Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
Jump to:
| Preferred Name | NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED | |
| Synonyms |
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 SMAX3 NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED DSMAX HMNX |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/300489 |
|
| altLabel |
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED RECESSIVE SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3 SMAX3 NEUROPATHY, DISTAL HEREDITARY MOTOR, X-LINKED DSMAX HMNX
|
|
| cui |
C1845359
|
|
| Gene Locus |
Xq12-q13
|
|
| Gene Symbol |
MK OHS HMNX ATP7A MNK
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004656 http://purl.bioontology.org/ontology/OMIM/MTHU008261 http://purl.bioontology.org/ontology/OMIM/MTHU008263 http://purl.bioontology.org/ontology/OMIM/MTHU000328 http://purl.bioontology.org/ontology/OMIM/MTHU008262 http://purl.bioontology.org/ontology/OMIM/MTHU008264 http://purl.bioontology.org/ontology/OMIM/MTHU001118 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU005706 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known.
|
|
| notation |
300489
|
|
| OMIM Entry Type |
3
|
|
| OMIM MimType Value |
pound
|
|
| prefLabel |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED
|
|
| Scope Statement |
Adult onset may also occur [MISCELLANEOUS] Affected individuals remain ambulatory in old age [MISCELLANEOUS] Slow disease progression [MISCELLANEOUS] Caused by mutation in the ATPase, Cu(2+)-transporting, alpha polypeptide (ATP7A, 300011.0015) [MOLECULAR BASIS] Onset in first decade [MISCELLANEOUS]
|
|
| tui |
T047
|
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |