Experimental Factor Ontology

Last uploaded: November 18, 2024

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Preferred Name	adrenogenital syndrome
Synonyms	congenital adrenal hyperplasia adrenogenital syndrome androgenital syndrome adrenogenital disorder
Definitions	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.
ID	http://purl.obolibrary.org/obo/MONDO_0015898
closeMatch	http://identifiers.org/meddra/10061630
database_cross_reference	UMLS:C0302280 MESH:D047808 Orphanet:181412 MedDRA:10061630 SCTID:267395000 MEDGEN:86215 icd11.foundation:131153029 GARD:20226 ICD9:255.2
definition	Abnormal sex differentiation or congenital disorders of sex development caused by abnormal levels of steroid hormones expressed by the gonads or the adrenal glands, such as in congenital adrenal hyperplasia and adrenal cortex neoplasms. Due to abnormal steroid biosynthesis, clinical features include virilism in females; feminization in males; or precocious sexual development in children.
exactMatch	http://identifiers.org/mesh/D047808 http://linkedlifedata.com/resource/umls/id/C0302280 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/131153029 http://identifiers.org/medgen/86215 http://purl.obolibrary.org/obo/Orphanet_181412 http://identifiers.org/snomedct/267395000
has_exact_synonym	adrenogenital syndrome androgenital syndrome adrenogenital disorder
has_related_synonym	congenital adrenal hyperplasia
id	MONDO:0015898
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	adrenogenital syndrome
notation	MONDO:0015898
preferred label	adrenogenital syndrome
prefLabel	adrenogenital syndrome
subClassOf	http://www.ebi.ac.uk/efo/EFO_0005539 http://purl.obolibrary.org/obo/MONDO_0045012
excluded_subClassOf	http://purl.obolibrary.org/obo/MONDO_0015971

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0015898	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015898	CCONT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015898	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015898	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0015898	MONDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D047808	RH-MESH	LOOM
http://id.nlm.nih.gov/mesh/D047808	MDM	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0701163	OCHV	LOOM
http://purl.bioontology.org/ontology/MESH/D047808	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C12.706.316.129	RH-MESH	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10061630	MEDDRA	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C13.351.875.253.129	RH-MESH	LOOM
http://www.orpha.net/ORDO/Orphanet_181412	ORDO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037259	PMAPP-PMO	LOOM
rgo:29482	GAMUTS	LOOM
http://purl.obolibrary.org/obo/OMIT_0023959	OMIT	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_18182	HRDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.131.939.316.129	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0015898	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0015898	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0015898	DOVES	LOOM
http://purl.jp/bio/4/id/200906000386017847	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C19.391.119.129	RH-MESH	LOOM
http://purl.obolibrary.org/obo/HP_0000840	HP	LOOM
http://purl.obolibrary.org/obo/HP_0000840	UPHENO	LOOM