Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain

Preferred Label : Peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal recessive;

Prefixed ID : 260970;

Details

Origin ID

260970;

UMLS CUI

C1850022;

Currated CISMeF NLP mapping
- peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain [MeSH Supplementary Concept]
- peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain [MeSH concept]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebral degeneration [HPO term]
- Chronic axonal neuropathy [HPO term]
- Necrotizing encephalopathy [HPO term]
- Polyneuropathy [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain [MeSH Supplementary Concept]
- peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain [MeSH concept]

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