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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/620331
http://purl.bioontology.org/ontology/OMIM/620331
|
|---|---|
| Preferred Name | HATIPOGLU IMMUNODEFICIENCY SYNDROME |
| Synonyms |
HATIS
IMMUNODEFICIENCY 111
IMD111
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HATIS
IMMUNODEFICIENCY 111
IMD111
|
|---|---|
| prefLabel | HATIPOGLU IMMUNODEFICIENCY SYNDROME
|
| Gene Symbol |
HATIS
DPP9
DPRP2
IMD111
|
| Scope Statement | Caused by mutation in the dipeptidyl peptidase IX gene (DPP9, 608258.0001) [MOLECULAR BASIS]
Four patients from 3 unrelated families have been reported (last curated April 2023) [MISCELLANEOUS]
Onset in infancy or early childhood [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 19p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 620331
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5830439
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |