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Metadata
DOID DOID:0060292
Name X-linked chondrodysplasia punctata 1
Definition A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, has_material_basis_in X-linked recessive inheritance, has_material_basis_in deficiency of arylsulfatase E. and is associated with associated with vitamin K-related teratogenicity.
https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata
Xrefs

ICD10CM:Q77.3

MESH:C002806

OMIM:302950

ORDO:35173

Subsets

DO_rare_slim

Synonyms

chondrodystrophia calcificans congenita [EXACT]

Relationships

is_a chondrodysplasia punctata

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