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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/246200
http://purl.bioontology.org/ontology/OMIM/246200
|
|---|---|
| Preferred Name | DONOHUE SYNDROME |
| Synonyms |
LEPRECHAUNISM
INSULIN RECEPTOR, DEFECT IN
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LEPRECHAUNISM
INSULIN RECEPTOR, DEFECT IN
|
|---|---|
| prefLabel | DONOHUE SYNDROME
|
| Gene Symbol |
INSR
HHF5
|
| Scope Statement | Caused by mutation in the insulin receptor gene (INSR, 147670.0002) [MOLECULAR BASIS]
Death often in early infancy [MISCELLANEOUS]
|
| type | |
| Has manifestation |
See more
See less
|
| tui | T047
|
| Gene Locus | 19p13.2
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 246200
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0271689
C0265344
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |