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neuroectodermal melanolysosomal disease

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.
Uniprot Description Autosomal recessive condition characterized by skin hypopigmentation, the presence of large clumps of pigment in hair shafts, silvery-gray hair, accumulation of melanosomes in melanocytes and primary neurological abnormalities. Elejalde syndrome may be the same entity as Griscelli syndrome type I.
Mondo Term and Equivalent IDs
MONDO:0009742:  neuroectodermal melanolysosomal disease
MESH:C536203: 
Orphanet:33445: 
SCTID:724091002: 
UMLS:C1860157: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found