Spastic ataxia 7, autosomal dominant

Preferred Label : Spastic ataxia 7, autosomal dominant;

Symbol : SPAX7;

CISMeF acronym : SPAX7;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Miosis, congenital, with spastic ataxia; Spastic ataxia with congenital miosis;

Description : For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).;

Inheritance : Autosomal dominant;

Prefixed ID : %108650;

Détails

Origin ID

108650;

UMLS CUI

C1862441;

Currated CISMeF NLP mapping
- Spastic ataxia with congenital miosis [ORDO Disease]
- Spastic ataxia with congenital miosis (disorder) [SNOMED CT concept]
- ataxia, spastic, with congenital miosis [MeSH Supplementary Concept]
- ataxia, spastic, with congenital miosis [MeSH concept]
DO Cross reference
- spastic ataxia 7 [DO Concept]
HPO term(s)
- Abnormal conjugate eye movement [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Congenital miosis [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Hyperreflexia [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Spastic ataxia [HPO term]
ORDO concept(s)
- Spastic ataxia with congenital miosis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spastic ataxia with congenital miosis [ORDO Disease]
- Spastic ataxia with congenital miosis (disorder) [SNOMED CT concept]
- ataxia, spastic, with congenital miosis [MeSH Supplementary Concept]
- ataxia, spastic, with congenital miosis [MeSH concept]

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