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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/110800
http://purl.bioontology.org/ontology/OMIM/110800
|
|---|---|
| Preferred Name | BLOOD GROUP, I SYSTEM |
| Synonyms |
Ii
Ii BLOOD GROUP SYSTEM
ADULT i PHENOTYPE
I BLOOD GROUP SYSTEM
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
Ii
Ii BLOOD GROUP SYSTEM
ADULT i PHENOTYPE
I BLOOD GROUP SYSTEM
|
|---|---|
| prefLabel | BLOOD GROUP, I SYSTEM
|
| Gene Symbol |
GCNT2
Ii
CTRCT13
|
| Scope Statement | After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months [MISCELLANEOUS]
Caused by mutation in the glucosaminyl (N-acetyl) transferase 2, I-branching enzyme gene (600429.0004) [MOLECULAR BASIS]
Adult i phenotype can be associated with congenital cataract (see 116700) [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui |
T022
T033
|
| Gene Locus | 6p24-p23
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 110800
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1292164
C0020717
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |