(Q1753778)

Cathepsin D deficiency is associated with a human neurodegenerative disorder

3 July 2018

0 references

0 references

1 reference

CLN8

1 reference

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

CLN3

1 reference

Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

PPT1

1 reference

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

TPP1

1 reference

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

on focus list of Wikimedia project

WikiProject Medicine

0 references

ICPC 2 ID

T99

1 reference

http://purl.obolibrary.org/obo/DOID_0050756

Spanish Wikipedia

exact match

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0050756

1 reference

https://registry.identifiers.org/registry/doid

Identifiers.org

reference URL

http://www.orpha.net/ORDO/Orphanet_79264

0 references

Commons category

Batten disease

0 references

Identifiers

PatientsLikeMe condition ID

0 references

0 references

1 reference

30 November 2020

1 reference

1 reference

28 October 2013

1 reference

1 reference

3 July 2018

1 reference

English Wikipedia

Microsoft Academic ID

0 references

0 references

1 reference

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

26 January 2022

Orphanet ID

79264

mapping relation type

exact match

1 reference

UK Parliament thesaurus ID

retrieved

3 July 2018

Mondo ID

MONDO_0019262

419185

subject named as

Batten disease

0 references

UMLS CUI

C0751383

mapping relation type

close match

1 reference

3 July 2018

0 references

JNCL-tauti

Spielmeyer-Vogts sjukdom

juvenile neuronal ceroid lipofuscinosis

1 reference