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 17

ID: DOID:0080064

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

Label: autosomal recessive spinocerebellar ataxia 17

Synonyms: autosomal recessive spinocerebellar ataxia 17

Alternative IDs: als

API: GO

SPARQL: GO

Similar Entities

autosomal recessive spinocerebellar ataxia 17

DOID:0080064
autosomal recessive spinocerebellar ataxia 11

DOID:0080063
autosomal recessive spinocerebellar ataxia 15

DOID:0080057
autosomal recessive spinocerebellar ataxia 19

DOID:0080065
autosomal recessive spinocerebellar ataxia 13

DOID:0080062
autosomal recessive spinocerebellar ataxia 20

DOID:0080066
autosomal recessive spinocerebellar ataxia 2

DOID:0080061
ataxia with oculomotor apraxia type 3

DOID:0060557
autosomal recessive spinocerebellar ataxia 14

DOID:0080058
autosomal recessive spinocerebellar ataxia 7

DOID:0080059
autosomal recessive spinocerebellar ataxia 10

DOID:0050999
fragile X-associated tremor/ataxia syndrome

DOID:0050879
autosomal recessive spinocerebellar ataxia 12

DOID:0080060
autosomal recessive spinocerebellar ataxia 16

DOID:0080029
cerebellar ataxia

DOID:0050997
autosomal recessive cerebellar ataxia

DOID:0050950
X-linked hereditary ataxia

DOID:0050953
Progressive cerebellar ataxia

HP:0002073
hereditary ataxia

DOID:0050951
autosomal recessive spinocerebellar ataxia 18

DOID:0080042
spastic ataxia

DOID:0050952
Charlevoix-Saguenay spastic ataxia

DOID:0050946
Atrophy of the dentate nucleus

HP:0007047
Spastic ataxia

HP:0002497
Abnormality of the dentate nucleus

HP:0100321
spinocerebellar ataxia type 5

DOID:0050882
Asynergia

HP:0010869
infantile cerebellar-retinal degeneration

DOID:0050883
Abasia

HP:0012651
Cerebellar dysplasia

HP:0007033
Olivopontocerebellar atrophy

HP:0002542
Cerebellar Purkinje layer atrophy

HP:0012082
Spinocerebellar atrophy

HP:0007263
deep leiomyoma

DOID:5128
Abnormality of the superior cerebellar peduncle

HP:0011932
RNF20

http://www.ncbi.nlm.nih.gov/gene/56254
benign pericardial teratoma

DOID:8012
Elongated superior cerebellar peduncle

HP:0011933
episodic ataxia type 7

DOID:0050995
amyotrophic lateral sclerosis type 20

DOID:0060211
Enlarged cerebellum

HP:0012081
nerve plexus neoplasm

DOID:4693
Enlarged epiphyses of the middle phalanges of the hand

HP:0010260
Renal fibrosis

HP:0030760
Irregular epiphyses of the middle phalanges of the hand

HP:0010262
tongue squamous cell carcinoma

DOID:0050865
bilateral hypoactive labyrinth

DOID:565
Dysgenesis of the cerebellar vermis

HP:0002195
Abnormality of the brainstem white matter

HP:0012501
Dyssynergia

HP:0010867
negative regulation of immunoglobulin mediated immune response

GO:0002890
protein localization to chloroplast starch grain

GO:1904160
protein K11-linked ubiquitination

GO:0070979
plasma membrane raft localization

GO:0044856
Fusion of the cerebellar hemispheres

HP:0006899
histone monoubiquitination

GO:0010390
regulation of termination of RNA polymerase I transcription

GO:2000730
Hodgkin'\''s lymphoma

DOID:8847
Ocular dyssynergia

HP:0010868
obsolete negative regulation of cholesterol homeostasis

GO:1904166
Abnormal fucosylation of protein N-linked glycosylation

HP:0012352
Abnormality of the cerebellar peduncle

HP:0011931
Morphological abnormality of the nerves of the inner ear

HP:0011391
2-alkenal reductase [NAD(P)] activity

GO:0032440
obsolete regulation of synapse

GO:0007273
Behcet'\''s syndrome arthropathy

DOID:1670
oxyphilic endometrial endometrioid adenocarcinoma

DOID:6865
Poorly formed metencephalon

HP:0007027
Cerebellar granular layer atrophy

HP:0012080
negative regulation of transcription from RNA polymerase II promoter in response to iron

GO:0034396
SureCN7904604

http://aber-owl.net/drug/CID046205139
non-congenital cyst of kidney

DOID:9621
Absent epiphyses of the proximal phalanges of the hand

HP:0010268
Recurrent subcortical infarcts

HP:0007236
Decreased sialylation of N-linked protein glycosylation

HP:0012350
Posterior vitreous detachment

HP:0001489
Abnormality of the epiphyses of the middle phalanges of the hand

HP:0010244
Agenesis of cerebellar vermis

HP:0002335
Tortuosity of conjunctival vessels

HP:0000503
negative regulation of termination of RNA polymerase I transcription

GO:2000731
Decreased number of large peripheral myelinated nerve fibers

HP:0003387
Abnormal sialylation of N-linked protein glycosylation

HP:0012349
regulation of histone H3-K9 trimethylation

GO:1900112
anaplastic intraspinal meningioma

DOID:5611
Pseudoepiphyses of the middle phalanges of the hand

HP:0010264
protein localization to photoreceptor connecting cilium

GO:1903621
Atrophic superior cerebellar peduncle

HP:0030286
Dysmetria

HP:0001310
ataxia with oculomotor apraxia type 2

DOID:0050755
Decreased fucosylation of O-linked protein glycosylation

HP:0012360
dioctophymiasis

DOID:0050260
Transient hypogammaglobulinemia of infancy

HP:0005432
Aplasia of the musculature

HP:0100854
protein autoubiquitination

GO:0051865
Segmental peripheral demyelination/remyelination

HP:0003481
Absent epiphyses of the distal phalanges of the hand

HP:0010246
diplegia of upper limb

DOID:862
Irregular epiphyses of the distal phalanges of the hand

HP:0010251
Pica

HP:0011856
neuromast regeneration

GO:0070657

Neighbourhood Visualization