Metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a

Preferred Label : Metachromatic leukodystrophy, adult-onset, with normal arylsulfatase a;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Laboratory abnormalities : Normal arylsulfatase A levels;

Prefixed ID : 156310;

Details

Origin ID

156310;

UMLS CUI

C1835007;

Automatic exact mappings (from CISMeF team)
- metachromatic leukodystrophy, Adult-Onset, with normal arylsulfatase A [MeSH concept]
- metachromatic leukodystrophy, Adult-Onset, with normal arylsulfatase A [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Metachromatic leukodystrophy [ORDO Disease]
HPO term(s)
- Abnormality of the autonomic nervous system [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Hypotension [HPO term]
- Metachromatic leukodystrophy variant [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Metachromatic leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- metachromatic leukodystrophy, Adult-Onset, with normal arylsulfatase A [MeSH Supplementary Concept]
- metachromatic leukodystrophy, Adult-Onset, with normal arylsulfatase A [MeSH concept]

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