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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/301142
http://purl.bioontology.org/ontology/OMIM/301142
|
|---|---|
| Preferred Name | NEURODEGENERATIVE DISORDER, X-LINKED, FEMALE-RESTRICTED, WITH PARKINSONISM AND COGNITIVE IMPAIRMENT |
| Synonyms |
NDPACX
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | NDPACX
|
|---|---|
| prefLabel | NEURODEGENERATIVE DISORDER, X-LINKED, FEMALE-RESTRICTED, WITH PARKINSONISM AND COGNITIVE IMPAIRMENT
|
| Gene Symbol |
MRXSCH
NHE6
SLC9A6
NDPACX
|
| Scope Statement | Variable manifestations [MISCELLANEOUS]
Limited to females [MISCELLANEOUS]
Adult onset [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the solute carrier family 9, member 6 gene (SLC9A6, 300231.0008) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
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| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | Xq26.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 301142
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C6012689
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |