Human Disease Ontology

Last uploaded: November 1, 2024
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Preferred Name

Menkes disease
Synonyms

steely hair syndrome

COPPER TRANSPORT DISEASE

Menkes kinky-hair syndrome
Definitions

OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_1838
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0022716

SNOMEDCT_US_2023_03_01:59178007

MESH:D007706

GARD:1521

MIM:309400

NCI:C75486
has exact synonym

steely hair syndrome

COPPER TRANSPORT DISEASE

Menkes kinky-hair syndrome
has_obo_namespace

disease_ontology
id

DOID:1838
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

Menkes disease
notation

DOID:1838
prefLabel

Menkes disease
subClassOf

http://purl.obolibrary.org/obo/DOID_896
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_1838 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 DTO SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_1838 FNS-H SAME_URI
http://purl.obolibrary.org/obo/NCIT_C75486 BERO LOOM
http://identifiers.org/omim/309400 REXO LOOM
http://identifiers.org/omim/309400 GEXO LOOM
http://identifiers.org/omim/309400 RETO LOOM
http://purl.obolibrary.org/obo/DERMO_0002746 DERMO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 DOVES LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0022716 OCHV LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Menkes_Disease CSEO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Menkes'_Disease ESSO LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Menkes'_Disease EPISEM LOOM
http://purl.bioontology.org/ontology/OMIM/309400 OMIM LOOM
http://www.limics.org/hrdo/rdfns#pat_id_278 HRDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200580 NANDO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75486 NCIT LOOM
http://purl.obolibrary.org/obo/OMIM_309400 CCO LOOM
http://purl.obolibrary.org/obo/DOID_1838 DTO LOOM
http://purl.obolibrary.org/obo/DOID_1838 BAO LOOM
http://purl.obolibrary.org/obo/DOID_1838 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_1838 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_1838 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1838 FNS-H LOOM
rgo:29039 GAMUTS LOOM
http://www.orpha.net/ORDO/Orphanet_565 ORDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200653 NANDO LOOM
http://www.gamuts.net/entity#Menkes_disease GAMUTS REST