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Preferred Name

congenital adrenal hyperplasia
Synonyms

adrenogenital syndrome
Definitions

group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.
ID

http://purl.bioontology.org/ontology/CSP/0060-3730
altLabel

adrenogenital syndrome
cui

C0001627

C0302280
definition

group of syndromes caused by inherited defects in cortisol and/or aldosterone biosynthesis; ACTH elevation is caused by low levels of cortisol, whose production is impaired by absence or deficiency of one of the five enzymes necessary for its synthesis from cholesterol.
DID

0060-3730
Inverse of RB

http://purl.bioontology.org/ontology/CSP/2791-2966

http://purl.bioontology.org/ontology/CSP/0060-3106

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/2586-8784
Inverse of RO

http://purl.bioontology.org/ontology/CSP/0060-3370

http://purl.bioontology.org/ontology/CSP/0060-4199
notation

0060-3730
prefLabel

congenital adrenal hyperplasia
tui

T047
subClassOf

http://purl.bioontology.org/ontology/CSP/2791-2966

http://purl.bioontology.org/ontology/CSP/0060-3106

http://purl.bioontology.org/ontology/CSP/1849-0057

http://purl.bioontology.org/ontology/CSP/2586-8784
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http://purl.bioontology.org/ontology/SNMI/D6-80100 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/267395000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D000312 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10010323 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10010323 MDRGER CUI
http://purl.bioontology.org/ontology/OMIM/MTHU014663 OMIM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237751000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000328 NDFRT CUI
http://purl.bioontology.org/ontology/LNC/LA12533-8 LOINC CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001627 MEDLINEPLUS CUI
http://purl.bioontology.org/ontology/MESH/D000312 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10010323 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40MT RCD CUI
http://purl.bioontology.org/ontology/LNC/LP56767-4 LOINC CUI
http://purl.bioontology.org/ontology/ICD10CM/E25.0 ICD10CM CUI
http://purl.bioontology.org/ontology/LNC/MTHU021596 LOINC CUI
http://purl.bioontology.org/ontology/SCTSPA/237751000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10001400 MEDDRA CUI
http://purl.bioontology.org/ontology/SNMI/D6-80100 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10067952 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/C1520 RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10067952 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D047808 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10001401 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10061630 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10061630 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010958 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10061630 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10001383 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237751000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10001400 MDRFRE CUI
http://purl.bioontology.org/ontology/WHOFRE/0825 WHOFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10067952 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10001400 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10001383 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/ANOMALY%20CONGEN COSTART CUI
http://purl.bioontology.org/ontology/MEDDRA/10001401 MEDDRA CUI
http://purl.bioontology.org/ontology/MSHFRE/D047808 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10001401 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/271077003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E25.9 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/271077003 SCTSPA CUI
http://purl.bioontology.org/ontology/WHO/0825 WHO-ART CUI
http://purl.bioontology.org/ontology/MEDDRA/10001383 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/237751000 SCTSPA CUI
http://purl.bioontology.org/ontology/SCTSPA/267395000 SCTSPA CUI
http://pat.nichd.nih.gov/maternalconditions/C0001627 PATMHC LOOM
http://www.orpha.net/ORDO/Orphanet_418 ORDO LOOM
http://www.co-ode.org/ontologies/galen#CongenitalAdrenalHyperplasia GALEN LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0001627 OCHV LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 DOVES LOOM
http://purl.jp/bio/4/id/200906090671453439 IOBC LOOM
http://purl.bioontology.org/ontology/MEDDRA/10010323 MEDDRA LOOM
http://purl.obolibrary.org/obo/HP_0008258 HP LOOM
http://purl.obolibrary.org/obo/HP_0008258 UPHENO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_648 HRDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34360 NCIT LOOM
rgo:27861 GAMUTS LOOM
http://purl.obolibrary.org/obo/DOID_0050811 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050811 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0050811 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050811 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0050811 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050811 FNS-H LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU014663 OMIM LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/237751000 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/DERMO_0001521 DERMO LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Adrenal_Hyperplasia PEDTERM LOOM
http://purl.bioontology.org/ontology/LNC/LA12533-8 LOINC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00006212 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001627 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/MESH/D000312 GSSO LOOM
http://purl.obolibrary.org/obo/NCIT_C34360 BERO LOOM
http://purl.obolibrary.org/obo/DOID_12255 CLO LOOM
http://purl.bioontology.org/ontology/RCD/X40MT RCD LOOM
http://purl.bioontology.org/ontology/LNC/LP56767-4 LOINC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_12255 NATPRO LOOM
http://nanbyodata.jp/ontology/NANDO_2100134 NANDO LOOM
http://localhost/plosthes.2017-1#7455 PLOSTHES LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021596 LOINC LOOM