Bio2Vec

BIO-KNOWLEDGE-GRAPH

A knowledge graph of biological entities such as genes, gene functions, diseases, phenotypes and chemicals. Embeddings are generated with Walking RDF and OWL method.

autosomal recessive spinocerebellar ataxia 18

ID: DOID:0080042

Type: http://bio2vec.net/ontology/disease

Label: autosomal recessive spinocerebellar ataxia 18

Synonyms: autosomal recessive spinocerebellar ataxia 18

Alternative IDs: als

API: GO

SPARQL: GO

Similar Entities

autosomal recessive spinocerebellar ataxia 18

DOID:0080042
Abnormality of the bed nucleus of stria terminalis

HP:0030798
Hodgkin'\''s paragranuloma involving spleen

DOID:8825
psychosexual dysfunction with inhibited sexual excitement

DOID:11954
obsolete Neoplasia of the nose

HP:0100637
Reduced volume of central subdivision of bed nucleus of stria terminalis

HP:0030797
obsolete IMP-GMP specific 5'\''-nucleotidase activity

GO:0017175
obsolete satellite DNA binding

GO:0006329
localized extrahepatic bile duct cancer

DOID:5934
Proximal upper limb amyotrophy

HP:0008948
urinary tract infiltrating transitional cell carcinoma

DOID:3997
resectable bile duct cancer

DOID:5933
obsolete natural killer cell receptor activity

GO:0045233
negative regulation of basophil differentiation

GO:0045641
autosomal recessive spinocerebellar ataxia 16

DOID:0080029
Irregular epiphysis of the proximal phalanx of the 5th toe

HP:0100229
obsolete m-cresol biosynthetic process

GO:0046200
obsolete positive regulation of regulation of insulin secretion involved in cellular response to glucose stimulus

GO:2000530
Pseudoepiphysis of the distal phalanx of the 2nd finger

HP:0009509
cerebellar ataxia

DOID:0050997
protein localization to photoreceptor connecting cilium

GO:1903621
cellotriose transport

GO:2001096
malnutrition of moderate degree

DOID:11955
SCA18

http://www.ncbi.nlm.nih.gov/gene/94008
obsolete regulation of transcription involved in S phase of mitotic cell cycle

GO:0000115
recurrent ovarian germ cell neoplasm

DOID:7855
Periventricular white matter hypodensities

HP:0012794
regulation of basophil differentiation

GO:0045640
Unilateral facial palsy

HP:0012799
Fragmentation of the epiphysis of the proximal phalanx of the 5th toe

HP:0100228
obsolete regulation of transcription involved in G2-phase of mitotic cell cycle

GO:0000116
Hypometric horizontal saccades

HP:0007975
autosomal recessive spinocerebellar ataxia 10

DOID:0050999
obsolete regulation of S phase of mitotic cell cycle

GO:0007090
lysosomal proton-transporting V-type ATPase

GO:0046610
Increased ratio of VWF propeptide to VWF antigen

HP:0040240
obsolete induction by organism of symbiont apoptosis

GO:0052387
papilledema associated with retinal disorder

DOID:145
Type D brachydactyly

HP:0005627
Telangiectases in sun-exposed and nonexposed skin

HP:0007561
central nervous system dermoid cyst

DOID:5116
beta-glucogallin-tetrakisgalloylglucose O-galloyltransferase activity

GO:0047176
citrullinase activity

GO:0047781
amyloplast ADPG pyrophosphorylase complex

GO:0030932
protein localization to subtelomeric heterochromatin

GO:1903213
regulation of eosinophil differentiation

GO:0045643
autosomal recessive spinocerebellar ataxia 7

DOID:0080059
coenzyme F420-dependent bicyclic nitroimidazole catabolic process

GO:0052799
mononeuritis of upper limb

DOID:1844
Irregular epiphysis of the distal phalanx of the 2nd finger

HP:0009507
obsolete negative regulation of Factor XII activation

GO:1905159
Fragmentation of the epiphysis of the distal phalanx of the 2nd finger

HP:0009506
phenylethylamine metabolic process involved in synaptic transmission

GO:0090507
high-mannose-oligosaccharide beta-1,4-N-acetylglucosaminyltransferase activity

GO:0033827
paranoid type schizophrenia subchronic state with acute exacerbation

DOID:1232
Decreased class-switched memory B cell count

HP:0030388
autosomal recessive spinocerebellar ataxia 20

DOID:0080066
phenylethylamine biosynthetic process involved in synaptic transmission

GO:0090508
Wolffian duct adenoma

DOID:2616
Bracket epiphysis of the proximal phalanx of the 5th toe

HP:0100225
Increased class-switched memory B cell count

HP:0030387
Ivory epiphysis of the distal phalanx of the 2nd finger

HP:0009508
Abnormality of thromboxane metabolism

HP:0030389
mitochondrial complex II deficiency

DOID:0060537
cardiac fibroblast cell development

GO:0060936
positive regulation of basophil differentiation

GO:0045642
Poor Prognosis metastatic Gestational Trophoblastic tumor

DOID:3589
horned turban snail allergy

DOID:0060531
Pelvic girdle amyotrophy

HP:0008946
protein localization to mating-type region heterochromatin

GO:1903212
Congenital cardiovascular disorder of mother

DOID:11952
Enlarged epiphysis of the distal phalanx of the 2nd finger

HP:0009505
ghrelin secretion

GO:0036321
penis mixed squamous cell carcinoma

DOID:8009
regulation of systemic arterial blood pressure by carotid body chemoreceptor signaling

GO:0003027
vestibular receptor cell development

GO:0060118
Multiple mitochondrial DNA deletions

HP:0003689
Bracket epiphysis of the distal phalanx of the 2nd finger

HP:0009503
negative regulation of eosinophil differentiation

GO:0045644
obsolete ALP binding

GO:0051411
Warsaw breakage syndrome

DOID:0060535
Small epiphysis of the middle phalanx of the 5th toe

HP:0100221
Abnormality of lateral pterygoid muscle

HP:3000068
xylotriose transport

GO:2001094
Cone-shaped epiphysis of the proximal phalanx of the 5th toe

HP:0100226
no_name

GO:1902658
autosomal recessive spinocerebellar ataxia 19

DOID:0080065
negative regulation of violaceol I biosynthetic process

GO:1900714
Myelin tomacula

HP:0030175
shikimate O-hydroxycinnamoyltransferase activity

GO:0047172
SPG36

http://www.ncbi.nlm.nih.gov/gene/791228
EEG with periodic abnormalities

HP:0010857
epiboly involved in wound healing

GO:0090505
obsolete AT binding

GO:0006328
Distal sensory loss of all modalities

HP:0006984
snail allergy

DOID:0060530
high mobility group box 1 receptor activity

GO:0070380
HLA-C specific inhibitory MHC class I receptor activity

GO:0030110
Chronic CSF lymphocytosis

HP:0009704
Absent epiphysis of the proximal phalanx of the 5th toe

HP:0100224

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