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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615829
http://purl.bioontology.org/ontology/OMIM/615829
|
|---|---|
| Preferred Name | XIA-GIBBS SYNDROME |
| Synonyms |
MRD25, FORMERLY
XIGIS
MENTAL RETARDATION, AUTOSOMAL DOMINANT 25, FORMERLY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MRD25, FORMERLY
XIGIS
MENTAL RETARDATION, AUTOSOMAL DOMINANT 25, FORMERLY
|
|---|---|
| prefLabel | XIA-GIBBS SYNDROME
|
| Gene Symbol |
MRD25
AHDC1
XIGIS
|
| Scope Statement | De novo mutation [MISCELLANEOUS]
Caused by mutation in the AT-hook DNA-binding motif-containing protein 1 gene (AHDC1, 615790.0001) [MOLECULAR BASIS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 1p36.11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615829
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C4014419
C5436345
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |