Friedreich ataxia 2

Preferred Label : Friedreich ataxia 2;

Symbol : FRDA2;

CISMeF acronym : FRDA2;

Type : Phenotype or locus, molecular basis unknown;

Description : Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see;

Inheritance : Autosomal recessive;

Prefixed ID : %601992;

Details

Origin ID

601992;

UMLS CUI

C1865981;

Automatic exact mappings (from CISMeF team)
- Friedreich ataxia 2 [DO Concept]
- Friedreich ataxia 2 [HGNC gene]
Currated CISMeF NLP mapping
- friedreich ataxia 2 [MeSH concept]
- friedreich ataxia 2 [MeSH Supplementary Concept]
DO Cross reference
- Friedreich ataxia 2 [DO Concept]
HPO term(s)
- Abnormal EKG [HPO term]
- Abnormal echocardiogram [HPO term]
- Abnormality of peripheral nerve conduction [HPO term]
- Abnormality of the dorsal column of the spinal cord [HPO term]
- Abnormality of the medulla oblongata [HPO term]
- Abnormality of the spinocerebellar tracts [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Concentric hypertrophic cardiomyopathy [HPO term]
- Congestive heart failure [HPO term]
- Decreased pyruvate carboxylase activity [HPO term]
- Diabetic ketoacidosis [HPO term]
- Dysarthria [HPO term]
- Hammertoe [HPO term]
- Impaired vibratory sensation [HPO term]
- Incoordination [HPO term]
- Juvenile onset [HPO term]
- Limb incoordination [HPO term]
- Mitochondrial malic enzyme reduced [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Muscular subvalvular aortic stenosis [HPO term]
- Nystagmus [HPO term]
- Pes cavus [HPO term]
- Reduced tendon reflexes [HPO term]
- Scoliosis [HPO term]
- Symmetric, concentric, hypertrophic cardiomyopathy [HPO term]
ORDO concept(s)
- Friedreich ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- friedreich ataxia 2 [MeSH Supplementary Concept]
- friedreich ataxia 2 [MeSH concept]

Keyword's position in hierarchy(ies) :

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