Autosomal dominant chondrodysplasia punctata

rare

Autosomal dominant form of chondrodysplasia punctata.

Identifiers: MONDO:0007321 OMIM:118650 Orphanet:79344
Part of: Autosomal dominant disease Non-rhizomelic chondrodysplasia punctata Syndromic disease
Also known as: chondrodysplasia punctata Sheffield type · chondrodysplasia punctata, autosomal dominant · chondrodysplasia punctata, Sheffield type

Subtypes

Disease	ID	Subtypes
Chondrodysplasia punctata, brachytelephalangic, autosomal	MONDO:0011238
Chondrodysplasia punctata, tibial-metacarpal type	MONDO:0007322

Rare disease

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