Lopes-maciel-rodan syndrome

Preferred Label : Lopes-maciel-rodan syndrome;

Symbol : LOMARS;

CISMeF acronym : LOMARS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the huntingtin gene (HTT, 613004.0002);

Prefixed ID : #617435;

Détails

Origin ID

617435;

UMLS CUI

C4479491;

Automatic exact mappings (from CISMeF team)
- lomar [MeSH concept]
Genes related to phenotype
- Huntingtin [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Absent speech [HPO term]
- Agitation [HPO term]
- Ankle clonus [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bradykinesia [HPO term]
- Bruxism [HPO term]
- Caudate atrophy [HPO term]
- Cerebellar atrophy [HPO term]
- Cerebral atrophy [HPO term]
- Developmental regression [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Feeding difficulties [HPO term]
- Global developmental delay [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Intellectual disability, severe [HPO term]
- Kyphosis [HPO term]
- Myopia [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Short foot [HPO term]
- Small hand [HPO term]
- Spasticity [HPO term]
- Tremor [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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

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