Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MENKES DISEASE
Synonyms

STEELY HAIR DISEASE
ID

http://purl.bioontology.org/ontology/OMIM/309400
altLabel

STEELY HAIR DISEASE

COPPER TRANSPORT DISEASE

MK

KINKY HAIR DISEASE

MNK

MENKES SYNDROME
cui

C0022716
Gene Locus

Xq12-q13
Gene Symbol

MK

OHS

SMAX3

ATP7A

MNK
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU007306

http://purl.bioontology.org/ontology/OMIM/MTHU007305

http://purl.bioontology.org/ontology/OMIM/MTHU007307

http://purl.bioontology.org/ontology/OMIM/MTHU032998

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU007303

http://purl.bioontology.org/ontology/OMIM/MTHU007302

http://purl.bioontology.org/ontology/OMIM/MTHU007304

http://purl.bioontology.org/ontology/OMIM/MTHU001148

http://purl.bioontology.org/ontology/OMIM/MTHU000088

http://purl.bioontology.org/ontology/OMIM/MTHU000388

http://purl.bioontology.org/ontology/OMIM/MTHU011913

http://purl.bioontology.org/ontology/OMIM/MTHU007308

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU000033

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

309400
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MENKES DISEASE
Scope Statement

Female carriers may have subtle manifestations [MISCELLANEOUS]

Caused by mutation in the ATPase, Cu++ transporting, alpha polypeptide gene (ATP7A, 300011.0001) [MOLECULAR BASIS]

A milder form has also been reported [MISCELLANEOUS]

Classic severe form shows onset at 2 to 3 months of age [MISCELLANEOUS]

Incidence ranges from 1 in 40,000 to 1 in 350,000 births [MISCELLANEOUS]

Early death (usually by 3 years of age) [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10027293 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10027292 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/59178007 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D007706 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10027294 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/59178007 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRGER/10023452 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10023452 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/PKy92 RCD CUI
http://purl.bioontology.org/ontology/SNMI/D6-32110 SNMI CUI
http://purl.bioontology.org/ontology/MDRGER/10027293 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000001757 NDFRT CUI
http://purl.bioontology.org/ontology/CSP/1849-5365 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10027292 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027294 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRFRE/10027293 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10023452 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10027292 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D007706 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10027294 MDRFRE CUI
http://purl.obolibrary.org/obo/MONDO_0010651 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010651 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_1838 DOID 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 DOVES LOOM
http://www.gamuts.net/entity#Menkes_disease GAMUTS 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://www.limics.org/hrdo/rdfns#pat_id_278 HRDO 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 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_1838 FNS-H LOOM
http://www.orpha.net/ORDO/Orphanet_565 ORDO LOOM