Cerebral palsy, spastic quadriplegic, 2

Preferred Label : Cerebral palsy, spastic quadriplegic, 2;

Symbol : CPSQ2;

CISMeF acronym : CPSQ2;

Type : Phenotype, molecular basis known;

Prefixed ID : #612900;

Details

Origin ID

612900;

UMLS CUI

C2752061;

Automatic exact mappings (from CISMeF team)
- Inherited congenital spastic tetraplegia [ORDO Disease]
Currated CISMeF NLP mapping
- cerebral palsy, spastic quadriplegic, 2 [MeSH concept]
- cerebral palsy, spastic quadriplegic, 2 [MeSH Supplementary Concept]
DO Cross reference
- spastic quadriplegia [DO Concept]
Genes related to phenotype
- Kn motif- and ankyrin repeat domain-containing protein 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance with maternal imprinting [HPO term]
- Cerebral atrophy [HPO term]
- Cerebral palsy [HPO term]
- Congenital onset [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Nystagmus [HPO term]
- Spastic tetraplegia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Inherited congenital spastic tetraplegia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- cerebral palsy, spastic quadriplegic, 2 [MeSH Supplementary Concept]
- cerebral palsy, spastic quadriplegic, 2 [MeSH concept]

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