Spinal muscular atrophy, ryukyuan type

Preferred Label : Spinal muscular atrophy, ryukyuan type;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive; ? same as Kugelberg-Welander disease;

Prefixed ID : 271200;

Details

Origin ID

271200;

UMLS CUI

C1849102;

Currated CISMeF NLP mapping
- Spinal muscular atrophy, Ryukyuan type [MeSH concept]
- spinal muscular atrophy, ryukyuan type [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Fasciculations [HPO term]
- Infantile onset [HPO term]
- Kyphoscoliosis [HPO term]
- Pes cavus [HPO term]
- Proximal amyotrophy [HPO term]
- Spinal muscular atrophy [HPO term]
- Symmetric proximal muscular atrophy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinal muscular atrophy, Ryukyuan type [MeSH concept]
- spinal muscular atrophy, ryukyuan type [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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