Preferred Name

Chondrodysplasia Punctata [Disease/Finding]

Synonyms

Dysplasia Epiphysialis Punctata

Chondrodysplasia Punctata

ID

http://purl.bioontology.org/ontology/NDFRT/N0000000768

altLabel

Dysplasia Epiphysialis Punctata

Epiphyses, Stippled

Stippled Epiphyses

Chondrodystrophia Calcificans Congenita

Chondrodysplasia Punctata

cui

C0008445

MESH DEFINITION

A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

MESH DUI

D002806

MeSH name

Chondrodysplasia Punctata

MESH UI

M0004308

NDFRT kind

DISEASE_KIND

notation

N0000000768

NUI

N0000000768

prefLabel

Chondrodysplasia Punctata [Disease/Finding]

SNOMED CID

360507004

278715001

205486004

tui

T019

subClassOf

http://purl.bioontology.org/ontology/NDFRT/N0000002249

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