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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/619418
http://purl.bioontology.org/ontology/OMIM/619418
|
|---|---|
| Preferred Name | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2 |
| Synonyms |
IMNEPD2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | IMNEPD2
|
|---|---|
| prefLabel | NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2
|
| Gene Symbol |
YARS1
IMNEPD2
YTS
CMTDIC
YRS
YARS
TYRRS
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|
| Scope Statement | Early death may occur [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Variable severity [MISCELLANEOUS]
Caused by mutation in the tyrosyl-tRNA synthetase 1 gene (YARS1, 603623.0005) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p35
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 619418
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C5543623
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |