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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/617822
http://purl.bioontology.org/ontology/OMIM/617822
|
|---|---|
| Preferred Name | ALKURAYA-KUCINSKAS SYNDROME |
| Synonyms |
ALKKUCS
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel | ALKKUCS
|
|---|---|
| prefLabel | ALKURAYA-KUCINSKAS SYNDROME
|
| Gene Symbol |
ALKKUCS
KIAA1109
BLTP1
|
| Scope Statement | Most affected individuals die in utero or soon after birth [MISCELLANEOUS]
Caused by mutation in the bridge-like lipid transfer protein family, member 1 gene (BLTP1, 611565.0001) [MOLECULAR BASIS]
Onset in utero [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 4q27
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 617822
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C4693347
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |