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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/611804
http://purl.bioontology.org/ontology/OMIM/611804
|
|---|---|
| Preferred Name | ELLIPTOCYTOSIS 1 |
| Synonyms |
PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
4.1- TRAIT
EL1
ELLIPTOCYTOSIS, RHESUS-LINKED TYPE
4.1-MINUS TRAIT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PROTEIN 4.1 OF ERYTHROCYTE MEMBRANE, DEFECT OF
4.1- TRAIT
EL1
ELLIPTOCYTOSIS, RHESUS-LINKED TYPE
4.1-MINUS TRAIT
|
|---|---|
| prefLabel | ELLIPTOCYTOSIS 1
|
| Gene Symbol |
EL1
EPB41
|
| Scope Statement | Patients with heterozygous mutations may be clinically asymptomatic [MISCELLANEOUS]
Caused by mutation in the erythrocyte membrane protein band 4.1 gene (EPB41, 130500.0001) [MOLECULAR BASIS]
Affected individuals may have heterozygous or homozygous mutations [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p36.2-p34
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 611804
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2678497
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |