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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/607432
http://purl.bioontology.org/ontology/OMIM/607432
|
|---|---|
| Preferred Name | LISSENCEPHALY 1 |
| Synonyms |
LISSENCEPHALY, CLASSIC
SUBCORTICAL BAND HETEROTOPIA
LISSENCEPHALY SEQUENCE, ISOLATED
LIS1
SUBCORTICAL LAMINAR HETEROTOPIA
SBH
ILS
SCLH
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
LISSENCEPHALY, CLASSIC
SUBCORTICAL BAND HETEROTOPIA
LISSENCEPHALY SEQUENCE, ISOLATED
LIS1
SUBCORTICAL LAMINAR HETEROTOPIA
SBH
ILS
SCLH
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|
|---|---|
| prefLabel | LISSENCEPHALY 1
|
| Gene Symbol |
LIS1
PAFAH1B1
|
| Scope Statement | Caused by mutation in the platelet-activating factor acetylhydrolase, isoform 1B, alpha subunit gene (PAFAH1B1, 601545.0001) [MOLECULAR BASIS]
Variable severity [MISCELLANEOUS]
De novo mutation [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 17p13.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 607432
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C0431375
C1848201
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |