serine protease 12

Preferred Label : serine protease 12;

Approved symbol HGNC : PRSS12;

Name synonyms HGNC : motopsin; autosomal recessive 1; brain-specific serine protease 3; mental retardation; neurotrypsin;

Alias symbols HGNC : MRT1; BSSP-3;

Chromosome HGNC : 4q26;

Locus type HGNC : protein-coding gene;

Ensembl Id : ENSG00000164099;

Détails

Origin ID

HGNC:9477;

UMLS CUI

C1418967;

Automatic exact mappings (from CISMeF team)
- Disorders of intellectual development [ICD-11 Category]
- Intellectual developmental disorder, autosomal recessive 1 [OMIM Phenotype]
- Intellectual disability [HPO term]
- Intellectual disability (disorder) [SNOMED CT concept]
- Mental Retardation [NCIt concept]
- Mental retardation [PASCAL descriptor]
- Mental retardation [MedDRA LLT]
- Mental retardation [DSM-IV chapter]
- Persons with Intellectual Disabilities [MeSH Descriptor]
- Protease, serine, 12 [OMIM gene]
- Retardation mental [MedDRA LLT]
- developmental disabilities [MedlinePlus Topic]
- intellectual disability [MeSH Descriptor]
- intellectual disability [DO Concept]
- intellectual disability [MeSH concept]
- mental retardation [ICPC-2 Rubric]
- mental retardation [Radlex concept]
- motopsin [MeSH concept]
- neurotrypsin [MeSH concept]
- neurotrypsin [MeSH Supplementary Concept]
- serine protease 12 [ORDO Gene]
OMIM gene
- Protease, serine, 12 [OMIM gene]
Orphanet gene
- serine protease 12 [ORDO Gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
UMLS correspondences (same concept)
- Protease, serine, 12 [OMIM gene]

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