Schizophrenia 15

Preferred Label : Schizophrenia 15;

Symbol : SCZD15;

CISMeF acronym : SCZD15;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Schizophrenia susceptibility locus, chromosome 22q13-related; Schizophrenia 15 with or without an affective disorder;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SH3 and multiple ankyrin repeat domains 3 gene (SHANK3, 606230.0002);

Prefixed ID : #613950;

Details

Origin ID

613950;

UMLS CUI

C3151380;

Automatic exact mappings (from CISMeF team)
- SHANK3 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- schizophrenia 15 [DO Concept]
DO Cross reference
- schizophrenia 15 [DO Concept]
Genes related to phenotype
- Sh3 and multiple ankyrin repeat domains 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Hyperactivity [HPO term]
- Polygenic inheritance [HPO term]
- Schizophrenia [HPO term]
ORDO concept(s)
- Schizophrenia [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- schizophrenia 15 [DO Concept]

Keyword's position in hierarchy(ies) :

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