Terminal osseous dysplasia with pigmentary defects

Disease Term Disease ID Gene Symbol Classification References Source
TERMINAL OSSEOUS DYSPLASIA
300244OMIM:300244
FLNA Unknown — CTD HPO
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECT SYNDROME
C4509953
FLNA Unknown — Disgenet
TERMINAL OSSEOUS DYSPLASIA AND PIGMENTARY DEFECTS
C1846129
FLNA Unknown — Disgenet
TERMINAL OSSEOUS DYSPLASIA-PIGMENTARY DEFECTS SYNDROME
88630MONDO:0010279
FLNA Causal
10982965 8644737 23037936 18854860 20598277 25614868 31919883
ClinVar GWAS catalog Orphanet