Drug Target Ontology

Last uploaded: February 15, 2018
Preferred Name

congenital adrenal hyperplasia

Synonyms
Definitions

Xref MGI. A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

ID

http://purl.obolibrary.org/obo/DOID_0050811

comment

Xref MGI.

created_by

lschriml

creation_date

2013-12-04T12:52:02Z

definition

A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

hasDbXref

OMIM:202010

SNOMEDCT_US_2016_03_01:154706003

OMIM:201910

ORDO:418

SNOMEDCT_US_2016_03_01:190510000

SNOMEDCT_US_2016_03_01:267395000

ICD10CM:E25.9

UMLS_CUI:C0701163

SNOMEDCT_US_2016_03_01:190519004

OMIM:201710

ICD10CM:E25

OMIM:201810

OMIM:202110

ICD9CM:255.2

hasExactSynonym

adrenal hyperplasia 1

congenital lipoid adrenal hyperplasia

lipoid CAH

hasOBONamespace

disease_ontology

id

DOID:0050811

imported from

http://purl.obolibrary.org/obo/doid.owl

label

congenital adrenal hyperplasia

prefixIRI

DOID:0050811

prefLabel

congenital adrenal hyperplasia

subClassOf

http://purl.obolibrary.org/obo/DOID_1701

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_0050811 DOID SAME_URI
http://purl.obolibrary.org/obo/DOID_0050811 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_0050811 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_0050811 FNS-H SAME_URI
http://purl.obolibrary.org/obo/HP_0008258 HP LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050811 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0018479 MONDO LOOM
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 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 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
http://purl.obolibrary.org/obo/DOID_0050811 HHEAR 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.gamuts.net/entity#congenital_adrenal_hyperplasia GAMUTS LOOM
http://www.owl-ontologies.com/Ontology1358660052.owl#Congenital_Adrenal_Hyperplasia PEDTERM LOOM
http://purl.bioontology.org/ontology/LNC/LA12533-8 LOINC LOOM
http://purl.bioontology.org/ontology/CSP/0060-3730 CRISP 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://localhost/plosthes.2017-1#7455 PLOSTHES LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021596 LOINC LOOM

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