Spinocerebellar ataxia, X-linked 3

Preferred Label : Spinocerebellar ataxia, X-linked 3;

CISMeF acronym : SCAX3;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Ataxia-deafness syndrome, X-linked; SCAX3;

Description : For a discussion of genetic heterogeneity of X-linked spinocerebellar ataxia (SCAX), see SCAX1 (302500).;

Inheritance : X-linked recessive;

Prefixed ID : 301790;

Details

Origin ID

301790;

UMLS CUI

C1844936;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia, X-linked, 3 [MeSH concept]
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
- X-linked spinocerebellar ataxia type 3 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia, X-linked, 3 [MeSH Supplementary Concept]
DO Cross reference
- X-linked spinocerebellar ataxia 3 [DO Concept]
HPO term(s)
- Areflexia [HPO term]
- Cerebellar atrophy [HPO term]
- Death in early childhood [HPO term]
- Death in infancy [HPO term]
- Dementia [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Episodic hypoventilation [HPO term]
- Episodic respiratory distress [HPO term]
- Esotropia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Gliosis [HPO term]
- Global developmental delay [HPO term]
- Head titubation [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Infantile onset [HPO term]
- Intention tremor [HPO term]
- Lethargy [HPO term]
- Muscle weakness [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Optic atrophy [HPO term]
- Optic disc pallor [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Spasticity [HPO term]
- Unilateral vocal cord paralysis [HPO term]
- Vomiting [HPO term]
- Weakness [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia, X-linked, 3 [MeSH concept]
- X-linked spinocerebellar ataxia type 3 [ORDO Disease]
- X-linked spinocerebellar ataxia type 3 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia, X-linked, 3 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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