Elig.phs000295.v2.p1.1
Item
*Inclusion:* Suspected rare, Mendelian disease of unknown etiology. There must also be at least 2 samples representative of a unique rare Mendelian disease within a cohort in order for that disease to be included in the study. For the Kabuki cohort, 10 unrelated individuals with classical diagnosis of Kabuki were included.
boolean
C1512693 (UMLS CUI [1,1])
C0678236 (UMLS CUI [2,1])
C0683231 (UMLS CUI [2,2])
C0743626 (UMLS CUI [2,3])
C0750491 (UMLS CUI [2,4])
C0220900 (UMLS CUI [3,1])
C0678236 (UMLS CUI [3,2])
C0796004 (UMLS CUI [4,1])
Elig.phs000295.v2.p1.2
Item
*Exclusion:* None.
boolean
C0680251 (UMLS CUI [1,1])
C0549184 (UMLS CUI [1,2])