JSON

chondrodysplasia punctata

Go to external page 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 ]

Synonyms: chondrodysplasia punctata congenita chondrodysplasia calcificans congenita CDP chondrodysplasia punctata (stippled epiphyses) Group

This is just here as a test because I lose it

Term information

database cross reference
  • icd11.foundation:1923035846 (Orphanet:93442)
  • ICD10CM:Q77.3 (Orphanet:93442/specific)
  • GARD:8542 (MONDO:GARD)
  • NCIT:C84632 (MONDO:equivalentTo)
  • NANDO:2201017 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:360507004 (MONDO:equivalentTo)
  • Orphanet:93442 (MONDO:equivalentTo)
  • MESH:D002806 (Orphanet:93442/e)
  • DOID:2581 (MONDO:equivalentTo)
  • ICD9:756.59 (MONDO:relatedTo)
  • MEDGEN:3052 (MONDO:equivalentTo)
  • UMLS:C0008445 (MONDO:equivalentTo)
Subsets

gard_rare, otar, disease_grouping, rare, nord_rare, ordo_group_of_disorders

IAO 0000233

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

exactMatch

http://identifiers.org/snomedct/360507004

http://identifiers.org/medgen/3052

http://linkedlifedata.com/resource/umls/id/C0008445

http://purl.bioontology.org/ontology/ICD10CM/Q77.3

http://purl.obolibrary.org/obo/DOID_2581

http://purl.obolibrary.org/obo/NCIT_C84632

http://identifiers.org/mesh/D002806

http://www.orpha.net/ORDO/Orphanet_93442

id

MONDO:0019701

Term relations

Subclass of: