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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/238970
http://purl.bioontology.org/ontology/OMIM/238970
|
|---|---|
| Preferred Name | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME |
| Synonyms |
HHH SYNDROME
ORNITHINE TRANSLOCASE DEFICIENCY
HHHS
HHH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
HHH SYNDROME
ORNITHINE TRANSLOCASE DEFICIENCY
HHHS
HHH
|
|---|---|
| prefLabel | HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME
|
| Gene Symbol |
HHH
ORNT1
SLC25A15
|
| Scope Statement | Onset in first months or years of life [MISCELLANEOUS]
Phenotypic variability [MISCELLANEOUS]
Caused by mutation in the solute carrier family 25 (mitochondrial carrier, ornithine transporter), member 15 gene (SLC25A15, 603861.0001) [MOLECULAR BASIS]
Increased prevalence in the French-Canadian population [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 13q14
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 238970
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C0268540
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |