Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Jump to:
loading...
Preferred Name

ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE
Synonyms

ATP7A
ID

http://purl.bioontology.org/ontology/OMIM/300011
altLabel

ATP7A

SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3

MENKES DISEASE, MILD

OCCIPITAL HORN SYNDROME

MENKES DISEASE

MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE
cui

C4016446

C0022716

C4016447

C0268353

C1845359

C1412688
Gene Locus

Xq12-q13
Gene Symbol

MK

OHS

SMAX3

ATP7A

MNK
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/300011.0005

http://purl.bioontology.org/ontology/OMIM/300011.0003

http://purl.bioontology.org/ontology/OMIM/300011.0009

http://purl.bioontology.org/ontology/OMIM/300011.0006

http://purl.bioontology.org/ontology/OMIM/300011.0004

http://purl.bioontology.org/ontology/OMIM/300011.0001

http://purl.bioontology.org/ontology/OMIM/300011.0007

http://purl.bioontology.org/ontology/OMIM/300011.0008

http://purl.bioontology.org/ontology/OMIM/300011.0002

http://purl.bioontology.org/ontology/OMIM/300011.0013

http://purl.bioontology.org/ontology/OMIM/300011.0012

http://purl.bioontology.org/ontology/OMIM/300011.0011

http://purl.bioontology.org/ontology/OMIM/300011.0016

http://purl.bioontology.org/ontology/OMIM/300011.0015

http://purl.bioontology.org/ontology/OMIM/300011.0010

http://purl.bioontology.org/ontology/OMIM/300011.0014
MIMTYPEMEANING

Gene with known sequence
Moved from

600468
notation

300011
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE
tui

T047

T033

T019

T028
Add comment
Add proposal
Delete Subject Author Type Created
No notes to display
Create mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MEDDRA/10027293 MEDDRA CUI
http://purl.bioontology.org/ontology/SCTSPA/59399004 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C564506 MESH CUI
http://purl.bioontology.org/ontology/LNC/LP32677-4 LOINC 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.bioontology.org/ontology/MESH/C537860 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D6-90330 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X40QP RCD CUI
http://purl.bioontology.org/ontology/SNOMEDCT/59399004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/RCD/X78Dc RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/766764008 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/766764008 SNOMEDCT CUI