Experimental Factor Ontology

Last uploaded: November 18, 2024

Preferred Name	dysplasia of the proximal femoral epiphyses
Synonyms
Definitions	A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.
ID	http://purl.obolibrary.org/obo/MONDO_1030002
creator	https://orcid.org/0000-0002-3458-4839
database_cross_reference	UMLS:C3279764 MEDGEN:481394
definition	A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1.
exactMatch	http://identifiers.org/medgen/481394 http://linkedlifedata.com/resource/umls/id/C3279764
IAO_0000233	https://github.com/monarch-initiative/mondo/issues/7379
id	MONDO:1030002
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#inferred_rare
label	dysplasia of the proximal femoral epiphyses
notation	MONDO:1030002
preferred label	dysplasia of the proximal femoral epiphyses
prefLabel	dysplasia of the proximal femoral epiphyses
subClassOf	http://purl.obolibrary.org/obo/MONDO_0022800

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_1030002	CCONT	SAME_URI
http://purl.bioontology.org/ontology/OMIM/MTHU035032	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_1030002	CCONT	LOOM