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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/616754
http://purl.bioontology.org/ontology/OMIM/616754
|
|---|---|
| Preferred Name | BOMBAY PHENOTYPE |
| Synonyms |
PARA-BOMBAY PHENOTYPE
BOMBAY PHENOTYPE, DIGENIC
REUNION VARIANT
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
PARA-BOMBAY PHENOTYPE
BOMBAY PHENOTYPE, DIGENIC
REUNION VARIANT
|
|---|---|
| prefLabel | BOMBAY PHENOTYPE
|
| Gene Symbol |
H
HH
FUT1
|
| Scope Statement | Caused by mutation in the fucosyltransferase-1 gene (FUT1, 211100.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation | |
| tui | T033
|
| Gene Locus | 19q13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 616754
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1859411
C1859408
C4225430
C4749062
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |