FNS-Harmony

Last uploaded: November 2, 2023
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Preferred Name

congenital adrenal hyperplasia
Synonyms
Definitions

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
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.
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_0080015

http://purl.obolibrary.org/obo/DOID_1701
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http://purl.obolibrary.org/obo/DOID_0050811 DTO SAME_URI
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 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_0050811 NIFSTD SAME_URI
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.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://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://nanbyodata.jp/ontology/NANDO_2100134 NANDO LOOM
http://localhost/plosthes.2017-1#7455 PLOSTHES LOOM
http://purl.bioontology.org/ontology/LNC/MTHU021596 LOINC LOOM