Phenotype Library | Search Phenotypes

X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type (MONDO:0010463)

A rare genetic bone disorder characterized by chondrodysplasia, intrauterine growth retardation (IUGR), hydrocephaly and facial dysmorphism in the affected males.

Overview

Category

syndromic disease

Ontology ID

MONDO:0010463

Internal:11622

Synonyms

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia, X-linked dominant

chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia

Mapped terms

DOID:0112106

GARD:0017007

MEDGEN:477107

OMIM:300863

Orphanet:163966

SCTID:719837003

UMLS:C3275476

Child terms

Unknown children.

Results

Cookie consent