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rhizomelic chondrodysplasia punctata type 1

^ http://purl.obolibrary.org/obo/MONDO_0008972

A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause. [ https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1 ]

Term info

database cross reference
  • Orphanet:309789 (OMIM:215100)
  • GARD:0006049 (MONDO:equivalentTo)
  • UMLS:C1859133 (Orphanet:309789/e)
  • OMIM:215100 (Orphanet:309789/e)
  • DOID:0110851 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_etiological_subtype

abbreviation
RCDP1 [ OMIM:215100 MONDO:Lexical ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632, https://github.com/monarch-initiative/mondo/issues/4948

definition

A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.

exactMatch

http://purl.obolibrary.org/obo/DOID_0110851, http://purl.obolibrary.org/obo/Orphanet_309789, https://omim.org/entry/215100, http://linkedlifedata.com/resource/umls/id/C1859133

has exact synonym

Pbd9, rhizomelic chondrodysplasia punctata caused by mutation in PEX7, PEX7 rhizomelic chondrodysplasia punctata, Rcdp1, peroxisome biogenesis disorder 9, rhizomelic chondrodysplasia punctata type 1, rhizomelic chondrodysplasia punctata, type 1

has related synonym

chondrodysplasia punctata, rhizomelic form, RCDP1, chondrodystrophia calcificans punctata

id

MONDO:0008972

seeAlso

https://rarediseases.info.nih.gov/diseases/6049/rhizomelic-chondrodysplasia-punctata-type-1