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chondrodysplasia punctata

^ http://purl.obolibrary.org/obo/MONDO_0019701

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. [ NCIT:P378 ]

Term info

database cross reference
  • DOID:2581 (MONDO:equivalentTo)
  • GARD:0008542 (MONDO:equivalentTo)
  • ICD10CM:Q77.3 (Orphanet:93442/specific)
  • NCIT:C84632 (MONDO:equivalentTo)
  • ICD9:756.59 (MONDO:relatedTo)
  • UMLS:C0008445 (Orphanet:93442/e)
  • MESH:D002806 (Orphanet:93442/e)
  • SCTID:360507004 (MONDO:equivalentTo)
  • Orphanet:93442 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CDP [ Orphanet:93442 ]

IAO 0000233

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

definition

A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.

exactMatch

http://identifiers.org/snomedct/360507004, http://purl.bioontology.org/ontology/ICD10CM/Q77.3, http://linkedlifedata.com/resource/umls/id/C0008445, http://purl.obolibrary.org/obo/DOID_2581, http://purl.obolibrary.org/obo/NCIT_C84632, http://identifiers.org/mesh/D002806, http://purl.obolibrary.org/obo/Orphanet_93442

has exact synonym

chondrodysplasia punctata congenita, chondrodysplasia calcificans congenita, CDP, chondrodysplasia punctata (stippled epiphyses) Group

id

MONDO:0019701

Term relations

Subclass of: