Diaphyseal bone disorder

Disease Term Disease ID Gene Symbol Classification References Source
DIAPHYSEAL DYSPLASIA
HP:0100252
TGFB1 Causal — ClinVar
DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
112250C1862177MESH:C536169
MTAP Unknown — CTD Disgenet HPO
DIAPHYSEAL MEDULLARY STENOSIS-BONE MALIGNANCY SYNDROME
85182MONDO:0007205
MTAP Causal
19197386 22464254
ClinGen ClinVar Disgenet Orphanet