Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/618011
http://purl.bioontology.org/ontology/OMIM/618011
|
|---|---|
| Preferred Name | HYPEREKPLEXIA 4 |
| Synonyms |
HKPX4
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | HKPX4
|
|---|---|
| prefLabel | HYPEREKPLEXIA 4
|
| Gene Symbol |
THORASE
ATAD1
HKPX4
|
| Scope Statement | Onset at birth [MISCELLANEOUS]
Death usually in early childhood [MISCELLANEOUS]
Caused by mutation in the ATPase family, AAA domain-containing, member 1 gene (ATAD1, 614452.0001) [MOLECULAR BASIS]
Progressive disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 10q23.31
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 618011
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4693933
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |