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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/612313
http://purl.bioontology.org/ontology/OMIM/612313
|
|---|---|
| Preferred Name | GLASS SYNDROME |
| Synonyms |
GLASS
CHROMOSOME 2q32-q33 DELETION SYNDROME
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
GLASS
CHROMOSOME 2q32-q33 DELETION SYNDROME
|
|---|---|
| prefLabel | GLASS SYNDROME
|
| Gene Symbol |
SATB2
KIAA1034
GLSS
|
| Scope Statement | Variable manifestations [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
Caused by mutation in the special AT-rich sequence-binding protein 2 gene (SATB2, 608148.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 2q33
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| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 612313
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C2676739
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |