Lissencephaly 2

Preferred Label : Lissencephaly 2;

Symbol : LIS2;

CISMeF acronym : LIS2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Norman-roberts syndrome; Lissencephaly syndrome, norman-roberts type;

Inheritance : Autosomal recessive;

Prefixed ID : #257320;

Détails

Origin ID

257320;

UMLS CUI

C0796089;

Automatic exact mappings (from CISMeF team)
- Microlissencephaly type A [ICD-11 More detail]
- Norman-Roberts syndrome [DO Concept]
- PAFAH1B1 wt Allele [NCIt concept]
- RELN wt Allele [NCIt concept]
- platelet activating factor acetylhydrolase 1b regulatory subunit 1 pseudogene 1 [HGNC gene]
Currated CISMeF NLP mapping
- Cobblestone lissencephaly [ORDO Disease]
- Lissencephaly syndrome Norman Roberts type (disorder) [SNOMED CT concept]
- Lissencephaly syndrome, Norman-Roberts type [ORDO Disease]
- Lissencephaly type 2 [ICD-11 More detail]
- Norman Roberts lissencephaly syndrome [MeSH concept]
- Type 2 lissencephaly (disorder) [SNOMED CT concept]
- Type II lissencephaly [HPO term]
- cobblestone lissencephaly [MeSH Descriptor]
- cobblestone lissencephaly [MeSH concept]
- lissencephaly 2 [Disease (Nov.)]
- norman roberts lissencephaly syndrome [MeSH Supplementary Concept]
DO Cross reference
- Norman-Roberts syndrome [DO Concept]
Genes related to phenotype
- Reelin [OMIM gene]
HPO term(s)
- 4-layered lissencephaly [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hypoplasia of the pons [HPO term]
- Hypotonia [HPO term]
- Lissencephaly [HPO term]
- Low, sloping forehead [HPO term]
- Lymphedema [HPO term]
- Microcephaly [HPO term]
- Prominent nasal bridge [HPO term]
- Sloping forehead [HPO term]
- Thick cerebral cortex [HPO term]
ORDO concept(s)
- Lissencephaly syndrome, Norman-Roberts type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lissencephaly syndrome Norman Roberts type (disorder) [SNOMED CT concept]
- Lissencephaly syndrome, Norman-Roberts type [ORDO Disease]
- Norman Roberts lissencephaly syndrome [MeSH concept]
- Norman-Roberts syndrome [DO Concept]
- norman roberts lissencephaly syndrome [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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