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Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type (MONDO:0013223)

Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene.

Overview

Category

Ontology ID

Internal:14259

Synonyms

PAM16 spondylodysplastic dysplasia

spondylodysplastic dysplasia caused by mutation in PAM16

spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type

SMDMDM

autosomal recessive spondylometaphyseal dysplasia, Mégarbané type

chondrodysplasia, Megarbane-Dagher-Melki type

spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type

Mapped terms

DOID:0112304

GARD:0017667

MEDGEN:413221

MESH:C567644

OMIM:613320

Orphanet:401979

UMLS:C2750075

Child terms

Unknown children.