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.

mitochondrial DNA depletion syndrome 12

ID: DOID:0080130

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

Label: mitochondrial DNA depletion syndrome 12

Synonyms: mitochondrial DNA depletion syndrome 12

Alternative IDs: als

API: GO

SPARQL: GO

Similar Entities

mitochondrial DNA depletion syndrome 12

DOID:0080130
Sengers syndrome

DOID:0080132
mitochondrial DNA depletion syndrome 13

DOID:0080131
multiple mitochondrial dysfunctions syndrome 4

DOID:0080136
mitochondrial complex III deficiency nuclear type 3

DOID:0080112
mitochondrial DNA depletion syndrome 5

DOID:0080124
mitochondrial DNA depletion syndrome 1

DOID:0080119
mitochondrial DNA depletion syndrome 2

DOID:0080120
mitochondrial complex III deficiency nuclear type 4

DOID:0080113
multiple mitochondrial dysfunctions syndrome 2

DOID:0080134
mitochondrial DNA depletion syndrome 3

DOID:0080121
multiple mitochondrial dysfunctions syndrome 1

DOID:0080133
multiple mitochondrial dysfunctions syndrome 3

DOID:0080135
mitochondrial DNA depletion syndrome 6

DOID:0080125
mitochondrial complex II deficiency

DOID:0060537
mitochondrial DNA depletion syndrome 9

DOID:0080128
mitochondrial complex III deficiency nuclear type 1

DOID:0080111
mitochondrial DNA depletion syndrome 8a

DOID:0080127
mitochondrial complex III deficiency nuclear type 2

DOID:0060351
mitochondrial complex III deficiency nuclear type 5

DOID:0080114
mitochondrial complex III deficiency nuclear type 6

DOID:0080115
orotic aciduria

DOID:0050833
mitochondrial complex III deficiency nuclear type 8

DOID:0080117
mitochondrial DNA depletion syndrome 7

DOID:0080126
mitochondrial metabolism disease

DOID:700
Pinhole visual acuity 0.7 LogMAR

HP:0030575
no_name

DOID:3563
mitochondrial DNA depletion syndrome 4a

DOID:0080122
mitochondrial complex III deficiency nuclear type 7

DOID:0080116
mitochondrial DNA depletion syndrome 11

DOID:0080129
Strongylus equinus infectious disease

DOID:3984
Unaided visual acuity 0.2 LogMAR

HP:0030537
Cystinuria

HP:0003131
Pinhole visual acuity 0.8 LogMAR

HP:0030576
mitochondrial complex III deficiency nuclear type 9

DOID:0080118
Pinhole visual acuity 0.1 LogMAR

HP:0030569
vaginal benign neoplasm

DOID:0060114
nuclear mRNA surveillance of spliceosomal pre-mRNA splicing

GO:0071030
mitochondrial complex I deficiency

DOID:0060536
Severe lactic acidosis

HP:0004900
Abnormality of cysteine metabolism

HP:0010918
ribophagy

GO:0034517
Unaided visual acuity 0.3 LogMAR

HP:0030538
Pinhole visual acuity 0.9 LogMAR

HP:0030577
fascioloidiasis

DOID:1217
negative regulation of coenzyme F420-dependent bicyclic nitroimidazole catabolic process

GO:1900289
positive regulation of gluconeogenesis by negative regulation of transcription from RNA polymerase II promoter

GO:0035949
Peripheral visual field constriction with >50 degrees central field preserved

HP:0030522
High nonceruloplasmin-bound serum copper

HP:0010838
old burn scar-related squamous cell carcinoma of skin

DOID:7931
Ileal atresia

HP:0011102
protein localization to chloroplast starch grain

GO:1904160
Intermittent lactic acidemia

HP:0004913
cellular response to tunicamycin

GO:1904577
Decreased marginal zone B cell count

HP:0030384
Argininuria

HP:0003268
Elevated intracellular cystine

HP:0003358
regulation of N'\'',N'\'''\'',N'\'''\'''\''-triacetylfusarinine C biosynthetic process

GO:1900695
monieziasis

DOID:931
Hyperoxaluria

HP:0003159
Hypervolemia

HP:0011105
obsolete inactivation of MAPK during sporulation (sensu Saccharomyces)

GO:0000206
Abnormality of blood volume homeostasis

HP:0011104
inborn errors fructose metabolism

DOID:5205
Absence of mature B cells

HP:0030252
positive regulation of sensory perception of sweet taste

GO:1904658
mitochondrial DNA depletion syndrome 4b

DOID:0080123
Jejunal diverticula

HP:0004786
negative regulation of ceramide biosynthetic process by negative regulation of transcription from RNA Polymerase II promoter

GO:0061427
Abnormal pinhole visual acuity test

HP:0030535
trigeminothalamic tract morphogenesis

GO:0021974
(E,E)-geranyllinalool synthase activity

GO:0080013
Distal ileal atresia

HP:0200116
White hair

HP:0011364
protein localization to bud neck

GO:0097271
histone H3-K14 acetylation

GO:0044154
Abnormal timing of dark-adapted bright flash electroretinogram

HP:0030477
High intestinal obstruction

HP:0005250
vitamin metabolic disorder

DOID:0050718
Pancreatic hypoplasia

HP:0002594
Neonatal intestinal obstruction

HP:0005234
regulation of sensory perception of sweet taste

GO:1904656
cervical large cell neuroendocrine carcinoma

DOID:6659
Abnormal best corrected visual acuity test

HP:0030534
no_name

GO:0018368
obsolete neutrophil collagenase activity

GO:0008130
vascular smooth muscle cell fate commitment

GO:0097081
mitochondrial RNA surveillance

GO:2000827
mitotic spindle-templated microtubule nucleation

GO:0090221
Toe extensor amyotrophy

HP:0011916
positive regulation of skeletal muscle hypertrophy

GO:1904206
2-hydroxyhexa-2,4-dienoate hydratase activity

GO:0034856
cytochrome-c oxidase deficiency disease

DOID:3762
schizo-affective type schizophrenia subchronic state with acute exacerbation

DOID:13969
Tongue nodules

HP:0000199
phosphopantothenate--cysteine ligase activity

GO:0004632
Chronic lactic acidosis

HP:0004925
Unaided visual acuity 0.4 LogMAR

HP:0030539
Renal calcium wasting

HP:0012637
Fragmentation of the epiphyses of the proximal phalanges of the hand

HP:0010272

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