Preferred Name | ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE | |
Synonyms |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED ATP7A MENKES DISEASE, MILD OCCIPITAL HORN SYNDROME MENKES DISEASE MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE |
|
ID |
http://purl.bioontology.org/ontology/OMIM/300011 |
|
altLabel |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED ATP7A 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 HMNX 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 |
|
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 |