Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Inclusion:
Item
Inclusion:
boolean
C1512693 (UMLS CUI [1,1])
Whole exome sequencing: Patients with arhinia and available family members
Item
Whole exome sequencing: Patients with arhinia and available family members
boolean
C3640077 (UMLS CUI [1,1])
C0265740 (UMLS CUI [1,2])
C0470187 (UMLS CUI [1,3])
C0086282 (UMLS CUI [1,4])
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
Item
Whole genome sequencing: One multiplex family with arhinia and arhinia sub-phenotypes (anosmia, nasal asymmetry, dental anomalies) Exclusion:
boolean
C3640076 (UMLS CUI [1,1])
C0015576 (UMLS CUI [1,2])
C0265740 (UMLS CUI [1,3])
C1515010 (UMLS CUI [1,4])
C0031437 (UMLS CUI [1,5])
C0003126 (UMLS CUI [1,6])
C0332514 (UMLS CUI [1,7])
C3553737 (UMLS CUI [1,8])
C0680251 (UMLS CUI [2,1])
None
Item
None
boolean
C0549184 (UMLS CUI [1,1])