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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 complex III deficiency nuclear type 3

ID: DOID:0080112

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

Label: mitochondrial complex III deficiency nuclear type 3

Synonyms: mitochondrial complex III deficiency nuclear type 3

Alternative IDs: als

API: GO

SPARQL: GO

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mitochondrial complex III deficiency nuclear type 3

DOID:0080112
mitochondrial DNA depletion syndrome 13

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mitochondrial complex III deficiency nuclear type 1

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mitochondrial DNA depletion syndrome 1

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mitochondrial complex III deficiency nuclear type 4

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multiple mitochondrial dysfunctions syndrome 4

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mitochondrial DNA depletion syndrome 12

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mitochondrial DNA depletion syndrome 2

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mitochondrial DNA depletion syndrome 8a

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multiple mitochondrial dysfunctions syndrome 2

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mitochondrial complex III deficiency nuclear type 7

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Sengers syndrome

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mitochondrial complex III deficiency nuclear type 2

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mitochondrial complex III deficiency nuclear type 5

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multiple mitochondrial dysfunctions syndrome 1

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mitochondrial DNA depletion syndrome 9

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mitochondrial complex III deficiency nuclear type 8

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mitochondrial complex III deficiency nuclear type 6

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multiple mitochondrial dysfunctions syndrome 3

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mitochondrial DNA depletion syndrome 7

DOID:0080126
mitochondrial DNA depletion syndrome 3

DOID:0080121
mitochondrial DNA depletion syndrome 11

DOID:0080129
mitochondrial DNA depletion syndrome 4a

DOID:0080122
mitochondrial DNA depletion syndrome 5

DOID:0080124
mitochondrial DNA depletion syndrome 6

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mitochondrial complex III deficiency nuclear type 9

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coenzyme Q10 deficiency disease

DOID:0050730
mitochondrial DNA depletion syndrome 4b

DOID:0080123
Hyperoxaluria

HP:0003159
orotic aciduria

DOID:0050833
Abnormality of cysteine metabolism

HP:0010918
mitochondrial metabolism disease

DOID:700
mitochondrial complex II deficiency

DOID:0060537
Pseudohypoparathyroidism

HP:0000852
Aspartylglucosaminuria

HP:0012068
Homocystinuria

HP:0002156
Hypergalactosemia

HP:0012024
mitochondrial complex I deficiency

DOID:0060536
non-renal secondary hyperparathyroidism

DOID:13575
Cystinuria

HP:0003131
uterine corpus myxoid leiomyoma

DOID:13956
Cystathioninuria

HP:0003153
obsolete oxidoreductase activity

GO:0016674
Progressive psychomotor deterioration

HP:0007272
regulation of protein autoubiquitination

GO:1902498
pyrimidine metabolic disorder

DOID:0050832
negative regulation of vascular endothelial growth factor production

GO:1904046
vitamin metabolic disorder

DOID:0050718
Impaired visuospatial constructive cognition

HP:0010794
regulation of fat cell apoptotic process

GO:1904649
Abnormality of glutamine metabolism

HP:0010903
Ferguson-Smith tumor

DOID:5585
amyotrophic lateral sclerosis type 20

DOID:0060211
mitochondrial complex V (ATP synthase) deficiency

DOID:0050768
Low cholesterol esterification rates

HP:0003349
positive regulation of interleukin-20 production

GO:0032744
Bartholin'\''s gland adenoma

DOID:5382
macrocystic neurilemmoma

DOID:3203
Abnormal metaphyseal vascular invasion

HP:0003562
Generalized aminoaciduria

HP:0002909
Ornithinuria

HP:0003532
Toe extensor amyotrophy

HP:0011916
negative regulation of cap-independent translational initiation

GO:1903678
Renal calcium wasting

HP:0012637
Abnormality of lysine metabolism

HP:0010908
amyotrophic lateral sclerosis type 10

DOID:0060201
no_name

DOID:1329
Intermittent lactic acidemia

HP:0004913
obsolete extracellular sequestering of copper ion

GO:1902719
integral component of mitochondrial membrane

GO:0032592
sebaceous basal cell carcinoma

DOID:4286
amyotrophic lateral sclerosis type 11

DOID:0060202
mediastinum leiomyoma

DOID:5123
no_name

GO:0018368
cytochrome-c oxidase deficiency disease

DOID:3762
uterine corpus epithelioid leiomyoma

DOID:13951
regulation of cap-independent translational initiation

GO:1903677
prolapse of female genital organ

DOID:1284
cerebral folate receptor alpha deficiency

DOID:0050719
amyotrophic lateral sclerosis type 13

DOID:0060204
Impaired platelet adhesion

HP:0008352
Glutaric aciduria

HP:0003150
regulation of interferon-gamma biosynthetic process

GO:0045072
regulation of histone H2B ubiquitination

GO:2001166
obsolete Fishnet retinal pigmentation

HP:0007801
Progressive language deterioration

HP:0007064
regulation of apoptosis involved in tissue homeostasis

GO:0060785
Mild expressive language delay

HP:0011346
Progressive spasticity

HP:0002191
Progressive spastic paraplegia

HP:0007020
pancreatic ACTH hormone producing tumor

DOID:7697
negative regulation of interleukin-10 biosynthetic process

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Increased serum pyruvate

HP:0003542
Abnormality of the epiphysis of the 5th metacarpal

HP:0010226
labia minora carcinoma

DOID:1293
FTDALS1

DOID:0060213
positive regulation of sensory perception of sweet taste

GO:1904658
positive regulation of chemokine (C-C motif) ligand 20 production

GO:1903886
rectum adenoma

DOID:0050915
amyotrophic lateral sclerosis type 3

DOID:0060195

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