juvenile neuronal ceroid lipofuscinosis

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Artiklit veel pole, kuid saad aidata seda luua.

extremely rare and fatal autosomal recessive neurodegenerative disorder in humans

Välised allikad

Freebase	/m/06qtcn^[1]
Microsoft Academic ID	2778230176
Mondo ID	MONDO_0019262
Orphanet ID	79264^[2] mapping relation type: täpne vaste
YSO tunnus	22663^[3] teema nimetus kujul: JNCL-tauti, Spielmeyer-Vogts sjukdom, juvenile neuronal ceroid lipofuscinosis
KEGG ID	H02275
PatientsLikeMe condition ID	batten-disease
UMLS CUI	C0751383^[2] mapping relation type: close match
UK Parliament thesaurus ID	419185 teema nimetus kujul: Batten disease
DiseasesDB	31534
OpenAlex ID	C2778230176^[4]
ICD-10-CM	E75.4^[2]
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^[2]

Frederick Batten

CTSD^[5]

CLN8^[6]

CLN3^[7]

PPT1^[8]

TPP1^[9]

T99

Batten disease

↑ Freebase Data Dumps, 28. oktoober 2013
↑ ^2,0 ^2,1 ^2,2 ^2,3 Monarch Disease Ontology release 2018-06-29, 3. juuli 2018, MONDO_0019262
↑ YSO-Wikidata mapping project, 2. veebruar 2022
↑ OpenAlex, 26. jaanuar 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