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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607131
http://purl.bioontology.org/ontology/OMIM/607131
|
|---|---|
| Preferred Name | AL-GAZALI-BAKALINOVA SYNDROME |
| Synonyms |
MMEDF
AGBK
MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
MMEDF
AGBK
MACROCEPHALY WITH MULTIPLE EPIPHYSEAL DYSPLASIA AND DISTINCTIVE FACIES
|
|---|---|
| prefLabel | AL-GAZALI-BAKALINOVA SYNDROME
|
| Gene Symbol |
AGBK
ACLS
JBTS12
HLS2
KIF7
|
| Scope Statement | One consanguineous Omani family with a KIF7 mutation has been described (last curated January 2016) [MISCELLANEOUS]
Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0009) [MOLECULAR BASIS]
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| type | |
| Has manifestation |
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| tui | T047
|
| Gene Locus | 15q26.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607131
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| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C1846722
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
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| No notes to display |