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HPO Terms Form

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  1. StudyEvent: HPO Terms StudyEvent
    1. HPO Terms Form
HPO Terms Group HP:0000005 Mode of inheritance
Descrição

HPO Terms Group HP:0000005 Mode of inheritance

Autosomal dominant inheritance
Descrição

"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]

Tipo de dados

boolean

Alias
SNOMEDCT_US
263681008
UMLS CUI[1,1]
C0443147
HPO
0000006
Autosomal recessive inheritance
Descrição

"A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:probinson]

Tipo de dados

boolean

Alias
SNOMEDCT_US
258211005
UMLS CUI [1,1]
C0441748
UMLS CUI [2,1]
C4020899
HPO
0000007
Multifactorial inheritance
Descrição

"A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [HPO:probinson]

Tipo de dados

boolean

Alias
MSH
D020412
UMLS CUI[1,1]
C0600599
HPO
0001426
Somatic mutation
Descrição

"A mode of inheritance in which a trait or disorder results from a de novo mutation occurring after conception, rather than being inherited from a preceding generation." []

Tipo de dados

boolean

Alias
SNOMEDCT_US
124975008
UMLS CUI[1,1]
C0544886
HPO
0001428
Contiguous gene syndrome
Descrição

Contiguous gene syndrome

Tipo de dados

boolean

Alias
UMLS CUI[1,1]
C1855496
HPO
0001466
Genetic anticipation
Descrição

"A mode of inheritance in which the severity of a disorder increases or the age of onset decreases as the disorder is passed from one generation to the next." [HPO:probinson]

Tipo de dados

boolean

Alias
MSH
D020132
UMLS CUI[1,1]
C0600498
HPO
0003743
Gonosomal inheritance
Descrição

"A mode of inheritance that is observed for traits related to a gene encoded on the sex chromosomes." [HPO:probinson]

Tipo de dados

boolean

Alias
UMLS CUI[1,1]
C4023613
HPO
0010985
Uniparental disomy
Descrição

"Inheritance of both homologues of a chromosome pair from the same parent." []

Tipo de dados

boolean

Alias
HPO
0032382
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Similar models

HPO Terms Form

1 Formulários
  1. StudyEvent: HPO Terms StudyEvent
    1. HPO Terms Form
Name
Tipo
Description | Question | Decode (Coded Value)
Tipo de dados
Alias
Item
Autosomal dominant inheritance
boolean
263681008 (SNOMEDCT_US)
C0443147 (UMLS CUI[1,1])
0000006 (HPO)
CL.HP:0000006
Code List
Autosomal dominant inheritance
CL Item
Autosomal dominant inheritance with maternal imprinting (HP:0012275)
C4022975 (UMLS CUI[1,1])
CL Item
Autosomal dominant germline de novo mutation (HP:0025352)
CL Item
Autosomal dominant inheritance with paternal imprinting (HP:0012274)
C4022976 (UMLS CUI[1,1])
CL Item
Autosomal dominant contiguous gene syndrome (HP:0001452)
C4025777 (UMLS CUI[1,1])
CL Item
Sex-limited autosomal dominant (HP:0001470)
C4025767 (UMLS CUI[1,1])
CL Item
Autosomal dominant somatic cell mutation (HP:0001444)
C4025781 (UMLS CUI[1,1])
CL Item
Male-limited autosomal dominant (HP:0001475)
C4025764 (UMLS CUI[1,1])
Item
Autosomal recessive inheritance
boolean
258211005 (SNOMEDCT_US)
C0441748 (UMLS CUI [1,1])
C4020899 (UMLS CUI [2,1])
0000007 (HPO)
CL.HP:0000007
Code List
Autosomal recessive inheritance
CL Item
Sex-limited autosomal recessive inheritance (HP:0031362)
Item
Multifactorial inheritance
boolean
D020412 (MSH)
C0600599 (UMLS CUI[1,1])
0001426 (HPO)
CL.HP:0001426
Code List
Multifactorial inheritance
CL Item
Digenic inheritance (HP:0010984)
C4023614 (UMLS CUI[1,1])
CL Item
Polygenic inheritance (HP:0010982)
D020412 (MSH)
C1148552 (UMLS CUI[1,1])
CL Item
Oligogenic inheritance (HP:0010983)
D020412 (MSH)
C1136026 (UMLS CUI[1,1])
Item
Somatic mutation
boolean
124975008 (SNOMEDCT_US)
C0544886 (UMLS CUI[1,1])
0001428 (HPO)
CL.HP:0001428
Code List
Somatic mutation
CL Item
Somatic mosaicism (HP:0001442)
C1866227 (UMLS CUI[1,1])
Item
Contiguous gene syndrome
boolean
C1855496 (UMLS CUI[1,1])
0001466 (HPO)
CL.HP:0001466
Code List
Contiguous gene syndrome
CL Item
Autosomal dominant contiguous gene syndrome (HP:0001452)
C4025777 (UMLS CUI[1,1])
Item
Genetic anticipation
boolean
D020132 (MSH)
C0600498 (UMLS CUI[1,1])
0003743 (HPO)
CL.HP:0003743
Code List
Genetic anticipation
CL Item
Genetic anticipation with paternal anticipation bias (HP:0003744)
C1834002 (UMLS CUI [1,1])
C4025574 (UMLS CUI [2,1])
Item
Gonosomal inheritance
boolean
C4023613 (UMLS CUI[1,1])
0010985 (HPO)
CL.HP:0010985
Code List
Gonosomal inheritance
CL Item
X-linked dominant inheritance (HP:0001423)
C1847879 (UMLS CUI[1,1])
CL Item
X-linked recessive inheritance (HP:0001419)
C1845977 (UMLS CUI[1,1])
CL Item
X-linked inheritance (HP:0001417)
D050172 (MSH)
263934009 (SNOMEDCT_US)
C0241764 (UMLS CUI[1,1])
CL Item
Y-linked inheritance (HP:0001450)
D050173 (MSH)
C0814045 (UMLS CUI[1,1])
Item
Uniparental disomy
boolean
0032382 (HPO)
CL.HP:0032382
Code List
Uniparental disomy
CL Item
Uniparental heterodisomy (HP:0032383)
CL Item
Uniparental isodisomy (HP:0032384)
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