Wicipedia

Jansky–Bielschowsky disease

Creu erthygl

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autosomal recessive genetic disorder

Adnoddau allanol

WikiProjectMed ID
Jansky–Bielschowsky disease
dynodwr Microsoft Academic
2778444382
Mondo ID
MONDO_0015674
UMLS CUI
C0022340[1]

mapping relation type: exact match

ICD-10-CM
E75.4[1]
dynodwr KEGG
H02278
ICD-9 ID
330.1
Orphanet ID
168491[1]

mapping relation type: exact match

ICD-10 ID
E75.4
DiseasesDB
31535
dynodwr Freebase
/m/043n8mh[2]

enghraifft o'r canlynol

clefyd prin
dosbarth o glefyd

isddosbarth o'r canlynol

neuronal ceroid lipofuscinosis[1]

enwyd ar ôl

Jan Janský
Max Bielschowsky

arbenigedd meddygol

endocrinoleg

genetic association

MFSD8[3]
CLN6[4][5]
CLN5[6]

cysyniad o'r un fath

http://www.orpha.net/ORDO/Orphanet_168491

Cyfeiriadau

  1. ↑ 1.0 1.1 1.2 1.3 Monarch Disease Ontology release 2018-06-29, 3 Gorffennaf 2018, MONDO_0015674
  2. ↑ Freebase Data Dumps, 28 Hydref 2013
  3. ↑ The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
  4. ↑ Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
  5. ↑ The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein
  6. ↑ CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis
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