Link to this page
Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/245400
http://purl.bioontology.org/ontology/OMIM/245400
|
|---|---|
| Preferred Name | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) |
| Synonyms |
LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY
MTDPS9
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LACTIC ACIDOSIS, FATAL INFANTILE, FORMERLY
MTDPS9
|
|---|---|
| prefLabel | MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
|
| Gene Symbol |
SUCLA1
MTDPS9
SUCLG1
|
| Scope Statement | Caused by mutation in the alpha subunit of succinate-coenzyme A ligase (SUCLG1, 611224.0001) [MOLECULAR BASIS]
Onset in infancy [MISCELLANEOUS]
Variable phenotype [MISCELLANEOUS]
Death usually in infancy [MISCELLANEOUS]
Severe disorder [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 2p11.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 245400
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3151476
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |