Elejalde neuroectodermal melanolysosomal syndrome

Preferred Label : Elejalde neuroectodermal melanolysosomal syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Elejalde syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the myosin Va gene (MYO5A, 160777);

Prefixed ID : 256710;

Details

Origin ID

256710;

UMLS CUI

C3495588;

Currated CISMeF NLP mapping
- Acrocephalopolydactyly [ICD-11 More detail]
- Acrocephalopolydactyly [ORDO Disease]
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- Elejalde syndrome [PASCAL descriptor]
- Elejalde syndrome [Disease (Nov.)]
- Neuroectodermal melanolysosomal disease [ORDO Disease]
- Neuroectodermal melanolysosomal disease [ICD-11 More detail]
- Neuroectodermal melanolysosomal disease (disorder) [SNOMED CT concept]
- acrocephalopolydactylous dysplasia [MeSH Supplementary Concept]
- acrocephalopolydactylous dysplasia [MeSH concept]
- elejalde disease [MeSH concept]
- elejalde disease [MeSH Supplementary Concept]
HPO term(s)
- Accumulation of melanosomes in melanocytes [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Death in childhood [HPO term]
- Exotropia [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hypopigmentation of the skin [HPO term]
- Hypotonia [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Melanin pigment aggregation in hair shafts [HPO term]
- Nystagmus [HPO term]
- Seizure [HPO term]
- Silver-gray hair [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- Neuroectodermal melanolysosomal disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocephalopolydactyly (disorder) [SNOMED CT concept]
- Neuroectodermal melanolysosomal disease [ORDO Disease]
- Neuroectodermal melanolysosomal disease (disorder) [SNOMED CT concept]
- acrocephalopolydactylous dysplasia [MeSH concept]
- acrocephalopolydactylous dysplasia [MeSH Supplementary Concept]
- elejalde disease [MeSH Supplementary Concept]
- elejalde disease [MeSH concept]

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