Friedreich ataxia and congenital glaucoma

Preferred Label : Friedreich ataxia and congenital glaucoma;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? 2 closely linked mutations;

Prefixed ID : 229310;

Details

Origin ID

229310;

UMLS CUI

C1856688;

Currated CISMeF NLP mapping
- Friedreich ataxia congenital glaucoma [MeSH concept]
- friedreich ataxia congenital glaucoma [MeSH Supplementary Concept]
HPO term(s)
- Abnormal EKG [HPO term]
- Abnormal echocardiogram [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 amplitude of sensory action potentials [HPO term]
- Decreased pyruvate carboxylase activity [HPO term]
- Developmental glaucoma [HPO term]
- Diabetic ketoacidosis [HPO term]
- Dysarthria [HPO term]
- Hammertoe [HPO term]
- Hypertrophic cardiomyopathy [HPO term]
- Impaired vibratory sensation [HPO term]
- Juvenile onset [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]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Friedreich ataxia congenital glaucoma [MeSH concept]
- friedreich ataxia congenital glaucoma [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients