Cerebellar ataxia, cayman type

Preferred Label : Cerebellar ataxia, cayman type;

Symbol : ATCAY;

CISMeF acronym : ATCAY;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Prefixed ID : #601238;

Détails

Origin ID

601238;

UMLS CUI

C1832585;

CISMeF manual mappings
- Cerebellar ataxia Cayman type (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cayman type cerebellar ataxia [DO Concept]
- Cerebellar ataxia, Cayman type [ORDO Disease]
- cerebellar ataxia, cayman type [MeSH concept]
- cerebellar ataxia, cayman type [MeSH Supplementary Concept]
DO Cross reference
- Cayman type cerebellar ataxia [DO Concept]
Genes related to phenotype
- Caytaxin [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad-based gait [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypotonia [HPO term]
- Intention tremor [HPO term]
- Nystagmus [HPO term]
- Psychomotor retardation [HPO term]
Not associated HPO term(s)
- Abnormal retinal morphology [HPO term]
ORDO concept(s)
- Cerebellar ataxia, Cayman type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cayman type cerebellar ataxia [DO Concept]
- Cerebellar ataxia Cayman type (disorder) [SNOMED CT concept]
- Cerebellar ataxia, Cayman type [ORDO Disease]
- cerebellar ataxia, cayman type [MeSH Supplementary Concept]
- cerebellar ataxia, cayman type [MeSH concept]

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