loading...| Preferred Name | chondrodysplasia punctata | |
| Synonyms |
chondrodysplasia calcificans congenita chondrodysplasia punctata (stippled epiphyses) Group chondrodysplasia punctata congenita CDP |
|
| Definitions |
A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019701 |
|
| database_cross_reference |
NANDO:2201017 Orphanet:93442 NCIT:C84632 ICD10CM:Q77.3 SCTID:360507004 icd11.foundation:1923035846 UMLS:C0008445 ICD9:756.59 MESH:D002806 MEDGEN:3052 DOID:2581 GARD:8542 |
|
| 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://linkedlifedata.com/resource/umls/id/C0008445 http://identifiers.org/mesh/D002806 http://identifiers.org/medgen/3052 http://purl.obolibrary.org/obo/DOID_2581 http://purl.obolibrary.org/obo/Orphanet_93442 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1923035846 |
|
| has_exact_synonym |
chondrodysplasia calcificans congenita chondrodysplasia punctata (stippled epiphyses) Group chondrodysplasia punctata congenita CDP |
|
| IAO_0000233 | ||
| id |
MONDO:0019701 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
chondrodysplasia punctata |
|
| notation |
MONDO:0019701 |
|
| preferred label |
chondrodysplasia punctata |
|
| prefLabel |
chondrodysplasia punctata |
|
| subClassOf |