Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014
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Preferred Name

Menkes disease
Synonyms

X-linked copper deficiency

Menkes syndrome

Kinky hair disease

Kinky hair syndrome

MK

MD

Steely hair syndrome

MNK

Trichopoliodystrophy

Steely hair disease
ID

http://www.limics.org/hrdo/rdfns#pat_id_278
ageOfDeath

Before age 5
ageOfOnset

Neonatal/infancy
altLabel

X-linked copper deficiency

Menkes syndrome

Kinky hair disease

Kinky hair syndrome

MK

MD

Steely hair syndrome

MNK

Trichopoliodystrophy

Steely hair disease
id_Medline

http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=menkes+kinky+hair+syndrome+OR+menkes+dis*%5Bti%5D+OR+Menkes+synd*%5Bti%5D
id_MIM

309400
id_OMS

E83.0
id_Orpha

565
inheritance

X-linked recessive
patType

disease
prefixIRI

hrdo:pat_id_278
prefLabel

Menkes disease
prevalence

Unknown
subClassOf

http://www.limics.org/hrdo/rdfns#typ_id_11
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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0010651 MONDO LOOM
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 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://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 DOID 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