Leukodystrophy, hypomyelinating, 9

Preferred Label : Leukodystrophy, hypomyelinating, 9;

Symbol : HLD9;

CISMeF acronym : HLD9;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the arginyl-tRNA synthetase 1 gene (RARS1, 107820.0001);

Prefixed ID : #616140;

Détails

Origin ID

616140;

UMLS CUI

C4015323;

CISMeF manual mappings
- hypomyelinating leukodystrophy 9 [DO Concept]
Currated CISMeF NLP mapping
- Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) [SNOMED CT concept]
- RARS-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
DO Cross reference
- hypomyelinating leukodystrophy 9 [DO Concept]
Genes related to phenotype
- Arginyl-trna synthetase 1 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Intention tremor [HPO term]
- Leukodystrophy [HPO term]
- Microcephaly [HPO term]
- Nystagmus [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- RARS-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Arginyl-tRNA synthetase 1-related autosomal recessive hypomyelinating leukodystrophy (disorder) [SNOMED CT concept]
- RARS-related autosomal recessive hypomyelinating leukodystrophy [ORDO Disease]
- hypomyelinating leukodystrophy 9 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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