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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615009
http://purl.bioontology.org/ontology/OMIM/615009
|
|---|---|
| Preferred Name | SCHUURS-HOEIJMAKERS SYNDROME |
| Synonyms |
SHMS
MRD17
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 17
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
SHMS
MRD17
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 17
|
|---|---|
| prefLabel | SCHUURS-HOEIJMAKERS SYNDROME
|
| Gene Symbol |
SHMS
MRD17
PACS1
|
| Scope Statement | Recurrent de novo mutation [MISCELLANEOUS]
Caused by mutation in the phosphofurin acidic cluster sorting protein 1 gene (PACS1, 607492.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 11q13.1
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615009
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3554343
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
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| Delete | Subject | Author | Type | Created |
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| No notes to display |