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Metadata
ID DOID:0110725
Name neuronal ceroid lipofuscinosis 10
Definition A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15.
https://www.ncbi.nlm.nih.gov/pubmed/16685649
Xrefs

GARD:1218

ICD10CM:E75.4

OMIM:610127

ORDO:228337

Subsets

DO_rare_slim

Synonyms

Cathepsin D deficiency [EXACT]

CLN10 [EXACT]

neuronal ceroid lipofuscinosis cathepsin D-deficient [EXACT]

neuronal ceroid lipofuscinosis due to cathepsin D deficiency [EXACT]

Parent Relationships

is_a neuronal ceroid lipofuscinosis

is_a autosomal recessive disease

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