Metaphyseal dysplasia

Disease Term Disease ID Gene Symbol Classification References Source
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA AND BRACHYDACTYLY
MESH:C563586
RUNX2 Unknown — CTD
METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY
156510C3549874
RUNX2 Unknown — Disgenet HPO
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
C1834821
CCDC107 Unknown — Disgenet
METAPHYSEAL DYSPLASIA, MAXILLARY HYPOPLASIA, BRACHYDACTYLY SYNDROME
C4510380
RUNX2 Unknown — Disgenet
METAPHYSEAL DYSPLASIA, SPAHR TYPE
250400
MMP13 Unknown — HPO
METAPHYSEAL DYSPLASIA-MAXILLARY HYPOPLASIA-BRACHYDACTY SYNDROME
2504MONDO:0007984
RUNX2 Causal
16838304 20683987 23290074 23348268 25311905 29891876
ClinVar GWAS catalog Orphanet