BioAssay Ontology

Last uploaded: January 17, 2025

Id	http://purl.obolibrary.org/obo/DOID_2581 http://purl.obolibrary.org/obo/DOID_2581
Preferred Name	chondrodysplasia punctata
Definitions	A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. DeObs MGI.
Synonyms	Chondrodysplasia punctata congenita
Type	http://www.w3.org/2002/07/owl#Class

label	chondrodysplasia punctata
comment	DeObs MGI.
prefLabel	chondrodysplasia punctata
has cross-reference	ICD10CM:Q77.3 SNOMEDCT_US_2020_03_01:205486004 OMIM:215105 UMLS_CUI:C0008445 MESH:D002806 GARD:8542 NCI:C84632 ORDO:93442 See more See less
notation	DOID:2581
in_subset	http://purl.oboInOwllibrary.org/oboInOwl/doid#NCIthesaurus
has narrower match	MESH:D002806
id	DOID:2581
has_obo_namespace	disease_ontology
textual definition	A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
subClassOf	http://purl.obolibrary.org/obo/DOID_0050177 http://purl.obolibrary.org/obo/DOID_225
imported from	http://purl.obolibrary.org/obo/doid.owl
type	http://www.w3.org/2002/07/owl#Class
has exact synonym	Chondrodysplasia punctata congenita

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