juvenile neuronal ceroid lipofuscinosis

This is an automatic view based on data from Wikidata.
There is not a complete article yet, but you can help creating one.

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

External resources

Freebase ಐಡಿ	/m/06qtcn^[೧]
Microsoft Academic ID	2778230176
Mondo ID	MONDO_0019262
Orphanet ID	79264^[೨] mapping relation type: exact match
YSO ID	22663^[೩] subject named as: JNCL-tauti, Spielmeyer-Vogts sjukdom, juvenile neuronal ceroid lipofuscinosis
KEGG ID	H02275
PatientsLikeMe condition ID	batten-disease
UMLS CUI	C0751383^[೨] mapping relation type: close match
UK Parliament thesaurus ID	419185 subject named as: Batten disease
DiseasesDB	31534
OpenAlex ID	C2778230176^[೪]
ICD-10-CM	E75.4^[೨]
OMIM ID	204200
ICD-10 ID	E75.4
ICD-9 ID	330.1
WikiProjectMed ID	Batten disease
Disease Ontology ID

rare disease

class of disease

neuronal ceroid lipofuscinosis^[೨]

Frederick Batten

CTSD^[೫]

CLN8^[೬]

CLN3^[೭]

PPT1^[೮]

TPP1^[೯]

WikiProject Medicine

T99

Batten disease

↑ Freebase Data Dumps, ೨೮ ಅಕ್ಟೋಬರ್ 2013
↑ ^೨.೦ ^೨.೧ ^೨.೨ ^೨.೩ Monarch Disease Ontology release 2018-06-29, ೩ ಜುಲೈ 2018, MONDO_0019262
↑ YSO-Wikidata mapping project, ೨ ಫೆಬ್ರವರಿ 2022
↑ OpenAlex, ೨೬ ಜನವರಿ 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
↑ Cathepsin D deficiency is associated with a human neurodegenerative disorder
↑ Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
↑ Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium
↑ Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
↑ Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis