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Congenital cataract facial dysmorphism neuropathy syndrome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY
604168
C1858726
MESH:C565822
CTDP1
Unknown
16194727
CTD
Disgenet
HPO
GJA3
Unknown
—
Disgenet
CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME
48431
MONDO:0011402
CTDP1
Causal
14517542
24690360
20301787
ClinVar
GWAS catalog
Orphanet