Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	chondrodysplasia punctata
Synonyms	Chondrodysplasia punctata congenita
Definitions	A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. DeObs MGI.
ID	http://purl.obolibrary.org/obo/DOID_2581
comment	DeObs MGI.
database_cross_reference	OMIM:215105 ICD10CM:Q77.3 UMLS_CUI:C0008445 NCI:C84632 MESH:D002806 GARD:8542 SNOMEDCT_US_2022_09_01:205486004 ORDO:93442
definition	A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography.
disease has basis in	http://purl.obolibrary.org/obo/SO_0000704
has exact synonym	Chondrodysplasia punctata congenita
has narrower match	MESH:D002806
has_obo_namespace	disease_ontology
id	DOID:2581
in_subset	http://purl.obolibrary.org/obo/doid#DO_rare_slim http://purl.obolibrary.org/obo/doid#NCIthesaurus
label	chondrodysplasia punctata
notation	DOID:2581
prefLabel	chondrodysplasia punctata
subClassOf	http://purl.obolibrary.org/obo/DOID_225 http://purl.obolibrary.org/obo/DOID_0050177

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Mapping To	Ontology	Source
http://purl.bmicc.cn/ontology/ICD11CN/LD24.04	International Classification of Diseases, 11th Edition, China	LOOM
http://purl.bioontology.org/ontology/MESH/D002806	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU050816	Online Mendelian Inheritance in Man	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84632	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/ICD10CM/Q77.3	International Classification of Diseases, Version 10 - Clinical Modification	LOOM
http://purl.bioontology.org/ontology/ICD10/Q77.3	International Classification of Diseases, Version 10	LOOM