Metadata | |
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ID | DOID:0110726 |
Name | neuronal ceroid lipofuscinosis 2 |
Definition | A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. https://www.ncbi.nlm.nih.gov/pubmed/15965709, https://www.ncbi.nlm.nih.gov/pubmed/18684116 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
CLN2 [EXACT] neuronal ceroid lipofuscinosis 2 variable age at onset [EXACT] |
Parent Relationships |