Immunoneurologic disorder, X-linked

Preferred Label : Immunoneurologic disorder, X-linked;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Woods-black-norbury syndrome;

Inheritance : X-linked dominant;

Prefixed ID : %300076;

Details

Origin ID

300076;

UMLS CUI

C1848144;

CISMeF manual mappings
- X-linked immunoneurologic disorder (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Woods Black Norbury syndrome [MeSH concept]
- X-linked immunoneurologic disorder [ORDO Disease]
- woods black norbury syndrome [MeSH Supplementary Concept]
HPO term(s)
- Brisk reflexes [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Functional abnormality of the bladder [HPO term]
- Low birth weight in males [HPO term]
- Neonatal death [HPO term]
- Neonatal hypotonia [HPO term]
- Nyctalopia [HPO term]
- Progressive proximal muscle weakness [HPO term]
- Slowly progressive proximal muscle weakness [HPO term]
- Small for gestational age [HPO term]
- Spastic paraplegia [HPO term]
- X-linked dominant inheritance [HPO term]
ORDO concept(s)
- X-linked immunoneurologic disorder [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Woods Black Norbury syndrome [MeSH concept]
- X-linked immunoneurologic disorder [ORDO Disease]
- X-linked immunoneurologic disorder (disorder) [SNOMED CT concept]
- woods black norbury syndrome [MeSH Supplementary Concept]

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