centrally nucleated skeletal muscle fibers (HP:0003687)

Soft, doughy skin (HP:0001027)

Dysphasia (HP:0002357)

Cytochrome C oxidase-negative muscle fibers (HP:0003688)

Abnormality of skin pigmentation (HP:0001000)

Lack of peer relationships (HP:0002332)

Motor deterioration (HP:0002333)

obsolete Decreased subcutaneous fat (HP:0001002)

Paroxysmal drowsiness (HP:0002330)

Slender long bones with narrow diaphyses (HP:0004993)

Abnormality of subcutaneous fat tissue (HP:0001001)

Recurrent paroxysmal headache (HP:0002331)

Rhizomelic arm shortening (HP:0004991)

Epiphyseal streaking (HP:0004990)

Drowsiness (HP:0002329)

Hypomethioninemia (HP:0003658)

Decreased beta-glucocerebrosidase level (HP:0003656)

Transient ischemic attack (HP:0002326)

Granular osmiophilic deposits (GROD) in cells (HP:0003657)

Mesomelic leg shortening (HP:0004987)

Anencephaly (HP:0002323)

Reduced dihydropyrimidine dehydrogenase level (HP:0003654)

obsolete Rudimentary to absent fibulae (HP:0004986)

Hydranencephaly (HP:0002324)

Reduced level of N-acetylglucosaminyltransferase II (HP:0003655)

obsolete Diaphoresis (with pheochromocytoma) (HP:0001011)

Normal pressure hydrocephalus (HP:0002343)

Onset (HP:0003674)

Hypopigmentation of the skin (HP:0001010)

Progressive neurologic deterioration (HP:0002344)

Eruptive xanthomas (HP:0001013)

Cervical cord compression (HP:0002341)

Multiple lipomas (HP:0001012)

Intellectual disability, moderate (HP:0002342)

Caudate atrophy (HP:0002340)

Accumulation of melanosomes in melanocytes (HP:0001008)

Hirsutism (HP:0001007)

Telangiectasia (HP:0001009)

Abnormal caudate nucleus morphology (HP:0002339)

Lymphedema (HP:0001004)

Multiple lentigines (HP:0001003)

obsolete Hypotrichosis (HP:0001006)

Abnormal cerebellar vermis morphology (HP:0002334)

Amyotrophy of the musculature of the pelvis (HP:0003665)

Multicentric ossification of proximal humeral epiphyses (HP:0004997)

Dermatological manifestations of systemic disorders (HP:0001005)

Agenesis of cerebellar vermis (HP:0002335)

Trigeminal neuralgia (HP:0100661)

Chondritis (HP:0100662)

Dyskinesia (HP:0100660)

Retrobulbar optic neuritis (HP:0100654)

Optic neuritis (HP:0100653)

Cellulitis (HP:0100658)

Abnormal cerebral vascular morphology (HP:0100659)

Thoracoabdominal wall defect (HP:0100656)

Thoracoabdominal eventration (HP:0100657)

Vaginal hernia (HP:0100672)

Vaginal hydrocele (HP:0100673)

Coarse metaphyseal trabecularization (HP:0100670)

Abnormal trabecular bone morphology (HP:0100671)

Angioedema (HP:0100665)

Synotia (HP:0100663)

Abnormal pigmentation of the oral mucosa (HP:0100669)

Intestinal duplication (HP:0100668)

Dysgenesis of the thalamus (HP:0025099)

Dysgenesis of the hypothalamus (HP:0025098)

Eyelid myoclonus (HP:0025097)

Paroxysmal sneezing (HP:0025096)

Abnormal large intestinal mucosa morphology (HP:0025090)

Sneeze (HP:0025095)

Disciform macular scar (HP:0025094)

Salivary gland neoplasm (HP:0100684)

Peripapillary exudate (HP:0025093)

Esophageal duplication (HP:0100681)

Epidermal acanthosis (HP:0025092)

Tracheal atresia (HP:0100682)

Vaginal lymphocele (HP:0100676)

Vulval varicose vein (HP:0100677)

Vaginal hematocele (HP:0100674)

Vaginal pyocele (HP:0100675)

Premature skin wrinkling (HP:0100678)

Lack of skin elasticity (HP:0100679)

Onychomadesis (HP:0025088)

Delayed recoil upon stretching of skin (HP:0025087)

Bloody mucoid diarrhea (HP:0025086)

Bloody diarrhea (HP:0025085)

Feculent vomiting (HP:0025089)

Orthokeratotic hyperkeratosis (HP:0025080)

Mosaic central corneal dystrophy (HP:0100690)

Abnormality of the curvature of the cornea (HP:0100691)

Folliculitis (HP:0025084)

Tibial torsion (HP:0100694)

Elevated dermal desmosine content (HP:0025083)

Lipedema (HP:0100695)

Increased corneal curvature (HP:0100692)

Abnormal cutaneous elastic fiber morphology (HP:0025082)

Darier's sign (HP:0025081)

Iridodonesis (HP:0100693)

Polyotia (HP:0100687)

Abnormal Sharpey fiber morphology (HP:0100685)

Enthesitis (HP:0100686)

Decreased corneal thickness (HP:0100689)

Decreased QRS voltage (HP:0025077)

Abnormal QRS voltage (HP:0025076)

Increased QRS voltage (HP:0025075)

Abnormal QRS complex (HP:0025074)

Pancreatic abscess (HP:0025079)

Electrical alternans (HP:0025078)

Exercise-induced U wave inversion (HP:0025073)

Prominent U wave (HP:0025072)

U wave inversion (HP:0025071)

Abnormal U wave (HP:0025070)

Maternal hyperphenylalaninemia (HP:0100610)

Multiple glomerular cysts (HP:0100611)

Myositis (HP:0100614)

Ovarian neoplasm (HP:0100615)

Odontogenic neoplasm (HP:0100612)

Death in early adulthood (HP:0100613)

Leydig cell neoplasia (HP:0100618)

Sertoli cell neoplasm (HP:0100619)

Testicular teratoma (HP:0100616)

Testicular seminoma (HP:0100617)

Decreased mean corpuscular volume (HP:0025066)

Abnormal mean corpuscular volume (HP:0025065)

Thalamic hemorrhage (HP:0025064)

Scaphoid abdomen (HP:0025063)

Concomitant strabismus (HP:0025069)

Incomitant strabismus (HP:0025068)

Geophagia (HP:0025062)

Unifocal splenic abscess (HP:0025061)

Multifocal splenic abscess (HP:0025060)

Dysgerminoma (HP:0100621)

Maternal seizure (HP:0100622)

Germinoma (HP:0100620)

Enlarged thorax (HP:0100625)

Chronic hepatic failure (HP:0100626)

Abnormality of corpus cavernosum (HP:0100623)

Corpus cavernosum sclerosis (HP:0100624)

Midline facial cleft (HP:0100629)

Displacement of the urethral meatus (HP:0100627)

Esophageal diverticulum (HP:0100628)

Brushfield spots (HP:0001088)

Developmental glaucoma (HP:0001087)

Elevated brain N-acetyl aspartate level by MRS (HP:0025053)

Iris atrophy (HP:0001089)

Abnormal brain N-acetyl aspartate level by MRS (HP:0025052)

Corneal arcus (HP:0001084)

Splenic abscess (HP:0025059)

Ectopia lentis (HP:0001083)

Hypothalamic atrophy (HP:0025058)

Abnormality of olfactory lobe morphology (HP:0025057)

Papilledema (HP:0001085)

Biliary tract abnormality (HP:0001080)

Cholecystitis (HP:0001082)

Cholelithiasis (HP:0001081)

Reduced brain creatine level by MRS (HP:0025051)

Elevated brain creatine level by MRS (HP:0025050)

Laryngeal cyst (HP:0100640)

Pulmonary sequestration (HP:0100632)

Esophagitis (HP:0100633)

Neoplasia of the nasopharynx (HP:0100630)

Neoplasm of the adrenal gland (HP:0100631)

Pulmonary paraglioma (HP:0100636)

obsolete Neoplasia of the nose (HP:0100637)

Neuroendocrine neoplasm (HP:0100634)

Carotid paraganglioma (HP:0100635)

Neoplasm of the pharynx (HP:0100638)

Erectile dysfunction (HP:0100639)

Abnormal brain creatine level by MRS (HP:0025049)

Fundus atrophy (HP:0001099)

Lung abscess (HP:0025044)

Abnormal fundus morphology (HP:0001098)

Enlarged mesenteric lymph node (HP:0025043)

Abnormality of mesenteric lymph nodes (HP:0025042)

Thalamic calcification (HP:0025041)

Hypertensive retinopathy (HP:0001095)

Reduced brain choline level by MRS (HP:0025048)

Iridocyclitis (HP:0001094)

Abnormal brain choline level by MRS (HP:0025047)

Keratoconjunctivitis sicca (HP:0001097)

Reduced brain lactate level by MRS (HP:0025046)

Keratoconjunctivitis (HP:0001096)

Abnormal brain lactate level by MRS (HP:0025045)

Abnormally large globe (HP:0001090)

Optic nerve dysplasia (HP:0001093)

Absent lacrimal punctum (HP:0001092)

Thalamic edema (HP:0025040)

Vaginal neoplasm (HP:0100650)

Type I diabetes mellitus (HP:0100651)

Abnormality of nail color (HP:0100643)

Melanonychia (HP:0100644)

Neoplasm of the adrenal cortex (HP:0100641)

Neoplasm of the adrenal medulla (HP:0100642)

Graves disease (HP:0100647)

Neoplasm of the tongue (HP:0100648)

Cystocele (HP:0100645)

Thyroiditis (HP:0100646)

Basal ganglia edema (HP:0025039)

Neoplasm of the oral cavity (HP:0100649)

Intratesticular abscess (HP:0025038)

Subcutaneous neurofibromas (HP:0100698)

Scarring (HP:0100699)

Neurofibrosarcoma (HP:0100697)

Orofacial dyskinesia (HP:0002310)

Hemoglobinuria (HP:0003641)

Incoordination (HP:0002311)

Type I transferrin isoform profile (HP:0003642)

Elevated mean arterial pressure (HP:0004972)

Pulmonary artery hypoplasia (HP:0004971)

CNS foam cells (HP:0003640)

Ascending tubular aorta aneurysm (HP:0004970)

Drooling (HP:0002307)

Chiari malformation (HP:0002308)

Elevated urinary epinephrine (HP:0003639)

Peripheral pulmonary artery stenosis (HP:0004969)

Athetosis (HP:0002305)

Recurrent cerebral hemorrhage (HP:0004968)

Reduced 4-Hydroxyphenylpyruvate dioxygenase level (HP:0003637)

Amyoplasia (HP:0003634)

Medial calcification of large arteries (HP:0004966)

Akinesia (HP:0002304)

Loss of subcutaneous adipose tissue in limbs (HP:0003635)

Hemiplegia (HP:0002301)

Pulmonary arterial medial hypertrophy (HP:0004964)

Calcification of the aorta (HP:0004963)

Vertigo (HP:0002321)

Recurrent myoglobinuria (HP:0003652)

Resting tremor (HP:0002322)

Cellular metachromasia (HP:0003653)

Foam cells (HP:0003651)

Prominent styloid process of ulna (HP:0004981)

Metaphyseal rarefaction (HP:0004980)

Cervical myelopathy (HP:0002318)

Abnormality of glycoside metabolism (HP:0003649)

Electron transfer flavoprotein-ubiquinone oxidoreductase defect (HP:0003647)

Metaphyseal sclerosis (HP:0004979)

Unsteady gait (HP:0002317)

Lacticaciduria (HP:0003648)

Degeneration of the lateral corticospinal tracts (HP:0002314)

Prolonged partial thromboplastin time (HP:0003645)

Bilateral radial aplasia (HP:0004977)

Headache (HP:0002315)

Bicarbonaturia (HP:0003646)

Knee dislocation (HP:0004976)

Clumsiness (HP:0002312)

Sulfite oxidase deficiency (HP:0003643)

Erlenmeyer flask deformity of the femurs (HP:0004975)

Spastic paraparesis (HP:0002313)

Coarctation of abdominal aorta (HP:0004974)

Peripheral arterial stenosis (HP:0004950)

Premature separation of centromeric heterochromatin (HP:0003616)

Vascular tortuosity (HP:0004948)

Arteriovenous fistula (HP:0004947)

Trimethylaminuria (HP:0003614)

Extracranial internal carotid artery dissection (HP:0004945)

Positive ferric chloride test (HP:0003612)

Dilatation of the cerebral artery (HP:0004944)

Antiphospholipid antibody positivity (HP:0003613)

Accelerated atherosclerosis (HP:0004943)

Fibroblast metachromasia (HP:0003610)

Aortic aneurysm (HP:0004942)

Extrahepatic portal hypertension (HP:0004941)

Thoracic aorta calcification (HP:0004962)

Mutism (HP:0002300)

Pulmonary artery sling (HP:0004961)

Absent pulmonary artery (HP:0004960)

Descending thoracic aorta aneurysm (HP:0004959)

Neonatal onset (HP:0003623)

Generalized arterial tortuosity (HP:0004955)

obsolete Dilatation of the descending aorta (HP:0004954)

Juvenile onset (HP:0003621)

obsolete Dilatation of abdominal aorta (HP:0004953)

Pulmonary arteriovenous fistulas (HP:0004952)

obsolete Coronary atherosclerosis (HP:0004929)

obsolete Peripheral arterial stenosis (HP:0004928)

Pulmonary artery dilatation (HP:0004927)

Orthostatic hypotension due to autonomic dysfunction (HP:0004926)

Chronic lactic acidosis (HP:0004925)

Abnormal oral glucose tolerance (HP:0004924)

Hyperphenylalaninemia (HP:0004923)

Atypical hyperphenylalaninemia (HP:0004922)

Abnormal magnesium concentration (HP:0004921)

Phenylpyruvic acidemia (HP:0004920)

Generalized arterial calcification (HP:0004940)

Foam cells with lamellar inclusion bodies (HP:0003609)

4-hydroxyphenylacetic aciduria (HP:0003607)

Tortuous cerebral arteries (HP:0004938)

Pulmonary artery aneurysm (HP:0004937)

Venous thrombosis (HP:0004936)

Absent urinary urothione (HP:0003606)

Pulmonary artery atresia (HP:0004935)

Vascular calcification (HP:0004934)

Ascending aortic dissection (HP:0004933)

Arteriosclerosis of small cerebral arteries (HP:0004931)

Abnormality of the pulmonary vasculature (HP:0004930)

Hypokalemic hypochloremic metabolic alkalosis (HP:0004909)

Hypernatremic dehydration (HP:0004906)

Low levels of vitamin A (HP:0004905)

Maturity-onset diabetes of the young (HP:0004904)

Congenital lactic acidosis (HP:0004902)

Exercise-induced lactic acidemia (HP:0004901)

Severe lactic acidosis (HP:0004900)

Galactose intolerance (HP:0004919)

Hyperchloremic metabolic acidosis (HP:0004918)

Generalized distal tubular acidosis (HP:0004916)

Impairment of galactose metabolism (HP:0004915)

Recurrent infantile hypoglycemia (HP:0004914)

Intermittent lactic acidemia (HP:0004913)

Hypophosphatemic rickets (HP:0004912)

Episodic metabolic acidosis (HP:0004911)

Bicarbonate-wasting renal tubular acidosis (HP:0004910)

Osteolytic defects of the proximal phalanx of the hallux (HP:0010089)

Partial duplication of the proximal phalanx of the hallux (HP:0010095)

Complete duplication of the proximal phalanx of the hallux (HP:0010094)

Duplication of the proximal phalanx of the hallux (HP:0010093)

Triangular shaped proximal phalanx of the hallux (HP:0010092)

Partial duplication of the 1st metatarsal (HP:0010099)

Complete duplication of the 1st metatarsal (HP:0010098)

Partial duplication of the distal phalanx of the hallux (HP:0010097)

Complete duplication of the distal phalanx of the hallux (HP:0010096)

Symphalangism affecting the proximal phalanx of the hallux (HP:0010091)

Patchy sclerosis of the proximal phalanx of the hallux (HP:0010090)

Curved distal phalanx of the hallux (HP:0010079)

Bullet-shaped distal phalanx of the hallux (HP:0010078)

obsolete Facial diplegic appearance (HP:0009090)

Progressive alveolar ridge hypertropy (HP:0009092)

Duplication of the distal phalanx of the hallux (HP:0010084)

Cleft lower alveolar ridge (HP:0009094)

Triangular shaped distal phalanx of the hallux (HP:0010083)

Symphalangism affecting the distal phalanx of the hallux (HP:0010082)

Patchy sclerosis of the distal phalanx of the hallux (HP:0010081)

Median cleft palate (HP:0009099)

Curved proximal phalanx of the hallux (HP:0010088)

Chronic oral candidiasis (HP:0009098)

Bullet-shaped proximal phalanx of the hallux (HP:0010087)

Broad proximal phalanx of the hallux (HP:0010086)

Aplasia/Hypoplasia of the proximal phalanx of the hallux (HP:0010085)

Osteolytic defects of the distal phalanx of the hallux (HP:0010080)

Bullet-shaped 1st metatarsal (HP:0010069)

Broad first metatarsal (HP:0010068)

Tibialis atrophy (HP:0011399)

Aplasia/hypoplasia of the 1st metatarsal (HP:0010067)

obsolete Central hypotonia (HP:0011398)

Midline notch of upper alveolar ridge (HP:0009084)

Synostosis involving the 1st metatarsal (HP:0010073)

Patchy sclerosis of the 1st metatarsal (HP:0010072)

Osteolytic defects of the 1st metatarsal (HP:0010071)

Alveolar ridge overgrowth (HP:0009085)

Curved 1st metatarsal (HP:0010070)

Speech articulation difficulties (HP:0009088)

Broad distal phalanx of the hallux (HP:0010077)

Posteriorly placed tongue (HP:0009087)

Aplasia/Hypoplasia of the distal phalanx of the hallux (HP:0010076)

Duplication of the 1st metatarsal (HP:0010075)

Triangular shaped 1st metatarsal (HP:0010074)

Elevated circulating sacchoropine concentration (HP:0034026)

Abnormal circulating GABA concentration (HP:0034025)

Saccharopinuria (HP:0034028)

Abnormal urinary non-proteinogenic amino acid level (HP:0034027)

Hepatic foam cells (HP:0034029)

Facial cyanosis (HP:0034031)

Lip cyanosis (HP:0034030)

Peripheral cyanosis (HP:0034033)

Central cyanosis (HP:0034032)

Pharyngeal exudate (HP:0034035)

Differential cyanosis (HP:0034034)

Pseudo-chilblains on fingers (HP:0034037)

Pseudo-chilblains on toes (HP:0034036)

Ventricular couplet (HP:0034039)

Silent hypoxemia (HP:0034038)

Bidirectional ventricular tachycardia (HP:0034040)

Dorsal hirsutism (HP:0034042)

Ventricular ectopy (HP:0034041)

Trident pelvis (HP:0034044)

Increased fecal bile acid (HP:0034043)

Mandibular osteolysis (HP:0034046)

Angulated muscle fibers (HP:0034045)

Decreased circulating chenodeoxycholic acid concentration (HP:0034048)

Rib osteolysis (HP:0034047)

Elevated urinary prostaglandin E2 level (HP:0034049)

Hypoplastic anterior limbs of the internal capsule (HP:0034051)

Elevated urinary prostaglandin E2 metabolite level (HP:0034050)

Decreased acid ceramidase activity (HP:0034053)

Impaired toe-walking ability (HP:0034052)

Anti-side-chain cleavage enzyme antibody positivity (HP:0034055)

Probst bundles (HP:0034054)

Fetal anomaly (HP:0034057)

Increased fecal calprotectin level (HP:0034056)

Abnormal fetal physiology (HP:0034059)

Abnormal fetal morphology (HP:0034058)

Anti-insulin antibody positivity (HP:0034062)

Anti-steroid 17alpha-hydroxylase antibody positivity (HP:0034061)

Anti-salivary protein antibody positivity (HP:0034064)

Anti-islet antigen-2 antibody positivity (HP:0034063)

Anti-carbonic anhydrase VI antibody positivity (HP:0034066)

Anti-Zinc transporter 8 antibody positivity (HP:0034065)

Anti-plasminogen binding peptide antibody positivity (HP:0034068)

Tonofilament clumping (HP:0034067)

Triggered by fava bean ingestion (HP:0034060)

Anti-parotid secretory protein antibody positivity (HP:0034069)

Reduced fetal long bone echogenicity (HP:0034073)

Abnormal fetal long-bone echogenicity (HP:0034072)

Decreased circulating apolipoprotein B concentration (HP:0034075)

Increased fetal long bone echogenicity (HP:0034074)

Anti-complement component C1q antibody positivity (HP:0034077)

Anti-ribosome Po antibody positivity (HP:0034076)

Anti-centromere protein B antibody positivity (HP:0034079)

Anti-centromere protein A antibody positivity (HP:0034078)

Anti-21-hydroxylase antibody positivity (HP:0034071)

Anti-enterocyte antibody positivity (HP:0034070)

Anti-phosphatidyl ethanolamine antibody positivity (HP:0034084)

Anti-nucleolus-organizing region antibody positivity (HP:0034083)

Anti-PM-Scl75 antibody positivity (HP:0034086)

Anti-PM-Scl100 antibody positivity (HP:0034085)

Anti-Ku antibody positivity (HP:0034088)

Anti-U11/U12 RNP antibody positivity (HP:0034087)

Anti-B23 antibody positivity (HP:0034089)

Anti-U3 RNP antibody positivity (HP:0034080)

Anti-bicaudal D2 antibody positivity (HP:0034082)

Anti-Th/To antibody positivity (HP:0034081)

Anti-endothelin-1 type A receptor antibody positivity (HP:0034095)

Anti-angiotensin receptor type-1 antibody positivity (HP:0034094)

Anti-phosphatidyl choline antibody positivity (HP:0034097)

Anti-phosphatidic acid antibody positivity (HP:0034096)

Anti-phosphatidyl inositol antibody positivity (HP:0034099)

Anti-phosphatidyl glycerol antibody positivity (HP:0034098)

Anti-platelet derived growth factor receptor (HP:0034091)

Anti-RuvBL1/2 antibody positivity (HP:0034090)

Anti-Ro52/TRIM21 antibody positivity (HP:0034093)

Anti-cyclic citrullinated peptide antibody positivity (HP:0034092)

Tapered toe (HP:0011309)

Abnormal amplitude of pattern reversal visual evoked potentials (HP:0000650)

Schistocytosis (HP:0001981)

Slender toe (HP:0011308)

Megaloblastic bone marrow (HP:0001980)

Splayed toes (HP:0011307)

Abnormal nervous system physiology (HP:0012638)

Abnormal nervous system morphology (HP:0012639)

Long palm (HP:0011302)

Iris pigment dispersion (HP:0012634)

Absent foot (HP:0011301)

Iris hypoperfusion (HP:0012635)

Broad fingertip (HP:0011300)

Retinal vein occlusion (HP:0012636)

Renal calcium wasting (HP:0012637)

Abnormal trabecular meshwork morphology (HP:0012630)

Partial absence of toe (HP:0011305)

Pigment deposition in the trabecular meshwork (HP:0012631)

Broad thumb (HP:0011304)

Abnormal intraocular pressure (HP:0012632)

Asymmetry of intraocular pressure (HP:0012633)

Convex contour of sole (HP:0011303)

Abnormality of intracranial pressure (HP:0012640)

Abnormality of visual evoked potentials (HP:0000649)

Optic atrophy (HP:0000648)

Reduced antithrombin III activity (HP:0001976)

Decreased platelet glycoprotein IIb-IIIa (HP:0001975)

Sclerocornea (HP:0000647)

Extramedullary hematopoiesis (HP:0001978)

Amblyopia (HP:0000646)

Abnormal thrombosis (HP:0001977)

Dysmetric saccades (HP:0000641)

Macrocytic anemia (HP:0001972)

Gaze-evoked nystagmus (HP:0000640)

Hypersplenism (HP:0001971)

Blepharospasm (HP:0000643)

Leukocytosis (HP:0001974)

Red-green dyschromatopsia (HP:0000642)

Autoimmune thrombocytopenia (HP:0001973)

Palpebral fissure narrowing on adduction (HP:0000661)

Organic aciduria (HP:0001992)

Lipemia retinalis (HP:0000660)

Aplasia/Hypoplasia of toe (HP:0001991)

Pseudoexfoliation (HP:0012627)

Abnormal suspensory ligament of lens morphology (HP:0012628)

Phakodonesis (HP:0012629)

Stage 1 chronic kidney disease (HP:0012623)

Stage 2 chronic kidney disease (HP:0012624)

Stage 3 chronic kidney disease (HP:0012625)

Stage 4 chronic kidney disease (HP:0012626)

Cloacal abnormality (HP:0012620)

Persistent cloaca (HP:0012621)

Chronic kidney disease (HP:0012622)

Peters anomaly (HP:0000659)

Ectropion (HP:0000656)

Hyperammonemia (HP:0001987)

obsolete Vitreoretinal degeneration (HP:0000655)

Hypertonic dehydration (HP:0001986)

Eyelid apraxia (HP:0000658)

Fetal akinesia sequence (HP:0001989)

Oculomotor apraxia (HP:0000657)

Recurrent hypoglycemia (HP:0001988)

Lower eyelid coloboma (HP:0000652)

Reduced lymphocyte surface expression of CD43 (HP:0001983)

Diplopia (HP:0000651)

Sea-blue histiocytosis (HP:0001982)

Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)

Hypoketotic hypoglycemia (HP:0001985)

Sparse eyelashes (HP:0000653)

Intolerance to protein (HP:0001984)

Leukocyte cylindruria (HP:0012616)

Erythrocyte cylindruria (HP:0012617)

Urachal cyst (HP:0012618)

Multiple bladder diverticula (HP:0012619)

Abnormal urinary sulfate concentration (HP:0012612)

Increased urinary sulfate (HP:0012613)

Abnormal urine cytology (HP:0012614)

Cylindruria (HP:0012615)

Abnormality of urinary uric acid level (HP:0012610)

Increased urinary urate (HP:0012611)

Posterior embryotoxon (HP:0000627)

Nonketotic hypoglycemia (HP:0001958)

Periorbital fullness (HP:0000629)

Polydipsia (HP:0001959)

Supranuclear ophthalmoplegia (HP:0000623)

Recurrent fever (HP:0001954)

Blurred vision (HP:0000622)

Diabetic ketoacidosis (HP:0001953)

Eyelid coloboma (HP:0000625)

Truncal obesity (HP:0001956)

Unexplained fevers (HP:0001955)

Respiratory alkalosis (HP:0001950)

Entropion (HP:0000621)

Glucose intolerance (HP:0001952)

Dacryocystitis (HP:0000620)

Episodic ammonia intoxication (HP:0001951)

Hypomagnesiuria (HP:0012609)

Tubulointerstitial nephritis (HP:0001970)

Hypernatriuria (HP:0012605)

Renal sodium wasting (HP:0012606)

Abnormal urine magnesium concentration (HP:0012607)

Hypermagnesiuria (HP:0012608)

Hypochloriduria (HP:0012601)

Renal chloride wasting (HP:0012602)

Abnormal urine sodium concentration (HP:0012603)

Hyponatriuria (HP:0012604)

Abnormal urine chloride concentration (HP:0012600)

Abnormal tubulointerstitial morphology (HP:0001969)

Long palpebral fissure (HP:0000637)

Nystagmus (HP:0000639)

Impaired ocular abduction (HP:0000634)

Abnormal scalp morphology (HP:0001965)

Decreased lacrimation (HP:0000633)

Aplasia/Hypoplasia of metatarsal bones (HP:0001964)

Upper eyelid coloboma (HP:0000636)

Diffuse mesangial sclerosis (HP:0001967)

Blue irides (HP:0000635)

Abnormal glomerular mesangium morphology (HP:0001966)

Abnormal retinal artery morphology (HP:0000630)

Hypoplastic heart (HP:0001961)

Hypokalemic metabolic alkalosis (HP:0001960)

Lacrimation abnormality (HP:0000632)

Abnormal speech discrimination (HP:0001963)

Retinal arterial tortuosity (HP:0000631)

Palpitations (HP:0001962)

Optic nerve hypoplasia (HP:0000609)

Macular degeneration (HP:0000608)

Abnormality of metabolism/homeostasis (HP:0001939)

Supranuclear gaze palsy (HP:0000605)

Microcytic anemia (HP:0001935)

Periorbital wrinkles (HP:0000607)

Abnormality of the periorbital region (HP:0000606)

Microangiopathic hemolytic anemia (HP:0001937)

Hypotelorism (HP:0000601)

Abnormality of the pharynx (HP:0000600)

Hypochromic anemia (HP:0001931)

Central scotoma (HP:0000603)

Persistent bleeding after trauma (HP:0001934)

Ophthalmoplegia (HP:0000602)

Subcutaneous hemorrhage (HP:0001933)

Nonspherocytic hemolytic anemia (HP:0001930)

Impaired convergence (HP:0000619)

Miosis (HP:0000616)

Renal tubular acidosis (HP:0001947)

Tracheal hemorrhage (HP:0034000)

Abnormal pupil morphology (HP:0000615)

Ketosis (HP:0001946)

Blindness (HP:0000618)

Hypokalemic alkalosis (HP:0001949)

Anti-phospholipase A2 receptor antibody positivity (HP:0034002)

Abnormality of ocular smooth pursuit (HP:0000617)

Alkalosis (HP:0001948)

Anti-Complement factor H antibody positivity (HP:0034001)

Iris coloboma (HP:0000612)

Hypoglycemia (HP:0001943)

obsolete Choroid coloboma (HP:0000611)

Metabolic acidosis (HP:0001942)

Abnormal nasolacrimal system morphology (HP:0000614)

Fever (HP:0001945)

Photophobia (HP:0000613)

Dehydration (HP:0001944)

Abnormal choroid morphology (HP:0000610)

Acidosis (HP:0001941)

Parosmia (HP:0034004)

Broad medial eyebrow (HP:0034003)

Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio (HP:0034006)

Decreased dendritic spine number (HP:0034005)

Opto-chiasmatic atrophy (HP:0034008)

Posterior atrophy of corpus callosum (HP:0034007)

Pelvic lipomatosis (HP:0034009)

Renal amyloidosis (HP:0001917)

Acute kidney injury (HP:0001919)

Reduced progressive sperm motility (HP:0034011)

Granulocytopenia (HP:0001913)

Increased megakaryocyte colony forming unit count (HP:0034010)

Curvilinear pericallosal lipoma (HP:0034013)

Aplastic anemia (HP:0001915)

Palmoplantar hypohidrosis (HP:0034012)

Abnormal basophil morphology (HP:0001912)

Abnormal granulocyte morphology (HP:0001911)

Cavitating pulmonary nodule (HP:0034015)

Tubulonodular pericallosal lipoma (HP:0034014)

Anti-class I HLA antibody positivity (HP:0034017)

Anti-HLA antibody positivity (HP:0034016)

Anti-HLA-A antibody positivity (HP:0034019)

Anti-class II HLA antibody positivity (HP:0034018)

Reduced factor XI activity (HP:0001929)

Abnormality of coagulation (HP:0001928)

Anti-HLA-A IgG1 antibody positivity (HP:0034020)

Anti-HLA-B antibody positivity (HP:0034022)

Sideroblastic anemia (HP:0001924)

Anti-HLA-A IgG3 antibody positivity (HP:0034021)

Acanthocytosis (HP:0001927)

Anti-HLA-B IgG3 antibody positivity (HP:0034024)

Anti-HLA-B IgG1 antibody positivity (HP:0034023)

Renal artery stenosis (HP:0001920)

Reticulocytosis (HP:0001923)

Vacuolated lymphocytes (HP:0001922)

Broad hallux phalanx (HP:0010059)

Functional abnormality of the inner ear (HP:0011389)

Aplasia/Hypoplasia of the phalanges of the hallux (HP:0010058)

Abnormal hallux phalanx morphology (HP:0010057)

Enlarged cochlear aqueduct (HP:0011388)

Abnormality of the epiphyses of the hallux (HP:0010056)

Enlarged vestibular aqueduct (HP:0011387)

Inflammatory myopathy (HP:0009071)

Progressive proximal muscle weakness (HP:0009073)

Osteolytic defects of the phalanges of the hallux (HP:0010062)

Aplasia of the vestibular nerve. (HP:0011393)

Decreased Achilles reflex (HP:0009072)

Curved hallux phalanx (HP:0010061)

Abnormality of the vestibular nerve (HP:0011392)

Bullet-shaped hallux phalanx (HP:0010060)

Morphological abnormality of the nerves of the inner ear (HP:0011391)

Morphological abnormality of the inner ear (HP:0011390)

Abnormality of the dorsal column of the spinal cord (HP:0011397)

Weakness of long finger extensor muscles (HP:0009077)

Duplication of phalanx of hallux (HP:0010066)

Triangular shaped phalanges of the hallux (HP:0010065)

Abnormality of the cochlear nerve (HP:0011396)

Aplasia/Hypoplasia of the cochlea (HP:0011395)

Symphalangism affecting the phalanges of the hallux (HP:0010064)

Patchy sclerosis of hallux phalanx (HP:0010063)

Hypoplasia of the vestibular nerve (HP:0011394)

Aplasia of metacarpal bones (HP:0010048)

Dilated vestibule of the inner ear (HP:0011379)

Short 5th metacarpal (HP:0010047)

Hypoplasia of the vestibule of the inner ear (HP:0011378)

Aplasia of the 5th metacarpal (HP:0010046)

Aplasia of the vestibule (HP:0011377)

Aplasia/Hypoplasia of the 5th metacarpal (HP:0010045)

Morphological abnormality of the vestibule of the inner ear (HP:0011376)

Scapular muscle atrophy (HP:0009060)

Short metacarpal (HP:0010049)

Deviation of the hallux (HP:0010051)

Infantile axial hypotonia (HP:0009062)

Hypoplasia of the semicircular canal (HP:0011382)

Aplasia of the semicircular canal (HP:0011381)

Generalized lipodystrophy (HP:0009064)

Morphological abnormality of the semicircular canal (HP:0011380)

Progressive distal muscle weakness (HP:0009063)

Broad hallux (HP:0010055)

Narrow internal auditory canal (HP:0011386)

Abnormality of the first metatarsal bone (HP:0010054)

Absent internal auditory canal (HP:0011385)

Abnormality of the internal auditory canal (HP:0011384)

Abnormality of the distal phalanx of the hallux (HP:0010053)

Progressive spinal muscular atrophy (HP:0009067)

Abnormal morphology of the proximal phalanx of the hallux (HP:0010052)

Enlarged semicircular canal (HP:0011383)

Lethal infantile mitochondrial myopathy (HP:0009069)

Epidermal thickening (HP:0011368)

Aplasia of the 2nd metacarpal (HP:0010037)

Aplasia/Hypoplasia of the 2nd metacarpal (HP:0010036)

Yellow nails (HP:0011367)

Aplasia of the 1st metacarpal (HP:0010035)

Patchy hypopigmentation of hair (HP:0011365)

Short 1st metacarpal (HP:0010034)

Abnormal thalamic MRI signal intensity (HP:0012696)

Small basal ganglia (HP:0012697)

Aplasia/Hypoplasia of the 3rd metacarpal (HP:0010039)

Cerebellar gliosis (HP:0012698)

Short 2nd metacarpal (HP:0010038)

Mongolian blue spot (HP:0011369)

Anomaly of lower limb diaphyses (HP:0012699)

Increased muscle glycogen content (HP:0009051)

Aplasia of the 3rd metacarpal (HP:0010040)

Recurrent viral skin infections (HP:0011371)

Recurrent cutaneous fungal infections (HP:0011370)

Quadriceps muscle atrophy (HP:0009050)

Distal lower limb muscle weakness (HP:0009053)

Generalized limb muscle atrophy (HP:0009055)

Short 4th metacarpal (HP:0010044)

Cochlear aplasia (HP:0011375)

Scapuloperoneal myopathy (HP:0009054)

Aplasia of the 4th metacarpal (HP:0010043)

Incomplete partition of the cochlea type I (HP:0011374)

Incomplete partition of the cochlea (HP:0011373)

Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)

Loss of subcutaneous adipose tissue from upper limbs (HP:0009056)

Short 3rd metacarpal (HP:0010041)

Aplasia of the inner ear (HP:0011372)

Congenital generalized lipodystrophy (HP:0009059)

Increased muscle lipid content (HP:0009058)

Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)

obsolete Abnormality of hair density (HP:0011357)

Abnormal pineal melatonin secretion (HP:0012689)

Regional abnormality of skin (HP:0011356)

Triangular epiphysis of the 1st metacarpal (HP:0010025)

Localized skin lesion (HP:0011355)

Epiphyseal stippling of the first metacarpal (HP:0010024)

Generalized abnormality of skin (HP:0011354)

Small epiphysis of the 1st metacarpal (HP:0010023)

Decreased pineal volume (HP:0012685)

Curved 1st metacarpal (HP:0010029)

Increased pineal volume (HP:0012686)

Bullet-shaped 1st metacarpal (HP:0010028)

Dry hair (HP:0011359)

Agenesis of pineal gland (HP:0012687)

Generalized hypopigmentation of hair (HP:0011358)

Broad 1st metacarpal (HP:0010027)

Abnormality of pineal physiology (HP:0012688)

Acquired abnormal hair pattern (HP:0011360)

Focal T2 hyperintense thalamic lesion (HP:0012692)

Abnormal thalamic size (HP:0012693)

Marked muscular hypertrophy (HP:0009042)

Enlarged thalamic volume (HP:0012694)

Decreased thalamic volume (HP:0012695)

obsolete Hypoplasia of deltoid muscle (HP:0009044)

Triangular shaped 1st metacarpal (HP:0010033)

White hair (HP:0011364)

Abnormality of hair growth rate (HP:0011363)

Abnormal hair quantity (HP:0011362)

Difficulty running (HP:0009046)

Patchy sclerosis of the 1st metacarpal (HP:0010031)

T2 hypointense thalamus (HP:0012690)

Congenital abnormal hair pattern (HP:0011361)

Exercise-induced rhabdomyolysis (HP:0009045)

Osteolytic defects of the 1st metacarpal (HP:0010030)

Focal T2 hypointense thalamic lesion (HP:0012691)

Peroneal muscle atrophy (HP:0009049)

Tooth malposition (HP:0000692)

Microdontia (HP:0000691)

Odontodysplasia (HP:0000694)

Agenesis of maxillary lateral incisor (HP:0000690)

Absent epiphysis of the 1st metacarpal (HP:0010015)

Mild expressive language delay (HP:0011346)

Iron accumulation in substantia nigra (HP:0012678)

Abnormality of the epiphysis of the 1st metacarpal (HP:0010014)

Moderate expressive language delay (HP:0011345)

Widened interpedicular distance (HP:0012679)

Abnormal 5th metacarpal morphology (HP:0010013)

Severe global developmental delay (HP:0011344)

Abnormal 4th metacarpal morphology (HP:0010012)

Moderate global developmental delay (HP:0011343)

Fragmentation of the epiphysis of the 1st metacarpal (HP:0010019)

Aplasia of the lower vagina (HP:0012674)

Enlarged epiphysis of the 1st metacarpal (HP:0010018)

obsolete Abducens palsy (HP:0011349)

Iron accumulation in brain (HP:0012675)

Cone-shaped epiphysis of the 1st metacarpal (HP:0010017)

Abnormal sixth cranial nerve morphology (HP:0011348)

Copper accumulation in brain (HP:0012676)

Abnormality of ocular abduction (HP:0011347)

Bracket epiphysis of the 1st metacarpal (HP:0010016)

Iron accumulation in globus pallidus (HP:0012677)

Abnormal pineal morphology (HP:0012681)

Pineal gland calcification (HP:0012682)

Amyotrophy of ankle musculature (HP:0009031)

Pineal cyst (HP:0012683)

Abnormal pineal volume (HP:0012684)

Pseudoepiphysis of the 1st metacarpal (HP:0010022)

Arterial intimal fibrosis (HP:0011353)

Ivory epiphysis of the 1st metacarpal (HP:0010021)

Severe receptive language delay (HP:0011352)

Irregular epiphysis of the 1st metacarpal (HP:0010020)

Moderate receptive language delay (HP:0011351)

Mild receptive language delay (HP:0011350)

Abnormality of the pineal gland (HP:0012680)

Dental malocclusion (HP:0000689)

Segmental spinal muscular atrophy (HP:0009037)

Hypoplasia of teeth (HP:0000685)

Delayed eruption of teeth (HP:0000684)

Widely spaced teeth (HP:0000687)

Abnormal 1st metacarpal morphology (HP:0010009)

Partial duplication of the distal phalanges of the hand (HP:0010004)

Frontal hirsutism (HP:0011335)

Regional left ventricular wall motion abnormality (HP:0012667)

Facial shape deformation (HP:0011334)

Partial duplication of the proximal phalanges of the hand (HP:0010003)

Vasovagal syncope (HP:0012668)

Complete duplication of the middle phalanges of the hand (HP:0010002)

Asymmetric crying face (HP:0011333)

Carotid sinus syncope (HP:0012669)

Complete duplication of the distal phalanges of the hand (HP:0010001)

Hemifacial hypoplasia (HP:0011332)

Abnormality of upper lip vermillion (HP:0011339)

Duplication of the middle phalanx of hand (HP:0010008)

Mildly reduced ejection fraction (HP:0012663)

Abnormality of mouth shape (HP:0011338)

Reduced ejection fraction (HP:0012664)

Abnormality of mouth size (HP:0011337)

Duplication of the proximal phalanx of hand (HP:0010006)

Moderately reduced ejection fraction (HP:0012665)

Partial duplication of the middle phalanges of the hand (HP:0010005)

Bitemporal forceps marks (HP:0011336)

Severely reduced ejection fraction (HP:0012666)

Orthostatic syncope (HP:0012670)

Abulia (HP:0012671)

Exercise-induced muscle fatigue (HP:0009020)

Akinetic mutism (HP:0012672)

Aplasia of the upper vagina (HP:0012673)

Abnormal 3rd metacarpal morphology (HP:0010011)

Mild global developmental delay (HP:0011342)

Abnormal 2nd metacarpal morphology (HP:0010010)

Long upper lip (HP:0011341)

Incomplete cleft of the upper lip (HP:0011340)

Abdominal wall muscle weakness (HP:0009023)

Hypoplasia of latissimus dorsi muscle (HP:0009026)

Diastema (HP:0000699)

Increased connective tissue (HP:0009025)

Generalized weakness of limb muscles (HP:0009028)

Foot dorsiflexor weakness (HP:0009027)

Delayed eruption of permanent teeth (HP:0000696)

Natal tooth (HP:0000695)

Conical tooth (HP:0000698)

Carious teeth (HP:0000670)

Abnormality of cranial sutures (HP:0011329)

Multiple suture craniosynostosis (HP:0011324)

Reduced CSF dopamine level (HP:0012656)

Cleft of chin (HP:0011323)

Abnormal brain positron emission tomography (HP:0012657)

Right unilambdoid synostosis (HP:0011322)

Abnormal brain FDG positron emission tomography (HP:0012658)

Left unilambdoid synostosis (HP:0011321)

Prefrontal hypometabolism in FDG PET (HP:0012659)

Abnormality of fontanelles (HP:0011328)

Exercise-induced asthma (HP:0012652)

Posterior plagiocephaly (HP:0011327)

Status asthmaticus (HP:0012653)

Anterior plagiocephaly (HP:0011326)

Abnormal CSF dopamine concentration (HP:0012654)

Pansynostosis (HP:0011325)

Elevated CSF dopamine level (HP:0012655)

Thalamic hypometabolism in FDG PET (HP:0012660)

Hypothalamic hypometabolism in FDG PET (HP:0012661)

Parietal hypometabolism in FDG PET (HP:0012662)

Hypoplasia of serratus anterior muscle (HP:0009011)

Complete duplication of the proximal phalanges of the hand (HP:0010000)

Hemifacial atrophy (HP:0011331)

Metopic synostosis (HP:0011330)

Congenital absence of gluteal muscles (HP:0009013)

Phthisis bulbi (HP:0000667)

Neonatal hypoglycemia (HP:0001998)

Horizontal nystagmus (HP:0000666)

Gout (HP:0001997)

Loss of gluteal subcutaneous adipose tissue (HP:0009017)

Abnormal facial shape (HP:0001999)

Hypodontia (HP:0000668)

Upper limb muscle hypoplasia (HP:0009016)

Renal Fanconi syndrome (HP:0001994)

Progressive loss of facial adipose tissue (HP:0009019)

Nyctalopia (HP:0000662)

Ketoacidosis (HP:0001993)

Chronic metabolic acidosis (HP:0001996)

Synophrys (HP:0000664)

Hyperchloremic acidosis (HP:0001995)

Delayed eruption of primary teeth (HP:0000680)

Grayish enamel (HP:0000683)

Bilambdoid synostosis (HP:0011319)

Abnormal dental enamel morphology (HP:0000682)

Bicoronal synostosis (HP:0011318)

Increased inflammatory response (HP:0012649)

Narrow nail (HP:0011313)

Enlarged peripheral nerve (HP:0012645)

Fused nails (HP:0011312)

Retractile testis (HP:0012646)

Sydney crease (HP:0011311)

Abnormal inflammatory response (HP:0012647)

Bridged palmar crease (HP:0011310)

Decreased inflammatory response (HP:0012648)

Right unicoronal synostosis (HP:0011317)

Decreased intracranial pressure (HP:0012641)

Left unicoronal synostosis (HP:0011316)

Cerebellar agenesis (HP:0012642)

Unicoronal synostosis (HP:0011315)

Foveal hypopigmentation (HP:0012643)

Abnormality of long bone morphology (HP:0011314)

Increased caudate lactate level (HP:0012644)

Perisylvian polymicrogyria (HP:0012650)

Abasia (HP:0012651)

Unilambdoid synostosis (HP:0011320)

Loss of truncal subcutaneous adipose tissue (HP:0009002)

Dental crowding (HP:0000678)

Hypoplasia of the musculature (HP:0009004)

Oligodontia (HP:0000677)

Increased subcutaneous truncal adipose tissue (HP:0009003)

Taurodontia (HP:0000679)

Weakness of the intrinsic hand muscles (HP:0009005)

Anodontia (HP:0000674)

Biceps hypoplasia (HP:0009007)

Abnormality of the incisor (HP:0000676)

Macrodontia of permanent maxillary central incisor (HP:0000675)

Patchy sclerosis of middle toe phalanx (HP:0010199)

Osteolytic defects of the distal phalanges of the toes (HP:0010189)

Curved distal toe phalanx (HP:0010188)

Aplasia/Hypoplasia of the middle phalanges of the toes (HP:0010194)

Duplication of distal phalanx of toe (HP:0010193)

Triangular shaped distal phalanges of the toes (HP:0010192)

Symphalangism affecting the distal phalanges of the toes (HP:0010191)

Osteolytic defects of the middle phalanges of the toes (HP:0010198)

Curved middle toe phalanx (HP:0010197)

Bullet-shaped middle toe phalanx (HP:0010196)

Broad middle phalanges of the toes (HP:0010195)

Patchy sclerosis of distal toe phalanx (HP:0010190)

Anti-aminoacyl-tRNA synthetase antibody positivity (HP:0034147)

Anti-glycyl tRNA-synthetase antibody positivity (HP:0034146)

Anti-phenylalanyl tRNA synthetase antibody positivity (HP:0034149)

Anti-isoleucyl tRNA-synthetase antibody positivity (HP:0034148)

Glandular hypospadias (HP:0000807)

Anti-tyrosyl-tRNA synthetase antibody positivity (HP:0034150)

Urinary tract atresia (HP:0000809)

Anti-histidyl tRNA synthetase antibody positivity (HP:0034152)

Penoscrotal hypospadias (HP:0000808)

Anti-asparaginyl-tRNA synthetase antibody positivity (HP:0034151)

Renal cortical cysts (HP:0000803)

Anti-Ki antibody positivity (HP:0034154)

Impotence (HP:0000802)

Anti-cytosolic-5-nucleotidase-1A antibody positivity (HP:0034153)

Enuresis (HP:0000805)

Anti-beta-2-Glycoprotein I IgG antibody positivity (HP:0034156)

Xanthine nephrolithiasis (HP:0000804)

Anti-sp100 antibody positivity (HP:0034155)

Cystic renal dysplasia (HP:0000800)

Anti-tyrosine phosphatase region of islet antigen-2 antibody positivity (HP:0034158)

Anti-beta-2-Glycoprotein I IgM antibody positivity (HP:0034157)

Paget disease of bone (HP:0034159)

Abnormality of the endocrine system (HP:0000818)

Reduced circulating interleukin 9 concentration (HP:0034161)

Poor eye contact (HP:0000817)

Abnormal circulating interleukin 9 concentration (HP:0034160)

Reduced circulating interleukin 10 concentration (HP:0034163)

Diabetes mellitus (HP:0000819)

Abnormal circulating interleukin 10 concentration (HP:0034162)

Reduced circulating interleukin 21 concentration (HP:0034165)

Bicornuate uterus (HP:0000813)

Abnormal circulating interleukin 21 concentration (HP:0034164)

Abnormality of Krebs cycle metabolism (HP:0000816)

Abnormal circulating interleukin 22 concentration (HP:0034167)

Hypergonadotropic hypogonadism (HP:0000815)

Increased circulating interleukin 21 concentration (HP:0034166)

Abnormal internal genitalia (HP:0000812)

Abnormal external genitalia (HP:0000811)

Increased circulating interleukin 22 concentration (HP:0034169)

Reduced circulating interleukin 22 concentration (HP:0034168)

Increased circulating interleukin 23 concentration (HP:0034172)

Reduced circulating interleukin 23 concentration (HP:0034171)

Reduced circulating interleukin 27 concentration (HP:0034174)

Abnormal circulating interleukin 27 concentration (HP:0034173)

Abnormal circulating interleukin 17A concentration (HP:0034176)

Increased circulating interleukin 27 concentration (HP:0034175)

Increased circulating interleukin 17A concentration (HP:0034178)

Reduced circulating interleukin 17A concentration (HP:0034177)

Abnormal circulating interleukin 23 concentration (HP:0034170)

Vertebral artery aneurysm (HP:0034179)

Spastic triplegia (HP:0034183)

Segmental hypoplasia of liver (HP:0034182)

Median pseudocleft lip (HP:0034185)

Increased insulin like growth factor binding protein acid labile subunit concentration (HP:0034184)

Clavicular pseudarthrosis (HP:0034187)

Patella alta (HP:0034186)

Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189)

Midline liver (HP:0034188)

Aplasia/Hypoplasia of the liver (HP:0034181)

Fusion of the caudate and putamen (HP:0034180)

Suprabasal cleavage (HP:0034194)

Stratum basale cleavage (HP:0034193)

Ductus venosus agenesis (HP:0034196)

Triggered by muscle relaxant (HP:0034195)

Second trimester onset (HP:0034198)

Third trimester onset (HP:0034197)

Late first trimester onset (HP:0034199)

Abnormal fetal cardiovascular physiology (HP:0034190)

Pulmonary thromboembolism (HP:0034192)

Elevated fetal middle cerebral artery peak systolic velocity (HP:0034191)

Gynecomastia (HP:0000771)

Short fetal humerus length (HP:0011429)

Short fetal femur length (HP:0011428)

Neurodevelopmental abnormality (HP:0012759)

Hyperchloremia (HP:0011423)

Enlarged brainstem (HP:0012755)

Abnormal blood chloride concentration (HP:0011422)

CSF polymorphonuclear pleocytosis (HP:0012756)

Abnormal neuron morphology (HP:0012757)

Death in adolescence (HP:0011421)

Neurodevelopmental delay (HP:0012758)

Age of death (HP:0011420)

Abnormal basal ganglia MRI signal intensity (HP:0012751)

Enlarged fetal cisterna magna (HP:0011427)

Fetal choroid plexus cysts (HP:0011426)

Focal T2 hypointense basal ganglia lesion (HP:0012752)

Fetal ultrasound soft marker (HP:0011425)

T2 hypointense basal ganglia (HP:0012753)

Increased serum zinc (HP:0011424)

CNS hypermyelination (HP:0012754)

Impaired social reciprocity (HP:0012760)

Absent mastoid (HP:0012761)

Diaphragmatic eventration (HP:0009110)

Hypoplasia of fetal nasal bone (HP:0011430)

Abnormality of the breast (HP:0000769)

Aplasia of the left hemidiaphragm (HP:0009112)

Abnormal sternum morphology (HP:0000766)

Abnormal thorax morphology (HP:0000765)

Diaphragmatic weakness (HP:0009113)

Pectus carinatum (HP:0000768)

Aplasia/Hypoplasia involving bones of the skull (HP:0009116)

Pectus excavatum (HP:0000767)

Aplasia/hypoplasia involving the skeleton (HP:0009115)

Aplasia/Hypoplasia of the mandible (HP:0009118)

Decreased nerve conduction velocity (HP:0000762)

Aplasia/Hypoplasia of the maxilla (HP:0009117)

Peripheral axonal degeneration (HP:0000764)

Sensory neuropathy (HP:0000763)

Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)

Placental abruption (HP:0011419)

Abnormal scapula morphology (HP:0000782)

Abnormal insertion of umbilical cord (HP:0011418)

Long umbilical cord (HP:0011417)

Focal T2 hyperintense brainstem lesion (HP:0012748)

Focal T2 hypointense brainstem lesion (HP:0012749)

Ventouse delivery (HP:0011412)

Femoral aplasia (HP:0012744)

Forceps delivery (HP:0011411)

Short palpebral fissure (HP:0012745)

Caesarian section (HP:0011410)

Thin toenail (HP:0012746)

Abnormal brainstem MRI signal intensity (HP:0012747)

Placental infarction (HP:0011416)

Papilloma (HP:0012740)

Calcified placenta (HP:0011415)

Unilateral cryptorchidism (HP:0012741)

Hydropic placenta (HP:0011414)

Thin fingernail (HP:0012742)

Shoulder dystocia (HP:0011413)

Abdominal obesity (HP:0012743)

T2 hypointense brainstem (HP:0012750)

Submucous cleft lip (HP:0009101)

Thick anterior alveolar ridges (HP:0009100)

Abnormality of the thymus (HP:0000777)

Aplasia/Hypoplasia involving the pelvis (HP:0009103)

Congenital diaphragmatic hernia (HP:0000776)

Anterior open-bite malocclusion (HP:0009102)

Abnormal ossification of the pubic bone (HP:0009105)

Hypoplasia of the thymus (HP:0000778)

Aplasia/Hypoplasia of the pubic bone (HP:0009104)

Short ribs (HP:0000773)

Abnormal ossification involving the femoral head and neck (HP:0009107)

Abnormal rib morphology (HP:0000772)

Abnormal pelvis bone ossification (HP:0009106)

Abnormality of the diaphragm (HP:0000775)

Denervation of the diaphragm (HP:0009109)

Narrow chest (HP:0000774)

Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)

Abnormal placental membrane morphology (HP:0011409)

Moderate intrauterine growth retardation (HP:0011408)

Proportionate tall stature (HP:0011407)

Infancy onset short-trunk short stature (HP:0011406)

Small intestinal polyp (HP:0012737)

Agenesis of canine (HP:0012738)

Agenesis of the small intestine (HP:0012739)

Macule (HP:0012733)

Delayed peripheral myelination (HP:0011401)

Abnormal CNS myelination (HP:0011400)

Ketotic hypoglycemia (HP:0012734)

Cough (HP:0012735)

Profound global developmental delay (HP:0012736)

Childhood onset short-limb short stature (HP:0011405)

Lethal short-trunk short stature (HP:0011404)

Aglossia (HP:0012730)

Abnormal umbilical cord blood vessel morphology (HP:0011403)

Ectopic anterior pituitary gland (HP:0012731)

Anorectal anomaly (HP:0012732)

Demyelinating sensory neuropathy (HP:0011402)

Inappropriate laughter (HP:0000748)

Paroxysmal bursts of laughter (HP:0000749)

Low frustration tolerance (HP:0000744)

Frontal release signs (HP:0000743)

Delusions (HP:0000746)

Diminished motivation (HP:0000745)

Episodic paroxysmal anxiety (HP:0000740)

Self-mutilation (HP:0000742)

Apathy (HP:0000741)

Episodic hypokalemia (HP:0012726)

Thoracic aortic aneurysm (HP:0012727)

Fusiform descending thoracic aortic aneurysm (HP:0012728)

Saccular descending thoracic aortic aneurysm (HP:0012729)

Heart block (HP:0012722)

Sinoatrial block (HP:0012723)

Upper eyelid edema (HP:0012724)

Cutaneous syndactyly (HP:0012725)

Neoplasm of the nose (HP:0012720)

Venous malformation (HP:0012721)

Abnormal peripheral nervous system morphology (HP:0000759)

Abnormal nonverbal communicative behavior (HP:0000758)

Anti-annexin-V antibody positivity (HP:0034101)

Anti-phosphatidyl serine antibody positivity (HP:0034100)

Lack of insight (HP:0000757)

Agoraphobia (HP:0000756)

Personality changes (HP:0000751)

Delayed speech and language development (HP:0000750)

Autism with high cognitive abilities (HP:0000753)

Hyperactivity (HP:0000752)

Functional abnormality of the gastrointestinal tract (HP:0012719)

Profound hearing impairment (HP:0012715)

Moderate conductive hearing impairment (HP:0012716)

Severe conductive hearing impairment (HP:0012717)

Morphological abnormality of the gastrointestinal tract (HP:0012718)

Delayed ossification of vertebral epiphysis (HP:0012711)

Anti-GM1 antibody positivity (HP:0034103)

Mild hearing impairment (HP:0012712)

Anti-sphingolipid antibody positivity (HP:0034102)

Moderate hearing impairment (HP:0012713)

Anti-transcription intermediary factor-1gamma antibody positivity (HP:0034105)

Severe hearing impairment (HP:0012714)

Anti-neutrophil elastase antibody positivity (HP:0034104)

Anti-p53 antibody positivity (HP:0034107)

Anti-Su antigen/argonaute 2 antibody positivity (HP:0034106)

Anti-GW182 antibody positivity (HP:0034109)

Ingrown nail (HP:0012710)

Anti-Y-box protein-1 antibody positivity (HP:0034108)

Autistic behavior (HP:0000729)

Dementia (HP:0000726)

Anti-Gerbich phenotype 1 antibody positivity (HP:0034110)

Psychotic episodes (HP:0000725)

Impaired ability to form peer relationships (HP:0000728)

Anti-GM1 IgG antibody positivity (HP:0034112)

Frontal lobe dementia (HP:0000727)

Anti-MIT3 antibody positivity (HP:0034111)

Obsessive-compulsive behavior (HP:0000722)

Lack of spontaneous play (HP:0000721)

Restrictive behavior (HP:0000723)

Mood swings (HP:0000720)

Reduced brain N-acetyl aspartate level by MRS (HP:0012708)

Abnormal brain choline/creatine ratio by MRS (HP:0012709)

Widened subarachnoid space (HP:0012704)

Abnormal metabolic brain imaging by MRS (HP:0012705)

Elevated brain choline level by MRS (HP:0012706)

Elevated brain lactate level by MRS (HP:0012707)

Abnormal large intestine physiology (HP:0012700)

Anti-hexokinase-1 antibody positivity (HP:0034114)

Bowel urgency (HP:0012701)

Anti-type I liver-kidney microsomal antibody positivity (HP:0034113)

Tenesmus (HP:0012702)

Anti-thyrotropin receptor antibody (HP:0034116)

Abnormal subarachnoid space morphology (HP:0012703)

Anti-Kelch like protein 12 antibody positivity (HP:0034115)

Anti-GM1 IgM antibody positivity (HP:0034118)

Anti-angiotensin-converting enzyme 2 antibody positivity (HP:0034117)

Anti-GD1a IgG antibody positivity (HP:0034119)

Irritability (HP:0000737)

Anti-GD1a antibody positivity (HP:0034121)

Short attention span (HP:0000736)

Anti-GD1a IgM antibody positivity (HP:0034120)

Anxiety (HP:0000739)

Anti-GQ1b IgM antibody positivity (HP:0034123)

Hallucinations (HP:0000738)

Anti-GQ1b antibody positivity (HP:0034122)

Motor stereotypy (HP:0000733)

Inflexible adherence to routines or rituals (HP:0000732)

Impaired social interactions (HP:0000735)

Disinhibition (HP:0000734)

Anti-GD1b IgM antibody positivity (HP:0034125)

Anti-GD1b antibody positivity (HP:0034124)

Anti-GQ1b IgG antibody positivity (HP:0034127)

Anti-GD1b IgG antibody positivity (HP:0034126)

Anti-GT1a IgM antibody positivity (HP:0034129)

Anti-GT1a antibody positivity (HP:0034128)

Behavioral abnormality (HP:0000708)

Abnormality of the nervous system (HP:0000707)

Anti-GT1a IgG antibody positivity (HP:0034130)

Psychosis (HP:0000709)

Periodontitis (HP:0000704)

Anti-GM2 antibody positivity (HP:0034132)

Dentinogenesis imperfecta (HP:0000703)

Anti-GT1b antibody positivity (HP:0034131)

Eruption failure (HP:0000706)

Anti-GM4 antibody positivity (HP:0034134)

Amelogenesis imperfecta (HP:0000705)

Anti-GM3 antibody positivity (HP:0034133)

Periapical bone loss (HP:0000700)

Anti-neurofascin 186 antibody positivity (HP:0034136)

Anti-neurofascin-155 antibody positivity (HP:0034135)

Anti-contactin-associated protein 1 antibody positivity (HP:0034138)

Anti-contactin-1 antibody positivity (HP:0034137)

Anti-SUMO-activating enzyme antibody positivity (HP:0034139)

Inappropriate behavior (HP:0000719)

Aggressive behavior (HP:0000718)

Anti-SUMO-activating enzyme subunit 2 antibody positivity (HP:0034141)

Anti-SUMO-activating enzyme subunit 1 antibody positivity (HP:0034140)

Anti-threonyl-tRNA synthetase antibody positivity (HP:0034143)

Anti-nuclear matrix protein-2 antibody positivity (HP:0034142)

Autism (HP:0000717)

Anti-alanyl-tRNA synthetase antibody positivity (HP:0034145)

Depression (HP:0000716)

Anti-hY-RNA complex antibody positivity (HP:0034144)

Restlessness (HP:0000711)

Hyperorality (HP:0000710)

Agitation (HP:0000713)

Emotional lability (HP:0000712)

Symphalangism affecting the phalanges of the toes (HP:0010179)

Patchy sclerosis of toe phalanx (HP:0010178)

Osteolytic defects of the phalanges of the toes (HP:0010177)

Irregular epiphyses of the metacarpals (HP:0009190)

Aplasia/Hypoplasia of the proximal phalanx of the 5th finger (HP:0009192)

Ivory epiphyses of the metacarpals (HP:0009191)

Abnormality of the middle phalanges of the toes (HP:0010183)

Small epiphyses of the metacarpals (HP:0009194)

Pseudoepiphyses of the metacarpals (HP:0009193)

Abnormality of the distal phalanges of the toes (HP:0010182)

Absent metacarpal epiphyses (HP:0009196)

Duplication of phalanx of toe (HP:0010181)

Epiphyseal stippling of the metacarpals (HP:0009195)

Triangular shaped phalanges of the toes (HP:0010180)

Abnormality of the epiphysis of the distal phalanx of the 5th finger (HP:0009198)

Bullet-shaped distal toe phalanx (HP:0010187)

Bracket epiphysis of the proximal phalanx of the 5th finger (HP:0009197)

Broad distal phalanx of the toes (HP:0010186)

Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)

Irregular epiphysis of the proximal phalanx of the 5th finger (HP:0009199)

Abnormality of toe proximal phalanx (HP:0010184)

Pseudoepiphyses of the toes (HP:0010169)

Mydriasis (HP:0011499)

Ivory epiphyses of the toes (HP:0010168)

Irregular epiphyses of the toes (HP:0010167)

obsolete Partial aniridia (HP:0011498)

Fragmentation of the epiphyses of the toes (HP:0010166)

Iris neovascularization (HP:0011497)

Ulnar deviation of the 5th finger (HP:0009180)

Joint contracture of the 5th finger (HP:0009183)

Triangular epiphyses of the toes (HP:0010172)

Triangular shaped middle phalanx of the 5th finger (HP:0009182)

Epiphyseal stippling of toe phalanges (HP:0010171)

Contracture of the proximal interphalangeal joint of the 5th finger (HP:0009185)

Small epiphyses of the toes (HP:0010170)

Contracture of the distal interphalangeal joint of the 5th finger (HP:0009184)

Bracket epiphysis of the distal phalanx of the 5th finger (HP:0009187)

Curved toe phalanx (HP:0010176)

Contracture of the metacarpophalangeal joint of the 5th finger (HP:0009186)

Bullet-shaped toe phalanx (HP:0010175)

Fragmentation of the metacarpal epiphyses (HP:0009189)

Broad phalanx of the toes (HP:0010174)

Pseudoepiphysis of the distal phalanx of the 5th finger (HP:0009188)

Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)

Abnormal migration of corneal endothelium (HP:0011489)

Stippling of the epiphysis of the 1st metatarsal (HP:0010158)

Small epiphysis of the 1st metatarsal (HP:0010157)

Abnormal corneal endothelium morphology (HP:0011488)

Pseudoepiphysis of the 1st metatarsal (HP:0010156)

Increased corneal thickness (HP:0011487)

Ivory epiphysis of the 1st metatarsal (HP:0010155)

Abnormality of corneal thickness (HP:0011486)

Osteolytic defects of the middle phalanx of the 5th finger (HP:0009170)

Triangular epiphysis of the 1st metatarsal (HP:0010159)

Abnormal 4th finger phalanx morphology (HP:0009172)

Abnormality of the phalanges of the toes (HP:0010161)

Abnormality of corneal stroma (HP:0011492)

Reduced number of corneal endothelial cells (HP:0011491)

Triangular epiphyses of the metacarpals (HP:0009171)

Abnormality of the epiphyses of the toes (HP:0010160)

Abnormality of the epiphyses of the 4th finger (HP:0009174)

Abnormal Descemet membrane morphology (HP:0011490)

Curved middle phalanx of the 5th finger (HP:0009173)

Enlarged epiphyses of the toes (HP:0010165)

Corneal neovascularization (HP:0011496)

Abnormal corneal epithelium morphology (HP:0011495)

Patchy sclerosis of the middle phalanx of the 5th finger (HP:0009175)

Cone-shaped epiphyses of the toes (HP:0010164)

Generalized opacification of the cornea (HP:0011494)

Symphalangism of middle phalanx of 5th finger (HP:0009178)

Bracket epiphyses of the toes (HP:0010163)

Central opacification of the cornea (HP:0011493)

Proximal/middle symphalangism of 5th finger (HP:0009177)

Absent epiphyses of the toes (HP:0010162)

Deviation of the 5th finger (HP:0009179)

Stippling of the epiphysis of the distal phalanx of the hallux (HP:0010147)

True anophthalmia (HP:0011478)

Small epiphysis of the distal phalanx of the hallux (HP:0010146)

Upbeat nystagmus (HP:0011477)

Pseudoepiphysis of the distal phalanx of the hallux (HP:0010145)

Profound sensorineural hearing impairment (HP:0011476)

Ivory epiphysis of the distal phalanx of the hallux (HP:0010144)

Persistent stapedial artery (HP:0011475)

Absent epiphysis of the 1st metatarsal (HP:0010149)

Abnormal lacrimal punctum morphology (HP:0011479)

Triangular epiphysis of the distal phalanx of the hallux (HP:0010148)

Abnormal lacrimal duct morphology (HP:0011481)

Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)

Bracket epiphysis of the 1st metatarsal (HP:0010150)

Absent epiphysis of the proximal phalanx of the 5th finger (HP:0009160)

Unilateral microphthalmos (HP:0011480)

obsolete Abnormal form of the 5th finger (HP:0009163)

Absent middle phalanx of 5th finger (HP:0009162)

Stippling of the epiphysis of the distal phalanx of the 5th finger (HP:0009165)

Irregular epiphysis of the 1st metatarsal (HP:0010154)

Corneolenticular adhesion (HP:0011485)

Abnormal calcification of the carpal bones (HP:0009164)

Fragmentation of the epiphysis of the 1st metatarsal (HP:0010153)

Posterior synechiae of the anterior chamber (HP:0011484)

Irregular epiphysis of the distal phalanx of the 5th finger (HP:0009167)

Enlarged epiphysis of the 1st metatarsal (HP:0010152)

Anterior synechiae of the anterior chamber (HP:0011483)

Abnormal lacrimal gland morphology (HP:0011482)

Fragmentation of the epiphysis of the distal phalanx of the 5th finger (HP:0009166)

Cone-shaped epiphysis of the 1st metatarsal (HP:0010151)

Broad middle phalanx of the 5th finger (HP:0009169)

Bullet-shaped middle phalanx of the 5th finger (HP:0009168)

Stippling of the epiphysis of the proximal phalanx of the hallux (HP:0010136)

Absent gallbladder (HP:0011467)

Unilateral facial palsy (HP:0012799)

Aplasia/Hypoplasia of the gallbladder (HP:0011466)

Small epiphysis of the proximal phalanx of the hallux (HP:0010135)

Pseudoepiphysis of the proximal phalanx of the hallux (HP:0010134)

Duodenal aganglionosis (HP:0011465)

Ivory epiphysis of the proximal phalanx of the hallux (HP:0010133)

Aganglionosis of the small intestine (HP:0011464)

Abnormality of the optic disc (HP:0012795)

Bracket epiphysis of the distal phalanx of the hallux (HP:0010139)

Increased cup-to-disc ratio (HP:0012796)

Absent epiphysis of the distal phalanx of the hallux (HP:0010138)

Nasal regurgitation (HP:0011469)

Lymphatic vessel neoplasm (HP:0012797)

Triangular epiphysis of the proximal phalanx of the hallux (HP:0010137)

Facial tics (HP:0011468)

Pulmonary lymphangiomyomatosis (HP:0012798)

Abnormality of the proximal phalanx of the 5th finger (HP:0009150)

Nasogastric tube feeding in infancy (HP:0011470)

Abnormality of the epiphyses of the 5th finger (HP:0009152)

Childhood onset sensorineural hearing impairment (HP:0011474)

Triangular epiphysis of the proximal phalanx of the 5th finger (HP:0009154)

Irregular epiphysis of the distal phalanx of the hallux (HP:0010143)

Abnormality of the epiphysis of the proximal phalanx of the 5th finger (HP:0009153)

Fragmentation of the epiphysis of the distal phalanx of the hallux (HP:0010142)

Villous atrophy (HP:0011473)

Enlarged epiphysis of the distal phalanx of the hallux (HP:0010141)

Abnormality of small intestinal villus morphology (HP:0011472)

Cone-shaped epiphysis of the proximal phalanx of the 5th finger (HP:0009155)

Cone-shaped epiphysis of the distal phalanx of the hallux (HP:0010140)

Gastrostomy tube feeding in infancy (HP:0011471)

Enlarged epiphysis of the proximal phalanx of the 5th finger (HP:0009158)

Ivory epiphysis of the proximal phalanx of the 5th finger (HP:0009157)

Small epiphysis of the proximal phalanx of the 5th finger (HP:0009159)

Abnormality of the epiphysis of the 1st metatarsal (HP:0010125)

Absent stapes (HP:0011456)

Reticulate pigmentation of oral mucosa (HP:0012788)

Abnormality of the epiphysis of the distal phalanx of the hallux (HP:0010124)

Absent malleus (HP:0011455)

Hypoplasia of the calcaneus (HP:0012789)

Triangular epiphyses of the hallux (HP:0010123)

Abnormality of the malleus (HP:0011454)

Stippling of the epiphyses of the hallux (HP:0010122)

Abnormality of the incus (HP:0011453)

Cone-shaped epiphysis of the proximal phalanx of the hallux (HP:0010129)

Perinephritis (HP:0012784)

Flexion contracture of finger (HP:0012785)

Bracket epiphysis of the proximal phalanx of the hallux (HP:0010128)

Esophageal carcinoma (HP:0011459)

Abdominal symptom (HP:0011458)

Absent epiphysis of the proximal phalanx of the hallux (HP:0010127)

Recurrent cystitis (HP:0012786)

Abnormality of the epiphysis of the proximal phalanx of the hallux (HP:0010126)

Loss of eyelashes (HP:0011457)

Recurrent pyelonephritis (HP:0012787)

Abnormal humeral ossification (HP:0012791)

Absent ossification of thoracic vertebral bodies (HP:0012792)

Depletion of mitochondrial DNA in muscle tissue (HP:0009141)

Kinked brainstem (HP:0012793)

Synostosis involving bones of the feet (HP:0009140)

Periventricular white matter hypodensities (HP:0012794)

Irregular epiphysis of the proximal phalanx of the hallux (HP:0010132)

Childhood onset (HP:0011463)

Duplication of bones involving the upper extremities (HP:0009142)

Fragmentation of the epiphysis of the proximal phalanx of the hallux (HP:0010131)

Young adult onset (HP:0011462)

Abnormal cerebral artery morphology (HP:0009145)

Enlarged epiphysis of the proximal phalanx of the hallux (HP:0010130)

Fetal onset (HP:0011461)

Supernumerary bones of the axial skeleton (HP:0009144)

Embryonal onset (HP:0011460)

Abnormal intramembranous ossification (HP:0012790)

Enlarged epiphysis of the distal phalanx of the 5th finger (HP:0009147)

Triangular epiphysis of the distal phalanx of the 5th finger (HP:0009149)

Small epiphysis of the distal phalanx of the 5th finger (HP:0009148)

Uric acid nephrolithiasis (HP:0000791)

Hematuria (HP:0000790)

Membranoproliferative glomerulonephritis (HP:0000793)

Ivory epiphyses of the hallux (HP:0010119)

Retinal neoplasm (HP:0012777)

Bracket epiphyses of the hallux (HP:0010114)

Athetoid cerebral palsy (HP:0011445)

Absent hallux epiphysis (HP:0010113)

Decorticate rigidity (HP:0011444)

Retinal astrocytic hamartoma (HP:0012778)

Abnormality of coordination (HP:0011443)

Mesoaxial foot polydactyly (HP:0010112)

Transient hearing impairment (HP:0012779)

Abnormal central motor function (HP:0011442)

Short phalanx of hallux (HP:0010111)

Irregular epiphyses of the hallux (HP:0010118)

Knee clonus (HP:0011449)

Reduced upper to lower segment ratio (HP:0012773)

Fragmentation of the epiphyses of the hallux (HP:0010117)

Ankle clonus (HP:0011448)

Increased upper to lower segment ratio (HP:0012774)

Enlarged epiphyses of the hallux (HP:0010116)

Hyposegmentation of neutrophil nuclei (HP:0011447)

Stellate iris (HP:0012775)

Abnormality of higher mental function (HP:0011446)

Abnormal ciliary body morphology (HP:0012776)

Cone-shaped epiphyses of the hallux (HP:0010115)

Neoplasm of the ear (HP:0012780)

Mid-frequency hearing loss (HP:0012781)

Hand muscle atrophy (HP:0009130)

Perilobar nephrogenic rest (HP:0012782)

Intralobar nephrogenic rest (HP:0012783)

Functional abnormality of the middle ear (HP:0011452)

Abnormal tarsal bone mineral density (HP:0009132)

Small epiphyses of the hallux (HP:0010121)

Abnormality of the musculature of the thorax (HP:0009131)

Pseudoepiphyses of the hallux (HP:0010120)

Primary microcephaly (HP:0011451)

Unusual CNS infection (HP:0011450)

Osteolysis involving bones of the feet (HP:0009134)

Duplication involving bones of the feet (HP:0009136)

Nephrolithiasis (HP:0000787)

Synostosis involving bones of the lower limbs (HP:0009138)

Infertility (HP:0000789)

Osteolysis involving bones of the lower limbs (HP:0009139)

Primary amenorrhea (HP:0000786)

Short hallux (HP:0010109)

Anesthetic-induced rhabdomylosis (HP:0011439)

Short distal phalanx of hallux (HP:0010103)

Low maternal serum chorionic gonadotropin (HP:0011434)

Widened cerebral subarachnoid space (HP:0012766)

Abnormal placental size (HP:0012767)

Aplasia of the distal phalanx of the hallux (HP:0010102)

High maternal serum chorionic gonadotropin (HP:0011433)

Partial duplication of the phalanges of the hallux (HP:0010101)

High maternal serum alpha-fetoprotein (HP:0011432)

Neonatal asphyxia (HP:0012768)

Complete duplication of hallux phalanx (HP:0010100)

Fetal fifth finger clinodactyly (HP:0011431)

Abnormal arm span (HP:0012769)

Cerebral white matter atrophy (HP:0012762)

Short proximal phalanx of hallux (HP:0010107)

Maternal teratogenic exposure (HP:0011438)

Aplasia of the proximal phalanx of the hallux (HP:0010106)

Maternal autoimmune disease (HP:0011437)

Paroxysmal dyspnea (HP:0012763)

Abnormal maternal serum screening (HP:0011436)

Short first metatarsal (HP:0010105)

Orthopnea (HP:0012764)

Absent first metatarsal (HP:0010104)

Low maternal serum PAPP-A (HP:0011435)

Widened cerebellar subarachnoid space (HP:0012765)

Reduced arm span (HP:0012770)

Increased arm span (HP:0012771)

Abnormal upper to lower segment ratio (HP:0012772)

Abnormal axial skeleton morphology (HP:0009121)

Abnormality of the medulla oblongata (HP:0011441)

Aplasia of the phalanges of the hallux (HP:0010110)

Aplasia/Hypoplasia involving the sinuses (HP:0009120)

Alcohol-induced rhabdomyolysis (HP:0011440)

Mixed hypo- and hyperpigmentation of the skin (HP:0009123)

Aplasia/hypoplasia affecting bones of the axial skeleton (HP:0009122)

Renal steatosis (HP:0000799)

Lipodystrophy (HP:0009125)

Abnormal adipose tissue morphology (HP:0009124)

Oligospermia (HP:0000798)

Abnormality of the musculature of the limbs (HP:0009127)

Increased adipose tissue (HP:0009126)

Abnormality of the urethra (HP:0000795)

Upper limb amyotrophy (HP:0009129)

IgA deposition in the glomerulus (HP:0000794)

Aplasia/Hypoplasia involving the musculature of the extremities (HP:0009128)

Urethral obstruction (HP:0000796)

Abnormal vaginal physiology (HP:0034268)

Pelvic pain (HP:0034267)

Abnormal vaginal discharge (HP:0034269)

Copper beaten skull (HP:0034271)

Abnormality of skeletal maturation (HP:0000927)

Serrated incisors (HP:0034270)

Premature sagging cheeks (HP:0034273)

Abnormal skull morphology (HP:0000929)

Perifoveal hypoautofluorescence (HP:0034272)

Abnormality of the skeletal system (HP:0000924)

Verrucous epidermal nevus (HP:0034275)

Beaded ribs (HP:0000923)

Gastrointestinal ulcer (HP:0034274)

Platyspondyly (HP:0000926)

Elevated circulating deoxyuridine concentration (HP:0034277)

Abnormality of the vertebral column (HP:0000925)

Elevated circulating thymidine concentration (HP:0034276)

Enlargement of the costochondral junction (HP:0000920)

Posterior rib cupping (HP:0000922)

Missing ribs (HP:0000921)

Myotonia of the lower limb (HP:0012902)

Myotonia of the upper limb (HP:0012903)

Cold-sensitive myotonia (HP:0012904)

Euryblepharon (HP:0012905)

2,8-dihydroxyadenine crystalluria (HP:0034279)

Multinucleated erythroblast (HP:0034278)

Myotonia of the face (HP:0012900)

Myotonia of the jaw (HP:0012901)

Osteoporosis (HP:0000939)

Subcutaneous ossification (HP:0034282)

Osteopenia (HP:0000938)

Phalangeal cone-shaped epiphyses (HP:0034281)

Recurrent gingivitis (HP:0034284)

Increased fecal protoporphyrin concentration (HP:0034283)

Thickened cortex of long bones (HP:0000935)

Pneumocystis carinii pneumonia (HP:0034286)

Chondrocalcinosis (HP:0000934)

Enteroviral encephalitis (HP:0034285)

Afibrinogenemia (HP:0034287)

Thinning and bulging of the posterior fossa bones (HP:0000931)

Elevated imprint of the transverse sinuses (HP:0000930)

Posterior fossa cyst at the fourth ventricle (HP:0000933)

Abnormal posterior cranial fossa morphology (HP:0000932)

Target cells (HP:0034280)

Progressive clavicular acroosteolysis (HP:0000905)

Anterior rib cupping (HP:0000907)

Rib fusion (HP:0000902)

Flaring of rib cage (HP:0000904)

Thickened ribs (HP:0000900)

Superior pectus carinatum (HP:0000917)

Broad clavicles (HP:0000916)

Abnormality of the costochondral junction (HP:0000919)

Scapular exostoses (HP:0000918)

Posterior rib fusion (HP:0000913)

Sprengel anomaly (HP:0000912)

Pectus excavatum of inferior sternum (HP:0000915)

Shield chest (HP:0000914)

Flat glenoid fossa (HP:0000911)

Wide-cupped costochondral junctions (HP:0000910)

Long clavicles (HP:0000890)

Bifid ribs (HP:0000892)

Structural foot deformity (HP:0010219)

Cervical ribs (HP:0000891)

Univentricular heart with absent left sided atrioventricular connection (HP:0011549)

Contracture of the tarsometatarsal joint of the hallux (HP:0010213)

L-looping of the right ventricle (HP:0011544)

Premature ejaculation (HP:0012876)

Flexion contracture of the hallux (HP:0010212)

Superior-inferior ventricles without criss-cross atrioventricular valves (HP:0011543)

Retrograde ejaculation (HP:0012877)

Duplication of proximal phalanx of toe (HP:0010211)

Criss-cross atrioventricular valves with superior-inferior ventricles (HP:0011542)

Retarded ejaculation (HP:0012878)

Triangular shaped proximal phalanges of the toes (HP:0010210)

Criss-cross atrioventricular valves (HP:0011541)

Anejaculation (HP:0012879)

Absent right sided atrioventricular connection (HP:0011548)

Abnormal vas deferens morphology (HP:0012872)

Absent left sided atrioventricular connection (HP:0011547)

Absent vas deferens (HP:0012873)

Abnormal male reproductive system physiology (HP:0012874)

Contractures of the metatarsophalangeal joint of the hallux (HP:0010215)

Abnormal atrioventricular connection (HP:0011546)

Contracture of the interphalangeal joint of the hallux (HP:0010214)

Abnormal connection of the cardiac segments (HP:0011545)

Abnormal ejaculation (HP:0012875)

Abnormal labia minora morphology (HP:0012880)

Abnormal labia majora morphology (HP:0012881)

Hyperplastic labia majora (HP:0012882)

Abnormality of the epiphysis of the 2nd metacarpal (HP:0010220)

Patchy sclerosis of the proximal phalanx of the 5th finger (HP:0009231)

Right sided atrium to left ventricle and absent left sided atrioventricular connection (HP:0011551)

Osteolytic defects of the proximal phalanx of the 5th finger (HP:0009230)

Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection (HP:0011550)

Triangular shaped proximal phalanx of the 5th finger (HP:0009233)

Symphalangism affecting the proximal phalanx of the 5th finger (HP:0009232)

Cupped ribs (HP:0000887)

Deformed rib cage (HP:0000886)

Symphalangism of the proximal phalanx of the 5th finger with the 5th metacarpal (HP:0009234)

Abnormal clavicle morphology (HP:0000889)

Short 5th finger (HP:0009237)

Horizontal ribs (HP:0000888)

Rhomboid or triangular shaped 5th finger proximal phalanx (HP:0009236)

Thin ribs (HP:0000883)

Aplasia/Hypoplasia of the distal phalanx of the 5th finger (HP:0009239)

Hypoplastic scapulae (HP:0000882)

Aplasia of the 5th finger (HP:0009238)

Broad ribs (HP:0000885)

Prominent sternum (HP:0000884)

Symphalangism affecting the proximal phalanges of the toes (HP:0010209)

Patchy sclerosis of proximal toe phalanx (HP:0010208)

Atrial situs ambiguous (HP:0011539)

Osteolytic defect of the proximal toe phalanx (HP:0010207)

Atrial situs inversus (HP:0011538)

Acephalic spermatozoa (HP:0012869)

Duplication of middle phalanx of toe (HP:0010202)

Snowflake vitreoretinal degeneration (HP:0011533)

Abnormal sperm head morphology (HP:0012865)

Triangular shaped middle phalanges of the toes (HP:0010201)

Subretinal exudate (HP:0011532)

Abnormal sperm neck morphology (HP:0012866)

Symphalangism affecting the middle phalanges of the toes (HP:0010200)

Vitritis (HP:0011531)

Abnormal sperm mid-piece morphology (HP:0012867)

Retinal hole (HP:0011530)

Abnormal sperm tail morphology (HP:0012868)

Curved proximal toe phalanx (HP:0010206)

Left atrial isomerism (HP:0011537)

Ovotestis (HP:0012861)

Bullet-shaped proximal toe phalanx (HP:0010205)

Right atrial isomerism (HP:0011536)

Abnormal germ cell morphology (HP:0012862)

Broad proximal phalanx of toe (HP:0010204)

Abnormal atrial arrangement (HP:0011535)

Abnormal male germ cell morphology (HP:0012863)

Abnormal spatial orientation of the cardiac segments (HP:0011534)

Aplasia/hypoplasia of proximal toe phalanx (HP:0010203)

Abnormal sperm morphology (HP:0012864)

Vanishing testis (HP:0012870)

Varicocele (HP:0012871)

Ivory epiphysis of the middle phalanx of the 4th finger (HP:0009220)

Congenitally corrected transposition of the great arteries (HP:0011540)

Abnormal CSF homovanillic acid concentration (HP:0034200)

Small epiphysis of the middle phalanx of the 4th finger (HP:0009222)

Pseudoepiphysis of the middle phalanx of the 4th finger (HP:0009221)

Triangular epiphysis of the middle phalanx of the 4th finger (HP:0009224)

Rachitic rosary (HP:0000897)

Stippling of the epiphysis of the middle phalanx of the 4th finger (HP:0009223)

Short proximal phalanx of the 5th finger (HP:0009226)

Aplasia of the proximal phalanx of the 5th finger (HP:0009225)

Short clavicles (HP:0000894)

Bullet-shaped proximal phalanx of the 5th finger (HP:0009228)

Bulging of the costochondral junction (HP:0000893)

Broad proximal phalanx of the 5th finger (HP:0009227)

Rib exostoses (HP:0000896)

Lateral clavicle hook (HP:0000895)

Curved proximal phalanx of the 5th finger (HP:0009229)

Ivory epiphysis of the middle phalanx of the 5th finger (HP:0009209)

Multiple bilateral congenital hypertrophy of retinal pigment epithelium (HP:0011529)

Fetal subependymal hemorrhage (HP:0034209)

Increased circulating prolactin concentration (HP:0000870)

Solitary congenital hypertrophy of retinal pigment epithelium (HP:0011528)

Lentiglobus (HP:0011527)

Decreased scrotal rugation (HP:0012858)

Esophageal leukoplakia (HP:0012859)

Abnormal iduronate sulfatase concentration (HP:0034202)

Protanopia (HP:0011522)

Midshaft hypospadias (HP:0012854)

Deuteranopia (HP:0011521)

Scrotal hyperpigmentation (HP:0012855)

Increased CSF homovanillic acid concentration (HP:0034201)

Deuteranomaly (HP:0011520)

Abnormal scrotal rugation (HP:0012856)

Decreased circulating C1-esterase inhibitor concentration (HP:0034204)

Increased scrotal rugation (HP:0012857)

Decreased iduronate sulfatase level (HP:0034203)

Abnormality of lens shape (HP:0011526)

Abnormal fetal nervous system morphology (HP:0034206)

Small intestinal dysmotility (HP:0012850)

Iris nevus (HP:0011525)

Colonic stenosis (HP:0012851)

Iniencephaly (HP:0034205)

Iris melanoma (HP:0011524)

Hepatic bridging fibrosis (HP:0012852)

Fetal intracranial hemorrhage (HP:0034208)

Abnormal fetal gastrointestinal system morphology (HP:0034207)

Iris cyst (HP:0011523)

Scrotal hypospadias (HP:0012853)

Testicular fibrosis (HP:0012860)

Secondary amenorrhea (HP:0000869)

Decreased fertility in females (HP:0000868)

Small epiphysis of the middle phalanx of the 5th finger (HP:0009211)

Fetal cerebral parenchymal hemorrhage (HP:0034211)

Pseudoepiphysis of the middle phalanx of the 5th finger (HP:0009210)

Fetal intraventricular hemorrhage (HP:0034210)

Triangular epiphysis of the middle phalanx of the 5th finger (HP:0009213)

Abnormality of the hypothalamus-pituitary axis (HP:0000864)

Stippling of the epiphysis of the middle phalanx of the 5th finger (HP:0009212)

Secondary hyperparathyroidism (HP:0000867)

Bracket epiphysis of the middle phalanx of the 4th finger (HP:0009215)

Euthyroid multinodular goiter (HP:0000866)

Absent epiphysis of the middle phalanx of the 4th finger (HP:0009214)

Enlarged epiphysis of the middle phalanx of the 4th finger (HP:0009217)

Parathyroid hypoplasia (HP:0000860)

Cone-shaped epiphysis of the middle phalanx of the 4th finger (HP:0009216)

Central diabetes insipidus (HP:0000863)

Irregular epiphysis of the middle phalanx of the 4th finger (HP:0009219)

Fragmentation of the epiphysis of the middle phalanx of the 4th finger (HP:0009218)

Anomalous trichromacy (HP:0011519)

Dichromacy (HP:0011518)

Cone monochromacy (HP:0011517)

Achromatopsia (HP:0011516)

Epilepsia partialis continua (HP:0012847)

Small intestinal stenosis (HP:0012848)

Small intestinal bleeding (HP:0012849)

Macular schisis (HP:0011511)

Hair follicle neoplasm (HP:0012843)

Fetal posterior fossa hemorrhage (HP:0034213)

Drusen (HP:0011510)

Trichilemmoma (HP:0012844)

Fetal extra-axial hemorrhage (HP:0034212)

Single trichilemmoma (HP:0012845)

Fetal cerebellar hemisphere hemorrhage (HP:0034215)

Multiple trichilemmomata (HP:0012846)

Fetal intraventricular hemorrhage without ventriculomegaly (HP:0034214)

Abnormal stereopsis (HP:0011515)

Sonographic non-visualized fetal bladder (HP:0034217)

Abnormality of binocular vision (HP:0011514)

Proximal (HP:0012840)

Fetal cerebellar vermis hemorrhage (HP:0034216)

Retinal vascular tortuosity (HP:0012841)

Retinal cavernous angioma (HP:0011513)

Fetal intraventricular hemorrhage with periventricular hemorrhage (HP:0034219)

Hyperpigmentation of the fundus (HP:0011512)

Skin appendage neoplasm (HP:0012842)

Fetal intraventricular hemorrhage with ventriculomegaly (HP:0034218)

Temporal lobe megalencephaly (HP:0034220)

Short sternum (HP:0000879)

Pseudoepiphysis of the proximal phalanx of the 5th finger (HP:0009200)

Temporal lobe dysplasia (HP:0034222)

Abnormal temporal lobe morphology (HP:0034221)

Oligomenorrhea (HP:0000876)

Fragmentation of the epiphysis of the proximal phalanx of the 5th finger (HP:0009202)

Episodic hypertension (HP:0000875)

Stippling of the epiphysis of the proximal phalanx of the 5th finger (HP:0009201)

11 pairs of ribs (HP:0000878)

Bracket epiphysis of the middle phalanx of the 5th finger (HP:0009204)

Insulin-resistant diabetes mellitus at puberty (HP:0000877)

Absent epiphysis of the middle phalanx of the 5th finger (HP:0009203)

Hashimoto thyroiditis (HP:0000872)

Enlarged epiphysis of the middle phalanx of the 5th finger (HP:0009206)

Panhypopituitarism (HP:0000871)

Cone-shaped epiphysis of the middle phalanx of the 5th finger (HP:0009205)

Irregular epiphysis of the middle phalanx of the 5th finger (HP:0009208)

Diabetes insipidus (HP:0000873)

Fragmentation of the epiphysis of the middle phalanx of the 5th finger (HP:0009207)

Macular hole (HP:0011508)

Macular flecks (HP:0011507)

Choroidal neovascularization (HP:0011506)

Cystoid macular edema (HP:0011505)

Spatial pattern (HP:0012836)

Generalized (HP:0012837)

Localized (HP:0012838)

Macular hyperpigmentation (HP:0011509)

Distal (HP:0012839)

Polycoria (HP:0011500)

Bilateral (HP:0012832)

Absent end-diastolic umbilical artery flow (HP:0034224)

Unilateral (HP:0012833)

Elevated umbilical artery pulsatility (HP:0034223)

Right (HP:0012834)

Champagne cork sign (HP:0034226)

Left (HP:0012835)

Reversed end-diastolic umbilical artery flow (HP:0034225)

Bull's eye maculopathy (HP:0011504)

Proximal aortic arch hypoplasia (HP:0034228)

Aplasia of the fovea (HP:0011503)

Aortic isthmus hypoplasia (HP:0034227)

Posterior lenticonus (HP:0011502)

Position (HP:0012830)

Anterior lenticonus (HP:0011501)

Laterality (HP:0012831)

Distal aortic arch hypoplasia (HP:0034229)

Abnormality of renin-angiotensin system (HP:0000847)

Sigmoid kidney (HP:0034231)

Adrenal insufficiency (HP:0000846)

Inferior crossed fused renal ectopia (HP:0034230)

Adrenocortical abnormality (HP:0000849)

Disc kidney (HP:0034233)

Increased circulating renin level (HP:0000848)

Unilateral lump kidney (HP:0034232)

Hyperparathyroidism (HP:0000843)

Hyperinsulinemia (HP:0000842)

Elevated circulating growth hormone concentration (HP:0000845)

Hyperactive renin-angiotensin system (HP:0000841)

Adrenogenital syndrome (HP:0000840)

Profound (HP:0012829)

Mild (HP:0012825)

Moderate (HP:0012826)

Borderline (HP:0012827)

Severe (HP:0012828)

Unilateral vocal cord paresis (HP:0012821)

Superior crossed-fused renal ectopia (HP:0034235)

Bilateral vocal cord paresis (HP:0012822)

L-shaped kidney (HP:0034234)

Open neural tube defect (HP:0034237)

Clinical modifier (HP:0012823)

Severity (HP:0012824)

Apnea of prematurity (HP:0034236)

Renal vein thrombosis (HP:0034239)

Closed neural tube defect (HP:0034238)

Bilateral vocal cord paralysis (HP:0012820)

Fetal neck mass (HP:0034240)

Irregular menstruation (HP:0000858)

Abnormal fetal genitourinary system morphology (HP:0034242)

Neonatal insulin-dependent diabetes mellitus (HP:0000857)

Prenatal death (HP:0034241)

Gastric pseudomass (HP:0034244)

Hyperaldosteronism (HP:0000859)

Abnormal fetal pulmonary morphology (HP:0034243)

Thyroid adenoma (HP:0000854)

Goiter (HP:0000853)

Insulin resistance (HP:0000855)

Pseudohypoparathyroidism (HP:0000852)

Congenital hypothyroidism (HP:0000851)

Biventricular noncompaction cardiomyopathy (HP:0012818)

Myocarditis (HP:0012819)

Bilateral breast hypoplasia (HP:0012814)

Hypoplastic female external genitalia (HP:0012815)

Right ventricular noncompaction cardiomyopathy (HP:0012816)

Noncompaction cardiomyopathy (HP:0012817)

Wide nasal base (HP:0012810)

Fetal scalp mass (HP:0034246)

Wide nasal ridge (HP:0012811)

Fetal head anomaly (HP:0034245)

Fullness of paranasal tissue (HP:0012812)

Increased fetal lens echogenicity (HP:0034248)

Unilateral breast hypoplasia (HP:0012813)

Fetal lower urinary tract obstruction (HP:0034247)

Severe influenza infection (HP:0034249)

Hypoparathyroidism (HP:0000829)

Abnormality of the parathyroid gland (HP:0000828)

Abnormal corneal reflex (HP:0034251)

Fetal nuchal edema (HP:0034250)

Hyperinsulinemic hypoglycemia (HP:0000825)

Eosinophil nuclear hypersegmentation (HP:0034253)

Decreased response to growth hormone stimulation test (HP:0000824)

Absent corneal reflex (HP:0034252)

Colovesicular fistula (HP:0034255)

Precocious puberty (HP:0000826)

Face of the giant panda sign (HP:0034254)

Hypothyroidism (HP:0000821)

Abnormality of the thyroid gland (HP:0000820)

Delayed puberty (HP:0000823)

Hypertension (HP:0000822)

High insertion of columella (HP:0012807)

Abnormal nasal base (HP:0012808)

Narrow nasal base (HP:0012809)

Anisometropia (HP:0012803)

Corneal ulceration (HP:0012804)

Iris transillumination defect (HP:0012805)

Proboscis (HP:0012806)

C4 nephritic factor positivity (HP:0034257)

Accessory cranial suture (HP:0012800)

Absent dermoepidermal hemidesmosomes (HP:0034256)

Narrow jaw (HP:0012801)

Hypoplasia of the midbrain (HP:0034259)

Aplasia/Hypoplasia of the midbrain (HP:0034258)

Broad jaw (HP:0012802)

Aplastic zygomatic arch (HP:0034260)

Pituitary dwarfism (HP:0000839)

Absent lanugo (HP:0034262)

Aplasia/Hypoplasia of facial bones (HP:0034261)

Hyperthyroidism (HP:0000836)

Postcoital vaginal bleeding (HP:0034264)

Adrenal hypoplasia (HP:0000835)

Abnormal vaginal bleeding (HP:0034263)

Vaginal bleeding during sex (HP:0034266)

Increased circulating gonadotropin level (HP:0000837)

Mastalgia (HP:0034265)

Primary hypothyroidism (HP:0000832)

Insulin-resistant diabetes mellitus (HP:0000831)

Abnormality of the adrenal glands (HP:0000834)

obsolete Glucose intolerance (HP:0000833)

Anterior hypopituitarism (HP:0000830)

Abnormal dentin morphology (HP:0010299)

Smooth tongue (HP:0010298)

Cleft of alveolar ridge of maxilla (HP:0010289)

Abnormality of the sublingual glands (HP:0010288)

Abnormality of the submandibular glands (HP:0010287)

Aplasia/Hypoplasia of the uvula (HP:0010293)

Absent uvula (HP:0010292)

Prominent palatine ridges (HP:0010291)

Short hard palate (HP:0010290)

Bifid tongue (HP:0010297)

Ankyloglossia (HP:0010296)

Aplasia/Hypoplasia of the tongue (HP:0010295)

Palate fistula (HP:0010294)

Triangular epiphyses of the proximal phalanges of the hand (HP:0010278)

Stippling of the epiphyses of the proximal phalanges of the hand (HP:0010277)

Small epiphyses of the proximal phalanges of the hand (HP:0010276)

Aplasia of the distal phalanx of the 4th finger (HP:0009291)

Short distal phalanx of the 4th finger (HP:0009290)

Broad middle phalanx of the 4th finger (HP:0009293)

Thin lower lip vermilion (HP:0010282)

Broad distal phalanx of the 4th finger (HP:0009292)

Cleft lower lip (HP:0010281)

Short middle phalanx of the 4th finger (HP:0009295)

Stomatitis (HP:0010280)

Absent middle phalanx of 4th finger (HP:0009294)

Abnormal salivary gland morphology (HP:0010286)

Osteolytic defects of the middle phalanx of the 4th finger (HP:0009297)

Bullet-shaped middle phalanx of the 4th finger (HP:0009296)

Oral synechia (HP:0010285)

Aplasia/Hypoplasia of the middle phalanx of the 4th finger (HP:0009299)

Intra-oral hyperpigmentation (HP:0010284)

Aplasia of the proximal phalanx of the 4th finger (HP:0009298)

Absent epiphyses of the proximal phalanges of the hand (HP:0010268)

Mesocardia (HP:0011599)

Triangular epiphyses of the middle phalanges of the hand (HP:0010267)

Right aortic arch with retroesophageal left subclavian artery (HP:0011598)

Stippling of the epiphyses of the middle phalanges of the hand (HP:0010266)

Right aortic arch with left descending aorta and left ductus arteriosus (HP:0011597)

Small epiphyses of the middle phalanges of the hand (HP:0010265)

Left aortic arch with right descending aorta and right ductus arteriosus (HP:0011596)

Short 4th finger (HP:0009280)

Bracket epiphyses of the proximal phalanges of the hand (HP:0010269)

Abnormality of the distal phalanx of the 4th finger (HP:0009282)

Enlarged epiphyses of the proximal phalanges of the hand (HP:0010271)

Cone-shaped epiphyses of the proximal phalanges of the hand (HP:0010270)

Aplasia of the 4th finger (HP:0009281)

Abnormality of the proximal phalanx of the 4th finger (HP:0009284)

Abnormality of the middle phalanx of the 4th finger (HP:0009283)

Pseudoepiphyses of the proximal phalanges of the hand (HP:0010275)

Curved distal phalanx of the 4th finger (HP:0009286)

Ivory epiphyses of the proximal phalanges of the hand (HP:0010274)

Curved phalanges of the 4th finger (HP:0009285)

Irregular epiphyses of the proximal phalanges of the hand (HP:0010273)

Curved proximal phalanx of the 4th finger (HP:0009288)

Fragmentation of the epiphyses of the proximal phalanges of the hand (HP:0010272)

Curved middle phalanx of the 4th finger (HP:0009287)

Aplasia/Hypoplasia of the distal phalanx of the 4th finger (HP:0009289)

Absent epiphyses of the middle phalanges of the hand (HP:0010257)

Cervical aortic arch (HP:0011588)

Triangular epiphyses of the distal phalanges of the hand (HP:0010256)

Abnormal branching pattern of the aortic arch (HP:0011587)

Stippling of the epiphyses of the distal phalanges of the hand (HP:0010255)

Thoracoabdominal ectopia cordis (HP:0011586)

Small epiphyses of the distal phalanges of the hand (HP:0010254)

Thoracic ectopia cordis (HP:0011585)

Cone-shaped epiphyses of the middle phalanges of the hand (HP:0010259)

Bracket epiphyses of the middle phalanges of the hand (HP:0010258)

Common origin of the right brachiocephalic artery and left common carotid artery (HP:0011589)

Enlarged epiphyses of the middle phalanges of the hand (HP:0010260)

Triangular epiphysis of the proximal phalanx of the 4th finger (HP:0009271)

Left aortic arch with cervical origin of the right subclavian artery (HP:0011591)

Stippling of the epiphysis of the proximal phalanx of the 4th finger (HP:0009270)

Double aortic arch (HP:0011590)

Deviation of the 4th finger (HP:0009273)

Aplasia/Hypoplasia of the 4th finger (HP:0009272)

Pseudoepiphyses of the middle phalanges of the hand (HP:0010264)

Contracture of the distal interphalangeal joint of the 4th finger (HP:0009275)

Left aortic arch with retroesophageal right subclavian artery (HP:0011595)

Ivory epiphyses of the middle phalanges of the hand (HP:0010263)

Joint contracture of the 4th finger (HP:0009274)

Right aortic arch with retroesophageal diverticulum of Kommerell (HP:0011594)

Irregular epiphyses of the middle phalanges of the hand (HP:0010262)

Contracture of the metacarpophalangeal joint of the 4th finger (HP:0009277)

Left aortic arch with retroesophageal diverticulum of Kommerell (HP:0011593)

Fragmentation of the epiphyses of the middle phalanges of the hand (HP:0010261)

Contracture of the proximal interphalangeal joint of the 4th finger (HP:0009276)

Left aortic arch with isolated subclavian artery (HP:0011592)

Radial deviation of the 4th finger (HP:0009279)

Ulnar deviation of the 4th finger (HP:0009278)

Absent epiphyses of the distal phalanges of the hand (HP:0010246)

Partial atrioventricular canal defect (HP:0011577)

Abnormality of the epiphyses of the proximal phalanges of the hand (HP:0010245)

Intermediate atrioventricular canal defect (HP:0011576)

Abnormality of the epiphyses of the middle phalanges of the hand (HP:0010244)

Imperforate tricuspid valve (HP:0011575)

Abnormality of the epiphyses of the distal phalanx of finger (HP:0010243)

Imperforate atrioventricular valve (HP:0011574)

Enlarged epiphyses of the distal phalanges of the hand (HP:0010249)

Cone-shaped epiphyses of the distal phalanges of the hand (HP:0010248)

Unbalanced atrioventricular canal defect (HP:0011579)

Bracket epiphyses of the distal phalanges of the hand (HP:0010247)

Transitional atrioventricular canal defect (HP:0011578)

Triangular epiphysis of the distal phalanx of the 4th finger (HP:0009260)

Short chordae tendineae of the mitral valve (HP:0011580)

Bracket epiphysis of the proximal phalanx of the 4th finger (HP:0009262)

Absent epiphysis of the proximal phalanx of the 4th finger (HP:0009261)

Pseudoepiphyses of the distal phalanges of the hand (HP:0010253)

Enlarged epiphysis of the proximal phalanx of the 4th finger (HP:0009264)

Thoracocervical ectopia cordis (HP:0011584)

Ivory epiphyses of the distal phalanges of the hand (HP:0010252)

Cone-shaped epiphysis of the proximal phalanx of the 4th finger (HP:0009263)

Cervical ectopia cordis (HP:0011583)

Irregular epiphyses of the distal phalanges of the hand (HP:0010251)

Irregular epiphysis of the proximal phalanx of the 4th finger (HP:0009266)

Abdominal ectopia cordis (HP:0011582)

Fragmentation of the epiphyses of the distal phalanges of the hand (HP:0010250)

Fragmentation of the epiphysis of the proximal phalanx of the 4th finger (HP:0009265)

Double outlet left ventricle (HP:0011581)

Pseudoepiphysis of the proximal phalanx of the 4th finger (HP:0009268)

Ivory epiphysis of the proximal phalanx of the 4th finger (HP:0009267)

Small epiphysis of the proximal phalanx of the 4th finger (HP:0009269)

Pseudoepiphyses of the phalanges of the hand (HP:0010235)

Cor triatriatum dexter (HP:0011566)

Abnormal lower-limb motor evoked potentials (HP:0012898)

Ivory epiphyses of the phalanges of the hand (HP:0010234)

Common atrium (HP:0011565)

Handgrip myotonia (HP:0012899)

Irregular epiphyses of the phalanges of the hand (HP:0010233)

Mitral valve arcade (HP:0011564)

Abnormal ventriculoarterial connection (HP:0011563)

Fragmentation of the epiphyses of the phalanges of the hand (HP:0010232)

Aplasia of the middle phalanx of the hand (HP:0010239)

Paraspinal muscle hypertrophy (HP:0012894)

Triangular epiphyses of the phalanges of the hand (HP:0010238)

Cleft anterior mitral valve leaflet (HP:0011569)

Scapular muscle hypertrophy (HP:0012895)

Epiphyseal stippling of finger phalanges (HP:0010237)

Double orifice mitral valve (HP:0011568)

Abnormal motor evoked potentials (HP:0012896)

Small epiphyses of the phalanges of the hand (HP:0010236)

Sinus venosus atrial septal defect (HP:0011567)

Abnormal upper-limb motor evoked potentials (HP:0012897)

Bracket epiphysis of the distal phalanx of the 4th finger (HP:0009251)

Absent epiphysis of the distal phalanx of the 4th finger (HP:0009250)

Aplasia of the proximal phalanges of the hand (HP:0010242)

Enlarged epiphysis of the distal phalanx of the 4th finger (HP:0009253)

Hypoplastic tricuspid valve (HP:0011573)

Short proximal phalanx of finger (HP:0010241)

Cone-shaped epiphysis of the distal phalanx of the 4th finger (HP:0009252)

Supramitral ring (HP:0011572)

Irregular epiphysis of the distal phalanx of the 4th finger (HP:0009255)

Parachute mitral valve (HP:0011571)

Fragmentation of the epiphysis of the distal phalanx of the 4th finger (HP:0009254)

Congenital mitral stenosis (HP:0011570)

Pseudoepiphysis of the distal phalanx of the 4th finger (HP:0009257)

Ivory epiphysis of the distal phalanx of the 4th finger (HP:0009256)

Stippling of the epiphysis of the distal phalanx of the 4th finger (HP:0009259)

Small epiphysis of the distal phalanx of the 4th finger (HP:0009258)

Bracket epiphyses of the phalanges of the hand (HP:0010229)

Abnormality of the epiphysis of the 4th metacarpal (HP:0010224)

Double inlet left ventricle (HP:0011555)

Ovarian serous cystadenoma (HP:0012887)

Pseudoepiphysis of the 3rd metacarpal (HP:0010223)

Double inlet atrioventricular connection (HP:0011554)

Abnormality of the uterine cervix (HP:0012888)

Abnormality of the epiphysis of the 3rd metacarpal (HP:0010222)

Discordant atrioventricular connection (HP:0011553)

Cervical endometriosis (HP:0012889)

obsolete Pseudoepiphysis of the 2nd metacarpal (HP:0010221)

Ambiguous atrioventricular connection (HP:0011552)

Absent epiphyses of the phalanges of the hand (HP:0010228)

Double inlet to single ventricle with two atrioventricular valves (HP:0011559)

Fallopian tube cyst (HP:0012883)

Pseudoepiphysis of the 5th metacarpal (HP:0010227)

Double inlet to single ventricle with common atrioventricular orifice (HP:0011558)

Fallopian tube torsion (HP:0012884)

Abnormality of the epiphysis of the 5th metacarpal (HP:0010226)

Double inlet to single ventricle of indeterminate morphology (HP:0011557)

Fallopian tube duplication (HP:0012885)

Pseudoepiphysis of the 4th metacarpal (HP:0010225)

Double inlet right ventricle (HP:0011556)

Hemorrhagic ovarian cyst (HP:0012886)

Posteriorly placed anus (HP:0012890)

High posterior hairline (HP:0012891)

Broad distal phalanx of the 5th finger (HP:0009240)

Facial muscle hypertrophy (HP:0012892)

Neck muscle hypertrophy (HP:0012893)

Osteolytic defects of the distal phalanx of the 5th finger (HP:0009242)

Enlarged epiphyses of the phalanges of the hand (HP:0010231)

Straddling atrioventricular valve (HP:0011562)

Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)

Bullet-shaped distal phalanx of the 5th finger (HP:0009241)

Overriding atrioventricular valve (HP:0011561)

Distal/middle symphalangism of 5th finger (HP:0009244)

Mitral atresia (HP:0011560)

Patchy sclerosis of the distal phalanx of the 5th finger (HP:0009243)

Aplasia of the distal phalanx of the 5th finger (HP:0009246)

Triangular shaped distal phalanx of the 5th finger (HP:0009245)

Abnormality of the epiphysis of the proximal phalanx of the 4th finger (HP:0009248)

Abnormality of the epiphysis of the middle phalanx of the 4th finger (HP:0009247)

Abnormality of the epiphysis of the distal phalanx of the 4th finger (HP:0009249)

Second degree atrioventricular block (HP:0011706)

First degree atrioventricular block (HP:0011705)

Sick sinus syndrome (HP:0011704)

Sinus tachycardia (HP:0011703)

Atrioventricular dissociation (HP:0011709)

Mobitz II atrioventricular block (HP:0011708)

Mobitz I atrioventricular block (HP:0011707)

Decreased serum terminal complement component (HP:0033057)

Reduced insulin like growth factor binding protein acid labile subunit concentration (HP:0045046)

Elevated circulating acylcarnitine concentration (HP:0045045)

Decreased serum complement C7 (HP:0033058)

Decreased serum complement C6 (HP:0033059)

Decreased serum complement C4b (HP:0045044)

Decreased serum complement C4a (HP:0045043)

Abnormal electrophysiology of sinoatrial node origin (HP:0011702)

Decreased serum complement C4 (HP:0045042)

Multifocal atrial tachycardia (HP:0011701)

Reduced lactate dehydrogenase B level (HP:0045041)

Automatic atrial tachycardia (HP:0011700)

Abnormal lactate dehydrogenase level (HP:0045040)

Decreased serum complement C5 (HP:0033060)

Increased factor IX activity (HP:0033061)

Abnormal factor IX activity (HP:0033062)

Shortened sleep cycle (HP:0033063)

Osteolysis involving bones of the upper limbs (HP:0045039)

Renal interstitial globotriaosylceramide inclusions (HP:0033064)

Mild albuminuria (HP:0033065)

Gastric lymphoma (HP:0045038)

Abnormality of jaw muscles (HP:0045037)

Severe albuminuria (HP:0033066)

Abnormal urinary copper concentration (HP:0045036)

Cystine crystalluria (HP:0033067)

Medication crystalluria (HP:0033068)

Decreased levels of alpha-fetoprotein (HP:0045057)

Abnormal levels of alpha-fetoprotein (HP:0045056)

Renal interstitial IgG4+ plasma cell infiltration (HP:0033069)

Tiger tail banding (HP:0045055)

Brachial plexus neuropathy (HP:0045054)

Abnormality of the lumbosacral nerve plexus (HP:0045053)

Abnormality of the brachial nerve plexus (HP:0045052)

Decreased DLCO (HP:0045051)

Increased DLCO (HP:0045050)

Impaired task monitoring (HP:0033071)

Abnormal macroscopic urine appearance (HP:0033072)

Urate tophus (HP:0033073)

Steroid-responsive anemia (HP:0033074)

Inappropriately normal thyroid-stimulating hormone level (HP:0033075)

Abnormal circulating free T4 level (HP:0033076)

Abnormal DLCO (HP:0045049)

Increased circulating free T4 level (HP:0033077)

Increased HbA2 hemoglobin (HP:0045048)

Decreased circulating free T4 level (HP:0033078)

HbS hemoglobin (HP:0045047)

Impaired self monitoring (HP:0033070)

Aplasia/hypoplasia involving bones of the extremities (HP:0045060)

Aplasia/Hypoplasia of the thyroid gland (HP:0033079)

Increased PIVKA-II (HP:0045063)

Decreased carnitine level in liver (HP:0045061)

Reduced TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033082)

Increased circulating farnesol concentration (HP:0033083)

Abnormal antral follicle count (HP:0033084)

Reduced antral follicle count (HP:0033085)

Increased antral follicle count (HP:0033086)

Quotidian fever (HP:0033087)

Valinuria (HP:0033088)

Hyperkeratotic papule (HP:0045059)

Abnormality of the testis size (HP:0045058)

Branched-chain aminoaciduria (HP:0033089)

Abnormal TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033080)

Absent TSH response to thyrotrophin-releasing hormone stimulation test (HP:0033081)

Distal femoral metaphyseal irregularity (HP:0045079)

Sparse eyebrow (HP:0045075)

Thin eyebrow (HP:0045074)

Serositis (HP:0045073)

Increased glutamine family amino acid level in urine (HP:0033093)

Increased urine glutamate level (HP:0033094)

Increased sulfur amino acid level in urine (HP:0033095)

Increased aspartate family amino acid level in urine (HP:0033096)

Increased urine proteinogenic amino acid derivative level (HP:0033097)

Increased urinary non-proteinogenic amino acid level (HP:0033098)

Increased serine family amino acid in urine (HP:0033099)

Increased aromatic amino acid level in urine (HP:0033090)

Tyrosinuria (HP:0033091)

Increased urine succinate level (HP:0033092)

Decreased body mass index (HP:0045082)

Abnormality of body mass index (HP:0045081)

Decreased proportion of CD3-positive T cells (HP:0045080)

Distinctive finding (HP:0045089)

Clinical relevance (HP:0045088)

Hip joint hypermobility (HP:0045087)

Knee joint hypermobility (HP:0045086)

Atrophy of masseter muscle (HP:0045085)

Limb myoclonus (HP:0045084)

obsolete Increased body mass index (HP:0045083)

Minor finding (HP:0045090)

Flexion contracture of the 4th toe (HP:0010339)

Polydactyly affecting the 3rd toe (HP:0010334)

Takotsubo cardiomyopathy (HP:0011665)

Flexion contracture of 3rd toe (HP:0010333)

Left ventricular noncompaction cardiomyopathy (HP:0011664)

Deviation of the 3rd toe (HP:0010332)

Right ventricular cardiomyopathy (HP:0011663)

Aplasia/Hypoplasia of the 3rd toe (HP:0010331)

Tricuspid atresia (HP:0011662)

Deviation of the 4th toe (HP:0010338)

Left superior vena cava draining directly to the left atrium (HP:0011669)

Aplasia/Hypoplasia of the 4th toe (HP:0010337)

Bilateral superior vena cava with no bridging vein (HP:0011668)

Abnormality of the phalanges of the 4th toe (HP:0010336)

Bilateral superior vena cava with bridging vein (HP:0011667)

Abnormality of the epiphyses of the 4th toe (HP:0010335)

Absent right superior vena cava (HP:0011666)

Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger (HP:0009350)

Cone dystrophy (HP:0008020)

Ivory epiphysis of the proximal phalanx of the 3rd finger (HP:0009352)

Abnormality of the epiphyses of the 5th toe (HP:0010341)

Cardiac myxoma (HP:0011672)

Irregular epiphysis of the proximal phalanx of the 3rd finger (HP:0009351)

Polydactyly affecting the 4th toe (HP:0010340)

Interrupted inferior vena cava with azygous continuation (HP:0011671)

Small epiphysis of the proximal phalanx of the 3rd finger (HP:0009354)

Left superior vena cava draining to coronary sinus (HP:0011670)

Pseudoepiphysis of the proximal phalanx of the 3rd finger (HP:0009353)

obsolete Congenital nuclear cataract (HP:0008024)

Triangular epiphysis of the proximal phalanx of the 3rd finger (HP:0009356)

Stippling of the epiphysis of the proximal phalanx of the 3rd finger (HP:0009355)

Horizontal opticokinetic nystagmus (HP:0008026)

Abnormality of the proximal phalanx of the 3rd finger (HP:0009358)

Abnormality of the distal phalanx of the 3rd finger (HP:0009357)

Cystoid macular degeneration (HP:0008028)

Abnormality of the epiphyses of the 3rd toe (HP:0010329)

Polydactyly affecting the 2nd toe (HP:0010328)

Tetralogy of Fallot with absent pulmonary valve (HP:0011659)

Abnormality of the epiphyses of the 2nd toe (HP:0010323)

Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis (HP:0011654)

Abnormality of the 5th toe (HP:0010322)

Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis (HP:0011653)

Abnormality of the 4th toe (HP:0010321)

Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis (HP:0011652)

Abnormality of the 3rd toe (HP:0010320)

Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis (HP:0011651)

Flexion contracture of the 2nd toe (HP:0010327)

Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis (HP:0011658)

Deviation of the 2nd toe (HP:0010326)

Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis (HP:0011657)

Aplasia/Hypoplasia of the 2nd toe (HP:0010325)

Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis (HP:0011656)

Abnormal morphology of phalanx of the 2nd toe (HP:0010324)

Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis (HP:0011655)

Ivory epiphysis of the distal phalanx of the 3rd finger (HP:0009341)

Abnormality of the phalanges of the 3rd toe (HP:0010330)

Anomalous origin of left pulmonary artery from ascending aorta (HP:0011661)

Anomalous origin of one pulmonary artery from ascending aorta (HP:0011660)

Irregular epiphysis of the distal phalanx of the 3rd finger (HP:0009340)

Peripheral opacification of the cornea (HP:0008011)

Small epiphysis of the distal phalanx of the 3rd finger (HP:0009343)

obsolete Congenital myopia (HP:0008012)

Pseudoepiphysis of the distal phalanx of the 3rd finger (HP:0009342)

Triangular epiphysis of the distal phalanx of the 3rd finger (HP:0009345)

Central fundal arteriolar microaneurysms (HP:0008014)

Stippling of the epiphysis of the distal phalanx of the 3rd finger (HP:0009344)

Bracket epiphysis of the proximal phalanx of the 3rd finger (HP:0009347)

Absent epiphysis of the proximal phalanx of the 3rd finger (HP:0009346)

obsolete Depigmented lesions of the retinal pigment epithelium (HP:0008017)

Enlarged epiphysis of the proximal phalanx of the 3rd finger (HP:0009349)

Cone-shaped epiphysis of the proximal phalanx of the 3rd finger (HP:0009348)

Superior lens subluxation (HP:0008019)

Abnormality of the 2nd toe (HP:0010319)

Xanthomatosis (HP:0000991)

Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)

Patent ductus arteriosus after premature birth (HP:0011649)

Scapular aplasia (HP:0010317)

Patent ductus arteriosus after birth at term (HP:0011648)

Asymmetry of the breasts (HP:0010312)

Coronary sinus atrial septal defect (HP:0011643)

Aplasia/Hypoplasia of the breasts (HP:0010311)

Abnormal coronary sinus morphology (HP:0011642)

Chylothorax (HP:0010310)

Coronary artery fistula (HP:0011641)

Single coronary artery origin (HP:0011640)

Ebstein anomaly of the tricuspid valve (HP:0010316)

Postductal coarctation of the aorta (HP:0011647)

Aplasia/Hypoplasia of the diaphragm (HP:0010315)

Juxtaductal coarctation of the aorta (HP:0011646)

Premature thelarche (HP:0010314)

Dilatation of the sinus of Valsalva (HP:0011645)

Breast hypertrophy (HP:0010313)

Coronary sinus diverticulum (HP:0011644)

Stippling of the epiphysis of the middle phalanx of the 3rd finger (HP:0009330)

Bilateral ductus arteriosus (HP:0011650)

Pruritus (HP:0000989)

Decreased corneal reflex (HP:0008000)

Abnormality of the epiphysis of the distal phalanx of the 3rd finger (HP:0009332)

Subglottic laryngitis (HP:0033000)

Foveal hyperpigmentation (HP:0008001)

Triangular epiphysis of the middle phalanx of the 3rd finger (HP:0009331)

Laryngeal papilloma (HP:0033001)

Abnormality of macular pigmentation (HP:0008002)

Abnormality of the epiphysis of the middle phalanx of the 3rd finger (HP:0009334)

Jerky ocular pursuit movements (HP:0008003)

Abnormality of the epiphysis of the proximal phalanx of the 3rd finger (HP:0009333)

Skin rash (HP:0000988)

Bracket epiphysis of the distal phalanx of the 3rd finger (HP:0009336)

Atypical scarring of skin (HP:0000987)

Congenital corneal dystrophy (HP:0008005)

Absent epiphysis of the distal phalanx of the 3rd finger (HP:0009335)

Palmoplantar keratoderma (HP:0000982)

Enlarged epiphysis of the distal phalanx of the 3rd finger (HP:0009338)

Primary congenital glaucoma (HP:0008007)

Cone-shaped epiphysis of the distal phalanx of the 3rd finger (HP:0009337)

obsolete Progressive central visual loss (HP:0008008)

Three rows of eyelashes (HP:0008009)

Fragmentation of the epiphysis of the distal phalanx of the 3rd finger (HP:0009339)

Bifid sternum (HP:0010309)

Joint contracture of the 3rd finger (HP:0009319)

Asternia (HP:0010308)

Anomalous origin of right coronary artery from the pulmonary artery (HP:0011639)

Stridor (HP:0010307)

Anomalous origin of left coronary artery from the pulmonary artery (HP:0011638)

Short thorax (HP:0010306)

Anomalous origin of coronary artery from the pulmonary artery (HP:0011637)

Spinal dysraphism (HP:0010301)

Partial right sided absence of pericardium (HP:0011632)

Bronchial papilloma (HP:0033002)

Abnormally low-pitched voice (HP:0010300)

Complete right sided absence of pericardium (HP:0011631)

Tracheal papilloma (HP:0033003)

Complete diaphragmatic absence of pericardium (HP:0011630)

Palmar warts (HP:0033004)

Plantar warts (HP:0033005)

Absence of the sacrum (HP:0010305)

Abnormal coronary artery origin (HP:0011636)

Diffuse alveolar damage (HP:0033006)

Spinal meningeal diverticulum (HP:0010304)

Partial diaphragmatic absence of pericardium (HP:0011635)

Architectural distortion of the lung (HP:0033007)

Abnormal spinal meningeal morphology (HP:0010303)

Partial left sided absence of pericardium (HP:0011634)

Increased Z-disc width (HP:0033008)

Spinal cord tumor (HP:0010302)

Complete left sided absence of pericardium (HP:0011633)

Increased fecal coproporphyrin 1 (HP:0033009)

Increased fecal coproporphyrin 3 (HP:0033010)

Absent epiphysis of the middle phalanx of the 3rd finger (HP:0009321)

Platystencephaly (HP:0033011)

Abnormality of the epiphyses of the 3rd finger (HP:0009320)

Abnormal salivary metabolite concentration (HP:0033012)

Axillary freckling (HP:0000997)

Cone-shaped epiphysis of the middle phalanx of the 3rd finger (HP:0009323)

Facial capillary hemangioma (HP:0000996)

Bracket epiphysis of the middle phalanx of the 3rd finger (HP:0009322)

Pyoderma (HP:0000999)

Fragmentation of the epiphysis of the middle phalanx of the 3rd finger (HP:0009325)

Hypertrichosis (HP:0000998)

Enlarged epiphysis of the middle phalanx of the 3rd finger (HP:0009324)

Molluscoid pseudotumors (HP:0000993)

Ivory epiphysis of the middle phalanx of the 3rd finger (HP:0009327)

Cutaneous photosensitivity (HP:0000992)

Irregular epiphysis of the middle phalanx of the 3rd finger (HP:0009326)

Melanocytic nevus (HP:0000995)

Small epiphysis of the middle phalanx of the 3rd finger (HP:0009329)

Pseudoepiphysis of the middle phalanx of the 3rd finger (HP:0009328)

Triangular shaped middle phalanx of the 4th finger (HP:0009309)

Total absence of the pericardium (HP:0011629)

Symphalangism of middle phalanx of 4th finger (HP:0009308)

Congenital defect of the pericardium (HP:0011628)

Aorto-ventricular tunnel (HP:0011627)

Scimitar anomaly (HP:0011626)

Gerbode ventricular septal defect (HP:0011621)

Abnormal salivary cortisol level (HP:0033013)

Absent ossification of the trapezium (HP:0045002)

Abnormality of abdominal situs (HP:0011620)

Abnormal ossification of the trapezium (HP:0045001)

Decreased salivary cortisol level (HP:0033014)

Increased salivary cortisol level (HP:0033015)

Chronic decreased circulating IgD (HP:0033016)

Multiple muscular ventricular septal defects (HP:0011625)

Transient decreased circulating IgD (HP:0033017)

Apical muscular ventricular septal defect (HP:0011624)

Chronic absent circulating IgD (HP:0033018)

Muscular ventricular septal defect (HP:0011623)

Male reproductive system neoplasm (HP:0033019)

Inlet ventricular septal defect (HP:0011622)

Ectodermal dysplasia (HP:0000968)

Female reproductive system neoplasm (HP:0033020)

Petechiae (HP:0000967)

Transient decreased circulating IgE (HP:0033021)

Broad proximal phalanx of the 4th finger (HP:0009310)

Chronic decreased circulating IgE (HP:0033022)

Edema (HP:0000969)

Chronic absent circulating IgE (HP:0033023)

Eczema (HP:0000964)

Osteolytic defects of the proximal phalanx of the 4th finger (HP:0009312)

Thin skin (HP:0000963)

Bullet-shaped proximal phalanx of the 4th finger (HP:0009311)

Hypohidrosis (HP:0000966)

Symphalangism affecting the proximal phalanx of the 4th finger (HP:0009314)

Cutis marmorata (HP:0000965)

Patchy sclerosis of the proximal phalanx of the 4th finger (HP:0009313)

Sacral dimple (HP:0000960)

Abnormal 3rd finger phalanx morphology (HP:0009316)

Triangular shaped proximal phalanx of the 4th finger (HP:0009315)

Hyperkeratosis (HP:0000962)

Aplasia/Hypoplasia of the 3rd finger (HP:0009318)

Cyanosis (HP:0000961)

Deviation of the 3rd finger (HP:0009317)

Pulmonary situs ambiguus with bilateral morphologic right lungs (HP:0011618)

Pulmonary situs ambiguus (HP:0011617)

Pallor (HP:0000980)

Pulmonary situs inversus (HP:0011616)

Abnormal pulmonary situs morphology (HP:0011615)

Pulmonary situs ambiguus with bilateral morphologic left lungs (HP:0011619)

Type IV truncus arteriosus (HP:0011610)

Transient decreased circulating IgA (HP:0033024)

obsolete Decreased urinary glucose concentration (HP:0045013)

Chronic absent circulating total IgG (HP:0033025)

Decreased urinary catecholamine concentration (HP:0045012)

White oral mucosal macule (HP:0033026)

Decreased urine bicarbonate concentration (HP:0045011)

Abnormality of peripheral nerves (HP:0045010)

Retinal peau d'orange (HP:0033027)

Interrupted aortic arch type C (HP:0011614)

Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)

Interrupted aortic arch type B (HP:0011613)

Anti-Jo-1 antibody positivity (HP:0033029)

Interrupted aortic arch type A (HP:0011612)

Interrupted aortic arch (HP:0011611)

Abnormal morphology of the radius (HP:0045009)

Abnormal shape of the radius (HP:0045008)

Abnormal substantia nigra morphology (HP:0045007)

Anti-glomerular basement membrane-antibody positivity (HP:0033030)

Purpura (HP:0000979)

Hyperpyrexia (HP:0033031)

Aplasia of lymphatic vessels (HP:0045006)

Bruising susceptibility (HP:0000978)

Neural tube defect (HP:0045005)

Triggered by an abusive adult (HP:0033032)

Abnormal ossification of the trapezoid bone (HP:0045004)

Anti-MDA5 antibody positivity (HP:0033033)

Abnormal ossification of the scaphoid (HP:0045003)

Anti-citrullinated protein antibody positivity (HP:0033034)

Hyperhidrosis (HP:0000975)

Short proximal phalanx of the 4th finger (HP:0009301)

Hyperextensible skin (HP:0000974)

Aplasia/Hypoplasia of the proximal phalanx of the 4th finger (HP:0009300)

Soft skin (HP:0000977)

Osteolytic defects of the distal phalanx of the 4th finger (HP:0009303)

Eczematoid dermatitis (HP:0000976)

Bullet-shaped distal phalanx of the 4th finger (HP:0009302)

Abnormal sweat gland morphology (HP:0000971)

Distal/middle symphalangism of 4th finger (HP:0009305)

Anhidrosis (HP:0000970)

Patchy sclerosis of the distal phalanx of the 4th finger (HP:0009304)

Cutis laxa (HP:0000973)

Patchy sclerosis of the middle phalanx of the 4th finger (HP:0009307)

Palmoplantar hyperkeratosis (HP:0000972)

Triangular shaped distal phalanx of the 4th finger (HP:0009306)

obsolete Transposition of the great arteries with ventricular septal defect (HP:0011607)

obsolete Transposition of the great arteries with intact ventricular septum (HP:0011606)

Congenitally corrected transposition of the great arteries with ventricular septal defect (HP:0011605)

Aortopulmonary window (HP:0011604)

Type III truncus arteriosus (HP:0011609)

Type II truncus arteriosus (HP:0011608)

Abnormal Schwann cell morphology (HP:0033035)

Decreased nasal nitric oxide (HP:0033036)

Migratory arthritis (HP:0033037)

Anti-RNA-polymerase-III-autoantibody positivity (HP:0033038)

Congenital malformation of the great arteries (HP:0011603)

Increased circulating precipitin level (HP:0033039)

Midline direction of ventricular apex (HP:0011602)

Rightward direction of ventricular apex (HP:0011601)

Abnormal direction of ventricular apex (HP:0011600)

Anti-Sm antibody positivity (HP:0033040)

Cytokine storm (HP:0033041)

Partial duplication of eyebrows (HP:0045018)

Hypoplastic ilia (HP:0000946)

Congenital malformation of the left heart (HP:0045017)

Abnormal chorion morphology (HP:0033042)

Edematous chorionic villi (HP:0033043)

obsolete Elevated serum long-chain fatty acids (HP:0045016)

Motor regression (HP:0033044)

Dumbbell-shaped long bone (HP:0000947)

Hypolipidemia (HP:0045014)

Bipedal edema (HP:0033045)

Short diaphyses (HP:0000941)

Abnormality of the metaphysis (HP:0000944)

Dysostosis multiplex (HP:0000943)

Abnormal diaphysis morphology (HP:0000940)

Michaelis-Gutmann bodies (HP:0033046)

Decreased urinary copper concentration (HP:0045035)

Body ache (HP:0033047)

Elevated urinary aminoisobutyric acid (HP:0045034)

Substantia nigra hypointensity on susceptibility-weighted imaging (HP:0033048)

Globus pallidus hypointensity on susceptibility-weighted imaging (HP:0033049)

Pharyngalgia (HP:0033050)

Impaired executive functioning (HP:0033051)

Psychogenic non-epileptic seizure (HP:0033052)

Eosinophilic fasciitis (HP:0045029)

Cafe-au-lait spot (HP:0000957)

Pseudoseizure (HP:0033053)

Microlissencephaly (HP:0045028)

Acanthosis nigricans (HP:0000956)

Myoclonic tremor (HP:0033054)

Abnormality of the thoracic cavity (HP:0045027)

Abnormality of the mediastinum (HP:0045026)

Impaired ability to plan (HP:0033055)

Dry skin (HP:0000958)

Impaired ability to organize (HP:0033056)

Narrow palpebral fissure (HP:0045025)

Hyperpigmentation of the skin (HP:0000953)

Jaundice (HP:0000952)

Single transverse palmar crease (HP:0000954)

Abnormality of the skin (HP:0000951)

Ankylosis of feet small joints (HP:0008090)

Short 4th toe (HP:0008093)

Widely spaced toes (HP:0008094)

Osteolysis of talus (HP:0008095)

Medially deviated second toe (HP:0008096)

Partial fusion of tarsals (HP:0008097)

Osteolytic defects of the proximal phalanx of the 2nd toe (HP:0010399)

Curved proximal phalanx of the 2nd toe (HP:0010398)

Bullet-shaped proximal phalanx of the 2nd toe (HP:0010397)

Hallux varus (HP:0008080)

Pes valgus (HP:0008081)

Medial deviation of the foot (HP:0008082)

2nd-5th toe middle phalangeal hypoplasia (HP:0008083)

Nonossified fifth metatarsal (HP:0008087)

Abnormality of the fifth metatarsal bone (HP:0008089)

Symphalangism affecting the phalanges of the 5th toe (HP:0010389)

Patchy sclerosis of 5th toe phalanx (HP:0010388)

Osteolytic defects of the phalanges of the 5th toe (HP:0010387)

Curved 5th toe phalanx (HP:0010386)

Sparse hair (HP:0008070)

Maternal hypertension (HP:0008071)

Abnormality of the distal phalanx of the 5th toe (HP:0010392)

Maternal virilization in pregnancy (HP:0008072)

Duplication of the phalanges of the 5th toe (HP:0010391)

Low maternal serum estriol (HP:0008073)

Triangular shaped phalanges of the 5th toe (HP:0010390)

Metatarsal periosteal thickening (HP:0008074)

Progressive pes cavus (HP:0008075)

Broad proximal phalanx of the 2nd toe (HP:0010396)

Osteoporotic tarsals (HP:0008076)

Aplasia/hypoplasia of the proximal phalanx of the 2nd toe (HP:0010395)

Abnormal morphology of the proximal phalanx of the 5th toe (HP:0010394)

Thin metatarsal cortices (HP:0008078)

Abnormality of the middle phalanx of the 5th toe (HP:0010393)

Absent fifth metatarsal (HP:0008079)

Triangular shaped phalanges of the 4th toe (HP:0010378)

Symphalangism affecting the phalanges of the 4th toe (HP:0010377)

Patchy sclerosis of 4th toe phalanx (HP:0010376)

Osteolytic defects of the phalanges of the 4th toe (HP:0010375)

Small epiphyses of the 5th finger (HP:0009390)

Duplication of phalanx of the 4th toe (HP:0010379)

Aplasia/Hypoplasia of the fovea (HP:0008060)

Triangular epiphyses of the 5th finger (HP:0009392)

Abnormality of the middle phalanx of the 4th toe (HP:0010381)

Aplasia/Hypoplasia of the retina (HP:0008061)

Stippling of the epiphyses of the 5th finger (HP:0009391)

Abnormality of the distal phalanx of the 4th toe (HP:0010380)

Aplasia/Hypoplasia affecting the anterior segment of the eye (HP:0008062)

Bracket epiphyses of the 4th finger (HP:0009394)

Aplasia/Hypoplasia of the lens (HP:0008063)

Absent epiphyses of the 4th finger (HP:0009393)

Ichthyosis (HP:0008064)

Enlarged epiphyses of the 4th finger (HP:0009396)

Bullet-shaped 5th toe phalanx (HP:0010385)

Aplasia/Hypoplasia of the skin (HP:0008065)

Cone-shaped epiphyses of the 4th finger (HP:0009395)

Broad phalanges of the 5th toe (HP:0010384)

Abnormal blistering of the skin (HP:0008066)

Irregular epiphyses of the 4th finger (HP:0009398)

Aplasia/Hypoplasia of the phalanges of the 5th toe (HP:0010383)

Abnormally lax or hyperextensible skin (HP:0008067)

Fragmentation of the epiphyses of the 4th finger (HP:0009397)

Abnormal morphology of the proximal phalanx of the 4th toe (HP:0010382)

Neoplasm of the skin (HP:0008069)

Ivory epiphyses of the 4th finger (HP:0009399)

Duplication of phalanx of the 3rd toe (HP:0010367)

Supraventricular tachycardia with a manifest accessory pathway on the septum (HP:0011698)

Triangular shaped phalanges of the 3rd toe (HP:0010366)

Supraventricular tachycardia with a manifest accessory pathway on the right free wall (HP:0011697)

Symphalangism affecting the phalanges of the 3rd toe (HP:0010365)

Supraventricular tachycardia with a manifest accessory pathway on the left free wall (HP:0011696)

Patchy sclerosis of 3rd toe phalanx (HP:0010364)

Cerebellar hemorrhage (HP:0011695)

Abnormality of the middle phalanx of the 3rd toe (HP:0010369)

Abnormality of the distal phalanx of the 3rd toe (HP:0010368)

Atrial reentry tachycardia (HP:0011699)

Short finger (HP:0009381)

Abnormal morphology of the proximal phalanx of the 3rd toe (HP:0010370)

Aplasia of the fingers (HP:0009380)

Abnormality of the palpebral fissures (HP:0008050)

obsolete Abnormality of the retinal pigment epithelium (HP:0008051)

Bracket epiphyses of the 5th finger (HP:0009383)

Retinal fold (HP:0008052)

Absent epiphyses of the 5th finger (HP:0009382)

Aplasia/Hypoplasia of the iris (HP:0008053)

Enlarged epiphyses of the 5th finger (HP:0009385)

Curved 4th toe phalanx (HP:0010374)

Abnormal morphology of the conjunctival vasculature (HP:0008054)

Cone-shaped epiphyses of the 5th finger (HP:0009384)

Bullet-shaped 4th toe phalanx (HP:0010373)

Aplasia/Hypoplasia affecting the uvea (HP:0008055)

Irregular epiphyses of the 5th finger (HP:0009387)

Broad phalanges of the 4th toe (HP:0010372)

Aplasia/Hypoplasia affecting the eye (HP:0008056)

Fragmentation of the epiphyses of the 5th finger (HP:0009386)

Aplasia/Hypoplasia of the phalanges of the 4th toe (HP:0010371)

Aplasia/Hypoplasia affecting the fundus (HP:0008057)

Pseudoepiphyses of the 5th finger (HP:0009389)

Aplasia/Hypoplasia of the optic nerve (HP:0008058)

Ivory epiphyses of the 5th finger (HP:0009388)

Aplasia/Hypoplasia of the macula (HP:0008059)

Abnormality of the distal phalanx of the 2nd toe (HP:0010356)

AV nodal tachycardia (HP:0011687)

Duplication of the phalanges of the 2nd toe (HP:0010355)

Abnormal coronary artery course (HP:0011686)

Triangular shaped phalanges of the 2nd toe (HP:0010354)

Infra-aortic superior vena cava (HP:0011685)

Second toe symphalangism (HP:0010353)

Non-restrictive ventricular septal defect (HP:0011684)

Aplasia/Hypoplasia of the phalanges of the 3rd toe (HP:0010359)

Abnormal morphology of the proximal phalanx of the 2nd toe (HP:0010358)

Supraventricular tachycardia with a concealed accessory connection (HP:0011689)

Abnormality of the middle phalanx of the 2nd toe (HP:0010357)

Supraventricular tachycardia with an accessory connection mediated pathway (HP:0011688)

Type A brachydactyly (HP:0009370)

Permanent junctional reciprocating tachycardia (HP:0011690)

Type A2 brachydactyly (HP:0009372)

Late onset congenital glaucoma (HP:0008041)

Type A1 brachydactyly (HP:0009371)

Broad phalanges of the 5th finger (HP:0009374)

Osteolytic defects of the phalanges of the 3rd toe (HP:0010363)

Supraventricular tachycardia with a manifest accessory pathway (HP:0011694)

Retinal arteriolar constriction (HP:0008043)

Type C brachydactyly (HP:0009373)

Curved 3rd toe phalanx (HP:0010362)

Supraventricular tachycardia with a concealed accessory pathway on the septum (HP:0011693)

Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)

Bullet-shaped 3rd toe phalanx (HP:0010361)

Supraventricular tachycardia with a concealed accessory pathway on the right free wall (HP:0011692)

Enlarged flash visual evoked potentials (HP:0008045)

Bullet-shaped phalanges of the 5th finger (HP:0009375)

Broad phalanges of the 3rd toe (HP:0010360)

Supraventricular tachycardia with a concealed accessory pathway on the left free wall (HP:0011691)

Abnormal retinal vascular morphology (HP:0008046)

Triangular shaped phalanges of the 5th finger (HP:0009378)

Abnormality of the vasculature of the eye (HP:0008047)

Patchy sclerosis of 5th finger phalanx (HP:0009377)

Abnormal line of Schwalbe morphology (HP:0008048)

Abnormality of the extraocular muscles (HP:0008049)

Rhomboid or triangular shaped 5th finger distal phalanx (HP:0009379)

Flexion contracture of the 5th toe (HP:0010345)

Tetralogy of Fallot with absent subarterial conus (HP:0011676)

Arrhythmia (HP:0011675)

Deviation of the 5th toe (HP:0010344)

Aplasia/Hypoplasia of the 5th toe (HP:0010343)

Cardiac teratoma (HP:0011674)

Abnormality of the phalanges of the 5th toe (HP:0010342)

Cardiac hemangioma (HP:0011673)

Bullet-shaped 2nd toe phalanx (HP:0010349)

Broad phalanges of the 2nd toe (HP:0010348)

Tetralogy of Fallot with pulmonary stenosis (HP:0011679)

Aplasia/Hypoplasia of the phalanges of the 2nd toe (HP:0010347)

Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries (HP:0011678)

Tetralogy of Fallot with atrioventricular canal defect (HP:0011677)

Retinal arteritis (HP:0008030)

Posterior Y-sutural cataract (HP:0008031)

Patchy sclerosis of 2nd toe phalanx (HP:0010352)

Restrictive ventricular septal defect (HP:0011683)

Osteolytic defects of the phalanges of the 2nd toe (HP:0010351)

Perimembranous ventricular septal defect (HP:0011682)

obsolete Congenital exotropia (HP:0008033)

Curved 2nd toe phalanx (HP:0010350)

Subarterial ventricular septal defect (HP:0011681)

Abnormal iris pigmentation (HP:0008034)

Single ventricle of indeterminate morphology (HP:0011680)

Retinitis pigmentosa inversa (HP:0008035)

obsolete Rod-cone dystrophy (HP:0008036)

Absent anterior chamber of the eye (HP:0008037)

Aplastic/hypoplastic lacrimal glands (HP:0008038)

Subepithelial corneal opacities (HP:0008039)

Facial neoplasm (HP:0012289)

Slender distal phalanx of finger (HP:0012296)

Slender proximal phalanx of finger (HP:0012297)

Long middle phalanx of finger (HP:0012298)

Long distal phalanx of finger (HP:0012299)

Fusion of gums (HP:0012292)

Abnormal genital pigmentation (HP:0012293)

Abnormal occipital bone morphology (HP:0012294)

Slender middle phalanx of finger (HP:0012295)

Mouth neoplasm (HP:0012290)

obsolete Tracheal neoplasm (HP:0012291)

Inferior oblique muscle overaction (HP:0025599)

Superior oblique muscle overaction (HP:0025594)

Doll-like facies (HP:0000295)

Superior oblique muscle restriction (HP:0025593)

Mask-like facies (HP:0000298)

Superior oblique muscle weakness (HP:0025592)

Facial hypotonia (HP:0000297)

Abnormal superior oblique muscle physiology (HP:0025591)

Loss of facial adipose tissue (HP:0000292)

Inferior oblique muscle weakness (HP:0025598)

Abnormality of facial adipose tissue (HP:0000291)

Inferior oblique muscle restriction (HP:0025597)

Low anterior hairline (HP:0000294)

Abnormal inferior oblique muscle physiology (HP:0025596)

Full cheeks (HP:0000293)

Superior oblique muscle underaction (HP:0025595)

Abnormality of the forehead (HP:0000290)

Abnormal circulating serine concentration (HP:0012278)

Abnormal extraocular muscle physiology (HP:0025590)

Hyposerinemia (HP:0012279)

Abnormal hypothalamus physiology (HP:0012285)

Abnormal hypothalamus morphology (HP:0012286)

Hypothalamic luteinizing hormone-releasing hormone deficiency (HP:0012287)

Neoplasm of head and neck (HP:0012288)

Chylous ascites (HP:0012281)

Morbilliform rash (HP:0012282)

Small distal femoral epiphysis (HP:0012283)

Small proximal tibial epiphyses (HP:0012284)

Cyclodeviation (HP:0025589)

Hepatic amyloidosis (HP:0012280)

Hypodeviation (HP:0025588)

Broad philtrum (HP:0000289)

Abnormality of the philtrum (HP:0000288)

Tapetal-like fundal reflex (HP:0025583)

Submacular hemorrhage (HP:0025582)

Foveal hemorrhage (HP:0025581)

Abnormal right atrium morphology (HP:0025580)

Hyperdeviation (HP:0025587)

Hypertropia (HP:0025586)

Hyperphoria (HP:0025585)

Hypotropia (HP:0025584)

Absent respiratory ciliary axoneme radial spokes (HP:0012267)

Myxoid liposarcoma (HP:0012268)

Abnormal muscle glycogen content (HP:0012269)

Autosomal dominant inheritance with paternal imprinting (HP:0012274)

Autosomal dominant inheritance with maternal imprinting (HP:0012275)

Digital flexor tenosynovitis (HP:0012276)

Hypoglycinemia (HP:0012277)

Decreased muscle glycogen content (HP:0012270)

Episodic upper airway obstruction (HP:0012271)

J wave (HP:0012272)

Increased carotid artery intimal medial thickness (HP:0012273)

Abnormal left atrium morphology (HP:0025579)

Aortic valve prolapse (HP:0025578)

Small face (HP:0000274)

Punctal stenosis (HP:0025572)

Facial grimacing (HP:0000273)

Christmas tree cataract (HP:0025571)

Long face (HP:0000276)

Choroidal vascular hyperpermeability (HP:0025570)

Narrow face (HP:0000275)

Delayed cranial suture closure (HP:0000270)

Abnormal inferior vena cava morphology (HP:0025576)

Abnormal superior vena cava morphology (HP:0025575)

Malar flattening (HP:0000272)

Macular hemorrhage (HP:0025574)

Abnormality of the face (HP:0000271)

Mild myopia (HP:0025573)

Absent outer dynein arms (HP:0012256)

Absent inner dynein arms (HP:0012257)

Abnormal axonemal organization of respiratory motile cilia (HP:0012258)

Absent inner and outer dynein arms (HP:0012259)

Immotile cilia (HP:0012263)

Absent central microtubular pair morphology of respiratory motile cilia (HP:0012264)

Ciliary dyskinesia (HP:0012265)

T-wave alternans (HP:0012266)

Abnormal central microtubular pair morphology of respiratory motile cilia (HP:0012260)

Abnormal respiratory motile cilium physiology (HP:0012261)

Abnormal ciliary motility (HP:0012262)

Polypoidal choroidal vasculopathy (HP:0025569)

Abnormal morphology of the choroidal vasculature (HP:0025568)

Central serous chorioretinopathy (HP:0025567)

Anterior chamber cells grade 4+ (HP:0025566)

Cranial asymmetry (HP:0000267)

Concave nail (HP:0001598)

Abnormality of the nail (HP:0001597)

Prominent occiput (HP:0000269)

Dolichocephaly (HP:0000268)

Anterior chamber cells grade 1+ (HP:0025561)

obsolete Abnormality of the ocular region (HP:0000284)

Anterior chamber cells (HP:0025560)

Increased facial adipose tissue (HP:0000287)

Epicanthus (HP:0000286)

Anterior chamber cells grade 3+ (HP:0025565)

Coarse facial features (HP:0000280)

Anterior chamber cells grade 2+ (HP:0025564)

Broad face (HP:0000283)

Anterior chamber cells grade 0 (HP:0025563)

Facial edema (HP:0000282)

Anterior chamber cells grade 0.5+ (HP:0025562)

Abnormal ST segment (HP:0012249)

Sex reversal (HP:0012245)

Oculomotor nerve palsy (HP:0012246)

Specific anosmia (HP:0012247)

Prolonged PR interval (HP:0012248)

Abnormal respiratory system morphology (HP:0012252)

Abnormal respiratory epithelium morphology (HP:0012253)

Ewing sarcoma (HP:0012254)

Dynein arm defect of respiratory motile cilia (HP:0012255)

ST segment depression (HP:0012250)

ST segment elevation (HP:0012251)

Lamellar cataract with riders (HP:0025558)

Periungual teleangiectasia (HP:0025555)

Retrognathia (HP:0000278)

Abnormal mandible morphology (HP:0000277)

Coronary cataract (HP:0025559)

Multiple joint contractures (HP:0002828)

Arthralgia (HP:0002829)

Halberd-shaped pelvis (HP:0002826)

Hip dislocation (HP:0002827)

Caudal appendage (HP:0002825)

Hyperplasia of the femoral trochanters (HP:0002822)

Abnormality of femur morphology (HP:0002823)

Neuropathic arthropathy (HP:0002821)

Growth abnormality (HP:0001507)

Urinary bladder sphincter dysfunction (HP:0002839)

Recurrent bronchitis (HP:0002837)

Failure to thrive (HP:0001508)

Aspiration (HP:0002835)

Bladder exstrophy (HP:0002836)

Cystic angiomatosis of bone (HP:0002833)

Metacarpal osteolysis (HP:0001504)

Flared femoral metaphysis (HP:0002834)

Long coccyx (HP:0002831)

Calcific stippling (HP:0002832)

6 metacarpals (HP:0001501)

Broad finger (HP:0001500)

Kyphosis (HP:0002808)

Arthrogryposis multiplex congenita (HP:0002804)

Accelerated bone age after puberty (HP:0002805)

Congenital contracture (HP:0002803)

Abnormality of the upper limb (HP:0002817)

Abnormality of the radius (HP:0002818)

Abnormality of the knee (HP:0002815)

Genu recurvatum (HP:0002816)

Abnormality of limb bone morphology (HP:0002813)

Abnormality of the lower limb (HP:0002814)

Coxa vara (HP:0002812)

Dumbbell-shaped metaphyses (HP:0002810)

Microcephaly (HP:0000252)

Rotary nystagmus (HP:0001583)

Elevated circulating ribitol concentration (HP:0025550)

Redundant skin (HP:0001582)

Progressive microcephaly (HP:0000253)

Yellow nodule (HP:0025554)

Periorbital ecchymosis with tarsal plate sparing (HP:0025553)

Dense calvaria (HP:0000250)

Recurrent skin infections (HP:0001581)

Periorbital purpura (HP:0025552)

Pigmented micronodular adrenocortical disease (HP:0001580)

Optic nerve misrouting (HP:0025551)

Increased circulating chylomicron concentration (HP:0012238)

Atransferrinemia (HP:0012239)

Agranulocytosis (HP:0012234)

Drug-induced agranulocytosis (HP:0012235)

Elevated sweat chloride (HP:0012236)

Urocanic aciduria (HP:0012237)

Levator palpebrae superioris atrophy (HP:0012241)

Superior rectus atrophy (HP:0012242)

Abnormal reproductive system morphology (HP:0012243)

Abnormal sex determination (HP:0012244)

Increased intramyocellular lipid droplets (HP:0012240)

Decreased mean corpuscular hemoglobin concentration (HP:0025547)

Brachycephaly (HP:0000248)

Primary hypercortisolism (HP:0001579)

Abnormal mean corpuscular hemoglobin concentration (HP:0025546)

Abnormal paranasal sinus morphology (HP:0000245)

Brachyturricephaly (HP:0000244)

obsolete Mood changes (HP:0001575)

Eccentric visual fixation (HP:0025549)

Sinusitis (HP:0000246)

Increased mean corpuscular hemoglobin concentration (HP:0025548)

Oxycephaly (HP:0000263)

Turricephaly (HP:0000262)

Maxillary lateral incisor microdontia (HP:0001593)

Mastoiditis (HP:0000265)

Alopecia (HP:0001596)

Abnormality of the mastoid (HP:0000264)

Abnormal hair morphology (HP:0001595)

Selective tooth agenesis (HP:0001592)

obsolete Decreased activity of complement receptor (HP:0025541)

Wide anterior fontanel (HP:0000260)

Bell-shaped thorax (HP:0001591)

Abnormal T cell subset distribution (HP:0025540)

Urethral stricture (HP:0012227)

Tension-type headache (HP:0012228)

CSF pleocytosis (HP:0012229)

Splenic rupture (HP:0012223)

Circulating immune complexes (HP:0012224)

Oligodontia of primary teeth (HP:0012225)

Ovarian teratoma (HP:0012226)

Rhegmatogenous retinal detachment (HP:0012230)

Exudative retinal detachment (HP:0012231)

Shortened QT interval (HP:0012232)

Intramuscular hematoma (HP:0012233)

V-sign (HP:0025536)

Shawl sign (HP:0025535)

Ocular melanocytosis (HP:0025534)

Peau d'orange (HP:0025533)

Macrocephaly (HP:0000256)

obsolete Primary ovarian failure (HP:0001587)

Acute sinusitis (HP:0000255)

Vesicovaginal fistula (HP:0001586)

Abnormal B cell subset distribution (HP:0025539)

Palmar edema (HP:0025538)

Plantar edema (HP:0025537)

Gingivitis (HP:0000230)

Polyhydramnios (HP:0001561)

Pituitary adenoma (HP:0002893)

Abnormality of the amniotic fluid (HP:0001560)

Neoplasm of the pancreas (HP:0002894)

Everted lower lip vermilion (HP:0000232)

Fetal polyuria (HP:0001563)

Uterine leiomyosarcoma (HP:0002891)

Oligohydramnios (HP:0001562)

Positive pathergy test (HP:0025532)

Thyroid carcinoma (HP:0002890)

Harlequin phenomenon (HP:0025531)

Xanthomas of the palmar creases (HP:0025530)

Entrapment neuropathy of suprascapular nerve (HP:0012216)

Increased urinary porphobilinogen (HP:0012217)

Alveolar soft part sarcoma (HP:0012218)

Erythema nodosum (HP:0012219)

Abnormal glomerular filtration rate (HP:0012212)

Decreased glomerular filtration rate (HP:0012213)

Increased glomerular filtration rate (HP:0012214)

Testicular microlithiasis (HP:0012215)

Non-caseating epithelioid cell granulomatosis (HP:0012220)

Pretibial blistering (HP:0012221)

Arachnoid hemangiomatosis (HP:0012222)

Tongue telangiectasia (HP:0000227)

Decreased fetal movement (HP:0001558)

Scaling skin on fingertip (HP:0025525)

Prenatal movement abnormality (HP:0001557)

Palmoplantar scaling skin (HP:0025524)

Ependymoma (HP:0002888)

Abnormal morphology of the chordae tendinae of the mitral valve (HP:0025523)

Oral cavity telangiectasia (HP:0000228)

Elongated chordae tendinae of the mitral valve (HP:0025522)

Abnormality of taste sensation (HP:0000223)

Vagal paraganglioma (HP:0002886)

Hyperpigmented nodule (HP:0025529)

Gingival hyperkeratosis (HP:0000222)

Annular cutaneous lesion (HP:0025528)

Gingival bleeding (HP:0000225)

Hepatoblastoma (HP:0002884)

Serpiginous cutaneous lesion (HP:0025527)

Hypogeusia (HP:0000224)

Asymmetry of the thorax (HP:0001555)

Medulloblastoma (HP:0002885)

Psoriasiform lesion (HP:0025526)

Macrodontia (HP:0001572)

Abnormality of skull size (HP:0000240)

Multiple impacted teeth (HP:0001571)

Trigonocephaly (HP:0000243)

Abnormality of the integument (HP:0001574)

Parietal bossing (HP:0000242)

Juvenile myelomonocytic leukemia (HP:0012209)

Increased body fat percentage (HP:0025521)

Calcinosis cutis (HP:0025520)

Globozoospermia (HP:0012205)

Abnormal sperm motility (HP:0012206)

Reduced sperm motility (HP:0012207)

Immotile sperm (HP:0012208)

obsolete Reduced prothrombin activity (HP:0012201)

Increased serum bile acid concentration (HP:0012202)

Onychomycosis (HP:0012203)

Recurrent vulvovaginal candidiasis (HP:0012204)

Abnormal renal morphology (HP:0012210)

Abnormal renal physiology (HP:0012211)

Multiple biliary hamartomas (HP:0025519)

Hydrocephalus (HP:0000238)

Morning glory anomaly (HP:0025514)

Small anterior fontanelle (HP:0000237)

Scleral rupture (HP:0025513)

Skin-colored papule (HP:0025512)

Large fontanelles (HP:0000239)

Nevus sebaceus (HP:0025511)

Abnormality of the head (HP:0000234)

Parathyroid adenoma (HP:0002897)

Visual gaze preference (HP:0025518)

Thin vermilion border (HP:0000233)

Embryonal neoplasm (HP:0002898)

Hypoplastic hippocampus (HP:0025517)

Abnormality of the anterior fontanelle (HP:0000236)

Papillary thyroid carcinoma (HP:0002895)

Coronary-pulmonary artery fistula (HP:0025516)

Abnormality of the fontanelles or cranial sutures (HP:0000235)

Neoplasm of the liver (HP:0002896)

Widely-spaced maxillary central incisors (HP:0001566)

Delayed thelarche (HP:0025515)

Central apnea (HP:0002871)

Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)

Ascites (HP:0001541)

Diastasis recti (HP:0001540)

Obstructive sleep apnea (HP:0002870)

Nevus spilus (HP:0025510)

Piezogenic pedal papules (HP:0025509)

Abnormality of prothrombin (HP:0012200)

Gottron's papules (HP:0025508)

Omphalocele (HP:0001539)

Pursed lips (HP:0000205)

Narrow iliac wing (HP:0002868)

Anomalous coronary artery arising from the opposite sinus (HP:0025503)

Cleft upper lip (HP:0000204)

Flared iliac wing (HP:0002869)

Overweight (HP:0025502)

Triangular mouth (HP:0000207)

Protuberant abdomen (HP:0001538)

Hypoplastic iliac wing (HP:0002866)

Class III obesity (HP:0025501)

Glossitis (HP:0000206)

Abnormal ilium morphology (HP:0002867)

Umbilical hernia (HP:0001537)

Class II obesity (HP:0025500)

Pierre-Robin sequence (HP:0000201)

Paraganglioma of head and neck (HP:0002864)

Yellow papule (HP:0025507)

Short lingual frenulum (HP:0000200)

Failure to thrive in infancy (HP:0001531)

Medullary thyroid carcinoma (HP:0002865)

Coronary artery sandwich anomaly (HP:0025506)

Bladder carcinoma (HP:0002862)

Anomalous origin of the circumflex artery from the right sinus of Valsalva (HP:0025505)

Oral cleft (HP:0000202)

Slender build (HP:0001533)

Myelodysplasia (HP:0002863)

Sudden episodic apnea (HP:0002882)

Hyperventilation (HP:0002883)

Furrowed tongue (HP:0000221)

Barrel-shaped chest (HP:0001552)

obsolete Respiratory difficulties (HP:0002880)

Velopharyngeal insufficiency (HP:0000220)

Abnormal umbilicus morphology (HP:0001551)

Thin upper lip vermilion (HP:0000219)

Broad secondary alveolar ridge (HP:0000216)

Abnormal rib cage morphology (HP:0001547)

Anisospondyly (HP:0002879)

Thick upper lip vermilion (HP:0000215)

High palate (HP:0000218)

Abnormal ileum morphology (HP:0001549)

Nocturnal hypoventilation (HP:0002877)

Xerostomia (HP:0000217)

Overgrowth (HP:0001548)

Respiratory failure (HP:0002878)

Gingival overgrowth (HP:0000212)

Gastroschisis (HP:0001543)

Exertional dyspnea (HP:0002875)

Trismus (HP:0000211)

Episodic tachypnea (HP:0002876)

Lip telangiectasia (HP:0000214)

Anteriorly placed anus (HP:0001545)

Prominent umbilicus (HP:0001544)

Decreased circulating total IgM (HP:0002850)

Small for gestational age (HP:0001518)

Decreased specific anti-polysaccharide antibody level (HP:0002848)

Disproportionate tall stature (HP:0001519)

Absence of lymph node germinal center (HP:0002849)

Abnormal B cell morphology (HP:0002846)

Obesity (HP:0001513)

Impaired memory B cell generation (HP:0002847)

obsolete Increased proportion of peripheral CD3+ T cells (HP:0002845)

Growth delay (HP:0001510)

Recurrent Burkholderia cepacia infections (HP:0002842)

Abnormal T cell morphology (HP:0002843)

Lymphadenitis (HP:0002840)

Intrauterine growth retardation (HP:0001511)

Recurrent fungal infections (HP:0002841)

Squamous cell carcinoma (HP:0002860)

Melanoma (HP:0002861)

Mild postnatal growth retardation (HP:0001530)

Hemihypertrophy (HP:0001528)

Rhabdomyosarcoma (HP:0002859)

Severe failure to thrive (HP:0001525)

Genu valgum (HP:0002857)

Meningioma (HP:0002858)

Increased proportion of HLA DR+ T cells (HP:0002853)

Large for gestational age (HP:0001520)

Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells (HP:0002851)

Death in infancy (HP:0001522)

Peripheral demyelination (HP:0011096)

Overjet (HP:0011095)

Increased overbite (HP:0011094)

Molarization of premolar (HP:0011093)

Spastic hemiparesis (HP:0011099)

Speech apraxia (HP:0011098)

Epileptic spasm (HP:0011097)

Mulberry molar (HP:0011092)

Gemination (HP:0011091)

Fused teeth (HP:0011090)

Impacted tooth (HP:0011079)

Hypomature dental enamel (HP:0011085)

Hypocalcification of dental enamel (HP:0011084)

Conical maxillary incisor (HP:0011083)

Conical primary incisor (HP:0011082)

Double tooth (HP:0011089)

Dens in dente (HP:0011088)

Talon cusp (HP:0011087)

Dentinogenesis imperfecta of primary and permanent teeth (HP:0011086)

Incisor macrodontia (HP:0011081)

Abnormal premolar morphology (HP:0011080)

Supernumerary tooth (HP:0011069)

Odontoma (HP:0011068)

Pressure ulcer (HP:0012399)

Localized hypoplasia of dental enamel (HP:0011074)

Abnormality of dental color (HP:0011073)

Rootless teeth (HP:0011072)

Abnormality of permanent molar morphology (HP:0011071)

Abnormality of canine (HP:0011078)

Abnormality of molar (HP:0011077)

Abnormality of premolar (HP:0011076)

Green teeth (HP:0011075)

Abnormal molar morphology (HP:0011070)

Localized periodontitis (HP:0011059)

Generalized periodontitis (HP:0011058)

Agenesis of second permanent molar (HP:0011057)

Acute bronchitis (HP:0012388)

Appendicular hypotonia (HP:0012389)

Abnormal incisor morphology (HP:0011063)

Seasonal allergy (HP:0012395)

Misalignment of incisors (HP:0011062)

Biliary dyskinesia (HP:0012396)

Abnormality of dental structure (HP:0011061)

Aortic atherosclerotic lesion (HP:0012397)

Dentinogenesis imperfecta limited to primary teeth (HP:0011060)

Peripheral edema (HP:0012398)

Mesiodens (HP:0011067)

Hyporeflexia of upper limbs (HP:0012391)

Jaw hyporeflexia (HP:0012392)

Allergy (HP:0012393)

Conical incisor (HP:0011065)

Abnormal number of incisors (HP:0011064)

Iodine contrast allergy (HP:0012394)

Perisylvian FDG hypermetabolism (HP:0025699)

Anal fissure (HP:0012390)

Mucin casts (HP:0025698)

Prominent antihelix (HP:0000395)

Pituitary macroadenoma (HP:0025693)

Lop ear (HP:0000394)

Atelencephaly (HP:0025692)

Impaired fasting glucose (HP:0025691)

Overfolded helix (HP:0000396)

Fetal intra-abdominal umbilical vein varix (HP:0025690)

Thickened helices (HP:0000391)

Fibrin casts (HP:0025697)

Airway casts (HP:0025696)

Mucus plug (HP:0025695)

Pituitary microadenoma (HP:0025694)

Agenesis of primary maxillary lateral incisor (HP:0011049)

Agenesis of permanent mandibular central incisor (HP:0011048)

Agenesis of primary mandibular central incisor (HP:0011047)

Agenesis of primary maxillary central incisor (HP:0011046)

Hemianopia (HP:0012377)

Fatigue (HP:0012378)

Abnormal enzyme/coenzyme activity (HP:0012379)

Rhinitis (HP:0012384)

Agenesis of maxillary premolar (HP:0011052)

Camptodactyly (HP:0012385)

Agenesis of premolar (HP:0011051)

Agenesis of permanent maxillary lateral incisor (HP:0011050)

Absent hallux (HP:0012386)

Bronchitis (HP:0012387)

Agenesis of first permanent molar tooth (HP:0011056)

Reduced carnitine O-palmitoyltransferase level (HP:0012380)

Agenesis of permanent molar (HP:0011055)

Delayed self-feeding during toddler years (HP:0012381)

Agenesis of molar (HP:0011054)

Left-to-right shunt (HP:0012382)

Agenesis of mandibular premolar (HP:0011053)

Bidirectional shunt (HP:0012383)

Extra-abdominal umbilical vein varix (HP:0025689)

Abnormal amyloid beta peptide CSF concentration (HP:0025688)

Increased amyloid beta 40 peptide CSF concentration (HP:0025687)

Otitis media (HP:0000388)

Absent earlobe (HP:0000387)

Chronic otitis media (HP:0000389)

Crouch gait (HP:0025682)

Distal clavicular thinning (HP:0025681)

Compound muscle action potential amplitude facilitation (HP:0025680)

Abnormal amyloid beta 40 peptide CSF concentration (HP:0025686)

Increased amyloid beta 42 peptide CSF concentration (HP:0025685)

Decreased amyloid beta 42 peptide CSF concentration (HP:0025684)

Abnormal amyloid beta 42 peptide CSF concentration (HP:0025683)

Abnormal renal resorption (HP:0011038)

Decreased urine output (HP:0011037)

Abnormality of renal excretion (HP:0011036)

Abnormal renal cortex morphology (HP:0011035)

Basilar invagination (HP:0012366)

Extra fontanelles (HP:0012367)

Flat face (HP:0012368)

Abnormal malar bone morphology (HP:0012369)

Abnormal helix morphology (HP:0011039)

Abnormal eye physiology (HP:0012373)

Aplasia/Hypoplasia of the cervical spine (HP:0011041)

Abnormality of the intrahepatic bile duct (HP:0011040)

obsolete Abnormal globe morphology (HP:0012374)

Chemosis (HP:0012375)

Microphakia (HP:0012376)

Agenesis of permanent maxillary central incisor (HP:0011045)

Abnormal number of permanent teeth (HP:0011044)

Prominence of the zygomatic bone (HP:0012370)

Abnormality of circulating adrenocorticotropin level (HP:0011043)

Hyperplasia of midface (HP:0012371)

Abnormal eye morphology (HP:0012372)

Abnormal blood potassium concentration (HP:0011042)

Diskitis (HP:0025679)

Fetal hydrothorax (HP:0025678)

Fetal chylothorax (HP:0025677)

Fetal pleural effusion (HP:0025676)

Prelingual sensorineural hearing impairment (HP:0000399)

Fused cervical vertebrae (HP:0002949)

Cervical kyphosis (HP:0002947)

Dysphonia (HP:0001618)

Vertebral fusion (HP:0002948)

obsolete Hoarse voice (caused by tumor impingement) (HP:0001613)

Intervertebral space narrowing (HP:0002945)

Weak cry (HP:0001612)

Supernumerary vertebrae (HP:0002946)

Hoarse cry (HP:0001615)

Thoracic scoliosis (HP:0002943)

Thoracolumbar scoliosis (HP:0002944)

Thoracic kyphosis (HP:0002942)

Nasal speech (HP:0001611)

Autoimmunity (HP:0002960)

Abnormal heart morphology (HP:0001627)

Immune dysregulation (HP:0002958)

Ventricular septal defect (HP:0001629)

Impaired Ig class switch recombination (HP:0002959)

Breech presentation (HP:0001623)

Abnormality of the cardiovascular system (HP:0001626)

Granulomatosis (HP:0002955)

High pitched voice (HP:0001620)

Vertebral compression fracture (HP:0002953)

Premature birth (HP:0001622)

Weak voice (HP:0001621)

Partial absence of cerebellar vermis (HP:0002951)

Leydig cell insensitivity to gonadotropin (HP:0002929)

Histidinuria (HP:0002927)

Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)

Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)

Abnormality of thyroid physiology (HP:0002926)

Rheumatoid factor positive (HP:0002923)

obsolete Decreased circulating aldosterone level (HP:0002924)

Abnormality of the cerebrospinal fluid (HP:0002921)

Increased CSF protein (HP:0002922)

Decreased circulating ACTH level (HP:0002920)

Hoarse voice (HP:0001609)

obsolete Vocal cord paralysis (caused by tumor impingement) (HP:0001606)

Lumbar hyperlordosis (HP:0002938)

Vocal cord paralysis (HP:0001605)

Abnormality of the voice (HP:0001608)

Distal sensory impairment (HP:0002936)

Subglottic stenosis (HP:0001607)

Hemivertebrae (HP:0002937)

Laryngeal stenosis (HP:0001602)

Laryngomalacia (HP:0001601)

Vocal cord paresis (HP:0001604)

Aldehyde oxidase deficiency (HP:0002932)

Ventral hernia (HP:0002933)

Impaired sensitivity to thyroid hormone (HP:0002930)

Abnormality of the larynx (HP:0001600)

Generalized aminoaciduria (HP:0002909)

Microscopic hematuria (HP:0002907)

Conjugated hyperbilirubinemia (HP:0002908)

Hyperphosphatemia (HP:0002905)

Hyperbilirubinemia (HP:0002904)

Hypocalcemia (HP:0002901)

Hyponatremia (HP:0002902)

Hypokalemia (HP:0002900)

Hypermagnesemia (HP:0002918)

Ketonuria (HP:0002919)

Abnormality of chromosome segregation (HP:0002916)

Hypomagnesemia (HP:0002917)

Hyperchloriduria (HP:0002914)

Methylmalonic acidemia (HP:0002912)

Myoglobinuria (HP:0002913)

Elevated hepatic transaminase (HP:0002910)

Fetal pericardial effusion (HP:0025671)

Abnormality of the auditory canal (HP:0000372)

Syntelencephaly (HP:0025670)

Abnormal cochlea morphology (HP:0000375)

Premature closure of the ductus arteriosus (HP:0025675)

Meconium pseudocyst (HP:0025674)

Acute otitis media (HP:0000371)

Loculated ascites (HP:0025673)

Abnormality of the middle ear (HP:0000370)

Fetal skin edema (HP:0025672)

Abnormal fallopian tube morphology (HP:0011027)

Abnormal fucosylation of O-linked protein glycosylation (HP:0012359)

Aplasia/Hypoplasia of the vagina (HP:0011026)

Abnormal cardiovascular system physiology (HP:0011025)

Abnormality of the gastrointestinal tract (HP:0011024)

Abnormal mannosylation of N-linked protein glycosylation (HP:0012355)

Decreased mannosylation of N-linked protein glycosylation (HP:0012356)

Internal hemorrhage (HP:0011029)

Increased mannosylation of N-linked protein glycosylation (HP:0012357)

Abnormality of blood circulation (HP:0011028)

Abnormal protein O-linked glycosylation (HP:0012358)

Abnormal blood transition element cation concentration (HP:0011030)

Abnormal sialylation of O-linked protein glycosylation (HP:0012362)

Decreased sialylation of O-linked protein glycosylation (HP:0012363)

Decreased urinary potassium (HP:0012364)

Hypophosphaturia (HP:0012365)

Amyloidosis (HP:0011034)

Impairment of fructose metabolism (HP:0011033)

Abnormality of fluid regulation (HP:0011032)

Decreased fucosylation of O-linked protein glycosylation (HP:0012360)

Abnormality of iron homeostasis (HP:0011031)

Increased fucosylation of O-linked protein glycosylation (HP:0012361)

Abnormal neck morphology (HP:0025668)

Low-set ears (HP:0000369)

Fetal neck anomaly (HP:0025667)

Very preterm birth (HP:0025666)

Extremely preterm birth (HP:0025665)

Abnormality of the nose (HP:0000366)

Abnormal pericardium morphology (HP:0001697)

Hearing impairment (HP:0000365)

Situs inversus totalis (HP:0001696)

Low-set, posteriorly rotated ears (HP:0000368)

Sudden death (HP:0001699)

Pericardial effusion (HP:0001698)

Abnormal neck physiology (HP:0025669)

Preauricular skin tag (HP:0000384)

Chiari type II malformation (HP:0025660)

Abnormality of periauricular region (HP:0000383)

Small earlobe (HP:0000385)

Moderate to late preterm birth (HP:0025664)

Reduced fetal femur/foot length ratio (HP:0025663)

Abnormal fetal skeletal morphology (HP:0025662)

Stapes ankylosis (HP:0000381)

Chiari type III malformation (HP:0025661)

obsolete Abnormality of urine glucose concentration (HP:0011016)

Decreased galactosylation of N-linked protein glycosylation (HP:0012348)

Abnormal blood glucose concentration (HP:0011015)

Abnormal sialylation of N-linked protein glycosylation (HP:0012349)

Abnormal glucose homeostasis (HP:0011014)

Abnormal circulating carbohydrate concentration (HP:0011013)

Morphea (HP:0012344)

Abnormality of chromosome condensation (HP:0011019)

Abnormal glycosylation (HP:0012345)

Abnormality of the cell cycle (HP:0011018)

Abnormal protein glycosylation (HP:0012346)

Abnormal cellular physiology (HP:0011017)

Abnormal protein N-linked glycosylation (HP:0012347)

Increased sialylation of N-linked protein glycosylation (HP:0012351)

Abnormal fucosylation of protein N-linked glycosylation (HP:0012352)

Decreased fucosylation of N-linked protein glycosylation (HP:0012353)

Increased fucosylation of N-linked protein glycosylation (HP:0012354)

Abnormal circulating prostaglandin circulation (HP:0011023)

Abnormal circulating unsaturated fatty acid concentration (HP:0011022)

Abnormality of circulating enzyme level (HP:0011021)

Abnormality of mucopolysaccharide metabolism (HP:0011020)

Decreased sialylation of N-linked protein glycosylation (HP:0012350)

Abnormal umbilical blood flow measurement (HP:0025657)

Prenatal double bubble sign (HP:0025656)

Placenta increta (HP:0025655)

Placenta acreta (HP:0025654)

Abnormal pinna morphology (HP:0000377)

Incomplete partition of the cochlea type II (HP:0000376)

Decreased circulating creatine kinase concentration (HP:0025659)

Cupped ear (HP:0000378)

obsolete Abnormal umbilical artery Doppler pattern in pregnancy (HP:0025658)

Subvalvular aortic stenosis (HP:0001682)

Small forehead (HP:0000350)

Angina pectoris (HP:0001681)

Secundum atrial septal defect (HP:0001684)

Ectopia cordis (HP:0001683)

Placenta percreta (HP:0025653)

Abnormal placental adhesion into the uterine wall (HP:0025652)

Coarctation of aorta (HP:0001680)

Steroid-dependent nephrotic syndrome (HP:0025650)

Abnormal homeostasis (HP:0012337)

Mixed cirrhosis (HP:0011005)

Abnormal systemic arterial morphology (HP:0011004)

Abnormal energy expenditure (HP:0012338)

High myopia (HP:0011003)

Increased resting energy expenditure (HP:0012339)

Osteopetrosis (HP:0011002)

Acute (HP:0011009)

Abnormal sudomotor regulation (HP:0012333)

Temporal pattern (HP:0011008)

Extrahepatic cholestasis (HP:0012334)

Abnormality of folate metabolism (HP:0012335)

Abnormal morphology of the musculature of the neck (HP:0011006)

obsolete Reduced cerebrospinal fluid 5-methyltetrahydrofolate concentration (HP:0012336)

Decreased resting energy expenditure (HP:0012340)

Microprolactinoma (HP:0012341)

Macroprolactinoma (HP:0012342)

Decreased circulating ferritin concentration (HP:0012343)

Abnormal circulating polysaccharide concentration (HP:0011012)

Subacute (HP:0011011)

Chronic (HP:0011010)

High forehead (HP:0000348)

Abnormal aortic morphology (HP:0001679)

Bilateral polymicrogyria (HP:0025646)

Micrognathia (HP:0000347)

Atrioventricular block (HP:0001678)

Fixation-off epileptiform discharges (HP:0025644)

Widow's peak (HP:0000349)

Tarlov cyst (HP:0025643)

obsolete Rhythm disturbances associated with pheochromocytoma (HP:0001675)

Long philtrum (HP:0000343)

Complete atrioventricular canal defect (HP:0001674)

Steroid-sensitive nephrotic syndrome with frequent relapses (HP:0025649)

Whistling appearance (HP:0000346)

Coronary artery atherosclerosis (HP:0001677)

Steroid-sensitive nephrotic syndrome with infrequent relapses (HP:0025648)

obsolete Palpitations (with pheochromocytoma) (HP:0001676)

Steroid-sensitive nephrotic syndrome (HP:0025647)

Otosclerosis (HP:0000362)

Cardiac shunt (HP:0001693)

obsolete Pulsatile tinnitus (tympanic paraganglioma) (HP:0000361)

Atrial arrhythmia (HP:0001692)

Hearing abnormality (HP:0000364)

Cardiac arrest (HP:0001695)

Abnormal earlobe morphology (HP:0000363)

Right-to-left shunt (HP:0001694)

Elevated circulating glycolate concentration (HP:0025641)

Tinnitus (HP:0000360)

Muscular subvalvular aortic stenosis (HP:0001691)

Abnormal urinary mineral level (HP:0025640)

Abnormal celiac artery morphology (HP:0012326)

Celiac artery compression (HP:0012327)

Cementoma (HP:0012328)

Tufted angioma (HP:0012329)

Perifolliculitis (HP:0012322)

Sleep myoclonus (HP:0012323)

Myeloid leukemia (HP:0012324)

Chronic myelomonocytic leukemia (HP:0012325)

Pyelonephritis (HP:0012330)

Abnormal autonomic nervous system morphology (HP:0012331)

Abnormal autonomic nervous system physiology (HP:0012332)

Increased bone mineral density (HP:0011001)

Aplasia/Hypoplasia of the optic tract (HP:0011000)

Abnormality of the inner ear (HP:0000359)

Ureteral polyp (HP:0025635)

Abnormal ureter physiology (HP:0025634)

Posteriorly rotated ears (HP:0000358)

Abnormal ureter morphology (HP:0025633)

Reduced reactive oxygen species production in neutrophils (HP:0025632)

Loss of voice (HP:0001686)

Increased urinary zinc level (HP:0025639)

Myocardial fibrosis (HP:0001685)

Elevated urinary N-butyrylglycine (HP:0025638)

Abnormal location of ears (HP:0000357)

Sinus bradycardia (HP:0001688)

Vasospasm (HP:0025637)

Abnormality of the outer ear (HP:0000356)

Endometritis (HP:0025636)

Truncus arteriosus (HP:0001660)

Abnormality of tibia morphology (HP:0002992)

Short chin (HP:0000331)

Bradycardia (HP:0001662)

Fibular aplasia (HP:0002990)

Abnormality of fibula morphology (HP:0002991)

Absent pigmentation of the abdomen (HP:0012319)

Alpha-aminobutyric aciduria (HP:0025631)

Argininosuccinic aciduria (HP:0025630)

Histiocytoma (HP:0012315)

Fibrous tissue neoplasm (HP:0012316)

Sacroiliac arthritis (HP:0012317)

Occipital neuralgia (HP:0012318)

Monocytosis (HP:0012311)

Monocytopenia (HP:0012312)

Heberden's node (HP:0012313)

Bouchard's node (HP:0012314)

Absent pigmentation of the limbs (HP:0012320)

D-2-hydroxyglutaric aciduria (HP:0012321)

Anti-myelin-associated glycoprotein antibody positivity (HP:0025629)

Facial hemangioma (HP:0000329)

Abnormality of the maxilla (HP:0000326)

Prolonged QT interval (HP:0001657)

Reduced proportion of CD4+ effector memory T cells (HP:0025624)

Triangular face (HP:0000325)

Abnormal proportion of CD4+ effector memory cells (HP:0025623)

Aortic regurgitation (HP:0001659)

Elbow flexion contracture (HP:0002987)

obsolete Decreased proportion of CD4+ central memory cells (HP:0025622)

Hypoplasia of the maxilla (HP:0000327)

Myocardial infarction (HP:0001658)

obsolete Increased proportion of CD4+ central memory cells (HP:0025621)

Short philtrum (HP:0000322)

Mitral regurgitation (HP:0001653)

Increased circulating myristoleate level (HP:0025628)

Square face (HP:0000321)

Radial bowing (HP:0002986)

Increased circulating octadecanoate level (HP:0025627)

Facial asymmetry (HP:0000324)

Patent foramen ovale (HP:0001655)

Micromelia (HP:0002983)

Increased circulating oleate level (HP:0025626)

Abnormal heart valve morphology (HP:0001654)

Hypoplasia of the radius (HP:0002984)

Elevated proportion of CD4+ effector memory T cells (HP:0025625)

Sloping forehead (HP:0000340)

Abnormal cardiac septum morphology (HP:0001671)

Asymmetric septal hypertrophy (HP:0001670)

obsolete Tachycardia (with pheochromocytoma) (HP:0001673)

Narrow forehead (HP:0000341)

Decreased serum complement C9 (HP:0012308)

Abnormal proportion of CD4+ central memory cells (HP:0025620)

Cutaneous amyloidosis (HP:0012309)

Hypoplastic aortic arch (HP:0012304)

Coarctation of the descending aortic arch (HP:0012305)

Abnormal rib ossification (HP:0012306)

Spatulate ribs (HP:0012307)

Ureteral agenesis (HP:0012300)

Type II transferrin isoform profile (HP:0012301)

Herpes simplex encephalitis (HP:0012302)

Abnormal aortic arch morphology (HP:0012303)

Elevated plasma cell count (HP:0025619)

Abnormal monocyte count (HP:0012310)

Reduced plasma cell count (HP:0025618)

Broad forehead (HP:0000337)

Focal emotional seizure (HP:0025613)

Prominent supraorbital ridges (HP:0000336)

Right ventricular hypertrophy (HP:0001667)

Corneal astigmatism (HP:0025612)

Pugilistic facies (HP:0000339)

Epicanthus superciliaris (HP:0025611)

Hypomimic face (HP:0000338)

Transposition of the great arteries (HP:0001669)

Patellar dislocation (HP:0002999)

Posterior blepharitis (HP:0025610)

Limited elbow movement (HP:0002996)

Torsade de pointes (HP:0001664)

Abnormal plasma cell count (HP:0025617)

Ventricular fibrillation (HP:0001663)

Abnormality of the ulna (HP:0002997)

Sterile abscess (HP:0025616)

Abscess (HP:0025615)

Genu varum (HP:0002970)

Absent microvilli on the surface of peripheral blood lymphocytes (HP:0002971)

Cardiomegaly (HP:0001640)

Anterior blepharitis (HP:0025609)

Cicatricial ectropion (HP:0025608)

Upper eyelid entropion (HP:0025607)

Microretrognathia (HP:0000308)

Hypertrophic cardiomyopathy (HP:0001639)

Pointed chin (HP:0000307)

Cardiomyopathy (HP:0001638)

Abnormality of the midface (HP:0000309)

Congestive heart failure (HP:0001635)

Cubitus valgus (HP:0002967)

Inferior rectus muscle restriction (HP:0025602)

Mandibular prognathia (HP:0000303)

Mitral valve prolapse (HP:0001634)

Inferior rectus muscle weakness (HP:0025601)

Abnormality of the chin (HP:0000306)

Abnormal myocardium morphology (HP:0001637)

Cutaneous anergy (HP:0002965)

Abnormal inferior rectus muscle physiology (HP:0025600)

Tetralogy of Fallot (HP:0001636)

Oval face (HP:0000300)

Atrial septal defect (HP:0001631)

Abnormal delayed hypersensitivity skin test (HP:0002963)

Abnormal medial rectus muscle physiology (HP:0025606)

Lid lag on downgaze (HP:0025605)

Abnormal mitral valve morphology (HP:0001633)

Dysgammaglobulinemia (HP:0002961)

Orbital schwannoma (HP:0025604)

Abnormality of facial musculature (HP:0000301)

Abnormal superior rectus muscle physiology (HP:0025603)

Abnormality of the calf (HP:0002981)

Tibial bowing (HP:0002982)

Bird-like facies (HP:0000320)

Dextrocardia (HP:0001651)

Aortic valve stenosis (HP:0001650)

Femoral bowing (HP:0002980)

Smooth philtrum (HP:0000319)

Tachycardia (HP:0001649)

Abnormality of the orbital region (HP:0000315)

Abnormal aortic valve morphology (HP:0001646)

Sudden cardiac death (HP:0001645)

Bowing of the legs (HP:0002979)

Facial myokymia (HP:0000317)

Cor pulmonale (HP:0001648)

Hypertelorism (HP:0000316)

Aplasia/Hypoplasia involving the central nervous system (HP:0002977)

Bicuspid aortic valve (HP:0001647)

Round face (HP:0000311)

Pulmonic stenosis (HP:0001642)

Radioulnar synostosis (HP:0002974)

Abnormal pulmonary valve morphology (HP:0001641)

Dilated cardiomyopathy (HP:0001644)

Reduced delayed hypersensitivity (HP:0002972)

Patent ductus arteriosus (HP:0001643)

Abnormality of the forearm (HP:0002973)

Bilateral multifocal epileptiform discharges (HP:0011189)

EEG with focal sharp slow waves (HP:0011195)

EEG with series of focal spikes (HP:0011194)

EEG with focal spikes (HP:0011193)

Polymorphic focal epileptiform discharges (HP:0011192)

EEG with generalized sharp slow waves (HP:0011199)

EEG with generalized epileptiform discharges (HP:0011198)

EEG with focal spike waves (HP:0011197)

EEG with focal sharp waves (HP:0011196)

Unilateral multifocal epileptiform discharges (HP:0011191)

Uni- and bilateral multifocal epileptiform discharges (HP:0011190)

Beta-EEG (HP:0011179)

Alpha-EEG (HP:0011178)

EEG with hyperventilation-induced generalized epileptiform discharges (HP:0011184)

EEG with hyperventilation-induced focal epileptiform discharges (HP:0011183)

Interictal epileptiform activity (HP:0011182)

Low voltage EEG (HP:0011181)

Focal EEG discharges with secondary generalization (HP:0011188)

Focal EEG discharges with propagation to ipsilateral hemisphere (HP:0011187)

Focal epileptiform discharges with limited propagation to contralateral hemisphere (HP:0011186)

EEG with focal epileptiform discharges (HP:0011185)

Partial beta-EEG (HP:0011180)

Generalized clonic seizure (HP:0011169)

Focal seizure with eyelid myoclonia (HP:0011168)

Focal tonic seizure (HP:0011167)

Nuchal cord (HP:0012498)

Descending aortic dissection (HP:0012499)

Focal behavior arrest seizure (HP:0011173)

Complex febrile seizure (HP:0011172)

Simple febrile seizure (HP:0011171)

Generalized myoclonic-atonic seizure (HP:0011170)

EEG with 4-5/second background activity (HP:0011177)

EEG with constitutional variants (HP:0011176)

Focal motor seizure with version (HP:0011175)

Focal hyperkinetic seizure (HP:0011174)

Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159)

Focal sensory seizure with auditory features (HP:0011158)

Focal sensory seizure (HP:0011157)

obsolete Focal autonomic seizures without altered responsiveness (HP:0011156)

Cerebellopontine angle arachnoid cyst (HP:0012487)

Intraventricular arachnoid cyst (HP:0012488)

Suprasellar arachnoid cyst (HP:0012489)

obsolete Psychic auras (HP:0011162)

Anterior cerebral artery stenosis (HP:0012494)

Focal sensory seizure with olfactory features (HP:0011161)

Posterior cerebral artery stenosis (HP:0012495)

Focal sensory seizure with gustatory features (HP:0011160)

Reduced maximal inspiratory pressure (HP:0012496)

Reduced maximal expiratory pressure (HP:0012497)

Focal myoclonic seizure (HP:0011166)

Panniculitis (HP:0012490)

Focal sensory seizure with visual features (HP:0011165)

Abnormal dense tubular system (HP:0012491)

obsolete Vegetative auras (HP:0011164)

Cerebral artery stenosis (HP:0012492)

Focal sensory seizure with somatosensory features (HP:0011163)

Middle cerebral artery stenosis (HP:0012493)

Positive blood lead test (HP:0410399)

Bronchiolectasis (HP:0410397)

Increased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410395)

Increased proportion of central memory CD8-positive, alpha-beta T cells (HP:0410396)

Increased proportion of central memory CD4-positive, alpha-beta T cells (HP:0410393)

Increased proportion of effector memory CD4-positive, alpha-beta T cells (HP:0410394)

Increased proportion of CD4-positive, alpha-beta memory T cells (HP:0410391)

Increased proportion of CD8-positive, alpha-beta memory T cells (HP:0410392)

Decreased proportion of effector memory CD8-positive, alpha-beta T cells (HP:0410390)

Intermediate young adult onset (HP:0025709)

Early young adult onset (HP:0025708)

Hypoplastic nasal bone (HP:0025707)

Absent fetal nasal bone (HP:0025706)

Sensorineural hearing impairment (HP:0000407)

Exocrine pancreatic insufficiency (HP:0001738)

Pancreatic cysts (HP:0001737)

Progressive sensorineural hearing impairment (HP:0000408)

Abnormal nasopharynx morphology (HP:0001739)

Recurrent otitis media (HP:0000403)

Annular pancreas (HP:0001734)

Distended jugular lymphatic sacs (HP:0025701)

Stenosis of the external auditory canal (HP:0000402)

Pancreatitis (HP:0001733)

Anhydramnios (HP:0025700)

Conductive hearing impairment (HP:0000405)

Acute pancreatitis (HP:0001735)

Progressive hearing impairment (HP:0001730)

Abnormal fetal nasal bone visualization (HP:0025705)

Type 3 schizencephaly (HP:0025704)

Abnormality of the pancreas (HP:0001732)

Type 2 schizencephaly (HP:0025703)

Macrotia (HP:0000400)

Type 1 schizencephaly (HP:0025702)

Single ventricle (HP:0001750)

Narrow nasal ridge (HP:0000418)

Slender nose (HP:0000417)

Polysplenia (HP:0001748)

Abnormality of the nasal septum (HP:0000419)

Bulbous nose (HP:0000414)

Atresia of the external auditory canal (HP:0000413)

Splenomegaly (HP:0001744)

Accessory spleen (HP:0001747)

Abnormality of the choanae (HP:0000415)

Asplenia (HP:0001746)

Mixed hearing impairment (HP:0000410)

Phimosis (HP:0001741)

Abnormality of the spleen (HP:0001743)

Protruding ear (HP:0000411)

Nasal congestion (HP:0001742)

Double outlet right ventricle (HP:0001719)

Wolff-Parkinson-White syndrome (HP:0001716)

Mitral stenosis (HP:0001718)

Coronary artery calcification (HP:0001717)

Left ventricular hypertrophy (HP:0001712)

Abnormal left ventricle morphology (HP:0001711)

Ventricular hypertrophy (HP:0001714)

Abnormal cardiac ventricle morphology (HP:0001713)

Conotruncal defect (HP:0001710)

Thromboembolic stroke (HP:0001727)

obsolete Increased prevalence of valvular disease (HP:0001726)

Restrictive cardiomyopathy (HP:0001723)

High-output congestive heart failure (HP:0001722)

obsolete Aortic dilatation (HP:0001724)

Third degree atrioventricular block (HP:0001709)

Right ventricular failure (HP:0001708)

Right ventricular outlet tract obstruction (HP:0001705)

Tricuspid valve prolapse (HP:0001704)

Abnormal right ventricle morphology (HP:0001707)

Endocardial fibroelastosis (HP:0001706)

Pericarditis (HP:0001701)

Myocardial necrosis (HP:0001700)

Abnormal tricuspid valve morphology (HP:0001702)

Downslanted palpebral fissures (HP:0000494)

Abnormal foveal morphology (HP:0000493)

Absent sebaceous glands (HP:0410400)

Abnormality of eye movement (HP:0000496)

Recurrent corneal erosions (HP:0000495)

Deeply set eye (HP:0000490)

Abnormal eyelid morphology (HP:0000492)

Keratitis (HP:0000491)

obsolete Absence seizures with special features (HP:0011148)

Typical absence seizure (HP:0011147)

Dialeptic seizure (HP:0011146)

Symptomatic seizures (HP:0011145)

Decreased specific pneumococcal antibody level (HP:0012476)

Vocal tremor (HP:0012477)

Temporomandibular joint ankylosis (HP:0012478)

Absence seizure with eyelid myoclonia (HP:0011149)

Temporomandibular joint crepitus (HP:0012479)

Atypical absence status epilepticus (HP:0011151)

Abnormal alpha granules (HP:0012483)

Myoclonic absence seizure (HP:0011150)

Abnormal dense granules (HP:0012484)

Abnormal surface-connected open canalicular system (HP:0012485)

Myelitis (HP:0012486)

obsolete Focal autonomic seizures with altered responsiveness (HP:0011155)

Focal autonomic seizure (HP:0011154)

Abnormal cerebral vein morphology (HP:0012480)

Focal motor seizure (HP:0011153)

Cerebral venous angioma (HP:0012481)

Early onset absence seizures (HP:0011152)

Frontal venous angioma (HP:0012482)

obsolete Congenital strabismus (HP:0000487)

Strabismus (HP:0000486)

obsolete Abnormality of globe location or size (HP:0000489)

Retinopathy (HP:0000488)

Non-pruritic urticaria (HP:0011137)

Infantile spasms (HP:0012469)

Aplasia of the sweat glands (HP:0011136)

Aplasia/Hypoplasia of the sweat glands (HP:0011135)

Low-grade fever (HP:0011134)

Elevated hepatic iron concentration (HP:0012465)

Chronic respiratory acidosis (HP:0012466)

Gastric duplication (HP:0011139)

Acute respiratory acidosis (HP:0012467)

Abnormality of skin adnexa morphology (HP:0011138)

Chronic acidosis (HP:0012468)

Eclabion (HP:0012472)

Gastrointestinal duplication (HP:0011140)

Tongue atrophy (HP:0012473)

Carotid artery occlusion (HP:0012474)

Decreased circulating level of specific antibody (HP:0012475)

Age-related posterior subcapsular cataract (HP:0011144)

Age-related cortical cataract (HP:0011143)

Age-related nuclear cataract (HP:0011142)

Setting-sun eye phenomenon (HP:0012470)

Thick vermilion border (HP:0012471)

Age-related cataract (HP:0011141)

Blepharitis (HP:0000498)

Globe retraction and deviation on abduction (HP:0000497)

Abnormal eyelash morphology (HP:0000499)

Long neck (HP:0000472)

Gastrointestinal angiodysplasia (HP:0000471)

Thickened nuchal skin fold (HP:0000474)

Torticollis (HP:0000473)

Short neck (HP:0000470)

Nephroptosis (HP:0011126)

Medial calcification of small arteries (HP:0012458)

Abnormality of dermal melanosomes (HP:0011125)

Hypnic headache (HP:0012459)

Abnormal epidermal morphology (HP:0011124)

Inflammatory abnormality of the skin (HP:0011123)

Unilateral wrist flexion contracture (HP:0012454)

Bilateral fetal pyelectasis (HP:0011129)

obsolete Large artery calcification (HP:0012455)

Medial arterial calcification (HP:0012456)

Acute esophageal necrosis (HP:0011128)

Perioral eczema (HP:0011127)

Medial calcification of medium-sized arteries (HP:0012457)

Bacteriuria (HP:0012461)

Chin myoclonus (HP:0012462)

Elevated transferrin saturation (HP:0012463)

Decreased transferrin saturation (HP:0012464)

Increased sensitivity to ionizing radiation (HP:0011133)

Chronic furunculosis (HP:0011132)

Perianal dermatitis (HP:0011131)

Abnormal renal calyx morphology (HP:0011130)

Dysmorphic inferior cerebellar vermis (HP:0012460)

Increased adipose tissue around the neck (HP:0000468)

Short nail (HP:0001799)

Webbed neck (HP:0000465)

Abnormality of the neck (HP:0000464)

Hyperconvex nail (HP:0001795)

Neck muscle weakness (HP:0000467)

Anonychia (HP:0001798)

Limited neck range of motion (HP:0000466)

Astigmatism (HP:0000483)

Microcornea (HP:0000482)

Megalocornea (HP:0000485)

Hyperopic astigmatism (HP:0000484)

Abnormal cornea morphology (HP:0000481)

Retinal coloboma (HP:0000480)

Abnormal myelination (HP:0012447)

Abnormality of chemokine secretion (HP:0011115)

Delayed myelination (HP:0012448)

Defective production of NFKB1-dependent cytokines (HP:0011114)

Abnormality of cytokine secretion (HP:0011113)

Sacroiliac joint synovitis (HP:0012449)

Abnormality of serum cytokine level (HP:0011112)

Abnormality of the nasal dorsum (HP:0011119)

Abnormality of brain morphology (HP:0012443)

Brain atrophy (HP:0012444)

Abnormality of tumor necrosis factor secretion (HP:0011118)

Abnormality of interleukin secretion (HP:0011117)

Abnormality of interferon secretion (HP:0011116)

Decreased CSF 5-methyltetrahydrofolate concentration (HP:0012446)

Chronic constipation (HP:0012450)

Acute constipation (HP:0012451)

Restless legs (HP:0012452)

Bilateral wrist flexion contracture (HP:0012453)

Abnormality of skin physiology (HP:0011122)

Abnormality of skin morphology (HP:0011121)

Concave nasal ridge (HP:0011120)

Abnormal retinal morphology (HP:0000479)

Cystic hygroma (HP:0000476)

Broad neck (HP:0000475)

Abnormality of the eye (HP:0000478)

Worse in evening (HP:0410401)

Abnormality of toe (HP:0001780)

Choanal stenosis (HP:0000452)

Broad metatarsal (HP:0001783)

Triangular nasal tip (HP:0000451)

Bulbous tips of toes (HP:0001782)

Chronic sinusitis (HP:0011109)

Abnormality of blood volume homeostasis (HP:0011104)

Nonocclusive coronary artery atherosclerosis (HP:0012436)

Abnormal gallbladder morphology (HP:0012437)

Abnormal left ventricular outflow tract morphology (HP:0011103)

Abnormal gallbladder physiology (HP:0012438)

Ileal atresia (HP:0011102)

Abnormal biliary tract physiology (HP:0012439)

Recurrent sinusitis (HP:0011108)

Chronic fatigue (HP:0012432)

Abnormal social behavior (HP:0012433)

Recurrent aphthous stomatitis (HP:0011107)

Hypovolemia (HP:0011106)

Delayed social development (HP:0012434)

Hypervolemia (HP:0011105)

Ventral shortening of foreskin (HP:0012435)

Abnormal biliary tract morphology (HP:0012440)

Sphincter of Oddi dyskinesia (HP:0012441)

Gallbladder dyskinesia (HP:0012442)

Abnormality of immune serum protein physiology (HP:0011111)

Recurrent tonsillitis (HP:0011110)

Pear-shaped nose (HP:0000447)

Narrow nasal bridge (HP:0000446)

Prominent nose (HP:0000448)

Short foot (HP:0001773)

Wide nose (HP:0000445)

Bilateral talipes equinovarus (HP:0001776)

Convex nasal ridge (HP:0000444)

Tarsal osteovalgus (HP:0001775)

Small nail (HP:0001792)

Narrow nose (HP:0000460)

Fetal ascites (HP:0001791)

Anteverted nares (HP:0000463)

Aplasia/Hypoplasia of the cerebral white matter (HP:0012429)

Nonimmune hydrops fetalis (HP:0001790)

Stercoral ulcer (HP:0012425)

Optic disc drusen (HP:0012426)

Excessive femoral anteversion (HP:0012427)

Prominent calcaneus (HP:0012428)

Congenital absence of foreskin (HP:0012421)

Villous hypertrophy of choroid plexus (HP:0012422)

Colonic inertia (HP:0012423)

Chorioretinitis (HP:0012424)

Cerebral white matter hypoplasia (HP:0012430)

Episodic fatigue (HP:0012431)

Intestinal atresia (HP:0011100)

Anosmia (HP:0000458)

Hydrops fetalis (HP:0001789)

Depressed nasal ridge (HP:0000457)

Premature rupture of membranes (HP:0001788)

Flared nostrils (HP:0000454)

Ankle swelling (HP:0001785)

Choanal atresia (HP:0000453)

Bifid nasal tip (HP:0000456)

Abnormal delivery (HP:0001787)

Broad nasal tip (HP:0000455)

Narrow foot (HP:0001786)

Underdeveloped nasal alae (HP:0000430)

Pes cavus (HP:0001761)

Abnormal foot morphology (HP:0001760)

Hypoxemia (HP:0012418)

Foramen ovale aneurysm (HP:0025730)

Hyperoxemia (HP:0012419)

Duodenal atrophy (HP:0012414)

Abnormal blood gas level (HP:0012415)

Hypercapnia (HP:0012416)

Hypocapnia (HP:0012417)

Pure red cell aplasia (HP:0012410)

Premature pubarche (HP:0012411)

Premature adrenarche (HP:0012412)

Notched primary central incisor (HP:0012413)

Fetal vascular malperfusion (HP:0025729)

Meconium stained amniotic fluid (HP:0012420)

Periventricular pseudocyst (HP:0025728)

Abnormality of the nasal alae (HP:0000429)

Vestibular hypofunction (HP:0001756)

Abnormal fetal skin morphology (HP:0025723)

Cerebral infarct (HP:0025722)

Limited vertical extraocular movement (HP:0025721)

Prominent nasal bridge (HP:0000426)

High-frequency sensorineural hearing impairment (HP:0001757)

Limited horizontal extraocular movement (HP:0025720)

Epistaxis (HP:0000421)

Type 3 congenital pulmonary airway malformation (HP:0025727)

Short nasal septum (HP:0000420)

Vestibular dysfunction (HP:0001751)

Type 2 congenital pulmonary airway malformation (HP:0025726)

Type 1 congenital pulmonary airway malformation (HP:0025725)

Abnormal nasal bridge morphology (HP:0000422)

Caseous vernix-like desquamation (HP:0025724)

Toe syndactyly (HP:0001770)

Talipes equinovalgus (HP:0001772)

Achilles tendon contracture (HP:0001771)

Scissor gait (HP:0012407)

Medullary nephrocalcinosis (HP:0012408)

Cortical nephrocalcinosis (HP:0012409)

Decreased urine alpha-ketoglutarate concentration (HP:0012403)

Abnormal urine citrate concentration (HP:0012404)

Hypocitraturia (HP:0012405)

Hypercitraturia (HP:0012406)

Abnormal aldolase level (HP:0012400)

Abnormal urine alpha-ketoglutarate concentration (HP:0012401)

Increased urine alpha-ketoglutarate concentration (HP:0012402)

Maternal vascular malperfusion (HP:0025719)

Skeletal muscle hyperechogenicity (HP:0025718)

Skeletal muscle autophagosome accumulation (HP:0025717)

Abnormality of the nasal tip (HP:0000436)

Spontaneous chorioamniotic separation (HP:0025712)

Convergence-retraction nystagmus (HP:0025711)

Broad foot (HP:0001769)

Late young adult onset (HP:0025710)

Depressed nasal tip (HP:0000437)

Pes planus (HP:0001763)

Fetal anemia (HP:0025716)

Wide nasal bridge (HP:0000431)

Talipes equinovarus (HP:0001762)

Abnormal umbilical artery doppler waveform during pregnancy (HP:0025715)

Nasal mucosa telangiectasia (HP:0000434)

Hammertoe (HP:0001765)

Cerebral cortical microinfarct (HP:0025714)

Abnormal nasal mucosa morphology (HP:0000433)

Neurite dystrophy (HP:0025713)

Partial absence of finger (HP:0011299)

EEG with temporal sharp slow waves (HP:0011289)

EEG with parietal sharp slow waves (HP:0011288)

EEG with frontal sharp waves (HP:0011294)

EEG with central sharp waves (HP:0011293)

EEG with occipital sharp waves (HP:0011292)

EEG with central sharp slow waves (HP:0011291)

Prominent digit pad (HP:0011298)

Abnormal digit morphology (HP:0011297)

EEG with temporal sharp waves (HP:0011296)

EEG with parietal sharp waves (HP:0011295)

EEG with frontal sharp slow waves (HP:0011290)

Abnormality of urine bicarbonate level (HP:0011279)

Intrapulmonary sequestration (HP:0011278)

Abnormality of the urinary system physiology (HP:0011277)

Abnormal metencephalon morphology (HP:0011283)

Abnormality of hindbrain morphology (HP:0011282)

Abnormality of urine catecholamine level (HP:0011281)

Abnormality of urine calcium concentration (HP:0011280)

EEG with occipital sharp slow waves (HP:0011287)

Total colonic aganglionosis (HP:0011286)

Long-segment aganglionic megacolon (HP:0011285)

Short-segment aganglionic megacolon (HP:0011284)

Thromboembolism (HP:0001907)

Leukemia (HP:0001909)

Hypoplastic anemia (HP:0001908)

Anemia (HP:0001903)

Giant platelets (HP:0001902)

Congenital thrombocytopenia (HP:0001905)

Neutropenia in presence of anti-neutropil antibodies (HP:0001904)

Polycythemia (HP:0001901)

Increased hemoglobin (HP:0001900)

Reduced catalase level (HP:0012517)

Abnormal circle of Willis morphology (HP:0012518)

Hypoplastic posterior communicating artery (HP:0012519)

Upper limb pain (HP:0012513)

Lower limb pain (HP:0012514)

Hip flexor weakness (HP:0012515)

Tetralogy of Fallot with pulmonary atresia (HP:0012516)

Extra-axial cerebrospinal fluid accumulation (HP:0012510)

Temporal optic disc pallor (HP:0012511)

Diffuse optic disc pallor (HP:0012512)

Anophthalmia (HP:0000528)

Distal foot symphalangism (HP:0001859)

Long eyelashes (HP:0000527)

Progressive visual loss (HP:0000529)

Conjunctival telangiectasia (HP:0000524)

Subcapsular cataract (HP:0000523)

Podagra (HP:0001854)

Aniridia (HP:0000526)

Short distal phalanx of toe (HP:0001857)

Abnormality iris morphology (HP:0000525)

Proptosis (HP:0000520)

Abnormality of the tarsal bones (HP:0001850)

Alacrima (HP:0000522)

Bifid distal phalanx of toe (HP:0001853)

Sandal gap (HP:0001852)

Hypermetropia (HP:0000540)

Abnormality of blood and blood-forming tissues (HP:0001871)

Acroosteolysis of distal phalanges (feet) (HP:0001870)

Small pituitary gland (HP:0012506)

Weakness of orbicularis oculi muscle (HP:0012507)

Metamorphopsia (HP:0012508)

Reduced thyroxin-binding globulin (HP:0012509)

Abnormality of the internal capsule (HP:0012502)

Abnormality of the pituitary gland (HP:0012503)

Abnormal size of pituitary gland (HP:0012504)

Enlarged pituitary gland (HP:0012505)

Verrucous papule (HP:0012500)

Abnormality of the brainstem white matter (HP:0012501)

Abnormality of refraction (HP:0000539)

Pseudopapilledema (HP:0000538)

Deep plantar creases (HP:0001869)

obsolete Sparse and thin eyebrow (HP:0000535)

Abnormal eyebrow morphology (HP:0000534)

Epicanthus inversus (HP:0000537)

Autoamputation of foot (HP:0001868)

Corneal crystals (HP:0000531)

obsolete Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) (HP:0001862)

Chorioretinal atrophy (HP:0000533)

Clinodactyly of the 5th toe (HP:0001864)

Abnormal chorioretinal morphology (HP:0000532)

Toe clinodactyly (HP:0001863)

Conjunctivitis (HP:0000509)

Telecanthus (HP:0000506)

Broad toe (HP:0001837)

Visual impairment (HP:0000505)

Camptodactyly of toe (HP:0001836)

Ptosis (HP:0000508)

Split foot (HP:0001839)

Rocker bottom foot (HP:0001838)

Abnormal conjunctiva morphology (HP:0000502)

Long foot (HP:0001833)

Glaucoma (HP:0000501)

Abnormal metatarsal morphology (HP:0001832)

Abnormality of vision (HP:0000504)

Tortuosity of conjunctival vessels (HP:0000503)

Short toe (HP:0001831)

Postaxial foot polydactyly (HP:0001830)

Abnormality of the lens (HP:0000517)

Calcaneovalgus deformity (HP:0001848)

Long hallux (HP:0001847)

Developmental cataract (HP:0000519)

Cataract (HP:0000518)

Foot oligodactyly (HP:0001849)

Abnormality of the hallux (HP:0001844)

Abnormal electroretinogram (HP:0000512)

Slow saccadic eye movements (HP:0000514)

Overlapping toe (HP:0001845)

Metatarsus adductus (HP:0001840)

Vertical supranuclear gaze palsy (HP:0000511)

Foot acroosteolysis (HP:0001842)

Rod-cone dystrophy (HP:0000510)

Preaxial foot polydactyly (HP:0001841)

Paronychia (HP:0001818)

Deep-set nails (HP:0001814)

Absent fingernail (HP:0001817)

Thin nail (HP:0001816)

Dystrophic toenail (HP:0001810)

Hyperconvex fingernails (HP:0001812)

Foot polydactyly (HP:0001829)

Genital tract atresia (HP:0001827)

Hallux valgus (HP:0001822)

Broad nail (HP:0001821)

Weight loss (HP:0001824)

Leukonychia (HP:0001820)

Fragile nails (HP:0001808)

Ridged nail (HP:0001807)

Split nail (HP:0001809)

Hypoplastic fingernail (HP:0001804)

Nail pits (HP:0001803)

Onycholysis (HP:0001806)

Onychogryposis (HP:0001805)

Hypoplastic toenails (HP:0001800)

Absent toenail (HP:0001802)

Bifid tragus (HP:0011269)

Absent tragus (HP:0011268)

Microtia, third degree (HP:0011267)

Microtia, first degree (HP:0011266)

Heavy proteinuria (HP:0012597)

Abnormal urine potassium concentration (HP:0012598)

Abnormal urine phosphate concentration (HP:0012599)

Underdeveloped tragus (HP:0011272)

Prominent tragus (HP:0011271)

Duplicated tragus (HP:0011270)

Vascular skin abnormality (HP:0011276)

Recurrent mycobacterium avium complex infections (HP:0011275)

Recurrent mycobacterial infections (HP:0011274)

Anisocytosis (HP:0011273)

Tragal bridge of crus of helix (HP:0011258)

Serpiginous crus of helix (HP:0011257)

Crus of helix connected to antihelix (HP:0011256)

Absent crus of helix (HP:0011255)

Bilateral renal atrophy (HP:0012586)

Macroscopic hematuria (HP:0012587)

Steroid-resistant nephrotic syndrome (HP:0012588)

Expanded terminal portion of crus of helix (HP:0011259)

Multidrug-resistant nephrotic syndrome (HP:0012589)

Darwin tubercle of helix (HP:0011261)

Nephrotic range proteinuria (HP:0012593)

Darwin notch of helix (HP:0011260)

Moderate albuminuria (HP:0012594)

Mild proteinuria (HP:0012595)

Moderate proteinuria (HP:0012596)

Cleft earlobe (HP:0011265)

Abnormal urine output (HP:0012590)

Discontinuous ascending root of helix (HP:0011264)

Abnormal urinary electrolyte concentration (HP:0012591)

Forward facing earlobe (HP:0011263)

Crimped helix (HP:0011262)

Albuminuria (HP:0012592)

Abnormal anterior chamber morphology (HP:0000593)

Blue sclerae (HP:0000592)

Shallow anterior chamber (HP:0000594)

Abnormal sclera morphology (HP:0000591)

Progressive external ophthalmoplegia (HP:0000590)

Prominent superior crus of antihelix (HP:0011247)

Minimal change glomerulonephritis (HP:0012579)

Underdeveloped superior crus of antihelix (HP:0011246)

Abnormality of superior crus of antihelix (HP:0011245)

Abnormality of stem of antihelix (HP:0011244)

Abnormal nephron morphology (HP:0012575)

Glomerular C3 deposition (HP:0012576)

Absent antitragus (HP:0011249)

Thin glomerular basement membrane (HP:0012577)

Everted antitragus (HP:0011248)

Membranous nephropathy (HP:0012578)

Bifid antitragus (HP:0011250)

Bilateral renal dysplasia (HP:0012582)

Unilateral renal hypoplasia (HP:0012583)

Bilateral renal hypoplasia (HP:0012584)

Renal atrophy (HP:0012585)

Type II cryptotia (HP:0011254)

Type I cryptotia (HP:0011253)

Cryptotia (HP:0011252)

Calcium phosphate nephrolithiasis (HP:0012580)

Underdeveloped antitragus (HP:0011251)

Simple renal cyst (HP:0012581)

Coloboma (HP:0000589)

Shallow orbits (HP:0000586)

Band keratopathy (HP:0000585)

Optic disc coloboma (HP:0000588)

Abnormality of the optic nerve (HP:0000587)

Angulated antihelix (HP:0011236)

Lower eyelid edema (HP:0012568)

Additional crus of antihelix (HP:0011235)

Delayed menarche (HP:0012569)

Absent antihelix (HP:0011234)

Antihelical shelf (HP:0011233)

Premature epimetaphyseal fusion in tibia (HP:0012564)

Underdeveloped inferior crus of antihelix (HP:0011239)

Premature epimetaphyseal fusion in fibula (HP:0012565)

Prominent inferior crus of antihelix (HP:0011238)

Premature epimetaphyseal fusion in radius (HP:0012566)

Broad inferior crus of antihelix (HP:0011237)

Premature epimetaphyseal fusion in ulna (HP:0012567)

Ureter fissus (HP:0012571)

Ureter duplex (HP:0012572)

Global proximal tubulopathy (HP:0012573)

Mesangial hypercellularity (HP:0012574)

Abnormality of inferior crus of antihelix (HP:0011243)

Underdeveloped stem of antihelix (HP:0011242)

Serpiginous stem of antihelix (HP:0011241)

Prominent stem of antihelix (HP:0011240)

Synovial sarcoma (HP:0012570)

Ophthalmoparesis (HP:0000597)

Abnormality of the frontal hairline (HP:0000599)

Abnormality of the ear (HP:0000598)

Hypometric saccades (HP:0000571)

Abnormal saccadic eye movements (HP:0000570)

Retinal hemorrhage (HP:0000573)

Visual loss (HP:0000572)

Epiblepharon (HP:0011225)

EEG with centrotemporal focal spike waves (HP:0012557)

Ablepharon (HP:0011224)

Abnormal T3/T4 ratio (HP:0012558)

Metopic depression (HP:0011223)

Increased T3/T4 ratio (HP:0012559)

Depressed glabella (HP:0011222)

Broad eyebrow (HP:0011229)

Hypoplastic thumbnail (HP:0012553)

Horizontal eyebrow (HP:0011228)

Absent thumbnail (HP:0012554)

Elevated circulating C-reactive protein concentration (HP:0011227)

Absent nail of hallux (HP:0012555)

Aplasia/Hypoplasia of the eyelid (HP:0011226)

Hyperbeta-alaninemia (HP:0012556)

Decreased T3/T4 ratio (HP:0012560)

Unicuspid aortic valve (HP:0012561)

Premature epimetaphyseal fusion in hand (HP:0012562)

Premature epimetaphyseal fusion in foot (HP:0012563)

Infra-orbital fold (HP:0011232)

Prominent eyelashes (HP:0011231)

Laterally extended eyebrow (HP:0011230)

Microphthalmia (HP:0000568)

Increased hematocrit (HP:0001899)

Chorioretinal coloboma (HP:0000567)

Increased red blood cell mass (HP:0001898)

Lacrimal duct atresia (HP:0000564)

Normochromic anemia (HP:0001895)

Keratoconus (HP:0000563)

Thrombocytosis (HP:0001894)

Normocytic anemia (HP:0001897)

Esotropia (HP:0000565)

Reticulocytopenia (HP:0001896)

Upslanted palpebral fissure (HP:0000582)

Blepharophimosis (HP:0000581)

Punctate corneal epithelial erosions (HP:0000584)

Short face (HP:0011219)

Pigmentary retinopathy (HP:0000580)

EEG with photoparoxysmal response grade IV (HP:0011214)

Skewed maternal X inactivation (HP:0012546)

Abnormal involuntary eye movements (HP:0012547)

EEG with photoparoxysmal response grade III (HP:0011213)

EEG with photoparoxysmal response grade II (HP:0011212)

Fatty replacement of skeletal muscle (HP:0012548)

EEG with photoparoxysmal response grade I (HP:0011211)

Conjunctival lipoma (HP:0012549)

Abnormal shape of the frontal region (HP:0011218)

Onychauxis (HP:0012542)

Abnormal shape of the occiput (HP:0011217)

Hemosiderinuria (HP:0012543)

Elevated aldolase level (HP:0012544)

Hemihypsarrhythmia (HP:0011215)

Reduced aldolase level (HP:0012545)

Colonic varices (HP:0012550)

Absent neutrophil specific granules (HP:0012551)

Increased neutrophil nuclear projections (HP:0012552)

Vertical forehead creases (HP:0011221)

Prominent forehead (HP:0011220)

Nasolacrimal duct obstruction (HP:0000579)

Scotoma (HP:0000575)

Thick eyebrow (HP:0000574)

Exotropia (HP:0000577)

Centrocecal scotoma (HP:0000576)

Eosinophilia (HP:0001880)

Color vision defect (HP:0000551)

Leukopenia (HP:0001882)

EEG with generalized slow activity grade 4 (HP:0011209)

Undetectable electroretinogram (HP:0000550)

Abnormal leukocyte morphology (HP:0001881)

EEG with generalized slow activity grade 3 (HP:0011208)

Non-Hodgkin lymphoma (HP:0012539)

EEG with abnormally slow frequencies (HP:0011203)

Abnormal synaptic transmission (HP:0012535)

EEG with diffuse acceleration (HP:0011202)

Maternal anticardiolipin antibody positive (HP:0012536)

Food intolerance (HP:0012537)

EEG with changes in voltage (HP:0011201)

EEG with generalized polymorphic epileptiform discharges (HP:0011200)

Gluten intolerance (HP:0012538)

Pain (HP:0012531)

EEG with generalized slow activity grade 2 (HP:0011207)

EEG with generalized slow activity grade 1 (HP:0011206)

Chronic pain (HP:0012532)

EEG with intermittent slow activity (HP:0011205)

Allodynia (HP:0012533)

EEG with continuous slow activity (HP:0011204)

Dysesthesia (HP:0012534)

Axillary epidermoid cyst (HP:0012540)

Cephalohematoma (HP:0012541)

EEG with occipital slowing (HP:0011210)

Abnormal conjugate eye movement (HP:0000549)

Retinal degeneration (HP:0000546)

Abnormal erythrocyte morphology (HP:0001877)

Myopia (HP:0000545)

Pancytopenia (HP:0001876)

Cone/cone-rod dystrophy (HP:0000548)

Abnormal eosinophil morphology (HP:0001879)

obsolete Tapetoretinal degeneration (HP:0000547)

Hemolytic anemia (HP:0001878)

Impaired ocular adduction (HP:0000542)

Thrombocytopenia (HP:0001873)

Retinal detachment (HP:0000541)

Abnormality of thrombocytes (HP:0001872)

External ophthalmoplegia (HP:0000544)

Neutropenia (HP:0001875)

Optic disc pallor (HP:0000543)

Abnormality of neutrophils (HP:0001874)

Iron deficiency anemia (HP:0001891)

Autoimmune hemolytic anemia (HP:0001890)

Abnormal bleeding (HP:0001892)

Absent eyelashes (HP:0000561)

Abnormal number of alpha granules (HP:0012528)

Abnormal dense granule content (HP:0012529)

Abnormal platelet shape (HP:0012524)

Abnormal alpha granule distribution (HP:0012525)

Absence of alpha granules (HP:0012526)

Abnormal alpha granule content (HP:0012527)

Dilation of Virchow-Robin spaces (HP:0012520)

Optic nerve aplasia (HP:0012521)

Spider hemangioma (HP:0012522)

Oral aversion (HP:0012523)

Abnormal number of dense granules (HP:0012530)

Buphthalmos (HP:0000557)

Lymphopenia (HP:0001888)

Retinal dystrophy (HP:0000556)

Corneal scarring (HP:0000559)

Rieger anomaly (HP:0000558)

Megaloblastic anemia (HP:0001889)

Abnormal uvea morphology (HP:0000553)

Talipes calcaneovalgus (HP:0001884)

Tritanomaly (HP:0000552)

Talipes (HP:0001883)

Leukocoria (HP:0000555)

Foot osteomyelitis (HP:0001886)

Uveitis (HP:0000554)

Short 2nd toe (HP:0001885)

Conjunctival nodule (HP:0009903)

Cleft helix (HP:0009902)

Thin ear helix (HP:0009905)

Prominent ear helix (HP:0009904)

Attached earlobe (HP:0009907)

Aplasia/Hypoplasia of the earlobes (HP:0009906)

Uplifted earlobe (HP:0009909)

Anterior creases of earlobe (HP:0009908)

Aplasia of the middle ear ossicles (HP:0009910)

Abnormal tragus morphology (HP:0009912)

Abnormal temporal bone morphology (HP:0009911)

Crumpled ear (HP:0009901)

Unilateral deafness (HP:0009900)

Pustular rash (HP:0033605)

Glomerular capillary wire loop deposits (HP:0033604)

Bone marrow arrest at the promyelocytic stage (HP:0033607)

Bone marrow maturation arrest (HP:0033606)

Solid pulmonary nodule (HP:0033609)

Pulmonary nodule (HP:0033608)

Glomerular subepithelial immune-complex deposits (HP:0033601)

Fibrillary glomerular subepithelial deposits (HP:0033600)

Glomerular subepithelial deposits (HP:0033603)

Glomerular hyaline subepithelial deposits (HP:0033602)

Impaired pain sensation (HP:0007328)

Multiple small medullary renal cysts (HP:0008659)

Abnormality of lipoprotein cholesterol concentration (HP:0010979)

Abnormality of immune system physiology (HP:0010978)

Abnormal phagocytosis (HP:0010977)

Anemia of inadequate production (HP:0010972)

Absence of Lutheran antigen on erythrocytes (HP:0010971)

Blood group antigen abnormality (HP:0010970)

B lymphocytopenia (HP:0010976)

Abnormal B cell count (HP:0010975)

Abnormal myeloid leukocyte morphology (HP:0010974)

Duplication of the proximal phalanx of the 5th finger (HP:0009990)

Urethral stenosis (HP:0008661)

Complete duplication of the middle phalanx of the 5th finger (HP:0009992)

Frontal encephalocele (HP:0007330)

Renotubular dysgenesis (HP:0008660)

Complete duplication of the distal phalanx of the 5th finger (HP:0009991)

Ureteral obstruction (HP:0006000)

Renal sarcoma (HP:0008663)

Partial duplication of the distal phalanx of the 5th finger (HP:0009994)

Focal hemifacial clonic seizure (HP:0007332)

Complete duplication of the proximal phalanx of the 5th finger (HP:0009993)

Hypoplasia of the frontal lobes (HP:0007333)

Clitoral hypertrophy (HP:0008665)

Partial duplication of the proximal phalanx of the 5th finger (HP:0009996)

Bilateral tonic-clonic seizure with focal onset (HP:0007334)

Urethral sphincter sclerosis (HP:0008664)

Partial duplication of the middle phalanx of the 5th finger (HP:0009995)

Recurrent encephalopathy (HP:0007335)

Complete duplication of phalanx of hand (HP:0009998)

Duplication of phalanx of hand (HP:0009997)

Impaired histidine renal tubular absorption (HP:0008666)

Abnormal spermatogenesis (HP:0008669)

Hypotrophy of the small hand muscles (HP:0006006)

Hypermetric saccades (HP:0007338)

Gonadal dysgenesis, male (HP:0008668)

Partial duplication of the phalanx of hand (HP:0009999)

Abnormality of glycolipid metabolism (HP:0010969)

Anteriorly displaced urethral meatus (HP:0008648)

Complete duplication of the middle phalanx of the 4th finger (HP:0009979)

Abnormality of liposaccharide metabolism (HP:0010968)

Abnormal circulating carnitine concentration (HP:0010967)

Abnormal circulating fatty-acid anion concentration (HP:0010966)

Intralobar sequestration (HP:0010961)

Bronchopulmonary sequestration (HP:0010960)

Abnormal circulating phytanic acid concentration (HP:0010965)

Abnormal circulating long-chain fatty-acid concentration (HP:0010964)

Absence of stomach bubble on fetal sonography (HP:0010963)

Extralobar sequestration (HP:0010962)

Partial duplication of the distal phalanx of the 4th finger (HP:0009981)

Complete duplication of the proximal phalanx of the 4th finger (HP:0009980)

Autonomic erectile dysfunction (HP:0008652)

Partial duplication of the proximal phalanx of the 4th finger (HP:0009983)

Deep white matter hypodensities (HP:0007321)

Uric acid urolithiasis independent of gout (HP:0008651)

Partial duplication of the middle phalanx of the 4th finger (HP:0009982)

Duplication of phalanx of 5th finger (HP:0009985)

Crescentic glomerulonephritis (HP:0008653)

Incomplete male pseudohermaphroditism (HP:0008656)

Partial duplication of the phalanges of the 5th finger (HP:0009987)

Generalized dystonia (HP:0007325)

Aplasia/Hypoplasia of the fallopian tube (HP:0008655)

Complete duplication of the phalanges of the 5th finger (HP:0009986)

Progressive choreoathetosis (HP:0007326)

Duplication of the middle phalanx of the 5th finger (HP:0009989)

Mixed demyelinating and axonal polyneuropathy (HP:0007327)

Duplication of the distal phalanx of the 5th finger (HP:0009988)

Partial duplication of the middle phalanx of the 3rd finger (HP:0009969)

Bilateral renal agenesis (HP:0010958)

Rapid neurologic deterioration (HP:0007307)

Partial duplication of the distal phalanx of the 3rd finger (HP:0009968)

Congenital posterior urethral valve (HP:0010957)

Extrapyramidal dyskinesia (HP:0007308)

Fetal megacystis (HP:0010956)

Dilatation of the bladder (HP:0010955)

Gonadal hypoplasia (HP:0008639)

Congenital pulmonary airway malformation (HP:0010959)

Abnormal fourth ventricle morphology (HP:0010950)

Hypoplastic right heart (HP:0010954)

Noncommunicating hydrocephalus (HP:0010953)

Mild fetal ventriculomegaly (HP:0010952)

Abnormal third ventricle morphology (HP:0010951)

Partial duplication of the proximal phalanx of the 3rd finger (HP:0009970)

Duplication of phalanx of 4th finger (HP:0009972)

Congenital macroorchidism (HP:0008640)

Polydactyly affecting the 4th finger (HP:0009971)

Short stepped shuffling gait (HP:0007311)

Nephroblastomatosis (HP:0008643)

Partial duplication of the phalanges of the 4th finger (HP:0009974)

Complete duplication of the phalanges of the 4th finger (HP:0009973)

Cerebral degeneration (HP:0007313)

Duplication of the middle phalanx of the 4th finger (HP:0009976)

obsolete White matter neuronal heterotopia (HP:0007314)

Duplication of the distal phalanx of the 4th finger (HP:0009975)

Pubertal developmental failure in females (HP:0008647)

Complete duplication of the distal phalanx of the 4th finger (HP:0009978)

obsolete Involuntary writhing movements (HP:0007316)

Duplication of the proximal phalanx of the 4th finger (HP:0009977)

Polydactyly affecting the 3rd finger (HP:0009958)

Abnormality of ductus venosus blood flow (HP:0010947)

Dilatation of the renal pelvis (HP:0010946)

Complete duplication of the phalanges of the 2nd finger (HP:0009957)

Pulsatile tinnitus (HP:0008629)

Fetal pyelectasis (HP:0010945)

Abnormality of the stapes (HP:0008628)

Abnormal renal pelvis morphology (HP:0010944)

Duplication of phalanx of 3rd finger (HP:0009959)

Abnormality of umbilical vein blood flow (HP:0010949)

Abnormal fetal cardiovascular morphology (HP:0010948)

Echogenic fetal bowel (HP:0010943)

Echogenic intracardiac focus (HP:0010942)

Aplasia of the nasal bone (HP:0010941)

Aplasia/Hypoplasia of the nasal bone (HP:0010940)

Partial duplication of the phalanges of the 3rd finger (HP:0009961)

Complete duplication of the phalanges of the 3rd finger (HP:0009960)

Duplication of the middle phalanx of the 3rd finger (HP:0009963)

Oromotor apraxia (HP:0007301)

Ureteral dysgenesis (HP:0008631)

Duplication of the distal phalanx of the 3rd finger (HP:0009962)

Bipolar affective disorder (HP:0007302)

Complete duplication of the distal phalanx of the 3rd finger (HP:0009965)

Agonadism (HP:0008633)

Duplication of the proximal phalanx of the 3rd finger (HP:0009964)

Lobular glomerulopathy (HP:0008636)

Complete duplication of the proximal phalanx of the 3rd finger (HP:0009967)

CNS demyelination (HP:0007305)

Hypertrophy of the urinary bladder (HP:0008635)

Complete duplication of the middle phalanx of the 3rd finger (HP:0009966)

Abnormality of the lower urinary tract (HP:0010936)

Duplication of the proximal phalanx of the 2nd finger (HP:0009947)

Abnormality of the upper urinary tract (HP:0010935)

Adult onset sensorineural hearing impairment (HP:0008615)

Polydactyly affecting the 2nd finger (HP:0009946)

Duplication of the middle phalanx of the 2nd finger (HP:0009949)

Xanthinuria (HP:0010934)

Duplication of the distal phalanx of the 2nd finger (HP:0009948)

Hyperxanthinemia (HP:0010933)

Bilateral sensorineural hearing impairment (HP:0008619)

Abnormal nasal bone morphology (HP:0010939)

Abnormality of the external nose (HP:0010938)

Abnormality of the nasal skeleton (HP:0010937)

Abnormal circulating nucleobase concentration (HP:0010932)

Abnormal blood sodium concentration (HP:0010931)

Abnormal blood monovalent inorganic cation concentration (HP:0010930)

Complete duplication of the distal phalanx of the 2nd finger (HP:0009950)

Complete duplication of the middle phalanx of the 2nd finger (HP:0009952)

Partial duplication of the distal phalanx of the 2nd finger (HP:0009951)

Complete duplication of the proximal phalanx of the 2nd finger (HP:0009954)

Partial duplication of the middle phalanx of the 2nd finger (HP:0009953)

Severe sensorineural hearing impairment (HP:0008625)

Partial duplication of the phalanges of the 2nd finger (HP:0009956)

Partial duplication of the proximal phalanx of the 2nd finger (HP:0009955)

Unilateral external ear deformity (HP:0008605)

Narrow nasal septum (HP:0009936)

Nuclear punctate cataract (HP:0010925)

Aplasia/Hypoplasia of the nasal septum (HP:0009935)

Posterior cortical cataract (HP:0010924)

Progressive conductive hearing impairment (HP:0008607)

Sunken cheeks (HP:0009938)

Anterior subcapsular cataract (HP:0010923)

Supraauricular pit (HP:0008606)

Facial hirsutism (HP:0009937)

Membranous cataract (HP:0010922)

Morphological abnormality of the middle ear (HP:0008609)

Abnormal blood cation concentration (HP:0010929)

Hypertrophic auricular cartilage (HP:0008608)

Mandibular aplasia (HP:0009939)

obsolete Increased urinary orotic acid concentration (HP:0010928)

Abnormal blood inorganic cation concentration (HP:0010927)

Aculeiform cataract (HP:0010926)

Coralliform cataract (HP:0010921)

Zonular cataract (HP:0010920)

Infantile sensorineural hearing impairment (HP:0008610)

Asymmetry of the mouth (HP:0009941)

Asymmetry of the mandible (HP:0009940)

Complete duplication of thumb phalanx (HP:0009943)

Duplication of thumb phalanx (HP:0009942)

Duplication of phalanx of 2nd finger (HP:0009945)

Partial duplication of thumb phalanx (HP:0009944)

Abnormal circulating valine concentration (HP:0010914)

Aplasia/Hypoplasia involving the nose (HP:0009924)

Hyperisoleucinemia (HP:0010913)

Aplasia of the nose (HP:0009927)

Abnormal circulating isoleucine concentration (HP:0010912)

Epiphora (HP:0009926)

Hyperleucinemia (HP:0010911)

Abnormality of the columella (HP:0009929)

Abnormal circulating cysteine concentration (HP:0010918)

Abnormal circulating tyrosine concentration (HP:0010917)

Thick nasal alae (HP:0009928)

Abnormal circulating alanine concentration (HP:0010916)

Abnormal circulating pyruvate family amino acid concentration (HP:0010915)

Hypervalinemia (HP:0010910)

Asymmetry of the nares (HP:0009930)

Abnormal circulating homocysteine concentration (HP:0010919)

Single naris (HP:0009932)

Enlarged naris (HP:0009931)

Supernumerary naris (HP:0009934)

Narrow naris (HP:0009933)

Abnormal circulating glutamine concentration (HP:0010903)

Cyclopia (HP:0009914)

Aplasia/Hypoplasia of the tragus (HP:0009913)

Abnormal circulating glutamine family amino acid concentration (HP:0010902)

Abnormal circulating methionine concentration (HP:0010901)

Anisocoria (HP:0009916)

Abnormal circulating threonine concentration (HP:0010900)

Corneal asymmetry (HP:0009915)

Abnormal circulating proline concentration (HP:0010907)

Ectopia pupillae (HP:0009918)

Persistent pupillary membrane (HP:0009917)

Hyperhistidinemia (HP:0010906)

obsolete Abnormality of histidine metabolism (HP:0010905)

Retinoblastoma (HP:0009919)

Abnormal circulating histidine concentration (HP:0010904)

Abnormal circulating arginine concentration (HP:0010909)

Abnormal circulating lysine concentration (HP:0010908)

Duane anomaly (HP:0009921)

Nevus of Ota (HP:0009920)

Vascular remnant arising from the disc (HP:0009922)

Abnormal tissue metabolite concentration (HP:0032243)

Anti-H2A antibody positivity (HP:0033575)

Decreased serum thromboxane B2 (HP:0032244)

Anti-H3 antibody positivity (HP:0033574)

Abnormal metabolism (HP:0032245)

In situ pulmonary artery thrombosis (HP:0033577)

Anti-H2B antibody positivity (HP:0033576)

Persistent CMV viremia (HP:0032247)

Decreased growth hormone responses to growth hormone-releasing hormone challenge (HP:0033579)

Pre-capillary pulmonary hypertension (HP:0033578)

Persistent viremia (HP:0032248)

Coccidioidomycosis (HP:0032249)

Posterior fossa cyst (HP:0007291)

Compound motor action potential abnormality (HP:0033580)

Anterior sacral meningocele (HP:0007293)

Reflex asystolic syncope (HP:0500173)

Pulmonary interstitial lymphocyte infiltration (HP:0033582)

Acinetobacter infection (HP:0032250)

Chaotic rapid conjugate ocular movements (HP:0007295)

Abnormal immune system morphology (HP:0032251)

Absent peripheral lymph nodes in presence of infection (HP:0033581)

Granuloma (HP:0032252)

Nonspecific interstitial pneumonia (HP:0033584)

Abnormal concentration of acylcarnitine in the urine (HP:0500170)

Eosinophilic granuloma (HP:0032253)

Follicular bronchiolitis (HP:0033583)

Dysfunction of lateral corticospinal tracts (HP:0007299)

Increased circulating copper concentration (HP:0032254)

Cellular non-specific interstitial pneumonia (HP:0033586)

Opportunistic fungal infection (HP:0032255)

Fibrotic non-specific interstitial pneumonia (HP:0033585)

Histoplasmosis (HP:0032256)

Labial adhesion (HP:0033588)

Disseminated histoplasmosis (HP:0032257)

Vulvar abscess (HP:0033587)

Pulmonary histoplasmosis (HP:0032258)

Chronic tinea infection (HP:0032259)

Flatulence (HP:0033589)

Increased level of carnosine in blood (HP:0500161)

Acute infantile spinal muscular atrophy (HP:0007280)

Abnormal circulating carnosine concentration (HP:0500160)

Developmental stagnation (HP:0007281)

Staghorn calculus (HP:0033591)

Hypoornithinemia (HP:0500163)

Opportunistic bacterial infection (HP:0032260)

Inguinal abscess (HP:0033590)

Decreased level of carnosine in blood (HP:0500162)

Nontuberculous mycobacterial pulmonary infection (HP:0032261)

Anti-H2A-H2B antibody positivity (HP:0033593)

Pulmonary tuberculosis (HP:0032262)

Anti-H3-H4 antibody positivity (HP:0033592)

Increased blood pressure (HP:0032263)

Facial palsy secondary to cranial hyperostosis (HP:0007285)

Elevated circulating globotriaosylceramide concentration (HP:0033595)

Horizontal jerk nystagmus (HP:0007286)

Anti-NMDA receptor antibody positivity (HP:0032264)

Elevated urinary 7-biopterin level (HP:0033594)

Limb fasciculations (HP:0007289)

Abnormal blood oxygen level (HP:0500165)

Abnormal blood carbon dioxide level (HP:0500164)

Hypergastrinemia (HP:0500167)

Abnormal circulating gastrin concentration (HP:0500166)

CSF autoimmune antibody positivity (HP:0032265)

Decreased mucosal sucrase-isomaltase activity (HP:0033597)

CSF anti-NMDA receptor antibody positivity (HP:0032266)

Elevated urinary 3-methylcrotonylglycine level (HP:0033596)

Empty delta sign (HP:0032267)

Glomerular amyloid subepithelial deposits (HP:0033599)

Dural tail sign (HP:0032268)

Fibrillar glomerular subepithelial deposits (HP:0033598)

Lemon sign (HP:0032269)

Hypoglutamatemia (HP:0500150)

Atypical absence seizure (HP:0007270)

Optic nerve tram-track sign (HP:0032270)

Hypocystinemia (HP:0500152)

Occipital myelomeningocele (HP:0007271)

Extrapulmonary tuberculosis (HP:0032271)

Hypercystinemia (HP:0500151)

Progressive psychomotor deterioration (HP:0007272)

Elevated urinary N-acetylaspartic acid level (HP:0032272)

Increased circulating N-Acetylaspartic acid concentration (HP:0032273)

Recurrent bacterial meningitis (HP:0007274)

Increased CSF N-acetylaspartic acid concentration (HP:0032274)

Recurrent shingles (HP:0032275)

Abnormal circulating aspartic acid concentration (HP:0500158)

Paucity of anterior horn motor neurons (HP:0007277)

Hypoasparaginemia (HP:0500157)

Increased level of circulating aspartic acid (HP:0500159)

Hypoalaninemia (HP:0500154)

Hyperargininemia (HP:0500153)

Hyperasparaginemia (HP:0500156)

Abnormal circulating asparagine concentration (HP:0500155)

Hypoprolinemia (HP:0500139)

Prominent subcalcaneal fat pad (HP:0032276)

Lozenge-shaped umbilicus (HP:0032277)

2-hydroxyglutarate aciduria (HP:0032278)

Congenital conductive hearing impairment (HP:0008591)

Abnormal base excess (HP:0032281)

Hypophenylalaninemia (HP:0500141)

Type II lissencephaly (HP:0007260)

Contact dermatitis (HP:0032282)

Decreased circulating hydroxyproline concentration (HP:0500140)

Prominent antitragus (HP:0008593)

Disseminated nontuberculous mycobacterial infection (HP:0032283)

Symmetric peripheral demyelination (HP:0007262)

Ultra-low vision with retained motion projection (HP:0032284)

Spinocerebellar atrophy (HP:0007263)

Ultra-low vision with retained light projection (HP:0032285)

Ultra-low vision with retained light perception (HP:0032286)

Clonic seizure (HP:0020221)

Absent mesencephalon (HP:0007265)

Hypoglutaminemia (HP:0500147)

Cerebral dysmyelination (HP:0007266)

Postlingual sensorineural hearing impairment (HP:0008596)

Focal atonic seizure (HP:0020220)

Chronic axonal neuropathy (HP:0007267)

Hyperglutamatemia (HP:0500149)

Aprosencephaly (HP:0007268)

Mild conductive hearing impairment (HP:0008598)

Abnormal circulating glutamate concentration (HP:0500148)

Spinal muscular atrophy (HP:0007269)

Hypoleucinemia (HP:0500143)

Hypolysinemia (HP:0500142)

Hypohistidinemia (HP:0500145)

Hypoisoleucinemia (HP:0500144)

Abnormal circulating glycine concentration (HP:0010895)

Ultra-low vision with no light perception (HP:0032287)

Abnormal circulating serine family amino acid concentration (HP:0010894)

Polyclonal elevation of circulating IgG (HP:0032288)

Abnormal circulating phenylalanine concentration (HP:0010893)

Oligoclonal elevation of circulating IgG (HP:0032289)

Abnormal circulating branched chain amino acid concentration (HP:0010892)

Abnormal circulating aspartate family amino acid concentration (HP:0010899)

Abnormal circulating sarcosine concentration (HP:0010898)

Hypersarcosinuria (HP:0010897)

Hypersarcosinemia (HP:0010896)

Focal aware atonic seizure (HP:0020218)

Monoclonal elevation of IgG (HP:0032290)

Focal aware motor seizure (HP:0020217)

Monoclonal elevation of intact IgG (HP:0032291)

Monoclonal elevation of IgG light chain (HP:0032292)

Motor seizure (HP:0020219)

Monoclonal elevation of IgG heavy chain (HP:0032293)

Recurrent external ophthalmoplegia (HP:0007250)

Monoclonal elevation of IgG kappa chain (HP:0032294)

Monoclonal elevation of IgG lambda chain (HP:0032295)

Increased circulating IgG subclass (HP:0032296)

Underfolded superior helices (HP:0008583)

Increased circulating IgG3 level (HP:0032297)

Hypoplasia of the cochlea (HP:0008586)

Praxis-induced seizure (HP:0020210)

Abnormal pyramidal sign (HP:0007256)

Slit-like opening of the exterior auditory meatus (HP:0008588)

Reading-induced seizure (HP:0020212)

Mild neurosensory hearing impairment (HP:0008587)

Proprioceptive-induced seizure (HP:0020211)

Severe demyelination of the white matter (HP:0007258)

Startle-induced seizure (HP:0020214)

Hypoplastic helices (HP:0008589)

Somatosensory-induced seizure (HP:0020213)

Visually-induced seizure (HP:0020216)

Thinking-induced seizure (HP:0020215)

Morbus Kienboeck (HP:0010889)

Acromelia (HP:0010884)

Increased circulating IgG1 level (HP:0032298)

Aortic valve atresia (HP:0010883)

Increased circulating IgG2 level (HP:0032299)

Pulmonary valve atresia (HP:0010882)

Abnormality of the umbilical cord (HP:0010881)

Morbus Koehler (HP:0010888)

Osteochondritis dissecans (HP:0010886)

Avascular necrosis (HP:0010885)

Reflex seizure (HP:0020207)

Simple ear (HP:0020206)

Hot water-induced seizure (HP:0020209)

Eating-induced seizure (HP:0020208)

Morbus Scheuermann (HP:0010891)

Progressive gait ataxia (HP:0007240)

Morbus Osgood-Schlatter (HP:0010890)

Low-frequency sensorineural hearing impairment (HP:0008573)

External ear malformation (HP:0008572)

Underfolded helix (HP:0008577)

Abnormal sarcomere morphology (HP:0020201)

Increased circulating 18-hydroxycortisone level (HP:0020200)

Z-band streaming (HP:0020203)

Abnormal Z disc morphology (HP:0020202)

Decreased number of small peripheral myelinated nerve fibers (HP:0007249)

Tubulointerstitial fungal infiltration (HP:0020205)

Tubulointerstitial bacterial infiltration (HP:0020204)

Intracerebral periventricular calcifications (HP:0007229)

Postnatal cystic hygroma (HP:0010879)

Fetal cystic hygroma (HP:0010878)

Cervical spinal cord atrophy (HP:0010873)

T-wave inversion (HP:0010872)

Sensory ataxia (HP:0010871)

Monocular strabismus (HP:0010877)

Abnormal circulating protein concentration (HP:0010876)

Chaddock reflex (HP:0010875)

Tendon xanthomatosis (HP:0010874)

Decreased CSF isoleucine concentration (HP:0500194)

Increased CSF isoleucine concentration (HP:0500193)

Abnormal CSF glutamine concentration (HP:0500196)

Abnormal CSF glutamine family amino acid concentration (HP:0500195)

Underdeveloped supraorbital ridges (HP:0009891)

Increased nuchal translucency (HP:0010880)

Decreased CSF leucine concentration (HP:0500190)

High anterior hairline (HP:0009890)

Decreased distal sensory nerve action potential (HP:0007230)

Telangiectasia of the ear (HP:0009893)

Abnormal CSF isoleucine concentration (HP:0500192)

Anotia (HP:0009892)

Increased CSF leucine concentration (HP:0500191)

Spinocerebellar tract disease in lower limbs (HP:0007232)

Abnormality of the crus of the helix (HP:0009895)

Clusters of axonal regeneration (HP:0007233)

Thickened ears (HP:0009894)

Horizontal crus of helix (HP:0009897)

Abnormal antitragus morphology (HP:0009896)

Recurrent subcortical infarcts (HP:0007236)

Vestibular areflexia (HP:0008568)

Prominent crus of helix (HP:0009899)

Decreased CSF glutamine concentration (HP:0500198)

Underdeveloped crus of the helix (HP:0009898)

Increased CSF glutamine concentration (HP:0500197)

Nonarteriosclerotic cerebral calcification (HP:0007238)

Congenital encephalopathy (HP:0007239)

Microtia, second degree (HP:0008569)

Abnormal CSF glutamate concentration (HP:0500199)

Asynergia (HP:0010869)

Ocular dyssynergia (HP:0010868)

Dyssynergia (HP:0010867)

Delayed fine motor development (HP:0010862)

Incomplete breech presentation (HP:0010861)

Complete breech presentation (HP:0010860)

Abdominal wall defect (HP:0010866)

Oppositional defiant disorder (HP:0010865)

Intellectual disability, severe (HP:0010864)

Receptive language delay (HP:0010863)

Abnormal CSF carboxylic acid concentration (HP:0500183)

Hypotaurinemia (HP:0500182)

Abnormal CSF branched chain amino acid concentration (HP:0500185)

Abnormal CSF amino acid concentration (HP:0500184)

Broad distal phalanges of all fingers (HP:0009880)

Short distal phalanx of finger (HP:0009882)

Microtia (HP:0008551)

Hypertaurinemia (HP:0500181)

Demyelinating motor neuropathy (HP:0007220)

Aplasia of the distal phalanges of the hand (HP:0009881)

Abnormal circulating amino sulfonic acid concentration (HP:0500180)

Tapered distal phalanges of finger (HP:0009884)

Progressive truncal ataxia (HP:0007221)

Duplication of the distal phalanx of hand (HP:0009883)

Absent vestibular function (HP:0008555)

Trichorrhexis nodosa (HP:0009886)

Cochlear malformation (HP:0008554)

obsolete Prenatal short stature (HP:0009885)

Abnormality of secondary sexual hair (HP:0009888)

Increased CSF valine concentration (HP:0500187)

Abnormality of hair pigmentation (HP:0009887)

Abnormal CSF valine concentration (HP:0500186)

Macrogyria (HP:0007227)

Hypoplastic superior helix (HP:0008559)

Abnormal CSF leucine concentration (HP:0500189)

Localized hirsutism (HP:0009889)

Decreased CSF valine concentration (HP:0500188)

Increased esterified to free carnitine ratio (HP:0033506)

Livedo reticularis (HP:0033505)

EBV meningitis (HP:0033508)

Decreased esterified to free carnitine ratio (HP:0033507)

EBV encephalitis (HP:0033509)

Subendothelial glomerular basement membrane electron dense deposits (HP:0033500)

Abnormal esterified to free carnitine ratio (HP:0033502)

Subepithelial glomerular basement membrane electron dense deposits (HP:0033501)

Elevated circulating fumarate concentration (HP:0033504)

Elevated CSF fumarate (HP:0033503)

Heroin addiction (HP:0033517)

Benzodiazepine addiction (HP:0033516)

Methamphetamine addiction (HP:0033519)

Methylphenidate addiction (HP:0033518)

Drug addiction (HP:0033511)

Cutaneous horn (HP:0033510)

Cocaine addiction (HP:0033513)

Stimulant addiction (HP:0033512)

Opioid addiction (HP:0033515)

Amphetamine addiction (HP:0033514)

Abnormal cardiac output (HP:0033528)

Decreased gonadotropin-stimulated testosterone-to-androstenedione ratio (HP:0033527)

Abnormal cardiac index (HP:0033529)

Paradoxical embolism (HP:0033520)

Cerebral cavernous malformation (HP:0033522)

Nasal dryness (HP:0033521)

Abnormal sperm axoneme morphology (HP:0033524)

Abnormal sperm principal piece morphology (HP:0033523)

Limited ankle dorsiflexion (HP:0033526)

Absent sperm axoneme central pair complex (HP:0033525)

obsolete Abnormal cerebrospinal fluid metabolite concentration (HP:0032207)

Bilateral apical pulmonary fibrosis (HP:0033539)

Increased urinary type 1 collagen N-terminal telopeptide level (HP:0032208)

Aortic annulus calcification (HP:0033538)

Abnormal circulating free T3 level (HP:0032209)

Decreased cardiac index (HP:0033531)

Perivascular fibrosis (HP:0032200)

Increased cardiac index (HP:0033530)

Rotator cuff tear (HP:0032201)

Increased cardiac output (HP:0033533)

Vulvar intraepithelial neoplasia (HP:0032202)

Decreased cardiac output (HP:0033532)

Lymphoid nodular hyperplasia (HP:0032203)

Reduced platelet dense granules (HP:0033535)

Chronic active Epstein-Barr virus infection (HP:0032204)

Increased circulating brain natriuretic peptide concentration (HP:0033534)

Increased circulating galectin-3 level (HP:0032205)

Mosaic pulmonary attenuation pattern (HP:0033537)

Reduced platelet alpha granules (HP:0033536)

Reversible airflow obstruction (HP:0033540)

Hypothreoninemia (HP:0500136)

Hypotryptophanemia (HP:0500135)

Hyperserinemia (HP:0500138)

Hypovalinemia (HP:0500132)

Hypertryptophanemia (HP:0500134)

Hypotyrosinemia (HP:0500133)

Decreased proportion of CD4-positive T cells (HP:0032218)

Increased proportion of CD4-positive T cells (HP:0032219)

Nodular mesangiosclerosis (HP:0033549)

Abnormal CSF urate concentration (HP:0500117)

Decreased circulating free T3 (HP:0032210)

Bronchial wall thickening (HP:0033542)

Increased urinary epithelial cell count (HP:0032211)

Irreversible airflow obstruction (HP:0033541)

Increased urinary squamous epithelial cell count (HP:0032212)

Mesangial fibril deposition (HP:0033544)

Increased urinary renal tubular epithelial cell count (HP:0032213)

Nicotine addiction (HP:0033543)

Increased urinary transitional epithelial cell count (HP:0032214)

Mesangial microfibril deposition (HP:0033546)

Disseminated cutaneous warts (HP:0032215)

Mesangial fibrillary deposits (HP:0033545)

Lymphocytic infiltration of the colorectal mucosa (HP:0032216)

Mesangial amyloid deposition (HP:0033548)

Indurated nodule (HP:0032217)

Mesangial immunotactoid deposits (HP:0033547)

Non-necrotizing pulmonary granulomatosis (HP:0033551)

Interface hepatitis (HP:0032220)

Necrotizing pulmonary granulomatosis (HP:0033550)

Perinuclear antineutrophil antibody positivity (HP:0032229)

Isolated diastolic hypotension (HP:0500107)

Isolated systolic hypertension (HP:0500106)

Positive urine barbiturate test (HP:0500109)

Positive urine cocaine test (HP:0500108)

Periportal emperipolesis (HP:0032221)

Septic embolism (HP:0033553)

Serrated intestinal polyps (HP:0032222)

Chronic villitis (HP:0033552)

Blood group (HP:0032223)

Anti-Ro/SS-A antibody positivity (HP:0033555)

ABO blood group (HP:0032224)

Anti-Mi2 antibody positivity (HP:0033554)

Perifollicular fibroma (HP:0032225)

Anti-proteinase 3 antibody positivity (HP:0033557)

Abnormal sebaceous gland morphology (HP:0032226)

Anti-nucleoporin 62 antibody positivity (HP:0033556)

Sebaceous hyperplasia (HP:0032227)

Anti-myeloperoxidase antibody positivity (HP:0033559)

Trichodiscoma (HP:0032228)

Anti-histone antibody positivity (HP:0033558)

Anti-PM-Scl antibody positivity (HP:0033560)

Cytoplasmic antineutrophil antibody positivity (HP:0032230)

Anti-glycoprotein-210 antibody positivity (HP:0033562)

Hypochromia (HP:0032231)

Anti-bactericidal/permeability-increasing protein antibody positivity (HP:0033561)

Abnormal stool urobilinogen concentration (HP:0500114)

Positive urine opioid test (HP:0500113)

Positive blood barbiturate test (HP:0500116)

Increased stool urobilinogen concentration (HP:0500115)

Positive urine cannabinoid test (HP:0500110)

Positive urine amphetamine test (HP:0500112)

Positive urine benzodiazepines test (HP:0500111)

Increased circulating creatine kinase MB isoform (HP:0032232)

Stasis dermatitis (HP:0033564)

Increased circulating creatine kinase BB isoform (HP:0032233)

Anti-tissue transglutaminase antibody positivity (HP:0033563)

Increased circulating creatine kinase MM isoform (HP:0032234)

Abnormal ventricular axis (HP:0033566)

Anti-La/SS-B antibody positivity (HP:0032235)

Anti-epidermal transglutaminase antibody positivity (HP:0033565)

Increased circulating immature neutrophil count (HP:0032236)

Left axis deviation (HP:0033568)

Increased circulating myelocyte count (HP:0032237)

Right axis deviation (HP:0033567)

Increased circulating metamyelocyte count (HP:0032238)

Increased circulating band cell count (HP:0032239)

Extreme axis deviation (HP:0033569)

Peripheral lung neovascularity (HP:0033571)

Elevated circulating E selectin level (HP:0032240)

Indeterminate ventricular axis (HP:0033570)

Cervical neoplasm (HP:0032241)

Anti-H4 antibody positivity (HP:0033573)

Cervical intraepithelial neoplasia (HP:0032242)

Anti-H1 antibody positivity (HP:0033572)

Decreased systolic blood pressure (HP:0500105)

Decreased diastolic blood pressure (HP:0500104)

Gastric fluid xenobiotic (HP:0500101)

Plasma/serum xenobiotic (HP:0500100)

Absent internal genitalia (HP:0008702)

Elevated urinary homogentisic acid (HP:0033704)

Dysembryoplastic neuroepithelial tumor (HP:0033703)

Progressive massive fibrosis (HP:0033706)

Tearfulness (HP:0033705)

Anti-3-hydroxy- 3-methylglutaryl-coA reductase antibody positivity (HP:0033708)

Perioral hyperkeratosis (HP:0033707)

Increased sputum production (HP:0033709)

Papulovesicular eruption (HP:0033700)

Subpleural curvilinear line (HP:0033702)

Cortical sclerosis of the iliac wing (HP:0033701)

Hippocampal sclerosis (HP:0033715)

Multiple meningiomata (HP:0033714)

EEG with temporal epileptiform discharges (HP:0033717)

EEG with frontal epileptiform discharges (HP:0033716)

EEG with parietal epileptiform discharges (HP:0033719)

EEG with central epileptiform discharges (HP:0033718)

Pulmonary interstitial thickening (HP:0033711)

Rest dyspnea (HP:0033710)

Anti-signal recognition particle antibody positivity (HP:0033713)

Repeated implantation failure (HP:0033712)

Lupus nephritis (HP:0033726)

Thin corpus callosum (HP:0033725)

Mesangial proliferative lupus nephritis (HP:0033728)

Diffuse lupus nephritis (HP:0033727)

Minimal mesangial lupus nephritis (HP:0033729)

EEG with occipital epileptiform discharges (HP:0033720)

Autonomic epileptic aura (HP:0033722)

EEG with centrotemporal epileptiform discharges (HP:0033721)

Cerebral venous sinus thrombosis (HP:0033724)

Abnormal cerebral venous sinus morphology (HP:0033723)

Shortening of all distal phalanges of the fingers (HP:0006118)

Confetti-like hypopigmented macules (HP:0007449)

Proximal tapering of metacarpals (HP:0006119)

Congenital bilateral hip dislocation (HP:0008780)

Increased groin pigmentation with raindrop depigmentation (HP:0007450)

Ipsilateral lack of facial sweating (HP:0007451)

Acral ulceration (HP:0006121)

Midface capillary hemangioma (HP:0007452)

Wide capital femoral epiphyses (HP:0008784)

Flexural lichenification (HP:0007453)

Wide proximal femoral metaphysis (HP:0008783)

Iliac crest serration (HP:0008786)

Adermatoglyphia (HP:0007455)

Delayed ossification of pubic rami (HP:0008785)

Progressive reticulate hyperpigmentation (HP:0007456)

Delayed pubic bone ossification (HP:0008788)

Prominent veins on trunk (HP:0007457)

Long proximal phalanx of finger (HP:0006127)

Focal hyperextensible skin (HP:0007458)

Generalized anhidrosis (HP:0007459)

Cone-shaped capital femoral epiphysis (HP:0008789)

Fingerpad telangiectases (HP:0006107)

Mottled pigmentation of the trunk and proximal extremities (HP:0007438)

Tapered metacarpals (HP:0006108)

Generalized keratosis follicularis (HP:0007439)

Absent phalangeal crease (HP:0006109)

Aplasia/Hypoplasia of the ear (HP:0008771)

Generalized hyperpigmentation (HP:0007440)

Obsessive-compulsive trait (HP:0008770)

Shortening of all middle phalanges of the fingers (HP:0006110)

Hyperpigmented/hypopigmented macules (HP:0007441)

Aplasia/Hypoplasia of the middle ear (HP:0008773)

Aplasia/Hypoplasia of the external ear (HP:0008772)

Abnormal prostate morphology (HP:0008775)

Expanded phalanges with widened medullary cavities (HP:0006112)

Partial albinism (HP:0007443)

Aplasia/Hypoplasia of the inner ear (HP:0008774)

Multiple palmar creases (HP:0006114)

Abnormal vocal cord morphology (HP:0008777)

Abnormal renal artery morphology (HP:0008776)

Palmoplantar blistering (HP:0007446)

Diffuse palmoplantar hyperkeratosis (HP:0007447)

Hyperkeratosis over edematous areas (HP:0007448)

Reticulated skin pigmentation (HP:0007427)

Telangiectasia of the oral mucosa (HP:0007428)

Few cafe-au-lait spots (HP:0007429)

Violent behavior (HP:0008760)

Generalized edema (HP:0007430)

Repetitive compulsive behavior (HP:0008762)

Congenital ichthyosiform erythroderma (HP:0007431)

Finger syndactyly (HP:0006101)

Intermittent generalized erythematous papular rash (HP:0007432)

No social interaction (HP:0008763)

Plaque-like facial hemangioma (HP:0007434)

obsolete Diffuse palmoplantar keratoderma (HP:0007435)

Auditory hallucinations (HP:0008765)

Hair-nail ectodermal dysplasia (HP:0007436)

Inappropriate sexual behavior (HP:0008768)

Absent trapezoid bone (HP:0006106)

Multiple cutaneous leiomyomas (HP:0007437)

Self-mutilation of tongue and lips due to involuntary movements (HP:0008767)

Discoid lupus rash (HP:0007417)

Cartilaginous ossification of larynx (HP:0008747)

Alopecia totalis (HP:0007418)

Laryngeal hypoplasia (HP:0008749)

Laryngeal cleft (HP:0008751)

Spontaneous hematomas (HP:0007420)

Laryngeal atresia (HP:0008750)

Telangiectases of the cheeks (HP:0007421)

Aplasia of the epiglottis (HP:0008753)

Laryngeal cartilage malformation (HP:0008752)

Laryngotracheomalacia (HP:0008755)

Laryngeal calcification (HP:0008754)

Hyperextensible skin of face (HP:0007425)

Unilateral vocal cord paralysis (HP:0008757)

Bowing of the vocal cords (HP:0008756)

Hypoplasia of penis (HP:0008736)

Hyperpigmentation of eyelids (HP:0007406)

Excessive skin wrinkling on dorsum of hands and fingers (HP:0007407)

Labial pseudohypertrophy (HP:0008739)

Tegumentary leishmaniasis susceptibility (HP:0007408)

Partially duplicated kidney (HP:0008738)

obsolete Absence of subcutaneous fat over entire body except buttocks, hips, and thighs (HP:0007409)

Longitudinal vaginal septum (HP:0008740)

Palmoplantar hyperhidrosis (HP:0007410)

Prominent prostate median bar (HP:0008742)

Hypoplastic-absent sebaceous glands (HP:0007411)

Macular hyperpigmented dermopathy (HP:0007412)

Abnormal aryepiglottic fold morphology (HP:0008744)

Nevus flammeus of the forehead (HP:0007413)

Coronal hypospadias (HP:0008743)

Neonatal wrinkled skin of hands and feet (HP:0007414)

Hypoplasia of the vagina (HP:0008726)

Absence of labia majora (HP:0008729)

Irregular hyperpigmentation (HP:0007400)

Female external genitalia in individual with 46,XY karyotype (HP:0008730)

Macular atrophy (HP:0007401)

Dysplastic testes (HP:0008733)

Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines (HP:0007402)

Renal hypophosphatemia (HP:0008732)

Hypertrophy of skin of soles (HP:0007403)

Nonepidermolytic palmoplantar hyperkeratosis (HP:0007404)

Decreased testicular size (HP:0008734)

Testicular dysgenesis (HP:0008715)

Ureterovesical stenosis (HP:0008714)

Unilateral renal atrophy (HP:0008717)

Urethrovaginal fistula (HP:0008716)

Unilateral renal dysplasia (HP:0008718)

Primary testicular failure (HP:0008720)

Urethral diverticulum (HP:0008722)

Hypoplasia of the ovary (HP:0008724)

Gonadal dysgenesis with female appearance, male (HP:0008723)

Gonadal calcification (HP:0008703)

Distal urethral duplication (HP:0008706)

Ureteral triplication (HP:0008705)

Partial development of the penile shaft (HP:0008708)

Absent scrotum (HP:0008707)

Benign prostatic hyperplasia (HP:0008711)

Impaired urinary acidification (HP:0031033)

obsolete Abnormal CSF amino acid level (HP:0032364)

Pseudo-chilblain (HP:0033696)

Abnormal insulin like growth factor binding protein acid labile subunit level (HP:0031034)

Exacerbated by aspirin ingestion (HP:0032365)

Occupational disability (HP:0033695)

Chronic infection (HP:0031035)

Positive direct antiglobulin test (HP:0032366)

Monomorphic vesicular eruption (HP:0033698)

Abnormal growth hormone level (HP:0032367)

Reduced growth-hormone binding protein level (HP:0031036)

Vesicular eruption (HP:0033697)

Acidemia (HP:0032368)

Reduced insulin-like factor 3 level (HP:0031037)

Spermatogenesis maturation arrest (HP:0031038)

Alkalemia (HP:0032369)

Polymorphic vesicular eruption (HP:0033699)

Early spermatogenesis maturation arrest (HP:0031039)

Blood group A (HP:0032370)

Late spermatogenesis maturation arrest (HP:0031040)

Isoleucinuria (HP:0032371)

Obstruction of the superior vena cava (HP:0031041)

Increased peripheral blast count (HP:0032372)

Thin metacarpal cortices (HP:0006086)

Strawberry tongue (HP:0031042)

Duffy blood group (HP:0032373)

Type A4 brachydactyly (HP:0031043)

Duffy Fya positivity (HP:0032374)

1-5 finger complete cutaneous syndactyly (HP:0006088)

Palmar hyperhidrosis (HP:0006089)

Type A5 brachydactyly (HP:0031044)

Duffy Fyb positivity (HP:0032375)

Acral blistering (HP:0031045)

Anti-beta 2 glycoprotein I antibody positivity (HP:0032376)

Absent soft palate (HP:0031046)

Increased urinary orosomucoid (HP:0032377)

Paraproteinemia (HP:0031047)

Immediate-type hypersensitivity drug reaction (HP:0032378)

Light-chain paraproteinemia (HP:0031048)

Polymorphous light eruption (HP:0032379)

Heavy-chain paraproteinemia (HP:0031049)

Metacarpophalangeal joint contracture (HP:0006070)

Whole-immunoglobulin paraproteinemia (HP:0031050)

Hydroa vacciniforme (HP:0032381)

Tarsal sclerosis (HP:0031051)

Uniparental disomy (HP:0032382)

Elevated vascular endothelial growth factor level (HP:0031052)

Uniparental heterodisomy (HP:0032383)

Coarctation in the transverse aortic arch (HP:0031053)

Uniparental isodisomy (HP:0032384)

Abnormal circulating transferrin concentration (HP:0032385)

Long segment coarctation of the aorta (HP:0031054)

Absent proximal finger flexion creases (HP:0006077)

Abnormal branching pattern of left aortic arch (HP:0031055)

Elevated circulating transferrin concentration (HP:0032386)

Fusiform cerebral aneurysm (HP:0031056)

Reduced circulating transferrin concentration (HP:0032387)

Skin fissure (HP:0031057)

Periventricular nodular heterotopia (HP:0032388)

Impairment of activities of daily living (HP:0031058)

Periventricular laminar heterotopia (HP:0032389)

Impaired ability to bathe oneself (HP:0031059)

Decreased proportion of gamma-delta T cells (HP:0500271)

Hyperkeratosis with erythema (HP:0007390)

Periventricular ribbonlike heterotopia (HP:0032390)

Increased proportion of gamma-delta T cells (HP:0500270)

Tombstone-shaped proximal phalanges (HP:0006060)

Impaired ability to dress oneself (HP:0031060)

Subcortical heterotopia (HP:0032391)

Increased proportion of immature gamma-delta T cells (HP:0500273)

Excessive wrinkled skin (HP:0007392)

Impaired toileting ability (HP:0031061)

Nodular subcortical heterotopia in peritrigonal regions (HP:0032392)

Abnormal proportion of immature gamma-delta T cells (HP:0500272)

Impaired transferring ability (HP:0031062)

Diffuse ribbon-like subcortical heterotopia (HP:0032393)

Prominent superficial blood vessels (HP:0007394)

Impaired feeding ability (HP:0031063)

Mesial parasagittal subcortical heterotopia (HP:0032394)

Impaired continence (HP:0031064)

Limited interphalangeal movement (HP:0006064)

Postnatal-onset ichthyosiform erythroderma (HP:0007395)

Curvilinear subcortical heterotopia (HP:0032395)

Abnormal ovarian morphology (HP:0031065)

Early cutaneous photosensitivity (HP:0007396)

Transmantle columnar heterotopia (HP:0032396)

Axillary apocrine gland hypoplasia (HP:0007397)

Multiple carpal ossification centers (HP:0006067)

Asymmetric, linear skin defects (HP:0007398)

obsolete Severe carpal ossification delay (HP:0006069)

Decreased proportion of immature gamma-delta T cells (HP:0500274)

Abnormal ovarian physiology (HP:0031066)

Citrullinuria (HP:0032397)

Empty ovarian follicle (HP:0031067)

Dysgyria (HP:0032398)

Increased femoral torsion (HP:0031068)

Dysgyria with normal cortical thickness (HP:0032399)

Abnormal femoral torsion (HP:0031069)

Triggered by head trauma (HP:0500260)

Decreased femoral torsion (HP:0031070)

Facial telangiectasia (HP:0007380)

Abnormal endocrine morphology (HP:0031071)

Atrichia (HP:0500262)

Congenital exfoliative erythroderma (HP:0007381)

Abnormal endocrine physiology (HP:0031072)

Triggered by anesthetics (HP:0500261)

Metacarpal periosteal thickening (HP:0006051)

Abnormal response to endocrine stimulation test (HP:0031073)

Congenital localized absence of skin (HP:0007383)

Abnormal response to ACTH stimulation test (HP:0031074)

Aberrant melanosome maturation (HP:0007384)

Abnormal response to insulin tolerance test (HP:0031075)

Aplasia cutis congenita of scalp (HP:0007385)

Impaired cortisol response to insulin stimulation test (HP:0031076)

Ulnar deviated club hands (HP:0006055)

Abnormal proportion of CD4-positive helper T cells (HP:0500267)

Hypoplastic sweat glands (HP:0007387)

Abnormal proportion of gamma-delta T cells (HP:0500269)

Cone-shaped metacarpal epiphyses (HP:0006059)

Increased helper T cell proportion (HP:0500264)

Abnormal helper T cell proportion (HP:0500263)

Decreased proportion of CD8-positive, alpha-beta TEMRA T cells (HP:0500266)

Increased proportion of CD8-positive, alpha-beta TEMRA T cells (HP:0500265)

Abnormal response to corticotropin releasing hormone stimulation test (HP:0031077)

Impaired cortisol response to corticotropin releasing hormone stimulation test (HP:0031078)

Impaired growth-hormone response to insulin stimulation test (HP:0031079)

Abnormal response to glucagon stimulation test (HP:0031080)

Impaired cortisol response to glucagon stimulation test (HP:0031081)

Impaired growth-hormone response to glucagon stimulation test (HP:0031082)

Aplasia/Hypoplasia of the corpus callosum (HP:0007370)

Abnormal response to human chorionic gonadotrophin stimulation test (HP:0031083)

Long second metacarpal (HP:0006040)

Corpus callosum atrophy (HP:0007371)

Excessive insulin response to glucagon test (HP:0031084)

Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)

Decreased prealbumin level (HP:0031085)

Motor neuron atrophy (HP:0007373)

Y-shaped metacarpals (HP:0006042)

Ectopic ovary (HP:0031086)

Atrophy/Degeneration involving the caudate nucleus (HP:0007374)

Absent pubertal growth spurt (HP:0031087)

Abnormality of the septum pellucidum (HP:0007375)

Abnormal choroid plexus morphology (HP:0007376)

Short pointed phalanges (HP:0006045)

Abnormality of somatosensory evoked potentials (HP:0007377)

Neoplasm of the gastrointestinal tract (HP:0007378)

Distal widening of metacarpals (HP:0006048)

Neoplasm of the genitourinary tract (HP:0007379)

Vaginal dryness (HP:0031088)

Palatal edema (HP:0031089)

Toe dactylitis (HP:0031091)

Spindle-shaped finger (HP:0031092)

Abnormal breast morphology (HP:0031093)

Abnormal breast physiology (HP:0031094)

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Abnormal humerus morphology (HP:0031095)

Abnormal pons morphology (HP:0007361)

Solitary bladder diverticulum (HP:0008691)

Delayed vertebral ossification (HP:0031096)

Aplasia/Hypoplasia of the brainstem (HP:0007362)

Abnormal thyroid-stimulating hormone level (HP:0031097)

obsolete Hypertrophic labia minora (HP:0008694)

Aplasia/Hypoplasia of the pyramidal tract (HP:0007363)

Decreased thyroid-stimulating hormone level (HP:0031098)

Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Renal hamartoma (HP:0008696)

Aplasia/Hypoplasia involving the corticospinal tracts (HP:0007365)

Transient nephrotic syndrome (HP:0008695)

Cone-shaped epiphyses of phalanges 2 to 5 (HP:0006035)

Atrophy/Degeneration affecting the brainstem (HP:0007366)

Atrophy/Degeneration affecting the central nervous system (HP:0007367)

Hypoplasia of the fallopian tube (HP:0008697)

Atrophy/Degeneration affecting the cerebrum (HP:0007369)

Finger dactylitis (HP:0031090)

Reduced proximal interphalangeal joint space (HP:0006019)

Aplasia of the optic tract (HP:0010999)

Abnormal corpus striatum morphology (HP:0010994)

Abnormal circulating inhibin level (HP:0031099)

Abnormality of the cerebral subcortex (HP:0010993)

Stress urinary incontinence (HP:0010992)

Abnormal morphology of the abdominal musculature (HP:0010991)

Increased susceptibility to spontaneous sister chromatid exchange (HP:0010998)

Chromosomal breakage induced by ionizing radiation (HP:0010997)

Abnormal circulating monocarboxylic acid cocentration (HP:0010996)

Abnormal circulating dicarboxylic acid concentration (HP:0010995)

Hyperreflexia in upper limbs (HP:0007350)

Upper limb postural tremor (HP:0007351)

Enlarged labia minora (HP:0008683)

Cerebellar calcifications (HP:0007352)

Renal tubular epithelial necrosis (HP:0008682)

Aplasia/hypoplasia of the uterus (HP:0008684)

Amyotrophic lateral sclerosis (HP:0007354)

Hypoplasia of the prostate (HP:0008687)

Rounded epiphyses (HP:0006026)

Bilateral cryptorchidism (HP:0008689)

Focal-onset seizure (HP:0007359)

Metaphyseal cupping of metacarpals (HP:0006028)

Unilateral brachydactyly (HP:0006008)

Broad phalanx (HP:0006009)

Abnormality of the intrinsic pathway (HP:0010989)

Abnormality of the extrinsic pathway (HP:0010988)

Oligogenic inheritance (HP:0010983)

Polygenic inheritance (HP:0010982)

Hypolipoproteinemia (HP:0010981)

Hyperlipoproteinemia (HP:0010980)

Abnormal cellular immune system morphology (HP:0010987)

Gonosomal inheritance (HP:0010985)

Digenic inheritance (HP:0010984)

Abnormality of the common coagulation pathway (HP:0010990)

Partial vaginal septum (HP:0008670)

Lower limb muscle weakness (HP:0007340)

Calcium oxalate nephrolithiasis (HP:0008672)

Diffuse swelling of cerebral white matter (HP:0007341)

Cuboidal metacarpal (HP:0006011)

Widened metacarpal shaft (HP:0006012)

Abnormal morphology of the limbic system (HP:0007343)

Atrophy/Degeneration involving the spinal cord (HP:0007344)

Congenital megaureter (HP:0008676)

Abnormally shaped carpal bones (HP:0006014)

Enlarged polycystic ovaries (HP:0008675)

Renal hypoplasia/aplasia (HP:0008678)

Subcortical white matter calcifications (HP:0007346)

Delayed phalangeal epiphyseal ossification (HP:0006016)

Congenital nephrotic syndrome (HP:0008677)

Hypoplasia of the pyramidal tract (HP:0007348)

Accessory cardiac bronchus (HP:0033616)

Displaced tracheal bronchus (HP:0033615)

Abnormal CSF methionine concentration (HP:0500209)

Displaced lobar tracheal bronchus (HP:0033618)

Supernumerary tracheal bronchus (HP:0033617)

Abnormal CSF lysine concentration (HP:0500206)

Typical perifissural nodule (HP:0033619)

Abnormal CSF aspartate family amino acid concentration (HP:0500205)

Increased CSF lysine concentration (HP:0500208)

Decreased CSF lysine concentration (HP:0500207)

Subsolid pulmonary nodule (HP:0033610)

Pure ground-glass pulmonary nodule (HP:0033612)

Part-solid pulmonary nodule (HP:0033611)

Tracheal bronchus (HP:0033614)

Perifissural pulmonary nodule (HP:0033613)

Decreased CSF threonine concentration (HP:0500213)

Increased CSF threonine concentration (HP:0500212)

Abnormal CSF phenylalanine concentration (HP:0500215)

Abnormal CSF aromatic amino acid concentration (HP:0500214)

Abnormal CSF threonine concentration (HP:0500211)

Increased CSF methionine concentration (HP:0500210)

Increased urine harderoporphyrin level (HP:0033627)

Increased non-HDL cholesterol concentration (HP:0033626)

IgG4 autoimmune antibody positivity (HP:0033629)

Bowel irritability (HP:0033628)

Bronchial diverticula (HP:0033621)

Atypical perifissural nodule (HP:0033620)

Birth history (HP:0033623)

Migratory erythematous plaque (HP:0033622)

Emotional insecurity (HP:0033625)

History of congenital CMV infection (HP:0033624)

Abnormal CSF arginine concentration (HP:0500202)

Decreased CSF glutamate concentration (HP:0500201)

Decreased CSF arginine concentration (HP:0500204)

Increased CSF arginine concentration (HP:0500203)

Increased CSF glutamate concentration (HP:0500200)

Increased mannose-binding protein level (HP:0032306)

Intralobular septal thickening (HP:0033638)

Anti-endomysial antibody positivity (HP:0033637)

Increased circulating procalcitonin concentration (HP:0032308)

Abnormal granulocyte count (HP:0032309)

Septic pulmonary embolism (HP:0033639)

Brain fog (HP:0033630)

Increased circulating IgG4 level (HP:0032300)

Abnormal alveolar volume (HP:0033632)

Genital warts (HP:0032301)

Spondylitis (HP:0033631)

Kappa Bence Jones proteinuria (HP:0032302)

Increased alveolar volume (HP:0033634)

Lambda Bence Jones proteinuria (HP:0032303)

Decreased alveolar volume (HP:0033633)

Abnormal mannose-binding protein level (HP:0032304)

Combined pre- and post-capillary pulmonary hypertension (HP:0033636)

Decreased mannose-binding protein level (HP:0032305)

Post-capillary pulmonary hypertension (HP:0033635)

Family history of cancer (HP:0032317)

Paraseptal emphysema (HP:0033649)

Family history of heart disease (HP:0032318)

Pulmonary pseudocavity (HP:0033648)

Health status (HP:0032319)

Aortic valve leaflet calcification (HP:0033641)

Granulocytosis (HP:0032310)

Acetabular erosions (HP:0033640)

Increased circulating globulin level (HP:0032311)

Increased circulating very long-chain fatty acid concentration (HP:0033643)

Decreased circulating globulin level (HP:0032312)

Mitral valve leaflet calcification (HP:0033642)

Frontotemporal hypertrichosis (HP:0032313)

Midline brainstem cleft (HP:0033645)

Abnormal areolar morphology (HP:0032314)

Elevated circulating erythropoietin concentration (HP:0033644)

Areolar fullness (HP:0032315)

Silhouette sign (HP:0033647)

Family history (HP:0032316)

Absent hippocampal commissure (HP:0033646)

Pulmonary parenchymal band (HP:0033650)

Temporomandibular joint adhesion (HP:0032328)

Increased urinary 11-deoxycortisol level (HP:0032329)

obsolete Crazy-paving pattern (HP:0033659)

Abnormal circulating ethanolamine concentration (HP:0500249)

Affected (HP:0032320)

Broncholith (HP:0033652)

Unaffected (HP:0032321)

Pulmonary mycetoma (HP:0033651)

Healthy (HP:0032322)

Beaded septum sign (HP:0033654)

Periodic fever (HP:0032323)

Bronchocele (HP:0033653)

Non-periodic recurrent fever (HP:0032324)

Juxtaphrenic peak (HP:0033656)

Lacunar stroke (HP:0032325)

Pulmonary cavity (HP:0033655)

Methicillin-resistant Staphylococcus aureus infection (HP:0032326)

Rounded atelectasis (HP:0033658)

Interhemispheric cyst (HP:0032327)

Linear atelectasis (HP:0033657)

Abnormal urine sebacic acid concentration (HP:0500251)

Increased circulating ethanolamine concentration (HP:0500250)

Air crescent (HP:0033661)

Increased urinary 11-deoxycorticosterone level (HP:0032330)

Hand paresthesia (HP:0033660)

Increased urine isobutyrylglycine concentration (HP:0500257)

Abnormal urine isobutyrylglycine concentration (HP:0500256)

Abnormal oxygen level in cord blood (HP:0500259)

Abnormal carbon dioxide level in cord blood (HP:0500258)

Increased level of gamma-aminobutyric acid in urine (HP:0500253)

Increased urine sebacic acid concentration (HP:0500252)

Increased level of hexanoylglycine in urine (HP:0500255)

Abnormal urine hexanoylglycine concentration (HP:0500254)

Lingual dystonia (HP:0031008)

Polyclonal elevation of circulating IgE (HP:0032339)

Ainhum (HP:0031009)

Increased CSF albumin concentration (HP:0500239)

Abnormal CSF albumin concentration (HP:0500238)

Vestibular saccular degeneration (HP:0031000)

Increased urinary 11-deoxytetrahydrocorticosterone level (HP:0032331)

Air trapping (HP:0033663)

Minifascicle formation (HP:0031001)

Oligoclonal elevation of circulating IgM (HP:0032332)

Air bronchogram (HP:0033662)

Neuritis (HP:0031002)

Polyclonal elevation of circulating IgA (HP:0032333)

Diminished health-related quality of life (HP:0033665)

Polyneuritis (HP:0031003)

Oligoclonal elevation of circulating IgA (HP:0032334)

Ganglioglioma (HP:0033664)

Hemiareflexia (HP:0031004)

Monoclonal elevation of circulating IgA (HP:0032335)

Diminished mental health (HP:0033667)

obsolete Hyperalgesia (HP:0031005)

Increased circulating specific IgE antibody (HP:0032336)

Diminished physical functioning (HP:0033666)

Acroparesthesia (HP:0031006)

Monoclonal elevation of circulating IgE (HP:0032337)

Enlarged amygdala (HP:0033669)

Abnormal amygdala morphology (HP:0033668)

Orofacial action-specific dystonia induced by speech (HP:0031007)

Oligoclonal elevation of circulating IgE (HP:0032338)

Abnormal CSF carnosine concentration (HP:0500240)

Organizing pneumonia (HP:0033670)

obsolete Abnormal spirometry test (HP:0032340)

Positive carpal Tinel sign (HP:0033672)

Hyperphalangy of the 3rd finger (HP:0031010)

Reduced forced vital capacity (HP:0032341)

Pulmonary oligemia (HP:0033671)

Increased CSF citrulline concentration (HP:0500246)

Abnormal CSF citrulline concentration (HP:0500245)

Increased CSF alpha-aminobutyrate concentration (HP:0500248)

Abnormal CSF alpha-aminobutyrate concentration (HP:0500247)

Increased CSF homocarnosine concentration (HP:0500242)

Abnormal CSF homocarnosine concentration (HP:0500241)

Increased CSF ornithine concentration (HP:0500244)

Abnormal CSF ornithine concentration (HP:0500243)

Pyknotic bone marrow neutrophils (HP:0031019)

Decreased CSF serine concentration (HP:0500228)

Increased CSF serine concentration (HP:0500227)

Abnormal CSF glycine concentration (HP:0500229)

Fatty streak (HP:0031011)

Reduced forced expiratory volume in one second (HP:0032342)

Pulmonary blood flow redistribution (HP:0033674)

Thin-cap fibroatheroma (HP:0031012)

Positive Phalen test (HP:0033673)

Ankylosis (HP:0031013)

Upslanting toenail (HP:0032344)

Posttraumatic stress symptom (HP:0033676)

Arteria lusoria (HP:0031014)

Elevated cancer Ag 19-9 level (HP:0032345)

Frailty (HP:0033675)

Acute coronary syndrome (HP:0033678)

Intrahepatic portal vein sclerosis (HP:0031015)

Cutaneous lichen amyloidosis (HP:0032346)

Alternating radiolucent and radiodense metaphyseal lines (HP:0031016)

Cutaneous macular amyloidosis (HP:0032347)

Acute respiratory distress syndrome (HP:0033677)

Swiss cheese atrial septal defect (HP:0031017)

Cutaneous nodular amyloidosis (HP:0032348)

Eccrine syringofibroadenoma (HP:0031018)

Serinuria (HP:0032349)

Abnormal red nucleus morphology (HP:0033679)

Oligodendroglioma (HP:0033681)

Sulfocysteinuria (HP:0032350)

Pilocytic astrocytoma (HP:0033680)

Bone marrow hypercellularity (HP:0031020)

Phenylalaninuria (HP:0032351)

Jaw hyperreflexia (HP:0033683)

Squamous Papilloma (HP:0031021)

Methioninuria (HP:0032352)

Pleomorphic xanthoastrocytoma (HP:0033682)

Abnormal CSF histidine concentration (HP:0500235)

Decreased CSF alanine concentration (HP:0500234)

Decreased CSF histidine concentration (HP:0500237)

Increased CSF histidine concentration (HP:0500236)

Abnormal CSF pyruvate family amino acid concentration (HP:0500231)

Increased CSF glycine concentration (HP:0500230)

Increased CSF alanine concentration (HP:0500233)

Abnormal CSF alanine concentration (HP:0500232)

Increased CSF aspartate concentration (HP:0500217)

Abnormal CSF aspartate concentration (HP:0500216)

Abnormal CSF tyrosine concentration (HP:0500219)

Abnormal CSF tryptophan concentration (HP:0500218)

Oropharyngeal squamous papilloma (HP:0031022)

Leucinuria (HP:0032353)

Fiber type grouping (HP:0033685)

Abnormal muscle fiber-type distribution (HP:0033684)

Multiple mucosal neuromas (HP:0031023)

Short term memory impairment (HP:0033687)

Cylindroma (HP:0031024)

Decreased peak expiratory flow (HP:0032355)

Gastric leiomyosarcoma (HP:0031025)

Decreased pre-bronchodilator forced vital capacity (HP:0032356)

Mitochondrial hypertrophy (HP:0033686)

Snail-like ilia (HP:0031026)

Decreased post-bronchodilator forced vital capacity (HP:0032357)

Anterograde memory impairment (HP:0033689)

Internal notch of the femoral head (HP:0031027)

Decreased post-bronchodilator forced expiratory volume in one second (HP:0032358)

Long term memory impairment (HP:0033688)

Lactescent serum (HP:0031028)

Decreased forced expiratory flow 25-75% (HP:0032359)

Elevated carcinoembryonic antigen level (HP:0031029)

Malaligned carpal bone (HP:0006092)

Retrograde memory impairment (HP:0033690)

Finger joint hypermobility (HP:0006094)

Wide tufts of distal phalanges (HP:0006095)

Decreased pre-bronchodilator forced expiratory flow 25-75% (HP:0032360)

Declarative memory loss (HP:0033692)

Elevated carcinoma antigen 125 level (HP:0031030)

Decreased post-bronchodilator forced expiratory flow 25-75% (HP:0032361)

Procedural memory loss (HP:0033691)

3-4 finger syndactyly (HP:0006097)

Abnormal retinol-binding protein level (HP:0031031)

Increased circulating corticosterone level (HP:0032362)

Tactile hallucination (HP:0033694)

Phantosmia (HP:0033693)

Decreased retinol-binding protein level (HP:0031032)

Decreased circulating corticosterone level (HP:0032363)

Metacarpophalangeal joint hyperextensibility (HP:0006099)

Decreased CSF phenylalanine concentration (HP:0500224)

Increased CSF phenylalanine concentration (HP:0500223)

Abnormal CSF serine concentration (HP:0500226)

Abnormal CSF serine family amino acid concentration (HP:0500225)

Increased CSF tyrosine concentration (HP:0500220)

Increased CSF tryptophan concentration (HP:0500222)

Decreased CSF tyrosine concentration (HP:0500221)

Large iliac wing (HP:0008818)

Aplastic pubic bones (HP:0008817)

Narrow femoral neck (HP:0008819)

Hypoplastic inferior ilia (HP:0008821)

Absent ossification of capital femoral epiphysis (HP:0008820)

Hypoplastic inferior pubic rami (HP:0008823)

Hypoplastic ischiopubic rami (HP:0008822)

obsolete Narrow sacroiliac notch (HP:0008803)

Hypoplasia of the femoral head (HP:0008802)

Broad femoral head (HP:0008804)

Acetabular dysplasia (HP:0008807)

High iliac wing (HP:0008808)

Flattened femoral head (HP:0008812)

Hypoplasia of the lesser trochanter (HP:0008801)

Limited hip movement (HP:0008800)

Sub-lamina densa cleavage (HP:0033803)

Intra-epidermal blistering (HP:0033802)

Non-necrotizing granuloma (HP:0033805)

Subepidermal blistering (HP:0033804)

Absent keratohyalin granules (HP:0033807)

Abnormal epidermis stratum granulosum morphology (HP:0033806)

Increased circulating 17 hydroxypregnenolone concentration (HP:0033809)

Spermatocele (HP:0033808)

Blistering by histological location (HP:0033801)

Blistering by anatomical location (HP:0033800)

Paraseptal (HP:0033814)

Perilobular (HP:0033813)

Centrilobular (HP:0033816)

Bronchocentric (HP:0033815)

Reticular (HP:0033818)

Miliary (HP:0033817)

Perilymphatic (HP:0033819)

Decreased circulating dihydrotestosterone concentration (HP:0033810)

Decreased circulating androstenedione concentration (HP:0033812)

Abnormal circulating androstenedione concentration (HP:0033811)

Superior mediastinal mass (HP:0033825)

Pleural mass (HP:0033824)

Anterior mediastinal mass (HP:0033827)

Inferior mediastinal mass (HP:0033826)

Posterior mediastinal mass (HP:0033829)

Middle mediastinal mass (HP:0033828)

Pulmonary mass (HP:0033821)

Apical (HP:0033820)

Mediastinal mass (HP:0033823)

Mass on thoracic imaging (HP:0033822)

Abnormal intrarenal artery morphology (HP:0033836)

Lhermitte's sign (HP:0032504)

Hydrophobia (HP:0032505)

Abnormal renal vascular morphology (HP:0033835)

Alien limb phenomenon (HP:0032506)

Dysphoria (HP:0033838)

Labiomental fasciculations (HP:0032507)

Abnormal arcuate artery morphology (HP:0033837)

Polyembolokoilamania (HP:0032508)

Onychotillomania (HP:0032509)

Testicular pain (HP:0033839)

Hyperdense pulmonary mass (HP:0033830)

Exacerbated by tobacco use (HP:0032500)

Livedo (HP:0033832)

Exacerbated by contraceptive medication (HP:0032501)

Cavitating pulmonary mass (HP:0033831)

Exacerbated by barbiturate medication (HP:0032502)

Malaise (HP:0033834)

Ameliorated by ethanol ingestion (HP:0032503)

Elevated circulating soluble CD25 concentration (HP:0033833)

Deep dermatophytosis (HP:0032515)

Phantageusia (HP:0033847)

Invasive dermatophyte infection (HP:0032516)

Spinal hypomyelination (HP:0033846)

Majocchi's granuloma (HP:0032517)

Bilingual aphasia (HP:0033849)

Disseminated dermatophytosis (HP:0032518)

Receptive aphasia (HP:0033848)

Increased Burr cell count (HP:0032519)

Ocular pruritus (HP:0033841)

Tendon pain (HP:0032510)

Postmenopausal bleeding (HP:0033840)

Superiorly positioned umbilicus (HP:0032511)

Postprandial fullness (HP:0033843)

Early satiety (HP:0033842)

Four-vessel umbilical cord (HP:0032513)

Sense of impending doom (HP:0033845)

Duplicated lacrimal punctum (HP:0032514)

Tachyphrenia (HP:0033844)

Shortening of all middle phalanges of the toes (HP:0006239)

Hyperkeratosis lenticularis perstans (HP:0007570)

Hyperpigmented streaks (HP:0007572)

Late onset atopic dermatitis (HP:0007573)

Phalangeal dislocation (HP:0006243)

Generalized bronze hyperpigmentation (HP:0007574)

Palmar neurofibromas (HP:0007576)

Enlarged interphalangeal joints (HP:0006247)

Limited wrist movement (HP:0006248)

Valgus hand deformity (HP:0006228)

Localized epidermolytic hyperkeratosis (HP:0007559)

Severe short-limb dwarfism (HP:0008890)

Unusual dermatoglyphics (HP:0007560)

Unilateral oligodactyly (HP:0006230)

obsolete Telangiectases in sun-exposed and nonexposed skin (HP:0007561)

Expanded metacarpals with widened medullary cavities (HP:0006232)

Osteoarthritis of the distal interphalangeal joint (HP:0006233)

Osteolysis involving tarsal bones (HP:0006234)

Multiple cafe-au-lait spots (HP:0007565)

Index finger dermatoglyphic radial loop (HP:0007566)

Postnatal growth retardation (HP:0008897)

Slender metacarpals (HP:0006236)

Prominent interphalangeal joints (HP:0006237)

Generalized seborrheic dermatitis (HP:0007569)

Limited mobility of proximal interphalangeal joint (HP:0006217)

obsolete Palmoplantar keratosis with erythema and scale (HP:0007548)

Desquamation of skin soon after birth (HP:0007549)

Hypohidrosis or hyperhidrosis (HP:0007550)

Mild intrauterine growth retardation (HP:0008883)

Abnormal subcutaneous fat tissue distribution (HP:0007552)

Congenital symmetrical palmoplantar keratosis (HP:0007553)

Confetti hypopigmentation pattern of lower leg skin (HP:0007554)

Adipose tissue loss (HP:0008887)

Tapering pointed ends of distal finger phalanges (HP:0006224)

Plantar hyperkeratosis (HP:0007556)

Osteoarthritis of the first carpometacarpal joint (HP:0006226)

Hypersegmentation of proximal phalanx of second finger (HP:0006206)

Severe photosensitivity (HP:0007537)

Partial fusion of carpals (HP:0006207)

Metaphyseal cupping of proximal phalanges (HP:0006208)

Partial-complete absence of 5th phalanges (HP:0006209)

Feeding difficulties in infancy (HP:0008872)

Postaxial oligodactyly (HP:0006210)

Frontal cutaneous lipoma (HP:0007541)

Absent pigmentation of the ventral chest (HP:0007542)

Epidermal hyperkeratosis (HP:0007543)

Disproportionate short-limb short stature (HP:0008873)

Thin proximal phalanges with broad epiphyses of the hand (HP:0006213)

Piebaldism (HP:0007544)

Congenital palmoplantar hyperkeratosis (HP:0007545)

Linear hyperpigmentation (HP:0007546)

Single interphalangeal crease of fifth finger (HP:0006216)

Hypopigmented skin patches on arms (HP:0007526)

Neonatal short-trunk short stature (HP:0008857)

Hidrotic ectodermal dysplasia (HP:0007529)

Punctate palmoplantar hyperkeratosis (HP:0007530)

Widened distal phalanges (HP:0006200)

Hypermobility of distal interphalangeal joints (HP:0006201)

Osteolysis of scaphoids (HP:0006202)

Decreased movement range in interphalangeal joints (HP:0006203)

Congenital posterior occipital alopecia (HP:0007534)

Hypopigmented streaks (HP:0007535)

Irregular phalanges (HP:0006205)

Aplasia cutis congenita of midline scalp vertex (HP:0007536)

Failure to thrive secondary to recurrent infections (HP:0008866)

Hypoplastic pilosebaceous units (HP:0007515)

Redundant skin on fingers (HP:0007516)

Severe intrauterine growth retardation (HP:0008846)

Palmoplantar cutis laxa (HP:0007517)

Moderately short stature (HP:0008848)

obsolete Lack of subcutaneous fatty tissue (HP:0007519)

Severe postnatal growth retardation (HP:0008850)

Irregular hyperpigmentation of back (HP:0007521)

Increased number of skin folds (HP:0007522)

Atypical neurofibromatosis (HP:0007524)

Yellow subcutaneous tissue covered by thin, scaly skin (HP:0007525)

Moderate postnatal growth retardation (HP:0008855)

Diffuse slow skin atrophy (HP:0007504)

Progressive hyperpigmentation (HP:0007505)

Multicentric femoral head ossification (HP:0008835)

Congenital absence of skin of limbs (HP:0007506)

Stippled calcification proximal humeral epiphyses (HP:0008838)

Punctate palmar hyperkeratosis (HP:0007508)

Patchy hypo- and hyperpigmentation (HP:0007509)

Hypoplastic pelvis (HP:0008839)

Focal dermal aplasia/hypoplasia (HP:0007510)

Mottled pigmentation of photoexposed areas (HP:0007511)

Hip osteoarthritis (HP:0008843)

Generalized hypopigmentation (HP:0007513)

Mesomelic short stature (HP:0008845)

Edema of the dorsum of hands (HP:0007514)

Hypoplastic iliac body (HP:0008824)

Dislocation of the femoral head (HP:0008826)

Delayed femoral head ossification (HP:0008829)

Delayed proximal femoral epiphyseal ossification (HP:0008828)

Hypoplastic pubic rami (HP:0008830)

Decreased number of sweat glands (HP:0007500)

Streaks of hyperkeratosis along each finger onto the palm (HP:0007501)

Follicular hyperkeratosis (HP:0007502)

Generalized ichthyosis (HP:0007503)

Irregular acetabular roof (HP:0008833)

Beaded vitreous appearance (HP:0031154)

Abnormal fecal osmolality (HP:0032485)

Increased Arden ratio of electrooculogram (HP:0031155)

Elevated fecal osmolality (HP:0032486)

Decreased platelet glycoprotein Ib (HP:0031156)

Reduced fecal osmolality (HP:0032487)

Carotid cavernous fistula (HP:0031157)

Abnormal fecal pH (HP:0032488)

Widened atrophic scar (HP:0031158)

Elevated fecal pH (HP:0032489)

Thinning of Descemet membrane (HP:0031159)

Decreased fecal pH (HP:0032490)

Myelokathexis (HP:0031160)

Increased circulating argininosuccinic acid (HP:0032491)

Reduced brain glutamate level by MRS (HP:0031161)

Anti-myelin oligodendrocyte glycoprotein antibody positivity (HP:0032492)

Impaired oropharyngeal swallow response (HP:0031162)

Increased circulating trypsinogen (HP:0032493)

Low femoral bone density (HP:0031163)

Growth arrest lines (HP:0031164)

Abnormal terminal:vellus ratio (HP:0032495)

Multifocal seizures (HP:0031165)

Elevated terminal:vellus ratio (HP:0032496)

Eyelid myokymia (HP:0031166)

Reduced terminal:vellus ratio (HP:0032497)

Triggered by ingestion of potassium-rich food (HP:0031167)

Giant neutrophil granules (HP:0032499)

Postterm pregnancy (HP:0031169)

Radially deviated wrists (HP:0006190)

Deep palmar crease (HP:0006191)

Tapered phalanx of finger (HP:0006192)

Female fetal virilization (HP:0031170)

Thimble-shaped middle phalanges of hand (HP:0006193)

Femoral spur (HP:0031171)

Sectoral retinitis pigmentosa (HP:0031172)

Tibial spur (HP:0031173)

Double-layered patella (HP:0031174)

Absent cervical vertebra (HP:0031175)

Absent thoracic vertebra (HP:0031176)

Finger flexor weakness (HP:0031177)

Fixed head retroflexion (HP:0031178)

Nuchal rigidity (HP:0031179)

Crowded carpal bones (HP:0006180)

Erythema migrans (HP:0031180)

Necrolytic migratory erythema (HP:0031181)

Decreased palmar creases (HP:0006184)

Enlarged proximal interphalangeal joints (HP:0006185)

Increased circulating NT-proBNP concentration (HP:0031185)

Abnormal circulating deoxycorticosterone level (HP:0031186)

obsolete Fusion of midphalangeal joints (HP:0006187)

Prominent interdigital folds (HP:0006189)

Abnormal circulating pregnenolone concentration (HP:0031187)

Genital edema (HP:0031188)

Wrist drop (HP:0031189)

Superficial dermal perivascular inflammatory infiltrate (HP:0031190)

Deep dermal perivascular inflammatory infiltrate (HP:0031191)

Chess-pawn distal phalanges (HP:0006170)

Abnormal morphology of left ventricular trabeculae (HP:0031192)

Abnormal morphology of right ventricular trabeculae (HP:0031193)

Flattened, squared-off epiphyses of tubular bones (HP:0006172)

Increased density of left ventricular trabeculae (HP:0031194)

Apical hypertrabeculation of the left ventricle (HP:0031195)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Thin myocardium compact layer (HP:0031196)

Proximal phalangeal periosteal thickening (HP:0006175)

Cellular urinary casts (HP:0031197)

Two carpal ossification centers present at birth (HP:0006176)

Pseudoepiphyses of second metacarpal (HP:0006179)

Renal tubular epithelial cell casts (HP:0031198)

Acellular urinary casts (HP:0031199)

Linear arrays of macular hyperkeratoses in flexural areas (HP:0007490)

Irregular metacarpals (HP:0006160)

Short metacarpals with rounded proximal ends (HP:0006161)

Soft tissue swelling of interphalangeal joints (HP:0006162)

Enlarged metacarpophalangeal joints (HP:0006163)

Discrete 2 to 5-mm hyper- and hypopigmented macules (HP:0007494)

Prematurely aged appearance (HP:0007495)

Proportionate shortening of all digits (HP:0006165)

Tubular metacarpal bones (HP:0006166)

Focal friction-related palmoplantar hyperkeratosis (HP:0007497)

Prominent proximal interphalangeal joints (HP:0006167)

Recurrent staphylococcal infections (HP:0007499)

Decreased mobility 3rd-5th fingers (HP:0006169)

Decreased sweating due to autonomic dysfunction (HP:0007480)

Swan neck-like deformities of the fingers (HP:0006150)

Hyperpigmented nevi (HP:0007481)

Generalized papillary lesions (HP:0007482)

Proximal symphalangism of hands (HP:0006152)

Depigmentation/hyperpigmentation of skin (HP:0007483)

Disharmonious carpal bone (HP:0006153)

Absence of subcutaneous fat (HP:0007485)

Long phalanx of finger (HP:0006155)

Cavernous hemangioma of the face (HP:0007486)

Ulnar deviation of thumb (HP:0006156)

Prominent palmar flexion creases (HP:0006157)

Diffuse skin atrophy (HP:0007488)

obsolete Finger joint hyperextensibility (HP:0006158)

Diffuse telangiectasia (HP:0007489)

Mesoaxial hand polydactyly (HP:0006159)

Periarticular subcutaneous nodules (HP:0007470)

Premature fusion of phalangeal epiphyses (HP:0006140)

Axillary and groin hyperpigmentation and hypopigmentation (HP:0007471)

Crusting erythematous dermatitis (HP:0007473)

Abnormal finger flexion creases (HP:0006143)

Shortening of all proximal phalanges of the fingers (HP:0006144)

Congenital bullous ichthyosiform erythroderma (HP:0007475)

Central Y-shaped metacarpal (HP:0006145)

Anhidrotic ectodermal dysplasia (HP:0007476)

Abnormal dermatoglyphics (HP:0007477)

Broad metacarpal epiphyses (HP:0006146)

Progressive fusion 2nd-5th pip joints (HP:0006147)

Congenital nonbullous ichthyosiform erythroderma (HP:0007479)

Increased laxity of fingers (HP:0006149)

Drumstick terminal phalanges (HP:0006129)

Autoamputation of digits (HP:0007460)

Hemangiomatosis (HP:0007461)

Bitot spots of the conjunctiva (HP:0007462)

Sparse facial hair (HP:0007464)

Dysplastic iliac wing (HP:0008794)

Enlarged metacarpal epiphyses (HP:0006134)

Honeycomb palmoplantar hyperkeratosis (HP:0007465)

Early ossification of capital femoral epiphyses (HP:0008797)

Decreased finger mobility (HP:0006135)

Midfrontal capillary hemangioma (HP:0007466)

Externally rotated hips (HP:0008796)

Bilateral postaxial polydactyly (HP:0006136)

Perifollicular hyperkeratosis (HP:0007468)

Widened greater sciatic notch (HP:0008798)

Palmoplantar cutis gyrata (HP:0007469)

Increased urinary phosphoserine level (HP:0032405)

Grade III vesicoureteral reflux (HP:0033737)

Unilateral perisylvian polymicrogyria (HP:0032406)

Grade II vesicoureteral reflux (HP:0033736)

Bilateral perisylvian polymicrogyria (HP:0032407)

Secondary vesicoureteral reflux (HP:0033739)

Breast mass (HP:0032408)

Primary vesicoureteral reflux (HP:0033738)

Subcortical band heterotopia (HP:0032409)

Focal lupus nephritis (HP:0033731)

Dysgyria with thickened cortex (HP:0032400)

Membranous lupus nephritis (HP:0033730)

Aspartic aciduria (HP:0032401)

Low-grade vesicoureteral reflux (HP:0033733)

Advanced sclerotic lupus nephritis (HP:0033732)

Asparaginuria (HP:0032403)

Grade I vesicoureteral reflux (HP:0033735)

Testicular mass (HP:0032404)

High-grade vesicoureteral reflux (HP:0033734)

Retinal microaneurysm (HP:0032416)

Hypoesthesia (HP:0033748)

Abnormal exteroceptive sensation (HP:0033747)

Periglomerular fibrosis (HP:0032417)

Abnormal HDL subfraction concentration (HP:0032418)

Abnormal HDL2a concentration (HP:0032419)

Abnormal functional residual capacity (HP:0033749)

Grade V vesicoureteral reflux (HP:0033740)

Bilateral generalized polymicrogyria (HP:0032410)

Intrarenal reflux (HP:0033742)

Posterior predominant subcortical band heterotopia (HP:0032411)

Grade IV vesicoureteral reflux (HP:0033741)

Anterior predominant subcortical band heterotopia (HP:0032412)

Global cerebellar dysplasia (HP:0033744)

Diffuse subcortical band heterotopia (HP:0032413)

Macular agenesis (HP:0033743)

Hydroxylysinuria (HP:0032414)

Intrascapular pain (HP:0033746)

Parasagittal parieto-occipital polymicrogyria (HP:0032415)

Dysplasia of the superior cerebellar vermis (HP:0033745)

Abnormal HDL3c concentration (HP:0032427)

Impaired renal tubular reabsorption of magnesium (HP:0033759)

Increased HDL3a concentration (HP:0032428)

Labial abscess (HP:0033758)

Decreased HDL3a concentration (HP:0032429)

Elevated functional residual capacity (HP:0033751)

Increased HDL2a concentration (HP:0032420)

Reduced functional residual capacity (HP:0033750)

Decreased HDL2a concentration (HP:0032421)

Reduced residual volume (HP:0033753)

Abnormal HDL2b concentration (HP:0032422)

Abnormal residual volume (HP:0033752)

Decreased HDL2b concentration (HP:0032423)

Increased left ventricular end-diastolic volume (HP:0033755)

Increased HDL2b concentration (HP:0032424)

Abnormal left ventricular end-diastolic volume (HP:0033754)

Abnormal HDL3a concentration (HP:0032425)

Pancreatic steatosis (HP:0033757)

Abnormal HDL3b concentration (HP:0032426)

Decreased left ventricular end-diastolic volume (HP:0033756)

Decreased maximal oxygen uptake (HP:0033760)

Decreased fibular diameter (HP:0031107)

Platelet anisocytosis (HP:0032438)

Triceps weakness (HP:0031108)

Airborn particle hypersensitivity (HP:0032439)

Fundic gland polyposis (HP:0033769)

Agalactia (HP:0031109)

Increased HDL3b concentration (HP:0032430)

Middle cerebral artery stroke (HP:0033762)

Decreased inhibin B level (HP:0031100)

Decreased HDL3b concentration (HP:0032431)

Xanthogranulomatous pyelonephritis (HP:0033761)

Abnormal circulating antimullerian hormone concentration (HP:0031101)

Increased HDL3c concentration (HP:0032432)

Death in middle age (HP:0033764)

Increased antimullerian hormone level (HP:0031102)

Decreased HDL3c concentration (HP:0032433)

Death in adulthood (HP:0033763)

Decreased antimullerian hormone level (HP:0031103)

Delayed umbilical cord separation (HP:0032434)

Polymelia (HP:0033766)

Insulin receptor antibody positivity (HP:0031104)

Neonatal omphalitis (HP:0032435)

Death in late adulthood (HP:0033765)

Abnormal uterus morphology (HP:0031105)

Abnormal C-reactive protein level (HP:0032436)

Penile thrush (HP:0033768)

T-shaped uterus (HP:0031106)

Reduced C-reactive protein level (HP:0032437)

Abnormal single motor unit action potential (HP:0033767)

Pleuritic chest pain (HP:0033771)

Blood group B (HP:0032440)

Gastric adenocarcinoma (HP:0033770)

Abnormal dermoepidermal hemidesmosome morphology (HP:0032449)

Single raphe bicuspid aortic valve (HP:0031118)

Bicuspid aortic valve with right-left cusp fusion (HP:0031119)

Twin-to-twin transfusion (HP:0031110)

Blood group AB (HP:0032441)

Decreased RV/TLC ratio (HP:0033773)

Cutaneous hamartoma (HP:0031111)

Blood group O (HP:0032442)

Abnormal RV/TLC ratio (HP:0033772)

Past medical history (HP:0032443)

Pulmonary imaging sign (HP:0033775)

Status post organ transplantation (HP:0032444)

Impaired renal tubular reabsorption of uric acid (HP:0033774)

Pulmonary cyst (HP:0032445)

Supernumerary cusp (HP:0033777)

Pulmonary bulla (HP:0032446)

Enamel pearls (HP:0033776)

Pulmonary bleb (HP:0032447)

Barrel-shaped tooth (HP:0033779)

Purely bicuspid aortic valve (HP:0031117)

Achlorhydria (HP:0032448)

Leung cusp (HP:0033778)

Bulbous tooth (HP:0033780)

Positive blood arsenic test (HP:0032450)

Semilunar tooth (HP:0033782)

Bicuspid aortic valve with right-noncoronary cusp fusion (HP:0031120)

Oral melanotic macule (HP:0032451)

Tapered tooth (HP:0033781)

Impaired phorbol myristate acetate-induced platelet aggregation (HP:0031129)

Bicuspid aortic valve with left-noncoronary cusp fusion (HP:0031121)

Oral melanoacanthoma (HP:0032452)

Dentin dysplasia (HP:0033784)

Abnormal lip pigmentation (HP:0032453)

Two-raphe bicuspid aortic valve (HP:0031122)

Molar incisor malformation (HP:0033783)

Recurrent gastroenteritis (HP:0031123)

Labial melanotic macule (HP:0032454)

Hypomature enamel (HP:0033786)

Decreased platelet thromboxane A2 receptor (HP:0031124)

Reduced granulocyte CD18 level (HP:0032455)

Enamel agenesis (HP:0033785)

Decreased platelet alpha-2A-adrenergic receptor (HP:0031125)

Unlayered lissencephaly (HP:0032456)

Cementum overgrowth (HP:0033788)

Impaired clot retraction (HP:0031126)

2-3-layered lissencephaly (HP:0032457)

Cementum hypoplasia (HP:0033787)

Impaired convulxin-induced platelet aggregation (HP:0031127)

Narrowing of medullary canal (HP:0032458)

Abnormal phosphoribosylpyrophosphate synthetase level (HP:0032459)

Impaired collagen-related peptide-induced platelet aggregation (HP:0031128)

Triggered by cheese ingestion (HP:0033789)

Tooth ankylosis (HP:0033791)

Decreased phosphoribosylpyrophosphate synthetase level (HP:0032460)

Thistle tube shaped pulp (HP:0033790)

Triggered by food ingestion (HP:0033793)

Impaired calcium ionophore-induced platelet aggregation (HP:0031130)

obsolete Tiger-tail banding (HP:0032461)

Abnormal platelet phosphatidylserine exposure (HP:0031131)

Increased circulating palmitate level (HP:0032462)

Cross bite (HP:0033792)

Impaired annexin V binding to platelet phosphatidylserine (HP:0031132)

Reduced circulating fibronectin level (HP:0032463)

Growth without growth hormone (HP:0033795)

Increased annexin V binding to platelet phosphatidylserine (HP:0031133)

Ureteral hypoplasia (HP:0032464)

Acral overgrowth (HP:0033794)

Cor triatrium sinister (HP:0031134)

Bladder trabeculation (HP:0032465)

Leukocyte migration defect (HP:0033797)

Triggered by physical trauma (HP:0031135)

Abnormal leukocyte physiology (HP:0033796)

Aplasia of the olfactory bulb (HP:0032466)

Abnormal circulating sex hormone concentration (HP:0033799)

Decreased acrosin in sperm head (HP:0031136)

Past obstetric history (HP:0032467)

Storage in hepatocytes (HP:0031137)

History of stillbirth (HP:0032468)

Impaired leukocyte adhesion (HP:0033798)

Abnormal B-type natriuretic peptide level (HP:0031138)

Anti-asialoglycoprotein receptor antibody positivity (HP:0032469)

Frog-leg posture (HP:0031139)

Monilethrix (HP:0032470)

Abnormal liver sonography (HP:0031140)

Focal polymicrogyria (HP:0032471)

Increased hepatic echogenicity (HP:0031141)

Abnormal urine urobilinogen level (HP:0032472)

Abnormal hepatic echogenicity (HP:0031142)

Decreased urine urobilinogen (HP:0032473)

Decreased hepatic echogenicity (HP:0031143)

Coarsened hepatic echotexture (HP:0031144)

6-layered lissencephaly (HP:0032475)

Abnormal circulating vitamin B6 level (HP:0032476)

Starry sky appearance on hepatic sonography (HP:0031145)

Impaired oral bolus formation (HP:0031146)

Elevated circulating vitamin B6 level (HP:0032477)

Lateral spinal meningocele (HP:0032478)

Preimplantation lethality (HP:0032479)

Beta-aminoisobutyric aciduria (HP:0032480)

Vitreomacular adhesion (HP:0031150)

Abnormal pituitary glycoprotein hormone alpha subunit level (HP:0032481)

Vitreomacular traction (HP:0031151)

Decreased pituitary glycoprotein hormone alpha subunit level (HP:0032482)

Full-thickness macular hole (HP:0031152)

obsolete Abnormal fecal test result (HP:0032483)

Membranous vitreous appearance (HP:0031153)

Elevated fecal sodium (HP:0032484)

Freckles in sun-exposed areas (HP:0007603)

Generalized neonatal hypotonia (HP:0008935)

Excessive wrinkling of palmar skin (HP:0007605)

Multiple cutaneous malignancies (HP:0007606)

Axial hypotonia (HP:0008936)

Hypohidrotic ectodermal dysplasia (HP:0007607)

Abnormal palmar dermal ridges (HP:0007608)

Hypoproteinemic edema (HP:0007609)

Generalized lymphadenopathy (HP:0008940)

Blotching pigmentation of the skin (HP:0007610)

Acute rhabdomyolysis (HP:0008942)

Distal lower limb amyotrophy (HP:0008944)

Spinous keratoses of palms and soles (HP:0007613)

Arcuate artery endotheliosis (HP:0033902)

Abnormal arcuate artery endothelium morphology (HP:0033901)

Renal arteriole intima/media hyalinosis (HP:0033904)

Arcuate artery endoarterial hypercellularity (HP:0033903)

Renal intimal/medial arteriolitis (HP:0033906)

Arcuate artery intima/media arteriosclerosis (HP:0033905)

Renal arteriole medial atrophy (HP:0033908)

Asymmetric short stature (HP:0008929)

Renal arteriole intima/media arteriolosclerosis (HP:0033907)

Renal arteriole intima/media amyloidosis (HP:0033900)

Arcuate vein medial hypertrophy (HP:0033909)

Midline facial capillary hemangioma (HP:0007601)

Complex palmar dermatoglyphic pattern (HP:0007602)

Cortical radial artery medial/intimal arteriitis (HP:0033913)

Cortical radial artery medial atrophy (HP:0033912)

Childhood-onset truncal obesity (HP:0008915)

Arcuate artery intimal mucoid edema (HP:0033915)

Arcuate artery intima/media amyloidosis (HP:0033914)

Arcuate intimal/medial venulitis (HP:0033917)

Medial/intimal arcuate venosclerosis (HP:0033916)

Medial/intimal arcuate venulitis (HP:0033919)

Renal arteriole medial hypertrophy (HP:0033918)

Cortical radial artery medial hypertrophy (HP:0033911)

Arcuate vein medial atrophy (HP:0033910)

Childhood-onset short-trunk short stature (HP:0008922)

Neonatal short-limb short stature (HP:0008921)

Renal arteriole neutrophil endoarterial hypercellularity (HP:0033924)

Renal arteriole foam cell endoarterial hypercellularity (HP:0033923)

Renal arteriole intimal/medial multilamellation (HP:0033926)

Renal arteriole lymphocyte endoarterial hypercellularity (HP:0033925)

Arcuate artery endoarterial foam cell hypercellularity (HP:0033928)

Rhizomelia (HP:0008905)

Arcuate artery endoarterial leukocyte hypercellularity (HP:0033927)

Arcuate artery endoarterial neutrophil hypercellularity (HP:0033929)

Lethal short-limbed short stature (HP:0008909)

Renal arteriole intima/media storage material accumulation (HP:0033920)

Renal arteriole leukocytic endoarterial hypercellularity (HP:0033922)

Renal arteriole endoarterial hypercellularity (HP:0033921)

Renal tubular epithelial cell simplification (HP:0032603)

Cortical radial artery intima/media necrosis (HP:0033935)

Renal tubular epithelial cell mitosis (HP:0032604)

Arcuate vein intimal/medial storage material accumulation (HP:0033934)

High renal tubular epithelial cell N/C ratio (HP:0032605)

Cortical radial artery intima/media coagulative necrosis (HP:0033937)

Renal tubular epithelial lipofuscin (HP:0032606)

Cortical radial artery intima/media liquefactive necrosis (HP:0033936)

Renal tubular epithelial cell swelling (HP:0032607)

Renal arteriole intima/media liquefactive necrosis (HP:0033939)

Thyroidization-type tubular atrophy (HP:0032608)

Renal arteriole intima/media necrosis (HP:0033938)

Endocrine-type tubular atrophy (HP:0032609)

Arcuate artery intima/media necrosis (HP:0033931)

Renal tubular epithelial cell hyaline droplets (HP:0032600)

Arcuate artery endoarterial lymphocyte hypercellularity (HP:0033930)

Multinucleation of renal tubular epithelial cells (HP:0032601)

Arcuate artery intima/media liquefactive necrosis (HP:0033933)

Prominent nucleoli of renal tubular epithelial cells (HP:0032602)

Arcuate artery intima/media coagulative necrosis (HP:0033932)

Renal glomerular amyloid deposition (HP:0032614)

Arcuate vein intima/media crystal accumulation (HP:0033946)

Abnormal diffusion weighted cerebral MRI morphology (HP:0032615)

Arcuate intimal/medial granulomatous venulitis (HP:0033945)

Renal interstitial immunoglobulin deposits (HP:0032616)

Arcuate artery intima/media arteriitis (HP:0033948)

Renal interstitial hemorrhage (HP:0032617)

Renal arteriole intima/media crystal accumulation (HP:0033947)

Renal necrosis (HP:0032618)

Perinephric abscess (HP:0032619)

Arcuate artery intima/media granulomatous arteriitis (HP:0033949)

Renal arteriole intima/media coagulative necrosis (HP:0033940)

Tubulointerstitial mycobacterial infiltration (HP:0032610)

Arcuate vein medial/intimal necrosis (HP:0033942)

Renal tubular epithelial cell hemosiderin (HP:0032611)

Granulomatous arteriolitis of the arteriolar intima/media (HP:0033941)

Triphalangeal hallux (HP:0032612)

Arcuate vein medial/intimal liquefactive necrosis (HP:0033944)

Renal interstitial amyloid deposits (HP:0032613)

Arcuate vein medial/intimal coagulative necrosis (HP:0033943)

Intratubular erythrocyte cast (HP:0032625)

Cortical radial artery neutrophil hypercellularity (HP:0033957)

Intratubular vancomycin casts (HP:0032626)

Cortical radial artery lymphocyte hypercellularity (HP:0033956)

Intratubular leukocyte casts (HP:0032627)

Cortical radial artery intima/media arteriosclerosis (HP:0033959)

Renal intratubular crystals (HP:0032628)

Cortical radial artery foam cell hypercellularity (HP:0033958)

Intratubular dihydroxyadenuria crystals (HP:0032629)

Cortical radial artery intraluminal organized thrombi (HP:0033951)

Intrarenal abscess (HP:0032620)

Cortical radial artery intraluminal thrombi (HP:0033950)

Hyperchromasia of renal tubular epithelial cells (HP:0032621)

Cortical radial artery endotheliosis (HP:0033953)

Tubular luminal dilatation (HP:0032622)

Abnormal cortical radial artery endothelium morphology (HP:0033952)

Renal intratubular casts (HP:0032623)

Cortical radial artery leukocyte hypercellularity (HP:0033955)

Intratubular bilirubin casts (HP:0032624)

Cortical radial artery hypercellularity (HP:0033954)

Tibial arterial calcification (HP:0031305)

Tubulointerstitial viral infiltration (HP:0032636)

Interlobular vein intima/media granulomatous venulitis (HP:0033968)

Intracranial arterial calcification (HP:0031306)

Renal interstitial edema (HP:0032637)

Interlobular vein intima/media venulitis (HP:0033967)

Internal carotid artery calcification (HP:0031307)

Elevated urine mevalonic acid (HP:0032638)

Vertebral artery calcification (HP:0031308)

Elevated leukocyte cystine (HP:0032639)

Interlobular vein intima/media necrosis (HP:0033969)

Cerebral artery calcification (HP:0031309)

Cortical radial artery intimal mucoid edema (HP:0033960)

Intratubular light-chain casts (HP:0032630)

Cortical radial artery medial/intimal granulomatous arteriitis (HP:0033962)

Abnormal circulating properdin level (HP:0031300)

Intratubular hemoglobin casts (HP:0032631)

Cortical radial artery intima/media multilamellation (HP:0033961)

Peripheral arterial calcification (HP:0031301)

Renal papillary necrosis (HP:0032632)

Interlobular intima/media venosclerosis (HP:0033964)

Lower extremity peripheral arterial calcification (HP:0031302)

Intratubular hyaline casts (HP:0032633)

Abnormal interlobular vein intima/media morphology (HP:0033963)

Femoral arterial calcification (HP:0031303)

Intratubular myoglobin cast (HP:0032634)

Interlobular vein intima/media amyloidosis (HP:0033966)

Tubulointerstitial microganismal infiltration (HP:0032635)

Iliac arterial calcification (HP:0031304)

Interlobular vein intimal mucoid edema (HP:0033965)

Widened proximal tibial metaphyses (HP:0005028)

Mesomelic/rhizomelic limb shortening (HP:0005026)

Hypoplastic distal humeri (HP:0005025)

Bilateral elbow dislocations (HP:0005021)

Map-dot-fingerprint corneal dystrophy (HP:0007690)

obsolete Short curly eyelashes (HP:0007691)

Irregular femoral epiphysis (HP:0006361)

obsolete Nonnuclear polymorphic congenital cataract (HP:0007692)

Varus deformity of humeral neck (HP:0006362)

Abnormal pupillary light reflex (HP:0007695)

Adductor longus contractures (HP:0006366)

Hypoplasia of the lower eyelids (HP:0007697)

Crumpled long bones (HP:0006367)

obsolete Retinal pigment epithelial atrophy (HP:0007698)

Forearm reduction defects (HP:0006368)

Diaphyseal thickening (HP:0005019)

Irregular patellae (HP:0006369)

Multiple long-bone exostoses (HP:0005039)

Agenesis of permanent teeth (HP:0006349)

Proximal radio-ulnar synostosis (HP:0005037)

Unilateral ulnar hypoplasia (HP:0005036)

Shortening of all phalanges of the toes (HP:0005035)

Distal ulnar hypoplasia (HP:0005033)

Depigmented fundus (HP:0007680)

Pulp obliteration (HP:0006350)

Failure of eruption of permanent teeth (HP:0006352)

Hypoplasia of the tooth germ (HP:0006353)

Peripheral retinal avascularization (HP:0007685)

Abnormal pupillary function (HP:0007686)

Agenesis of mandibular central incisor (HP:0006355)

Unilateral ptosis (HP:0007687)

Premature loss of permanent teeth (HP:0006357)

Undetectable light- and dark-adapted electroretinogram (HP:0007688)

Shovel-shaped maxillary central incisors (HP:0006358)

Malformation of mandibular premolar (HP:0006338)

Femoral bowing present at birth, straightening with time (HP:0005005)

Conical mandibular incisor (HP:0006339)

Flattened proximal radial epiphyses (HP:0005004)

Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)

Recurrent patellar dislocation (HP:0005001)

Abnormal vestibulo-ocular reflex (HP:0007670)

Peg-shaped maxillary lateral incisors (HP:0006342)

Abnormality of primary molar morphology (HP:0006344)

Progressive night blindness (HP:0007675)

Hypoplasia of the iris (HP:0007676)

Screwdriver-shaped incisors (HP:0006346)

Vitelliform-like macular lesions (HP:0007677)

Microdontia of primary teeth (HP:0006347)

Lacrimal duct stenosis (HP:0007678)

Polyarticular chondrocalcinosis (HP:0005017)

Large hyperpigmented retinal spots (HP:0007658)

obsolete Decreased retinal pigmentation with dispersion (HP:0007659)

Alveolar process hypoplasia (HP:0006329)

Dysplastic distal radial epiphyses (HP:0005013)

Mesomelic arm shortening (HP:0005011)

Osteomyelitis leading to amputation due to slow healing fractures (HP:0005010)

Exercise-induced leg cramps (HP:0008991)

Rotated maxillary central incisors (HP:0006330)

Abnormality of chorioretinal pigmentation (HP:0007661)

Increased intraabdominal fat (HP:0008993)

Reduced visual acuity (HP:0007663)

Supernumerary maxillary incisor (HP:0006332)

Proximal muscle weakness in lower limbs (HP:0008994)

Crowded maxillary incisors (HP:0006333)

Hypoplasia of the primary teeth (HP:0006334)

Curly eyelashes (HP:0007665)

Proximal muscle weakness in upper limbs (HP:0008997)

Dumbbell-shaped humerus (HP:0005009)

Persistence of primary teeth (HP:0006335)

Large joint dislocations (HP:0005008)

Short dental root (HP:0006336)

Peripheral cystoid retinal degeneration (HP:0007667)

Premature eruption of permanent teeth (HP:0006337)

Impaired pursuit initiation and maintenance (HP:0007668)

Pectoralis hypoplasia (HP:0008998)

Irregularly spaced teeth (HP:0006316)

Congenital extraocular muscle anomaly (HP:0007647)

Punctate cataract (HP:0007648)

Necrotizing myopathy (HP:0008978)

Congenital hypertrophy of retinal pigment epithelium (HP:0007649)

Progressive ophthalmoplegia (HP:0007650)

Ectropion of lower eyelids (HP:0007651)

Calf muscle hypertrophy (HP:0008981)

Multiple non-erupting secondary teeth (HP:0006321)

Neck muscle hypoplasia (HP:0008984)

Premature loss of primary teeth (HP:0006323)

obsolete Retinal striation (HP:0007654)

Agenesis of the diaphragm (HP:0008986)

Eversion of lateral third of lower eyelids (HP:0007655)

Increased intramuscular fat (HP:0008985)

Pelvic girdle muscle atrophy (HP:0008988)

Lacrimal gland aplasia (HP:0007656)

Buried teeth encased in mucopolysaccharide (HP:0006326)

Diffuse nuclear cataract (HP:0007657)

Muscle hypertrophy of the lower extremities (HP:0008968)

Exercise-induced muscle stiffness (HP:0008967)

Atrophy of alveolar ridges (HP:0006308)

Leg muscle stiffness (HP:0008969)

Scapulohumeral muscular dystrophy (HP:0008970)

Dyschromatopsia (HP:0007641)

Generalized microdontia (HP:0006311)

Congenital stationary night blindness (HP:0007642)

Decreased activity of mitochondrial respiratory chain (HP:0008972)

Peripheral tractional retinal detachment (HP:0007643)

Widely spaced primary teeth (HP:0006313)

Solitary median maxillary central incisor (HP:0006315)

Absent lower eyelashes (HP:0007646)

Mandibular osteomyelitis (HP:0007626)

Proximal lower limb amyotrophy (HP:0008956)

Mandibular condyle aplasia (HP:0007627)

Distal upper limb muscle weakness (HP:0008959)

Mandibular condyle hypoplasia (HP:0007628)

Calf muscle hypoplasia (HP:0008962)

Nonprogressive muscular atrophy (HP:0008964)

Dagger-shaped pulp calcifications (HP:0006302)

Bilateral microphthalmos (HP:0007633)

Tibialis muscle weakness (HP:0008963)

Nonarteritic anterior ischemic optic neuropathy (HP:0007634)

Widely-spaced incisors (HP:0006304)

Pelvic girdle amyotrophy (HP:0008946)

Loss of ability to walk in early childhood (HP:0008945)

Nevus flammeus nuchae (HP:0007616)

Proximal upper limb amyotrophy (HP:0008948)

Fine, reticulate skin pigmentation (HP:0007617)

Infantile muscular hypotonia (HP:0008947)

Subcutaneous calcification (HP:0007618)

Cutaneous leiomyoma (HP:0007620)

Telangiectasia of extensor surfaces (HP:0007621)

Pectoralis major hypoplasia (HP:0008953)

Shoulder muscle hypoplasia (HP:0008952)

Pigmentation anomalies of sun-exposed skin (HP:0007623)

Progressive distal muscular atrophy (HP:0008955)

Intrinsic hand muscle atrophy (HP:0008954)

Distributive shock (HP:0031275)

Obstructive shock (HP:0031276)

Abnormal thoracic duct morphology (HP:0031278)

Abnormal response to gonadotropin-releasing hormone stimulation test (HP:0031279)

Retinopathy of prematurity stage 2 (HP:0500051)

Retinopathy of prematurity stage 1 (HP:0500050)

Increased LH response to gonadotropin-releasing hormone stimulation test (HP:0031280)

Retinopathy of prematurity stage 4 (HP:0500053)

Sialadenitis (HP:0031281)

Retinopathy of prematurity stage 3 (HP:0500052)

Malalignment of the great toenail (HP:0031282)

Tufted hairs (HP:0031283)

Flushing (HP:0031284)

Abnormal perifollicular morphology (HP:0031285)

Retinopathy of prematurity zone I (HP:0500059)

Retinopathy of prematurity stage 5b (HP:0500058)

Retinopathy of prematurity stage 4b (HP:0500055)

Retinopathy of prematurity stage 4a (HP:0500054)

Retinopathy of prematurity stage 5a (HP:0500057)

Retinopathy of prematurity stage 5 (HP:0500056)

Perifollicular erythema (HP:0031286)

Seborrheic keratosis (HP:0031287)

Cobblestone-like hyperkeratosis (HP:0031288)

White papule (HP:0031289)

Dermolipoma of the conjunctiva (HP:0500040)

Tuberous xanthoma (HP:0031290)

Ichthyosis follicularis (HP:0031291)

Latent hypermetropia (HP:0500042)

Cutaneous abscess (HP:0031292)

Myopic astigmatism (HP:0500041)

Digital pitting scar (HP:0031293)

Hypoplastic right atrium (HP:0031294)

Left atrial enlargement (HP:0031295)

Atrial septal hypertrophy (HP:0031296)

Delayed canalization of nasolacrimal duct (HP:0500048)

Nasolacrimal sac lymphoma (HP:0500047)

Retinopathy of prematurity (HP:0500049)

Upper eyelid retraction (HP:0500044)

Eyelid retraction (HP:0500043)

Seborrhoeic blepharitis (HP:0500046)

Collier's sign (HP:0500045)

Unroofed coronary sinus (HP:0031297)

Coronary sinus enlargement (HP:0031298)

Elevated left atrial pressure (HP:0031299)

Sclerosis of the carpal bones (HP:0500031)

Abnormal hepatic glycogen storage (HP:0500030)

Nasolacrimal sac epithelial papillary carcinoma (HP:0500037)

Nasolacrimal sac papilloma (HP:0500036)

Conjunctival cicatrization (HP:0500039)

Abnormal natural killer subset distribution (HP:0500033)

Abnormal neuron branching (HP:0500032)

Nasolacrimal sac granuloma (HP:0500035)

Nasolacrimal sac obstruction (HP:0500034)

Abnormal resting energy expenditure from metabolic cart test (HP:0500019)

Abnormal cardiac exercise stress test (HP:0500018)

Discolored lateral incisors (HP:0006290)

Marked delay in eruption of permanent teeth (HP:0006291)

Abnormal cardiac biomarker test (HP:0500020)

Abnormality of dental eruption (HP:0006292)

Agenesis of maxillary central incisor (HP:0006293)

Enamel hypoplasia (HP:0006297)

Hypoplasia of the musculature of the pelvis (HP:0500026)

Prolonged bleeding after dental extraction (HP:0006298)

Cotton wool plaques (HP:0500028)

Aplastic colon (HP:0500027)

Abnormal circulating dehydroepiandrosterone concentration (HP:0500022)

Reduced brain gamma-aminobutyric acid level by MRS (HP:0500021)

Aplasia of the musculature of the pelvis (HP:0500024)

Shoulder muscle aplasia (HP:0500023)

Food-induced anaphylaxis (HP:0500095)

Latex allergy (HP:0500094)

Chronic pancreatitis (HP:0006280)

Stool xenobiotic (HP:0500097)

Venom-induced anaphylaxis (HP:0500096)

Generalized hypoplasia of dental enamel (HP:0006282)

Lymphangioma of the orbit (HP:0500091)

Multiple unerupted teeth (HP:0006283)

Periocular capillary hemangioma (HP:0500090)

Food allergy (HP:0500093)

Enamel hypomineralization (HP:0006285)

Orbital rhabdomyosarcoma (HP:0500092)

Yellow-brown discoloration of the teeth (HP:0006286)

Advanced eruption of teeth (HP:0006288)

Agenesis of central incisor (HP:0006289)

Hair xenobiotic (HP:0500099)

Meconium xenobiotic (HP:0500098)

Optic nerve gray crescent (HP:0500086)

Hypoplastic spleen (HP:0006270)

Pancreatic lymphangiectasis (HP:0006273)

Reduced pancreatic beta cells (HP:0006274)

Pseudophakia (HP:0500081)

Hyperechogenic pancreas (HP:0006276)

Pancreatic hyperplasia (HP:0006277)

Ectopic pancreatic tissue (HP:0006278)

Beta-cell dysfunction (HP:0006279)

Foveal depigmentation (HP:0500088)

Peripapillary atrophy (HP:0500087)

Optic nerve sheath meningioma (HP:0500089)

Abnormal ocular alignment (HP:0500073)

Absolute eccentric fixation (HP:0500072)

Dissociated horizontal deviation (HP:0500075)

Aplasia cutis congenita over posterior parietal area (HP:0007590)

Dissociated vertical deviation (HP:0500074)

Abnormal phalangeal joint morphology of the hand (HP:0006261)

Aplasia/Hypoplastia of the eccrine sweat glands (HP:0007592)

Aplasia/Hypoplasia of the 5th finger (HP:0006262)

Abnormality of the epiphyses of the 2nd finger (HP:0006263)

Conjunctival dermolipoma (HP:0500070)

Aplasia/Hypoplasia of the 2nd finger (HP:0006264)

Redundant skin in infancy (HP:0007595)

Aplasia/Hypoplasia of fingers (HP:0006265)

Painful subcutaneous lipomas (HP:0007596)

Small placenta (HP:0006266)

obsolete Congenital palmoplantar keratodermia (HP:0007597)

Large placenta (HP:0006267)

Bilateral single transverse palmar creases (HP:0007598)

Fluctuating splenomegaly (HP:0006268)

Generalized reticulate brown pigmentation (HP:0007599)

Alternating hyperphoria (HP:0500077)

Alternating hypertropia (HP:0500076)

Alternating hypophoria (HP:0500079)

Alternating hypotropia (HP:0500078)

Retinopathy of prematurity plus (HP:0500062)

Retinopathy of prematurity zone III (HP:0500061)

Retinopathy of prematurity threshold (HP:0500064)

Retinopathy of prematurity pre-plus (HP:0500063)

Mediosternal, longitudinal streak of hypopigmentation (HP:0007581)

Limited wrist extension (HP:0006251)

Retinopathy of prematurity zone II (HP:0500060)

Interphalangeal joint erosions (HP:0006252)

Telangiectasia macularis eruptiva perstans (HP:0007583)

Swelling of proximal interphalangeal joints (HP:0006253)

Elevated alpha-fetoprotein (HP:0006254)

Skin fragility with non-scarring blistering (HP:0007585)

Paralytic ectropion (HP:0500069)

Telangiectases producing 'marbled' skin (HP:0007586)

Abnormality of hand joint mobility (HP:0006256)

Numerous pigmented freckles (HP:0007587)

Abnormality of carpal bone ossification (HP:0006257)

Reticular hyperpigmentation (HP:0007588)

Latent myopia (HP:0500066)

Aplasia cutis congenita on trunk or limbs (HP:0007589)

Retinopathy of prematurity prethreshold (HP:0500065)

Ameliorated by acetylcholinesterase inhibitor (HP:0032526)

Organized thrombi within interlobular vein lumen (HP:0033858)

Inferiorly positioned umbilicus (HP:0032527)

Intraluminal thrombi within interlobular veins (HP:0033857)

Elevated urinary 4-hydroxybutyric acid (HP:0032528)

obsolete Elevated circulating gamma-aminobutyric acid concentration (HP:0032529)

Abnormal peritubular capillary morphology (HP:0033859)

Coldness (HP:0033850)

Masseter muscular weakness (HP:0032520)

Abnormal intrarenal vein morphology (HP:0033852)

Self hugging (HP:0032521)

Oculomotor synkinesis (HP:0033851)

Ameliorated by immunosuppresion (HP:0032522)

Abnormal interlobular vein morphology (HP:0033854)

Tendon thickening (HP:0032523)

Abnormal arcuate vein morphology (HP:0033853)

Long thumb (HP:0032524)

Cholesterol emboli within interlobular vein lumen (HP:0033856)

Aggravated by acetylcholinesterase inhibitor (HP:0032525)

Abnormal interlobular vein lumen morphology (HP:0033855)

Striatal T2 hyperintensity (HP:0031206)

Delayed fracture healing (HP:0032537)

Medullary peritubular capillary lumen cholesterol emboli (HP:0033869)

Hepatic hemangioma (HP:0031207)

Pretibial dimple (HP:0032538)

Abnormal medullary peritubular capillary lumen morphology (HP:0033868)

Increased pituitary glycoprotein hormone alpha subunit level (HP:0031208)

Joint extensor surface localization (HP:0032539)

Decreased circulating lipoprotein lipase concentration (HP:0031209)

Multilamellation of cortical peritubular capillary basement membranes (HP:0033861)

Decreased succinic semialdehyde dehydrogenase level (HP:0032530)

Abnormal cortical peritubular capillary morphology (HP:0033860)

Hyaline casts (HP:0031200)

Elevated CSF gamma-aminobutyric acid concentration (HP:0032531)

Abnormal cortical peritubular capillary lumen morphology (HP:0033863)

Granular casts (HP:0031201)

Elevated CSF 4-hydroxybutyric acid concentration (HP:0032532)

Cortical peritubular capillaritis (HP:0033862)

Waxy casts (HP:0031202)

Elevated circulating acetone concentration (HP:0032533)

Medullary peritubular capillaritis (HP:0033865)

Fatty casts (HP:0031203)

Exacerbated by methylxanthine ingestion (HP:0032534)

Abnormal medullary peritubular capillary morphology (HP:0033864)

Bacterial cell casts (HP:0031204)

Cervical (neck) (HP:0032535)

Multilamellation of medullary peritubular capillary basement membranes (HP:0033867)

Reduced lysosomal acid lipase activity (HP:0031205)

Increased number of lymph nodes (HP:0032536)

Medullary peritubular capillary erythrocyte congestion (HP:0033866)

Medullary peritubular capillary intraluminal thrombi (HP:0033870)

Hot flashes (HP:0031217)

Increased placental thickness (HP:0032548)

Inappropriate antidiuretic hormone secretion (HP:0031218)

Persistent asymmetrical tonic neck reflex (HP:0032549)

Abnormal arcuate vein intima/media morphology (HP:0033879)

Reduced radioactive iodine uptake (HP:0031219)

Joint flexor surface localization (HP:0032540)

Cortical peritubular capillary lumen cholesterol emboli (HP:0033872)

Abnormal circulating hyaluronic acid concentration (HP:0031210)

Knuckle pad (HP:0032541)

Medullary peritubular capillary lumen organized thrombi (HP:0033871)

Elevated cholesterol ester level (HP:0031211)

Exacerbated by pregnancy (HP:0032542)

Cortical peritubular capillary lumen organized thrombi (HP:0033874)

Abnormal circulating progesterone level (HP:0031212)

Lithoptysis (HP:0032543)

Cortical peritubular capillary intraluminal thrombi (HP:0033873)

Elevated circulating 17-hydroxyprogesterone (HP:0031213)

Predominant small joint localization (HP:0032544)

Arcuate vein lumen cholesterol emboli (HP:0033876)

Decreased circulating dehydroepiandrosterone concentration (HP:0031214)

Abdominal rigidity (HP:0032545)

Abnormal arcuate vein lumen morphology (HP:0033875)

Decreased circulating dehydroepiandrosterone-sulfate concentration (HP:0031215)

Abdominal guarding (HP:0032546)

Arcuate vein lumen organized thrombi (HP:0033878)

Increased circulating progesterone (HP:0031216)

Low intraocular pressure (HP:0032547)

Arcuate vein intraluminal thrombi (HP:0033877)

Arcuate vein intimal/medial myxomatous degeneration (HP:0033881)

Howell-Jolly bodies (HP:0032550)

Arcuate vein intimal mucoid edema (HP:0033880)

Abnormal incisura morphology (HP:0031228)

Short sperm flagella (HP:0032559)

Increased incisura length (HP:0031229)

Increased radioactive iodine uptake (HP:0031220)

Hemorrhoids (HP:0032551)

Abnormal cortical radial artery morphology (HP:0033883)

Abnormal radioactive iodine uptake test result (HP:0031221)

Abnormal pulse (HP:0032552)

Arcuate vein intima/medial amyloidosis (HP:0033882)

Increased circulating thyroxine-binding globulin level (HP:0031222)

Weak pulse (HP:0032553)

Cortical radial artery lumen cholesterol emboli (HP:0033885)

Focal pancreatic islet hyperplasia (HP:0031223)

Absent pulse (HP:0032554)

Abnormal cortical radial artery lumen morphology (HP:0033884)

Diffuse pancreatic islet hyperplasia (HP:0031224)

Bounding pulse (HP:0032555)

Cortical radial artery intimal/medial amyloidosis (HP:0033887)

Intrapulmonary shunt (HP:0031225)

Circumoral cyanosis (HP:0032556)

Abnormal arcuate artery intima/media morphology (HP:0033886)

Perinephric fluid collection (HP:0031226)

History of bone marrow transplant (HP:0032557)

Abnormal renal arteriole morphology (HP:0033889)

Nasopharyngeal teratoma (HP:0031227)

Absent sperm flagella (HP:0032558)

Abnormal cortical radial artery intima/media morphology (HP:0033888)

Abnormal renal arteriole lumen morphology (HP:0033890)

Coiled sperm flagella (HP:0032560)

Abnormal renal arteriole intima/media morphology (HP:0033892)

Decreased incisura length (HP:0031230)

Microcephalic sperm head (HP:0032561)

Renal arteriolar lumen cholesterol emboli (HP:0033891)

Extrafoveal choroidal neovascularization (HP:0031239)

Cornea verticillata (HP:0500008)

Iris flocculi (HP:0500007)

Dysplastic gangliocytoma of the cerebellum (HP:0500009)

Narrow incisura width (HP:0031231)

Tapered sperm head (HP:0032562)

Renal arteriolar intraluminal thrombi (HP:0033894)

Increased incisura width (HP:0031232)

Dacryocytosis (HP:0032563)

Renal arteriolar lumen organized thrombi (HP:0033893)

Horizontal inferior border of scapula (HP:0031233)

Ileitis (HP:0032564)

Abnormal arcuate artery lumen morphology (HP:0033896)

Neutrophilic infiltration of the skin (HP:0031234)

Vaginal mucosal ulceration (HP:0032565)

Abnormal renal arteriole endothelium morphology (HP:0033895)

Predominantly epidermal neutrophilic infiltrate (HP:0031235)

Oval macrocytosis (HP:0032566)

Arcuate artery intraluminal thrombi (HP:0033898)

Predominantly dermal neutrophilic infiltrate (HP:0031236)

Lipiduria (HP:0032567)

Arcuate artery lumen cholesterol emboli (HP:0033897)

Internally nucleated skeletal muscle fibers (HP:0031237)

Urinary mulberry cells (HP:0032568)

Necklace skeletal muscle fibers (HP:0031238)

Temporal bossing (HP:0032569)

Arcuate artery lumen organized thrombi (HP:0033899)

Pontine ischemic lacunes (HP:0032570)

Juxtafoveal choroidal neovascularization (HP:0031240)

Increased oocyte death (HP:0032571)

Subfoveal choroidal neovascularization (HP:0031241)

Abnormal urinary nucleobase concentration (HP:0032572)

Abnormal cardiac test (HP:0500015)

obsolete Abnormal test result (HP:0500014)

Abnormal cardiac catheterization (HP:0500017)

Abnormal cardiac MRI (HP:0500016)

Moon facies (HP:0500011)

obsolete Increased cholesterol esters (HP:0500010)

Lack of gonadotropin-releasing hormone pulsatility (HP:0500013)

Abnormal gonadotropin-releasing hormone concentration (HP:0500012)

Decreased circulating chylomicron concentration (HP:0031242)

Elevated urinary cytidine (HP:0032573)

Decreased VLDL cholesterol concentration (HP:0031243)

Elevated uridine in urine (HP:0032574)

Swollen lip (HP:0031244)

Decreased circulating 12-HETE (HP:0032575)

Productive cough (HP:0031245)

Intracellular accumulation of Dol-PP-GlcNAc2Man5 (HP:0032576)

Nonproductive cough (HP:0031246)

Clonal T cell receptor rearrangement (HP:0032577)

Whooping cough (HP:0031247)

Third ventricle colloid cyst (HP:0032578)

Palmar pruritus (HP:0031248)

Vascular hamartoma (HP:0032579)

Parageusia (HP:0031249)

Abnormal bulbus cordis morphology (HP:0032580)

Abnormal renal insterstitial morphology (HP:0032581)

Lip fissure (HP:0031250)

Abnormal subclavian artery morphology (HP:0031251)

Renal interstitial foam cells (HP:0032582)

Dilated left subclavian artery (HP:0031252)

Renal glomerular foam cells (HP:0032583)

Urethritis (HP:0500006)

Anal pain (HP:0500005)

Body odor (HP:0500001)

Anomalous origin of left subclavian artery (HP:0031253)

Renal interstitial neutrophil infiltration (HP:0032584)

Thalamic arteriovenous malformation (HP:0031254)

Renal interstitial eosinophil infiltration (HP:0032585)

Hypothalamic arteriovenous malformation (HP:0031255)

Renal interstitial plasma cell infiltration (HP:0032586)

Optic nerve arteriovenous malformation (HP:0031256)

Renal interstitial calcium oxalate (HP:0032587)

Arteriovenous malformation of the maxilla (HP:0031257)

Hand apraxia (HP:0032588)

Delirium (HP:0031258)

Renal lymphocytic tubulitis (HP:0032589)

Oophoritis (HP:0031259)

Renal neutrophilic tubulitis (HP:0032590)

Triangular tibia (HP:0031260)

Renal interstitial hemosiderin (HP:0032591)

Bladder polyp (HP:0031261)

Aplasia of the right hemidiaphragm (HP:0032592)

Myoglobin casts (HP:0032593)

Abnormal renal corpuscle morphology (HP:0031263)

Renal tubular basement membrane denudation (HP:0032594)

Abnormal Bowman capsule morphology (HP:0031264)

Renal tubular epithelial cell detachment (HP:0032595)

Abnormal glomerular visceral epithelial cell morphology (HP:0031265)

Renal tubular epithelial cell cytoplasmic vacuolization (HP:0032596)

Podocyte foot process effacement (HP:0031266)

Renal tubular epithelial cell sloughing (HP:0032597)

Abnormal CD69 upregulation upon TCR activation (HP:0031267)

Blebbing of apical cytoplasm of renal tubular epithelial cells (HP:0032598)

Abnormal renal tubular epithelial morphology (HP:0032599)

Decreased CD69 upregulation upon TCR activation (HP:0031268)

Abnormal CD25 upregulation upon TCR activation (HP:0031269)

Decreased CD25 upregulation upon TCR activation (HP:0031270)

Absent ankle pulse (HP:0031271)

Pulmonary arterial atherosclerosis (HP:0031272)

Shock (HP:0031273)

Hypovolemic shock (HP:0031274)

Irregular epiphysis of the distal phalanx of the 2nd finger (HP:0009507)

Midline sinus of philtrum (HP:0011828)

Fragmentation of the epiphysis of the distal phalanx of the 2nd finger (HP:0009506)

Narrow philtrum (HP:0011829)

Pseudoepiphysis of the distal phalanx of the 2nd finger (HP:0009509)

Ivory epiphysis of the distal phalanx of the 2nd finger (HP:0009508)

Chin with H-shaped crease (HP:0011824)

Tented philtrum (HP:0011825)

Philtrum with midline raphe (HP:0011826)

Malaligned philtral ridges (HP:0011827)

Membranous choanal atresia (HP:0011820)

Elevated circulating aconitic acid concentration (HP:0033179)

Abnormal facial skeleton morphology (HP:0011821)

Increased circulating interleukin 8 concentration (HP:0033178)

Broad chin (HP:0011822)

Chin with horizontal crease (HP:0011823)

Increased circulating cathepsin D level (HP:0033182)

Spinal epidural abscess (HP:0033181)

Triggered by infection (HP:0033184)

Bilobed right lung (HP:0033183)

Misalignment of the pulmonary veins (HP:0033186)

Triggered by EBV infection (HP:0033185)

Cystic acne (HP:0033188)

Hyperimidodipeptiduria (HP:0033187)

Small epiphysis of the distal phalanx of the 2nd finger (HP:0009510)

Triangular epiphysis of the distal phalanx of the 2nd finger (HP:0009512)

Stippling of the epiphysis of the distal phalanx of the 2nd finger (HP:0009511)

Bracket epiphysis of the middle phalanx of the 2nd finger (HP:0009514)

Absent epiphysis of the middle phalanx of the 2nd finger (HP:0009513)

Enlarged epiphysis of the middle phalanx of the 2nd finger (HP:0009516)

Torsion of appendix of testis (HP:0033180)

Cone-shaped epiphysis of the middle phalanx of the 2nd finger (HP:0009515)

Basal encephalocele (HP:0011817)

Nasofrontal encephalocele (HP:0011818)

Submucous cleft soft palate (HP:0011819)

Increased cerebral lipofuscin (HP:0011813)

Increased urinary hypoxanthine (HP:0011814)

Cephalocele (HP:0011815)

Parietal encephalocele (HP:0011816)

Impaired two-point discrimination (HP:0011810)

Radiculomegaly (HP:0033189)

Impaired touch localization (HP:0011811)

Agraphesthesia (HP:0011812)

Ballooning hepatocyte degeneration (HP:0033193)

Decreased circulating selenium concentration (HP:0033192)

Perianal erythema (HP:0033195)

Perioral erythema (HP:0033194)

Hepatic lobular inflammation (HP:0033197)

Portal inflammation (HP:0033196)

Increased circulating interleukin 10 concentration (HP:0033199)

Triggered by viral infection (HP:0033198)

Abnormality of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009501)

Abnormality of the epiphysis of the middle phalanx of the 2nd finger (HP:0009500)

Bracket epiphysis of the distal phalanx of the 2nd finger (HP:0009503)

Absent epiphysis of the distal phalanx of the 2nd finger (HP:0009502)

Enlarged epiphysis of the distal phalanx of the 2nd finger (HP:0009505)

Increased circulating selenium concentration (HP:0033191)

Cone-shaped epiphysis of the distal phalanx of the 2nd finger (HP:0009504)

Hypertrichotic hyperpigmented patch (HP:0033190)

Type 1 muscle fiber atrophy (HP:0011807)

Decreased patellar reflex (HP:0011808)

Paradoxical myotonia (HP:0011809)

Hamartoma of tongue (HP:0011802)

Bifid nose (HP:0011803)

Abnormal muscle physiology (HP:0011804)

Abnormal skeletal muscle morphology (HP:0011805)

Midface retrusion (HP:0011800)

Enlargement of parotid gland (HP:0011801)

Proximal scleroderma (HP:0550003)

Verruca plana (HP:0550004)

Bilateral basilar pulmonary fibrosis (HP:0550005)

Central hypothyroidism (HP:0011787)

Steep acetabular roof (HP:0010455)

Acetabular spurs (HP:0010454)

Increased circulating free T3 (HP:0011788)

Pelvic bone asymmetry (HP:0010453)

Impaired sensitivity to thyroid stimulating hormone (HP:0011789)

Ectopia of the spleen (HP:0010452)

True hermaphroditism (HP:0010459)

Thyrotoxicosis from ectopic thyroid tissue (HP:0011783)

Female pseudohermaphroditism (HP:0010458)

Thyrotoxicosis with diffuse goiter (HP:0011784)

obsolete Widening of the sacrosciatic notch (HP:0010457)

Thyrotoxicosis with toxic multinodular goiter (HP:0011785)

Abnormal greater sciatic notch morphology (HP:0010456)

Thyrotoxicosis with toxic single thyroid nodule (HP:0011786)

Activating thyroid-stimulating hormone receptor defect (HP:0011790)

Inactivating thyroid-stimulating hormone receptor defect (HP:0011791)

Neoplasm by histology (HP:0011792)

Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)

Neoplasm by anatomical site (HP:0011793)

Contracture of the metacarpophalangeal joint of the 3rd finger (HP:0009470)

Joint contracture of the hand (HP:0009473)

Delayed calcaneal ossification (HP:0008142)

Aplasia/Hypoplasia of the ovary (HP:0010462)

Abnormality of the male genitalia (HP:0010461)

Dislocation of toes (HP:0008141)

Abnormality of the female genitalia (HP:0010460)

Increased proteinogenic amino acid level in urine (HP:0033100)

Flattening of the talar dome (HP:0008144)

Proximal/middle symphalangism of 4th finger (HP:0009477)

Impaired epinephrine-induced platelet aggregation (HP:0008148)

Symphalangism of the proximal phalanx of the 4th finger with the 4th metacarpal (HP:0009478)

Abnormal circulating non-proteinogenic amino acid concentration (HP:0033109)

Pulmonary insufficiency (HP:0010444)

Thyroid microfollicular adenoma (HP:0011776)

Monkey wrench femoral neck (HP:0033102)

Bifid femur (HP:0010443)

Thyroid papillary adenoma (HP:0011777)

Elevated urine aconitic acid level (HP:0033101)

Polydactyly (HP:0010442)

Thyroid atypical adenoma (HP:0011778)

Inappropriate absence of fever (HP:0033104)

Ectopic accessory finger-like appendage (HP:0010441)

Anaplastic thyroid carcinoma (HP:0011779)

Elevated circulating CHI3L1 level (HP:0033103)

Abnormal thyroid morphology (HP:0011772)

Colonic atresia (HP:0010448)

Elevated circulating D-dimer concentration (HP:0033106)

Anal fistula (HP:0010447)

Uninodular goiter (HP:0011773)

Interhypothalamic Adhesion (HP:0033105)

Abnormal circulating proteinogenic amino acid derivative concentration (HP:0033108)

Tricuspid stenosis (HP:0010446)

Thyroid follicular adenoma (HP:0011774)

Abnormal circulating proteinogenic amino acid concentration (HP:0033107)

Primum atrial septal defect (HP:0010445)

Thyroid macrofollicular adenoma (HP:0011775)

Thyroid hemiagenesis (HP:0011780)

Aplasia of the 3rd finger (HP:0009460)

Thyroid C cell hyperplasia (HP:0011781)

Thyroid crisis (HP:0011782)

Aplasia/Hypoplasia of the spleen (HP:0010451)

Tarsal stippling (HP:0008131)

Radial deviation of the 3rd finger (HP:0009462)

Esophageal stenosis (HP:0010450)

Short 3rd finger (HP:0009461)

Distal tapering of metatarsals (HP:0008133)

Ulnar deviation of the 2nd finger (HP:0009464)

3-hydroxyisovaleric aciduria (HP:0033111)

Medial rotation of the medial malleolus (HP:0008132)

Ulnar deviation of the 3rd finger (HP:0009463)

Elevated circulating alpha-aminobutyric acid concentration (HP:0033110)

Radial deviation of finger (HP:0009466)

Ulnar deviation of finger (HP:0009465)

Irregular tarsal ossification (HP:0008134)

Deviation of the 2nd finger (HP:0009468)

Radial deviation of the 2nd finger (HP:0009467)

Equinus calcaneus (HP:0008138)

Contracture of the distal interphalangeal joint of the 3rd finger (HP:0009469)

Abnormal ventricular septum morphology (HP:0010438)

Ectopic parathyroid (HP:0011769)

Short distal phalanx of the 2nd toe (HP:0010433)

obsolete Ectopic anterior pituitary (HP:0011765)

Gallop rhythm (HP:0033113)

Abnormality of the parathyroid morphology (HP:0011766)

Absent distal phalanx of the 2nd toe (HP:0010432)

Elevated circulating apolipoprotein C-III concentration (HP:0033112)

Abnormality of the parathyroid physiology (HP:0011767)

Short phalanx of the 2nd toe (HP:0010431)

Elevated circulating tenascin-C level (HP:0033115)

Parathyroid dysgenesis (HP:0011768)

Aplasia of the phalanges of the 2nd toe (HP:0010430)

Quadruple gallop rhythm (HP:0033114)

Short proximal phalanx of the 2nd toe (HP:0010437)

Pituitary null cell adenoma (HP:0011761)

Duodenitis (HP:0033117)

Aplasia of the proximal phalanx of the 2nd toe (HP:0010436)

Pituitary thyrotropic cell adenoma (HP:0011762)

Duodenal gastric metaplasia (HP:0033116)

Short middle phalanx of the 2nd toe (HP:0010435)

Pituitary carcinoma (HP:0011763)

Elevated right ventricular systolic pressure (HP:0033119)

Abnormal right ventricular function (HP:0033118)

Aplasia of the middle phalanx of the 2nd toe (HP:0010434)

Pituitary spindle cell oncocytoma (HP:0011764)

Tertiary hyperparathyroidism (HP:0011770)

Autoimmune hypoparathyroidism (HP:0011771)

Bullet-shaped proximal phalanx of the 3rd finger (HP:0009451)

Ectopic accesory toe-like appendage (HP:0010440)

Nummular eczema (HP:0033120)

Broad proximal phalanx of the 3rd finger (HP:0009450)

Calcaneonavicular fusion (HP:0008122)

Osteolytic defects of the proximal phalanx of the 3rd finger (HP:0009453)

Absent P wave (HP:0033122)

Curved proximal phalanx of the 3rd finger (HP:0009452)

Barking cough (HP:0033121)

Talipes calcaneovarus (HP:0008124)

Symphalangism affecting the proximal phalanx of the 3rd finger (HP:0009455)

Patchy sclerosis of the proximal phalanx of the 3rd finger (HP:0009454)

Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger (HP:0009457)

Second metatarsal posteriorly placed (HP:0008125)

Triangular shaped proximal phalanx of the 3rd finger (HP:0009456)

Short proximal phalanx of the 3rd finger (HP:0009459)

Bipartite calcaneus (HP:0008127)

Aplasia of the proximal phalanx of the 3rd finger (HP:0009458)

Complete duplication of the phalanges of the 2nd toe (HP:0010429)

Partial duplication of phalanx of the 2nd toe (HP:0010428)

Partial duplication of the middle phalanx of the 2nd toe (HP:0010427)

Pituitary acidophilic stem cell adenoma (HP:0011758)

Pituitary gonadotropic cell adenoma (HP:0011759)

Complete duplication of the proximal phalanx of the 2nd toe (HP:0010422)

Pituicytoma (HP:0011754)

Increased serum sorbitol concentration (HP:0033124)

Duplication of the distal phalanx of the 2nd toe (HP:0010421)

Ectopic posterior pituitary (HP:0011755)

Elevated circulating osteopontin level (HP:0033123)

Triangular shaped distal phalanx of the 2nd toe (HP:0010420)

Posterior pituitary agenesis (HP:0011756)

Cutaneous necrosis (HP:0033126)

Posterior pituitary hypoplasia (HP:0011757)

Follicular lymphoma (HP:0033125)

Neoplasm of the anterior pituitary (HP:0011750)

Complete duplication of the middle phalanx of the 2nd toe (HP:0010426)

Delayed ability to crawl (HP:0033128)

Abnormality of the posterior pituitary (HP:0011751)

Abnormality of the musculoskeletal system (HP:0033127)

Partial duplication of the distal phalanx of the 2nd toe (HP:0010425)

Complete duplication of the distal phalanx of the 2nd toe (HP:0010424)

Neoplasm of the posterior pituitary (HP:0011752)

Abnormal shoulder physiology (HP:0033129)

Partial duplication of the proximal phalanx of the 2nd toe (HP:0010423)

Posterior pituitary dysgenesis (HP:0011753)

Pituitary growth hormone cell adenoma (HP:0011760)

Broad phalanges of the 3rd finger (HP:0009440)

Renal medullary hyperechogenicity (HP:0033131)

Abnormal renal echogenicity (HP:0033130)

Broad distal hallux (HP:0008111)

Curved phalanges of the 3rd finger (HP:0009442)

Renal cortical hypoechogeneity (HP:0033133)

Equinovarus deformity (HP:0008110)

Bullet-shaped phalanges of the 3rd finger (HP:0009441)

Renal cortical hyperechogenicity (HP:0033132)

Multiple plantar creases (HP:0008113)

Patchy sclerosis of 3rd finger phalanx (HP:0009444)

Plantar flexion contractures (HP:0008112)

Osteolytic defects of the phalanges of the 3rd finger (HP:0009443)

Clinodactyly of the 3rd toe (HP:0008115)

Triangular shaped phalanges of the 3rd finger (HP:0009446)

Metatarsal diaphyseal endosteal sclerosis (HP:0008114)

Symphalangism of the 3rd finger (HP:0009445)

Shortening of the talar neck (HP:0008117)

obsolete Aplasia of the phalanges of the 3rd finger (HP:0009448)

Flexion limitation of toes (HP:0008116)

Aplasia/Hypoplasia of the phalanges of the 3rd finger (HP:0009447)

Deformed tarsal bones (HP:0008119)

obsolete Hypoplastic/small phalanges of the 3rd finger (HP:0009449)

Symphalangism affecting the distal phalanx of the 2nd toe (HP:0010419)

Aplasia of the distal phalanx of the 3rd finger (HP:0009429)

Patchy sclerosis of the distal phalanx of the 2nd toe (HP:0010418)

Osteolytic defects of the distal phalanx of the 2nd toe (HP:0010417)

Curved distal phalanx of the 2nd toe (HP:0010416)

Abnormality of the anterior pituitary (HP:0011747)

Adrenocorticotropic hormone deficiency (HP:0011748)

Adrenocorticotropic hormone excess (HP:0011749)

Triangular shaped middle phalanx of the 2nd toe (HP:0010411)

Adrenal gland agenesis (HP:0011743)

Hepatic infarction (HP:0033135)

Symphalangism affecting the middle phalanx of the 2nd toe (HP:0010410)

Secondary hypercortisolism (HP:0011744)

Abdominal adhesions (HP:0033134)

Abnormal pulmonary alveolar system morphology (HP:0033137)

Non-secretory adrenocortical adenoma (HP:0011745)

Secretory adrenocortical adenoma (HP:0011746)

Lymph node abscess (HP:0033136)

Bullet-shaped distal phalanx of the 2nd toe (HP:0010415)

Elevated circulating uracil concentration (HP:0033139)

Broad distal phalanx of the 2nd toe (HP:0010414)

Glucocortocoid-insensitive primary hyperaldosteronism (HP:0011740)

Right atrial thrombus (HP:0033138)

Aplasia/Hypoplasia of the distal phalanx of the 2nd toe (HP:0010413)

Secondary hyperaldosteronism (HP:0011741)

Duplication of the middle phalanx of the 2nd toe (HP:0010412)

Ectopic adrenal gland (HP:0011742)

Blake's pouch cyst (HP:0033140)

Long nasal bridge (HP:0033142)

Severe SARS-CoV-2 infection (HP:0033141)

Bullet-shaped middle phalanx of the 3rd finger (HP:0009431)

Abnormal circulating ceruloplasmin concentration (HP:0033144)

Broad middle phalanx of the 3rd finger (HP:0009430)

Jejunitis (HP:0033143)

Expanded metatarsals with widened medullary cavities (HP:0008102)

Osteolytic defects of the middle phalanx of the 3rd finger (HP:0009433)

Curved middle phalanx of the 3rd finger (HP:0009432)

Symphalangism of middle phalanx of 3rd finger (HP:0009435)

Delayed tarsal ossification (HP:0008103)

Patchy sclerosis of the middle phalanx of the 3rd finger (HP:0009434)

Aplasia/Hypoplasia of the middle phalanx of the 3rd finger (HP:0009437)

Triangular shaped middle phalanx of the 3rd finger (HP:0009436)

Advanced tarsal ossification (HP:0008108)

Short middle phalanx of the 3rd finger (HP:0009439)

Plantar crease between first and second toes (HP:0008107)

Absent middle phalanx of 3rd finger (HP:0009438)

Stippling of the epiphyses of the 3rd finger (HP:0009419)

Osteolytic defects of the middle phalanx of the 2nd toe (HP:0010408)

Small epiphyses of the 3rd finger (HP:0009418)

Curved middle phalanx of the 2nd toe (HP:0010407)

Bullet-shaped middle phalanx of the 2nd toe (HP:0010406)

Broad middle phalanx of the 2nd toe (HP:0010405)

Primary hyperaldosteronism (HP:0011736)

Corticotropin-releasing hormone deficient adrenal insufficiency (HP:0011737)

Corticotropin-releasing hormone receptor defect (HP:0011738)

Patchy sclerosis of the middle phalanx of the 2nd toe (HP:0010409)

Dexamethasone-suppressible primary hyperaldosteronism (HP:0011739)

Abnormality of adrenal morphology (HP:0011732)

Patchy sclerosis of the proximal phalanx of the 2nd toe (HP:0010400)

Elevated circulating methylsuccinic acid concentration (HP:0033146)

Abnormality of adrenal physiology (HP:0011733)

Increased circulating ceruloplasmin concentration (HP:0033145)

Central adrenal insufficiency (HP:0011734)

Increased circulating isovaleric acid concentration (HP:0033148)

Adrenocorticotropin deficient adrenal insufficiency (HP:0011735)

Abnormal circulating short-chain fatty-acid concentration (HP:0033147)

Aplasia/Hypoplasia of the middle phalanx of the 2nd toe (HP:0010404)

Duplication of the proximal phalanx of the 2nd toe (HP:0010403)

Intrahepatic bile duct dilatation (HP:0033149)

Triangular shaped proximal phalanx of the 2nd toe (HP:0010402)

Abnormal central sensory function (HP:0011730)

Abnormality of circulating cortisol level (HP:0011731)

Symphalangism affecting the proximal phalanx of the 2nd toe (HP:0010401)

Abnormal pharynx morphology (HP:0033151)

Anorectal abscess (HP:0033150)

Elevated circulating dodecenoylcarnitine concentration (HP:0033153)

Abnormal pharynx physiology (HP:0033152)

Triangular epiphyses of the 3rd finger (HP:0009420)

Elevated circulating L-alloisoleucine concentration (HP:0033155)

Elevated circulating deoxypyridinoline concentration (HP:0033154)

Broad distal phalanx of the 3rd finger (HP:0009422)

Aplasia/Hypoplasia of the distal phalanx of the 3rd finger (HP:0009421)

Osteolytic defects of the distal phalanx of the 3rd finger (HP:0009424)

Bullet-shaped distal phalanx of the 3rd finger (HP:0009423)

Distal/middle symphalangism of 3rd finger (HP:0009426)

Patchy sclerosis of the distal phalanx of the 3rd finger (HP:0009425)

Curved distal phalanx of the 3rd finger (HP:0009428)

Triangular shaped distal phalanx of the 3rd finger (HP:0009427)

Abnormality of joint mobility (HP:0011729)

Aplasia/Hypoplasia of the phalanges of the 4th finger (HP:0009408)

Triangular shaped phalanges of the 4th finger (HP:0009407)

Chaotic multifocal atrial tachycardia (HP:0011725)

Persistent fetal circulation (HP:0011726)

Peroneal muscle weakness (HP:0011727)

Elbow clonus (HP:0011728)

Infracardiac total anomalous pulmonary venous connection (HP:0011721)

Elevated circulating 3-methylhistidine concentration (HP:0033157)

Mixed total anomalous pulmonary venous connection (HP:0011722)

Elevated urine L-alloisoleucine level (HP:0033156)

Congenital malformation of the right heart (HP:0011723)

Reduced urinary inosine level (HP:0033159)

Uhl's anomaly (HP:0011724)

Reduced respiratory ciliary beating frequency (HP:0033158)

Cardiac total anomalous pulmonary venous connection (HP:0011720)

Decreased urinary guanosine level (HP:0033160)

Abnormal urinary pyrimidine level (HP:0033162)

Abnormal urinary purine level (HP:0033161)

Focal active colitis (HP:0033164)

Small intestinal bacterial overgrowth (HP:0033163)

Recurrent viral upper respiratory tract infections (HP:0033166)

Necrotizing enterocolitis (HP:0033165)

Bracket epiphyses of the 3rd finger (HP:0009411)

Absent epiphyses of the 3rd finger (HP:0009410)

Enlarged epiphyses of the 3rd finger (HP:0009413)

Cone-shaped epiphyses of the 3rd finger (HP:0009412)

Irregular epiphyses of the 3rd finger (HP:0009415)

Fragmentation of the epiphyses of the 3rd finger (HP:0009414)

Pseudoepiphyses of the 3rd finger (HP:0009417)

Ivory epiphyses of the 3rd finger (HP:0009416)

Abnormality of the pulmonary veins (HP:0011718)

Supracardiac total anomalous pulmonary venous connection (HP:0011719)

Libman-Sacks lesions (HP:0011714)

Trifascicular block (HP:0011715)

Junctional ectopic tachycardia (HP:0011716)

Atrioventricular reentrant tachycardia (HP:0011717)

Bundle branch block (HP:0011710)

Reduced mevalonate kinase activity (HP:0033168)

Left anterior fascicular block (HP:0011711)

Neutrophilic urticarial dermatosis (HP:0033167)

Right bundle branch block (HP:0011712)

Left bundle branch block (HP:0011713)

Reduced total lung capacity (HP:0033169)

Abnormal triceps skinfold thickness (HP:0033171)

Abnormal skinfold thickness measurement (HP:0033170)

Milky appearance of bronchoalveolar lavage fluid (HP:0033173)

Increased triceps skinfold thickness (HP:0033172)

Elevated circulating 5-oxoproline concentration (HP:0033175)

Bloody bronchoalveolar lavage fluid (HP:0033174)

Elevated circulating suberic acid concentration (HP:0033177)

Submandibular lymph node enlargement (HP:0033176)

Pseudoepiphyses of the 4th finger (HP:0009400)

Stippling of the epiphyses of the 4th finger (HP:0009402)

Small epiphyses of the 4th finger (HP:0009401)

Broad phalanges of the 4th finger (HP:0009404)

Triangular epiphyses of the 4th finger (HP:0009403)

Patchy sclerosis of 4th finger phalanx (HP:0009406)

Bullet-shaped phalanges of the 4th finger (HP:0009405)

Thyroid agenesis (HP:0008191)

Primary gonadal insufficiency (HP:0008193)

Multiple pancreatic beta-cell adenomas (HP:0008194)

Absence of pubertal development (HP:0008197)

Congenital hypoparathyroidism (HP:0008198)

Patellar subluxation (HP:0010499)

Bipartite patella (HP:0010498)

Sirenomelia (HP:0010497)

Hypertrophy of the lower limb (HP:0010496)

Mildly elevated creatine kinase (HP:0008180)

Adrenocortical hypoplasia (HP:0008182)

Abetalipoproteinemia (HP:0008181)

Adrenocortical cytomegaly (HP:0008186)

Precocious puberty in males (HP:0008185)

Thyroid dysgenesis (HP:0008188)

Absence of secondary sex characteristics (HP:0008187)

Insulin insensitivity (HP:0008189)

Aplasia/Hypoplasia of the palmar creases (HP:0010488)

Small hypothenar eminence (HP:0010487)

Abnormality of the hypothenar eminence (HP:0010486)

Hyperextensibility at elbow (HP:0010485)

Absent palmar crease (HP:0010489)

Digital constriction ring (HP:0010491)

Abnormality of the palmar creases (HP:0010490)

Amniotic constriction rings of legs (HP:0010495)

Acromelia of the lower limbs (HP:0010494)

Long metacarpals (HP:0010493)

Neonatal unconjugated hyperbilirubinemia (HP:0008176)

Osseous finger syndactyly (HP:0010492)

Decreased Arden ratio of electrooculogram (HP:0008179)

Abnormal cartilage matrix (HP:0008178)

Aplasia of the bladder (HP:0010477)

Aplasia/Hypoplasia of the bladder (HP:0010476)

Cloacal exstrophy (HP:0010475)

Bladder stones (HP:0010474)

Patent urachus (HP:0010479)

Abnormality of the urachus (HP:0010478)

3-hydroxydicarboxylic aciduria (HP:0008160)

Urethral fistula (HP:0010480)

Enlarged epiphyses of the 2nd finger (HP:0009491)

Cone-shaped epiphyses of the 2nd finger (HP:0009490)

Asymptomatic hyperammonemia (HP:0008162)

Irregular epiphyses of the 2nd finger (HP:0009493)

Absent leukocyte alkaline phosphatase (HP:0008161)

Fragmentation of the epiphyses of the 2nd finger (HP:0009492)

Pseudoepiphysis of the 2nd finger (HP:0009495)

Hypertrophy of the upper limb (HP:0010484)

Decreased circulating cortisol level (HP:0008163)

Ivory epiphyses of the 2nd finger (HP:0009494)

Amniotic constriction rings of arms (HP:0010483)

Decreased beta-galactosidase activity (HP:0008166)

Stippling of the epiphyses of the 2nd finger (HP:0009497)

Acromelia of the upper limbs (HP:0010482)

Decreased helper T cell proportion (HP:0008165)

Small epiphyses of the 2nd finger (HP:0009496)

Urethral valve (HP:0010481)

Abnormality of the epiphysis of the distal phalanx of the 2nd finger (HP:0009499)

Very long chain fatty acid accumulation (HP:0008167)

Triangular epiphyses of the 2nd finger (HP:0009498)

Reduced factor VII activity (HP:0008169)

Renal oncocytoma (HP:0011798)

Abnormality of facial soft tissue (HP:0011799)

Precocious puberty in females (HP:0010465)

Streak ovary (HP:0010464)

Aplasia of the ovary (HP:0010463)

Embryonal renal neoplasm (HP:0011794)

Absent testis (HP:0010469)

Intralobar nephroblastomatosis (HP:0011795)

Aplasia/Hypoplasia of the testes (HP:0010468)

Perilobar nephroblastomatosis (HP:0011796)

Papillary renal cell carcinoma type 1 (HP:0011797)

Prolonged prothrombin time (HP:0008151)

Proximal/middle symphalangism of 3rd finger (HP:0009482)

Elevated serum transaminases during infections (HP:0008150)

Deviation of the hand or of fingers of the hand (HP:0009484)

Periodic hypokalemic paresis (HP:0008153)

Porphyrinuria (HP:0010473)

Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metacarpal (HP:0009483)

Abnormal circulating porphyrin concentration (HP:0010472)

Mucopolysacchariduria (HP:0008155)

Radial deviation of the hand (HP:0009486)

Oligosacchariduria (HP:0010471)

Radial deviation of the hand or of fingers of the hand (HP:0009485)

Supernumerary testes (HP:0010470)

Absent epiphyses of the 2nd finger (HP:0009488)

Ulnar deviation of the hand (HP:0009487)

Hyperapobetalipoproteinemia (HP:0008158)

Bracket epiphyses of the 2nd finger (HP:0009489)

Cardiac fibroma (HP:0010617)

Acute infectious pneumonia (HP:0011949)

Lung fibroma (HP:0010616)

Angiofibromas (HP:0010615)

Fibroma (HP:0010614)

Aplasia/Hypoplasia of the proximal phalanx of the thumb (HP:0009629)

Bronchiolitis obliterans organizing pneumonia (HP:0011945)

Bronchiolitis obliterans (HP:0011946)

Respiratory tract infection (HP:0011947)

Fibroadenoma of the breast (HP:0010619)

Ovarian fibroma (HP:0010618)

Recurrent acute respiratory tract infection (HP:0011948)

Anterior wedging of L2 (HP:0011941)

Increased urinary sulfite (HP:0011942)

Reduced circulating complement factor H related protein 1 concentration (HP:0033299)

Increased urinary thiosulfate (HP:0011943)

Small vessel vasculitis (HP:0011944)

Plantar pits (HP:0010612)

Palmar pits (HP:0010610)

Anterior wedging of T12 (HP:0011940)

Bullet-shaped proximal phalanx of the thumb (HP:0009631)

Broad proximal phalanx of the thumb (HP:0009630)

Osteolytic defect of the proximal phalanx of the thumb (HP:0009633)

Dermatan sulfate excretion in urine (HP:0008301)

Curved proximal phalanx of the thumb (HP:0009632)

Synostosis of thumb phalanx (HP:0009635)

Olivary degeneration (HP:0008303)

Patchy sclerosis of the proximal phalanx of the thumb (HP:0009634)

Abnormal iron deposition in mitochondria (HP:0008306)

Absent proximal phalanx of thumb (HP:0009637)

Exercise-induced myoglobinuria (HP:0008305)

Triangular shaped proximal phalanx of the thumb (HP:0009636)

Abnormality of the distal phalanx of the thumb (HP:0009617)

Hordeolum (HP:0010606)

Bifid first metacarpal (HP:0009616)

Chalazion (HP:0010605)

3-4 finger cutaneous syndactyly (HP:0011939)

Cyst of the eyelid (HP:0010604)

Abnormality of the proximal phalanx of the thumb (HP:0009618)

Odontogenic keratocysts of the jaw (HP:0010603)

Dilatation of mesenteric artery (HP:0011934)

Skin tags (HP:0010609)

Decreased urinary urate (HP:0011935)

Hordeolum internum (HP:0010608)

Decreased plasma total carnitine (HP:0011936)

Hordeolum externum (HP:0010607)

Hypoplastic fifth toenail (HP:0011937)

Hyperextensible skin of chest (HP:0011930)

Abnormal cerebellar peduncle morphology (HP:0011931)

Abnormal superior cerebellar peduncle morphology (HP:0011932)

Elongated superior cerebellar peduncle (HP:0011933)

Type 2 muscle fiber predominance (HP:0010602)

Abnormality of the proximal ulnar epiphysis (HP:0010601)

Abnormality of the distal ulnar epiphysis (HP:0010600)

obsolete Radial deviation of the thumb (HP:0009620)

Distally placed thumb (HP:0009622)

obsolete Ulnar deviation of the thumb (HP:0009621)

Contractures of the carpometacarpal joint of the thumb (HP:0009624)

Proximal placement of thumb (HP:0009623)

Contractures of the interphalangeal joint of the thumb (HP:0009626)

Contractures of the metacarpophalangeal joint of the thumb (HP:0009625)

Short digit (HP:0011927)

Complete duplication of distal phalanx of the thumb (HP:0009606)

Short proximal phalanx of toe (HP:0011928)

Complete duplication of proximal phalanx of the thumb (HP:0009608)

Hypersegmentation of proximal phalanx of third finger (HP:0011929)

Decreased activity of mitochondrial complex I (HP:0011923)

Duplication of the 1st metacarpal (HP:0009609)

Decreased activity of mitochondrial complex III (HP:0011924)

Decreased activity of mitochondrial ATP synthase complex (HP:0011925)

Proximal placement of hallux (HP:0011926)

Transudative pleural effusion (HP:0011920)

Exudative pleural effusion (HP:0011921)

Abnormal activity of mitochondrial respiratory chain (HP:0011922)

Bifid distal phalanx of the thumb (HP:0009611)

Duplication of the proximal phalanx of the thumb (HP:0009613)

Duplication of the distal phalanx of the thumb (HP:0009612)

Complete duplication of the first metacarpal (HP:0009615)

Bifid proximal phalanx of the thumb (HP:0009614)

Toe extensor amyotrophy (HP:0011916)

Short 5th toe (HP:0011917)

Clinodactyly of the 4th toe (HP:0011918)

Pleural empyema (HP:0011919)

Abnormality of the glenoid fossa (HP:0011912)

Lumbar hypertrichosis (HP:0011913)

Thoracic hypertrichosis (HP:0011914)

Cardiovascular calcification (HP:0011915)

Shortening of all phalanges of fingers (HP:0011910)

Abnormality of metacarpophalangeal joint (HP:0011911)

Flexion contracture of thumb (HP:0009600)

Abnormality of thumb phalanx (HP:0009602)

Aplasia/Hypoplasia of the thumb (HP:0009601)

Deviation of the thumb (HP:0009603)

Reduced hemoglobin A (HP:0011905)

Reduced beta/alpha synthesis ratio (HP:0011906)

Reduced alpha/beta synthesis ratio (HP:0011907)

Unilateral radial aplasia (HP:0011908)

Dysfibrinogenemia (HP:0011901)

Abnormal hemoglobin (HP:0011902)

HbH hemoglobin (HP:0011903)

Persistence of hemoglobin F (HP:0011904)

Hypofibrinogenemia (HP:0011900)

Flattened metacarpal heads (HP:0011909)

Glomerular hyalinosis away from the vascular and tubular poles (HP:0033219)

Intracranial cystic lesion (HP:0010576)

Abnormal total iron binding capacity (HP:0033212)

Dysplasia of the femoral head (HP:0010575)

Decreased total iron binding capacity (HP:0033211)

Abnormality of the epiphysis of the femoral head (HP:0010574)

Recurrent viral pneumonia (HP:0033214)

Elevated urine suberic acid level (HP:0033213)

Glomerular hyalinosis (HP:0033216)

Cone-shaped epiphysis (HP:0010579)

Obliterative abnormality of the renal glomerulus (HP:0033215)

Bracket epiphyses (HP:0010578)

Glomerular hyalinosis at the tubular pole (HP:0033218)

Absent epiphyses (HP:0010577)

Perihilar glomerular hyalinosis (HP:0033217)

Unilateral vestibular schwannoma (HP:0009590)

Pancreatic islet cell adenoma (HP:0008261)

Astrocytoma (HP:0009592)

Abnormality of the vestibulocochlear nerve (HP:0009591)

Thyroid defect in oxidation and organification of iodide (HP:0008263)

Ivory epiphyses (HP:0010583)

Retinal hamartoma (HP:0009594)

Irregular epiphyses (HP:0010582)

Peripheral Schwannoma (HP:0009593)

Mitochondrial lysine transport defect (HP:0008265)

Aplasia of the proximal phalanx of the 2nd finger (HP:0009596)

Increased CD4:CD8 ratio (HP:0033221)

Enlarged epiphyses (HP:0010580)

Neutrophil inclusion bodies (HP:0008264)

Occasional neurofibromas (HP:0009595)

2-ethylhydracylic aciduria (HP:0033220)

Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metacarpal (HP:0009598)

Short proximal phalanx of the 2nd finger (HP:0009597)

Increased red cell hemolysis by shear stress (HP:0008269)

Abnormality of thumb epiphysis (HP:0009599)

Aplasia/Hypoplasia of the Epiglottis (HP:0010565)

Neutrophilia (HP:0011897)

Abnormal glomerular parietal epithelial cell morphology (HP:0033223)

Bifid epiglottis (HP:0010564)

Abnormality of circulating fibrinogen (HP:0011898)

Decreased CD4:CD8 ratio (HP:0033222)

Hyperfibrinogenemia (HP:0011899)

Glomerular parietal epithelial cell hypertrophy (HP:0033225)

Keloids (HP:0010562)

Glomerular parietal epithelial cell hyperplasia (HP:0033224)

Abnormal leukocyte count (HP:0011893)

Elevated 7-dehydrocholesterol (HP:0010569)

Glomerular synechial adhesion (HP:0033227)

Hamartoma of the eye (HP:0010568)

Impaired thromboxane A2 agonist-induced platelet aggregation (HP:0011894)

Bowman capsular hyaline drops (HP:0033226)

Anemia due to reduced life span of red cells (HP:0011895)

Y-shaped metatarsals (HP:0010567)

Brachioradialis areflexia (HP:0033229)

Hamartoma (HP:0010566)

Subconjunctival hemorrhage (HP:0011896)

Triceps areflexia (HP:0033228)

Infantile hypercalcemia (HP:0008250)

Broad proximal phalanx of the 2nd finger (HP:0009581)

Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger (HP:0009580)

Curved proximal phalanx of the 2nd finger (HP:0009583)

Biceps areflexia (HP:0033230)

Congenital goiter (HP:0008251)

Bullet-shaped proximal phalanx of the 2nd finger (HP:0009582)

Elevated levels of phytanic acid (HP:0010571)

Patchy sclerosis of the proximal phalanx of the 2nd finger (HP:0009585)

Low maternal serum alpha-fetoprotein (HP:0010570)

Abnormal glomerular mesangial matrix morphology (HP:0033232)

Osteolytic defects of the proximal phalanx of the 2nd finger (HP:0009584)

Abnormal glomerular mesangial cellularity (HP:0033231)

Adrenocortical adenoma (HP:0008256)

Triangular shaped proximal phalanx of the 2nd finger (HP:0009587)

Transient neonatal diabetes mellitus (HP:0008255)

Symphalangism affecting the proximal phalanx of the 2nd finger (HP:0009586)

Congenital adrenal hyperplasia (HP:0008258)

Bilateral vestibular schwannoma (HP:0009589)

Vestibular schwannoma (HP:0009588)

Adrenocorticotropin receptor defect (HP:0008259)

Vertical clivus (HP:0010559)

Cutaneous finger syndactyly (HP:0010554)

Hyphema (HP:0011886)

Mesangial hyaline deposition (HP:0033234)

Oculogyric crisis (HP:0010553)

Choroid hemorrhage (HP:0011887)

Paramesangial deposits (HP:0033233)

Bleeding requiring red cell transfusion (HP:0011888)

Cognitive fatigue (HP:0033236)

Paraplegia/paraparesis (HP:0010551)

Bleeding with minor or no trauma (HP:0011889)

Difficulty descending stairs (HP:0033235)

Abnormality of the clivus (HP:0010558)

Decreased platelet P2Y12 receptor (HP:0011882)

Podocyte microvillous transformation (HP:0033238)

Overlapping fingers (HP:0010557)

Abnormal platelet granules (HP:0011883)

Visceral epithelial cell detachment (HP:0033237)

Abnormal umbilical stump bleeding (HP:0011884)

Hemorrhage of the eye (HP:0011885)

Visceral epithelial cell capping (HP:0033239)

Prolonged bleeding following procedure (HP:0011890)

Bullet-shaped middle phalanx of the 2nd finger (HP:0009570)

Post-partum hemorrhage (HP:0011891)

Low levels of vitamin K (HP:0011892)

Osteolytic defects of the middle phalanx of the 2nd finger (HP:0009572)

Undulate ribs (HP:0010561)

Polyalveolar lobe (HP:0033241)

Secondary growth hormone deficiency (HP:0008240)

Curved middle phalanx of the 2nd finger (HP:0009571)

Undulate clavicles (HP:0010560)

Elevated RV/TLC ratio (HP:0033240)

Symphalangism of middle phalanx of 2nd finger (HP:0009574)

Pulmonary necrosis (HP:0033243)

Pseudohypoaldosteronism (HP:0008242)

Patchy sclerosis of the middle phalanx of the 2nd finger (HP:0009573)

Horseshoe lung (HP:0033242)

Pituitary hypothyroidism (HP:0008245)

Absent middle phalanx of 2nd finger (HP:0009576)

Congenital adrenal hypoplasia (HP:0008244)

Triangular shaped middle phalanx of the 2nd finger (HP:0009575)

Euthyroid hyperthyroxinemia (HP:0008247)

Short middle phalanx of the 2nd finger (HP:0009577)

Thyroid hyperplasia (HP:0008249)

Proximal/middle symphalangism of the 2nd finger (HP:0009579)

Weakness due to upper motor neuron dysfunction (HP:0010549)

Percussion myotonia (HP:0010548)

Decreased platelet glycoprotein Ib-IX-V (HP:0011879)

Opsoclonus (HP:0010543)

Abnormal platelet morphology (HP:0011875)

Abnormal alveolar type II pneumocyte morphology (HP:0033245)

Abnormal platelet volume (HP:0011876)

Vestibular nystagmus (HP:0010542)

Glycogen accumulation in pulmonary interstitial cells (HP:0033244)

Increased mean platelet volume (HP:0011877)

Cutis gyrata of scalp (HP:0010541)

Pulmonary amyloidosis (HP:0033247)

Abnormal platelet membrane protein expression (HP:0011878)

Advanced pneumatization of cranial sinuses (HP:0010540)

Type II pneumocyte hypertrophy (HP:0033246)

Muscle flaccidity (HP:0010547)

Impaired ristocetin-induced platelet aggregation (HP:0011871)

Focal substantia nigra T2 hyperintensity (HP:0033249)

Muscle fibrillation (HP:0010546)

Impaired thrombin-induced platelet aggregation (HP:0011872)

Multiple pulmonary interstitial hyalinized nodules (HP:0033248)

Abnormal platelet count (HP:0011873)

Downbeat nystagmus (HP:0010545)

Vertical nystagmus (HP:0010544)

Heparin-induced thrombocytopenia (HP:0011874)

Acute disseminated intravascular coagulation (HP:0011880)

Nailfold capillary tortuosity (HP:0033250)

Decreased platelet glycoprotein VI (HP:0011881)

Paraplegia (HP:0010550)

obsolete Decreased testosterone in males (HP:0008230)

Osteolytic defects of the distal phalanx of the 2nd finger (HP:0009561)

Palmar hyperlinearity (HP:0033252)

Curved distal phalanx of the 2nd finger (HP:0009560)

Elevated residual volume (HP:0033251)

Elevated circulating follicle stimulating hormone level (HP:0008232)

Distal/middle symphalangism of 2nd finger (HP:0009563)

Anorectal stricture (HP:0033254)

Macronodular adrenal hyperplasia (HP:0008231)

Patchy sclerosis of the distal phalanx of the 2nd finger (HP:0009562)

Reduced circulating interferon gamma (HP:0033253)

Aplasia of the distal phalanx of the 2nd finger (HP:0009565)

Decreased circulating progesterone (HP:0008233)

Triangular shaped distal phalanx of the 2nd finger (HP:0009564)

Isosexual precocious puberty (HP:0008236)

Short distal phalanx of the 2nd finger (HP:0009566)

Broad middle phalanx of the 2nd finger (HP:0009569)

Hypothalamic hypothyroidism (HP:0008237)

Aplasia/Hypoplasia of the middle phalanx of the 2nd finger (HP:0009568)

Adrenal medullary hypoplasia (HP:0008239)

Thin calvarium (HP:0010539)

Small sella turcica (HP:0010538)

Wide cranial sutures (HP:0010537)

Sciatica (HP:0011868)

Abnormal platelet function (HP:0011869)

Paroxysmal vertigo (HP:0010532)

Elevated plasma pyrophosphate (HP:0011864)

Pancolitis (HP:0033256)

Spinal myoclonus (HP:0010531)

Congenital lobar overinflation (HP:0033255)

Palatal myoclonus (HP:0010530)

Sudden unexpected death in epilepsy (HP:0033258)

Abnormal iliac wing morphology (HP:0011867)

Delayed ability to walk with support (HP:0033257)

Central sleep apnea (HP:0010536)

Metaphyseal dappling (HP:0011860)

Non-motor seizure (HP:0033259)

Sleep apnea (HP:0010535)

Bilateral trilobed lungs (HP:0011861)

Abnormal bone collagen fibril morphology (HP:0011862)

Transient global amnesia (HP:0010534)

Abnormal sternal ossification (HP:0011863)

Spasmus nutans (HP:0010533)

Renal artery aneurysm (HP:0033261)

Impaired arachidonic acid-induced platelet aggregation (HP:0011870)

Livedo racemosa (HP:0033260)

Osteolytic defects of the phalanges of the 2nd finger (HP:0009550)

Absent platelet dense granules (HP:0033263)

Transphyseal fracture of the distal humerus (HP:0033262)

Adrenal hyperplasia (HP:0008221)

Aplasia/Hypoplasia of the phalanges of the 2nd finger (HP:0009552)

Podocyte myelin figures (HP:0033265)

Patchy sclerosis of 2nd finger phalanx (HP:0009551)

Enlarged platelet dense granules (HP:0033264)

Compensated hypothyroidism (HP:0008223)

Preauricular hair displacement (HP:0009554)

Abnormality of the hairline (HP:0009553)

Female infertility (HP:0008222)

Thyroid follicular hyperplasia (HP:0008225)

Absent tibia (HP:0009556)

Hypoplasia of the pharynx (HP:0009555)

Pituitary resistance to thyroid hormone (HP:0008227)

Broad distal phalanx of the 2nd finger (HP:0009558)

Androgen insufficiency (HP:0008226)

Aplasia/Hypoplasia of the distal phalanx of the 2nd finger (HP:0009557)

Thyroid lymphangiectasia (HP:0008229)

Bullet-shaped distal phalanx of the 2nd finger (HP:0009559)

Premature ovarian insufficiency (HP:0008209)

Echolalia (HP:0010529)

Parathyroid hyperplasia (HP:0008208)

Contracture of the metacarpophalangeal joint of the 2nd finger (HP:0009539)

Prosopagnosia (HP:0010528)

Astereognosia (HP:0010527)

Dysgraphia (HP:0010526)

Plasmacytoma (HP:0011857)

Reduced factor IX activity (HP:0011858)

Punctate keratitis (HP:0011859)

Gait apraxia (HP:0010521)

Serous pericardial effusion (HP:0011853)

Abnormal glomerular capillary lumen morphology (HP:0033267)

Hemoperitoneum (HP:0011854)

Glomerular pseudocrescent (HP:0033266)

Pharyngeal edema (HP:0011855)

Glomerular capillary collapse (HP:0033269)

Pica (HP:0011856)

Deflation of the glomerular tuft (HP:0033268)

Finger agnosia (HP:0010525)

Agnosia (HP:0010524)

Parotitis (HP:0011850)

Alexia (HP:0010523)

Hemopericardium (HP:0011851)

Dyslexia (HP:0010522)

Chylopericardium (HP:0011852)

Glomerular capillary congestion (HP:0033270)

Abnormal glomerular endothelial cell morphology (HP:0033272)

Glomerular capillary microaneurysm (HP:0033271)

Glomerular endotheliosis (HP:0033274)

Loss of glomerular endothelial cell fenestration (HP:0033273)

Abnormality of the phalanges of the 2nd finger (HP:0009541)

obsolete Glomerular endocapillary hypercellularity (HP:0033276)

Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)

Glomerular endothelial tubuloreticular inclusion (HP:0033275)

Abnormality of the middle phalanx of the 2nd finger (HP:0009543)

Parathyroid agenesis (HP:0008211)

Abnormality of the distal phalanx of the 2nd finger (HP:0009542)

Decreased serum estradiol (HP:0008214)

Symphalangism of the 2nd finger (HP:0009545)

Abnormality of the proximal phalanx of the 2nd finger (HP:0009544)

Gonadotropin deficiency (HP:0008213)

Adrenal gland dysgenesis (HP:0008216)

Broad phalanges of the 2nd finger (HP:0009547)

Triangular shaped phalanges of the 2nd finger (HP:0009546)

Curved phalanges of the 2nd finger (HP:0009549)

Bullet-shaped phalanges of the 2nd finger (HP:0009548)

Irregular epiphysis of the proximal phalanx of the 2nd finger (HP:0009529)

Thyroglossal cyst (HP:0010518)

Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009528)

Ectopic thymus tissue (HP:0010517)

Thymus hyperplasia (HP:0010516)

Aplasia/Hypoplasia of the thymus (HP:0010515)

Osteoblastoma (HP:0011846)

Giant cell tumor of bone (HP:0011847)

Abdominal colic (HP:0011848)

Abnormal bone ossification (HP:0011849)

Increased fetal movement (HP:0010519)

Abnormal skeletal morphology (HP:0011842)

Hypermobility of toe joints (HP:0010510)

Reduced CD95-induced lymphocyte apoptosis (HP:0033278)

Abnormality of musculoskeletal physiology (HP:0011843)

Glomerular fibrinoid necrosis (HP:0033277)

Abnormal appendicular skeleton morphology (HP:0011844)

Short second metatarsal (HP:0011845)

Enterocutaneous fistula (HP:0033279)

Hyperpituitarism (HP:0010514)

Pituitary calcification (HP:0010513)

Abnormality of T cell physiology (HP:0011840)

Adrenal calcification (HP:0010512)

Long toe (HP:0010511)

Ventricular flutter (HP:0011841)

Circulating nucleated red blood cells (HP:0033281)

Paratracheal lymphadenopathy (HP:0033280)

Segmentally thickened glomerular basement membrane (HP:0033283)

Abnormal glomerular basement membrane morphology (HP:0033282)

Thickened glomerular basement membranes with no electron dense deposits (HP:0033285)

Diffusely thickened glomerular basement membrane (HP:0033284)

Ivory epiphysis of the proximal phalanx of the 2nd finger (HP:0009530)

Glomerular basement membrane lucencies (HP:0033287)

Thickened glomerular basement membranes with electron dense deposits (HP:0033286)

Small epiphysis of the proximal phalanx of the 2nd finger (HP:0009532)

Primary hyperparathyroidism (HP:0008200)

Pseudoepiphysis of the proximal phalanx of the 2nd finger (HP:0009531)

Triangular epiphysis of the proximal phalanx of the 2nd finger (HP:0009534)

Reduced circulating prolactin concentration (HP:0008202)

Stippling of the epiphysis of the proximal phalanx of the 2nd finger (HP:0009533)

Insulin-dependent but ketosis-resistant diabetes (HP:0008205)

Short 2nd finger (HP:0009536)

Precocious puberty with Sertoli cell tumor (HP:0008204)

Aplasia of the 2nd finger (HP:0009535)

Primary adrenal insufficiency (HP:0008207)

Contracture of the distal interphalangeal joint of the 2nd finger (HP:0009538)

Flexion contracture of the 2nd finger (HP:0009537)

Abnormal T cell count (HP:0011839)

Irregular epiphysis of the middle phalanx of the 2nd finger (HP:0009518)

Foot asymmetry (HP:0010507)

Fragmentation of the epiphysis of the middle phalanx of the 2nd finger (HP:0009517)

Abnormal plantar dermatoglyphics (HP:0010506)

Limitation of movement at ankles (HP:0010505)

Ivory epiphysis of the middle phalanx of the 2nd finger (HP:0009519)

Increased length of the tibia (HP:0010504)

Absent scaphoid (HP:0011835)

Delayed talus ossification (HP:0011836)

Aplasia of the tarsal bones (HP:0010509)

Partial IgA deficiency (HP:0011837)

Metatarsus valgus (HP:0010508)

Sclerodactyly (HP:0011838)

Deviated nasal tip (HP:0011831)

Glomerular basement membrane wrinkling (HP:0033289)

Narrow nasal tip (HP:0011832)

Glomerular basement membrane spikes (HP:0033288)

Overhanging nasal tip (HP:0011833)

Moyamoya phenomenon (HP:0011834)

Fibular duplication (HP:0010503)

Fibular bowing (HP:0010502)

Limitation of knee mobility (HP:0010501)

Abnormal oral mucosa morphology (HP:0011830)

Hyperextensibility of the knee (HP:0010500)

Glomerular fibrin thrombus (HP:0033292)

Glomerular karyhorrhectic debris (HP:0033291)

Glomerular lipoprotein thrombus (HP:0033294)

Glomerular hyaline pseudothrombus (HP:0033293)

Binucleated visceral epithelial cells (HP:0033296)

Mesangial Immune complex deposition (HP:0033295)

Abnormal circulating complement factor H related protein 1 concentration (HP:0033298)

Multinucleated visceral epithelial cells (HP:0033297)

Small epiphysis of the middle phalanx of the 2nd finger (HP:0009521)

Pseudoepiphysis of the middle phalanx of the 2nd finger (HP:0009520)

Triangular epiphysis of the middle phalanx of the 2nd finger (HP:0009523)

Stippling of the epiphysis of the middle phalanx of the 2nd finger (HP:0009522)

Bracket epiphysis of the proximal phalanx of the 2nd finger (HP:0009525)

Absent epiphysis of the proximal phalanx of the 2nd finger (HP:0009524)

Enlarged epiphysis of the proximal phalanx of the 2nd finger (HP:0009527)

Glomerular subendothelial widening (HP:0033290)

Cone-shaped epiphysis of the proximal phalanx of the 2nd finger (HP:0009526)

Partial complement factor H deficiency (HP:0008290)

Pituitary corticotropic cell adenoma (HP:0008291)

Long-chain dicarboxylic aciduria (HP:0008293)

Transient hyperphenylalaninemia (HP:0008297)

Abnormality of the proximal humeral epiphysis (HP:0010598)

Abnormality of the distal radial epiphysis (HP:0010597)

Abnormality of the proximal radial epiphysis (HP:0010596)

Abnormality of the distal fibular epiphysis (HP:0010595)

Abnormality of the distal humeral epiphysis (HP:0010599)

Acute hyperammonemia (HP:0008281)

Bradypnea (HP:0046507)

Abnormal cervical spine morphology (HP:0046508)

Fasting hyperinsulinemia (HP:0008283)

Unconjugated hyperbilirubinemia (HP:0008282)

Transient hypophosphatemia (HP:0008285)

Nonketotic hyperglycinemia (HP:0008288)

Anorgasmia (HP:0046502)

Increased libido (HP:0046503)

Decreased libido (HP:0046504)

Hand pain (HP:0046505)

Pain in head and neck region (HP:0046506)

Acinar dysplasia (HP:0033209)

Alveolar capillary dysplasia (HP:0033208)

Triangular epiphyses (HP:0010587)

Biceps hyporeflexia (HP:0033201)

Triceps hyporeflexia (HP:0033200)

Small epiphyses (HP:0010585)

Brachioradialis hyperreflexia (HP:0033203)

Pseudoepiphyses (HP:0010584)

Brachioradialis hyporeflexia (HP:0033202)

Biceps hyperreflexia (HP:0033205)

Triceps hyperreflexia (HP:0033204)

Increased proportion autoreactive unresponsive CD21-/low B cells (HP:0033207)

Premature epimetaphyseal fusion (HP:0010588)

Hyperactive Achilles reflex (HP:0033206)

Abnormality of the distal femoral epiphysis (HP:0010590)

Renal tubular lysine transport defect (HP:0008272)

Abnormal cartilage collagen (HP:0008271)

Abnormality of the proximal fibular epiphysis (HP:0010594)

Transient aminoaciduria (HP:0008273)

Abnormality of fibular epiphyses (HP:0010593)

Abnormality of the distal tibial epiphysis (HP:0010592)

Congenital alveolar dysplasia (HP:0033210)

Abnormality of the proximal tibial epiphysis (HP:0010591)

Abnormal light-adapted electroretinogram (HP:0008275)

Cerebellar cortical atrophy (HP:0008278)

Abnormal blood zinc concentration (HP:0008277)

Transient hyperlipidemia (HP:0008279)

Absent/shortened outer dynein arms (HP:0200109)

Shortened outer dynein arms (HP:0200108)

Shortened inner dynein arms (HP:0200107)

Absent/shortened dynein arms (HP:0200106)

Absent fifth toenail (HP:0200105)

Absent fifth fingernail (HP:0200104)

Aphalangy of hands and feet (HP:0200113)

Absent stapes head (HP:0200111)

Acute hepatitis (HP:0200119)

Malabsorption of Vitamin B12 (HP:0200118)

Recurrent upper and lower respiratory tract infections (HP:0200117)

Distal ileal atresia (HP:0200116)

Metabolic alkalosis (HP:0200114)

Chronic hepatitis due to cryptosporidium infection (HP:0200124)

Chronic hepatitis (HP:0200123)

Atypical or prolonged hepatitis (HP:0200122)

Chronic active hepatitis (HP:0200120)

Sparse or absent eyelashes (HP:0200102)

Decreased/absent ankle reflexes (HP:0200101)

Squared-off platyspondyly (HP:0008418)

Vertebral hypoplasia (HP:0008417)

Large earlobe (HP:0009748)

Monostotic fibrous dysplasia (HP:0010736)

Intervertebral disc degeneration (HP:0008419)

Polyostotic fibrous dysplasia (HP:0010735)

CSF lymphocytic pleiocytosis (HP:0200149)

Abnormal liver function tests during pregnancy (HP:0200148)

Osteopoikilosis (HP:0010739)

Neuronal loss in basal ganglia (HP:0200147)

Double eyebrow (HP:0010730)

Aortic medial fibrosis (HP:0032089)

Fibrous dysplasia of the bones (HP:0010734)

Naevus flammeus of the eyelid (HP:0010733)

Nodular changes affecting the eyelids (HP:0010732)

Extension of eyebrows towards upper eyelid (HP:0010731)

Left ventricular outflow tract obstruction (HP:0032092)

Increased circulating surfactant protein level (HP:0032094)

Abnormal manganese concentration (HP:0032096)

Anti-P/Q-type VGCC antibody positivity (HP:5000027)

Hypermanganesemia (HP:0032097)

Anti-MAP1B antibody (HP:5000028)

Hypomanganesemia (HP:0032098)

Anti-PKCgamma antibody (HP:5000029)

Perioral radial furrowing (HP:0032099)

Tall lumbar vertebral bodies (HP:0008421)

Cleft in skull base (HP:0009752)

Anti-Ma1 antibody positivity (HP:5000023)

Punctate vertebral calcifications (HP:0008420)

Aplasia of the pectoralis major muscle (HP:0009751)

Anti-mGluR1 antibody (HP:5000024)

Spinal dysplasia (HP:0008423)

Fibrous syngnathia (HP:0009754)

Anti-mGluR5 antibody (HP:5000025)

Vertebral wedging (HP:0008422)

Agenesis of mandibular lateral incisor (HP:0200154)

Anti-neurexin-3alpha antibody (HP:5000026)

Agenesis of lateral incisor (HP:0200153)

Cuboid-shaped thoracolumbar vertebral bodies (HP:0008425)

Popliteal pterygium (HP:0009756)

Hypoplastic 5th lumbar vertebrae (HP:0008424)

Ankyloblepharon (HP:0009755)

Anti-LGI1 antibody (HP:5000020)

Pyramidal skinfold extending from the base to the top of the nails (HP:0009758)

Intralamellar aortic medial fibrosis (HP:0032090)

Cutaneous mastocytosis (HP:0200151)

Anti-Ma antibody positivity (HP:5000021)

Intercrural pterygium (HP:0009757)

Translamellar aortic medial fibrosis (HP:0032091)

Increased serum bile acid concentration during pregnancy (HP:0200150)

Anti-Ma2 antibody positivity (HP:5000022)

Abnormal antihelix morphology (HP:0009738)

Hyperconvex thumb nails (HP:0008407)

Spontaneous rupture of the globe (HP:0010727)

Lisch nodules (HP:0009737)

Prominent corneal nerve fibers (HP:0010726)

Hypoplasia of the antihelix (HP:0009739)

Advanced pneumatization of the mastoid process (HP:0010724)

Cherry red spot of the macula (HP:0010729)

Agenesis of primary mandibular lateral incisor (HP:0200159)

Aplasia of the retina (HP:0010728)

Agenesis of permanent mandibular lateral incisor (HP:0200158)

Cystic lesions of the pinnae (HP:0010723)

Asymmetry of the ears (HP:0010722)

Abnormal hair whorl (HP:0010721)

Abnormal hair pattern (HP:0010720)

Agenesis of maxillary incisor (HP:0200160)

Anti-titin antibody positivity (HP:5000038)

Anti-Zic4 antibody positivity (HP:5000039)

Subungual hyperkeratotic fragments (HP:0008410)

Nephrosclerosis (HP:0009741)

Anti-Tr/DNER antibody (HP:5000034)

Aplasia of the parotid gland (HP:0009740)

Anti-TRIM46 antibody (HP:5000035)

Distichiasis (HP:0009743)

Anti-TRIM9/TRIM67 antibody (HP:5000036)

Stiff shoulders (HP:0009742)

Anti-Yo antibody positivity (HP:5000037)

Lumbar kyphosis in infancy (HP:0008414)

Spinal arachnoid cyst (HP:0009745)

Anti-Ri antibody (HP:5000030)

Abnormal spinal dura mater morphology (HP:0009744)

Anti-Septin-5 antibody (HP:5000031)

Six lumbar vertebrae (HP:0008416)

Lumbosacral hirsutism (HP:0009747)

Anti-SEZ6L2 antibody (HP:5000032)

Agenesis of mandibular incisor (HP:0200161)

Thick nasal septum (HP:0009746)

Anti-SOX1 antibody (HP:5000033)

Achromatic retinal patches (HP:0009727)

3-5 toe syndactyly (HP:0010716)

Renal neoplasm (HP:0009726)

2-5 toe syndactyly (HP:0010715)

Cardiac rhabdomyoma (HP:0009729)

2-4 toe syndactyly (HP:0010714)

Neoplasm of striated muscle (HP:0009728)

1-5 toe syndactyly (HP:0010713)

obsolete Calcific mitral stenosis (HP:0200129)

Biventricular hypertrophy (HP:0200128)

Abnormality of hair texture (HP:0010719)

Atrial cardiomyopathy (HP:0200127)

obsolete Amyloid cardiomyopathy (HP:0200126)

Osseous syndactyly of toes (HP:0010717)

Mitochondrial respiratory chain defects (HP:0200125)

1-4 toe syndactyly (HP:0010712)

1-2 toe syndactyly (HP:0010711)

3-5 finger syndactyly (HP:0010710)

Anti-GABA(A)R antibody (HP:5000009)

Anti-CASPR2 (HP:5000005)

Anti-CV2/CRMP5 antibody (HP:5000006)

Anti-DPPX antibody (HP:5000007)

Anti-FGFR3 antibody positivity (HP:5000008)

Rhabdomyoma (HP:0009730)

obsolete Macrocephaly due to hydrocephalus (HP:0200135)

Anti-AMPAR antibody positivity (HP:5000001)

Epileptic encephalopathy (HP:0200134)

Anti-Amphiphysin antibody (HP:5000002)

Onychogryposis of toenails (HP:0008401)

Plexiform neurofibroma (HP:0009732)

Lumbosacral meningocele (HP:0200133)

Anti-ARHGAP26 antibody (HP:5000003)

Cerebral hamartoma (HP:0009731)

Onycholysis of distal fingernails (HP:0008400)

Anti-CARP VIII antibody (HP:5000004)

Optic nerve glioma (HP:0009734)

Glioma (HP:0009733)

Ridged fingernail (HP:0008402)

Tibial pseudarthrosis (HP:0009736)

Nail dystrophy (HP:0008404)

Spinal neurofibromas (HP:0009735)

Anti-AK5 antibody positivity (HP:5000000)

Subependymal nodules (HP:0009716)

4-5 finger syndactyly (HP:0010705)

Papillary cystadenoma of the epididymis (HP:0009715)

1-2 finger syndactyly (HP:0010704)

Subependymal giant-cell astrocytoma (HP:0009718)

Increased circulating antibody level (HP:0010702)

Cortical tubers (HP:0009717)

2-4 finger syndactyly (HP:0010709)

Hypomelanotic macule (HP:0009719)

1-5 finger syndactyly (HP:0010708)

Bilateral choanal atresia/stenosis (HP:0200138)

1-4 finger syndactyly (HP:0010707)

1-3 finger syndactyly (HP:0010706)

Oral-pharyngeal dysphagia (HP:0200136)

Abnormal immunoglobulin level (HP:0010701)

obsolete Total cataract (HP:0010700)

Anti-Hu antibody positivity (HP:5000016)

Anti-Iglon5 antibody (HP:5000017)

Anti-ITPR1 antibody (HP:5000018)

Anti-Kelch like protein 11 antibody positivity (HP:5000019)

Mucoid extracellular matrix accumulation (HP:0200146)

Anti-Gephyrin antibody (HP:5000012)

Anti-GFAP antibody (HP:5000013)

Shagreen patch (HP:0009721)

obsolete Anaphylactoid purpura (HP:0200144)

Anti-GlyR antibody (HP:5000014)

Adenoma sebaceum (HP:0009720)

Megaloblastic erythroid hyperplasia (HP:0200143)

Anti-Homer-3 antibody (HP:5000015)

Abnormality of the subungual region (HP:0009723)

Dental enamel pits (HP:0009722)

Small, conical teeth (HP:0200141)

Bladder neoplasm (HP:0009725)

Anti-GABA(B)R antibody (HP:5000010)

Subungual fibromas (HP:0009724)

ID

Description

Link

Keywords

Versions (1)

Copyright Holder

Uploaded on

DOI

License

Model comments :

Itemgroup comments for :

Item comments for :

HPO Terms codelist

Form HPO Terms

Description

Description

Data type