1. Gene
  2. MT-CO1 - mitochondrially encoded cytochrome c oxidase I Gene

MT-CO1 - mitochondrially encoded cytochrome c oxidase I Gene

Homo sapiens

Also known as COI; MTCO1; COX1

Gene ID: 4512 | Gene type: protein coding

About MT-CO1

Summary

Contributes to cytochrome-c oxidase activity. Predicted to be involved in electron transport coupled proton transport and mitochondrial electron transport, cytochrome c to oxygen. Part of mitochondrial respiratory chain complex III and mitochondrial respiratory chain complex IV. [provided by Alliance of Genome Resources, Apr 2022]

MT-CO1 Products(1)

mRNA Protein Name
YP_003024028.1 cytochrome c oxidase subunit I (mitochondrion) [Homo sapiens]
Gene Ontology
  • Molecular Function
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
contributes to cytochrome-c oxidase activity IMP
IMP: Inferred from mutant phenotype
12140182 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
12762840 GOA
Cellular Component GO Annotation Evidence Reference Source
located in mitochondrial membrane IDA
IDA: Inferred from direct assay
30030519 GOA
part of respiratory chain complex IV IDA
IDA: Inferred from direct assay
1651240 GOA
part of respiratory chain complex IV IMP
IMP: Inferred from mutant phenotype
19393246 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MT-CO1 Protein Structure

COX1

COX1: Cytochrome C and Quinol oxidase polypeptide I (12 - 460)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 513 a.a.
Protein Preferred Names Protein Names

cytochrome c oxidase subunit I

Related Diseases

Diseases Alias
Deafness, Nonsyndromic Sensorineural, Mitochondrial

Mitochondrial Non-Syndromic Sensorineural Hearing Loss

Mitochondrial Nonsyndromic Sensorineural Deafness

Mitochondrial Non-Syndromic Sensorineural Deafness

Isolated Mitochondrial Neurosensory Deafness

Isolated Mitochondrial Neurosensory Hearing Loss

Isolated Mitochondrial Sensorineural Deafness

Isolated Mitochondrial Sensorineural Hearing Loss

Mitochondrial Non-Syndromic Neurosensory Deafness

Mitochondrial Non-Syndromic Neurosensory Hearing Loss

Deafness, Sensorineural, Mitochondrial

DFNM

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anemia 2

Refractory Anemia With Ringed Sideroblasts

Acquired Idiopathic Sideroblastic Anemia

Aisa

Primary Acquired Sideroblastic Anemia

Autosomal Recessive Pyridoxine-Refractory Sideroblastic Anaemia 2

Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anaemia

Pyridoxine-Refractory Autosomal Recessive Sideroblastic Anemia

Sideroblastic Anemia Pyridoxine-Refractory Autosomal Recessive

Pyridoxine Refractory Sideroblastic Anemia

Myoglobinuria, Recurrent

Myoglobinuria Recurrent

Recurrent Myoglobinuria Mitochondrial

RM-MT

Mitochondrial Complex Iv Deficiency, Nuclear Type 1

Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency

Cox Deficiency

Cytochrome-C Oxidase Deficiency Disease

MC1DN4

Cytochrome-C Oxidase Deficiency

MC4DN1

Mitochondrial Complex I Deficiency, Nuclear Type 4

Complex 4 Mitochondrial Respiratory Chain Deficiency

Complex Iv Deficiency

Mitochondrial Complex 1 Deficiency, Nuclear Type 4

Nuclear Type Mitochondrial Complex I Deficiency 4

Deficiency Of Mitochondrial Respiratory Chain Complex4

MT-C4D

Complex Iv Mitochondrial Respiratory Chain Deficiency

Lethal Neonatal Cardiomyopathy Hypertrophic Due To Cytochrome C Oxidase Deficiency

Mitochondrial Complex Iv Deficiency, Nuclear, Type 1

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome

MELAS

Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode

Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes

Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke

Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes

Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Genetic Recurrent Myoglobinuria
Keratoderma, Palmoplantar, With Deafness

Palmoplantar Keratoderma-Deafness Syndrome

Palmoplantar Keratoderma With Deafness

Palmoplantar Hyperkeratosis-Deafness Syndrome

Palmoplantar Hyperkeratosis-Hearing Loss Syndrome

Palmoplantar Keratoderma-Hearing Loss Syndrome

Ppk-Deafness Syndrome

Keratoderma Palmoplantar Deafness

Diffuse Palmoplantar Keratoderma With Deafness

Focal Palmoplantar Keratoderma With Sensorineural Deafness

Hereditary Palmoplantar Keratoderma With Deafness

Keratoderma Palmoplantar, With Deafness

Palmoplantar Keratoderma And Sensorineural Deafness

Ppk With Deafness

PPKDFN

Keratoderma Palmoplantar, Deafness

Familial Colorectal Cancer

Colorectal Cancer, Familial

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Leber Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

Isolated Cytochrome C Oxidase Deficiency

Isolated Cox Deficiency

Isolated Mitochondrial Respiratory Chain Complex Iv Deficiency

Leber Plus Disease

Leber Congenital Amaurosis

Lca

Leber'S Amaurosis

Leber'S Disease

Amaurosis Congenita Of Leber

Amaurosis Congenita Of Leber, Type 1

Lhon Plus Disease

Congenital Absence Of The Rods And Cones

Congenital Retinal Blindness

Crb

Congenital Amaurosis Of Retinal Origin

Leber'S Congenital Amaurosis

Leber Congenital Amaurosis 1

Leber'S Congenital Tapetoretinal Degeneration

Leber'S Congenital Tapetoretinal Dysplasia

Lca1

Leber Congenital Amaurosis Type 1

Retinal Blindness, Congenital

Amaurosis, Leber Congenital

Dysgenesis Neuroepithelialis Retinae

Hereditary Epithelial Dysplasia Of Retina

Hereditary Retinal Aplasia

Heredoretinopathia Congenitalis

Leber Abiotrophy

Leber Congenital Tapetoretinal Degeneration

Lebers Congenital Amaurosis

Optic Atrophy, Hereditary, Leber

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Echinococcosis

Hydatidosis

Echinococcal Disease

Echinococcosis Of Liver

Hepatic Echinococcosis

Hydatid Disease

Liver Echinococcus

Pulmonary Echinococcosis

Hydatids

Echinococcosis, Hepatic

Echinococcosis, Pulmonary

Unilocular Echinococcosis

Echinococcus Disease

Echinococcus Granulosus Infection

Echinococcus Multilocularis Infection

Dog Tapeworm Infection

Echinococcus Granulosus Infestation

Echinococciasis

Cystic Echinococcosis

Leigh Syndrome

Leigh Disease

Infantile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency

LS

Sne

Leigh'S Disease

Leigh Syndrome Due To Mitochondrial Complex I Deficiency

Necrotizing Encephalopathy, Infantile Subacute, Of Leigh

Subacute Necrotizing Encephalomyelopathy

Necrotizing Encephalopathy Infantile Subacute Of Leigh

Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency

Infantile Necrotizing Encephalomyelopathy

Juvenile Subacute Necrotizing Encephalomyelopathy

Leigh'S Necrotizing Encephalopathy

Subacute Necrotizing Encephalopathy

Juvenile Subacute Necrotizing Encephalopathy

Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency

Leigh Syndrome Due To Mitochondrial Complex V Deficiency

Encephalopathy, Subacute Necrotizing, Infantile

Encephalopathy, Subacute Necrotizing, Juvenile

Maternally Inherited Leigh Syndrome

Subacute Necrotising Encephalomyelopathy

Subacute Necrotising Encephalopathy

Mitochondrial Myopathy, Infantile, Transient

Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency

MMIT

Mitochondrial Myopathy, Infantile, Transient, Due To Respiratory Chain Deficiency

Cox Deficiency Myopathy, Infantile, Transient

Respiratory Chain Deficiency, Infantile, Transient

Benign Cox Deficiency

Infantile Reversible Cytochrome C Oxidase Deficiency Myopathy

Mitochondrial Myopathy With Reversible Cox Deficiency

Mitochondrial Myopathy With Reversible Complex Iv Deficiency

Reversible Infantile Cytochrome C Oxidase Deficiency

Reversible Infantile Respiratory Chain Deficiency

Myoglobinuria
Sparganosis

Infection By Sparganum

Larval Diphyllobothriasis

Spirometrosis

Infection By Spirometra Larvae

Larval Dibothriocephaliasis

Sparganosis - Larval Diphyllobothriasis

Spirometriosis

Larval Dibothriocephalus Infestation

Larval Diphyllobothrium Infestation

Larval Dibothriocephalus

Infection Due To Sparganum

Larval Fish Tapeworm Infection

Spirometra Larvae Infestation

Sparganum Infestation

Larval Bothriocephalus Infestation

Myiasis

Infestation By Fly Larvae

Infestation By Maggots

Maggot Infestation

Infestation By Larvae Of Flies

Infestation By Dermatobia

Infestation By Estrus Ovis

Infestation By Oestrus Ovis

Oestriasis

Oestrosis

Parasitic Ectoparasitic Infectious Disease

Ectoparasitic Infestations

Ectoparasitism

Taeniasis

Beef Tapeworm Infection

Infection By Taeniarhynchus Saginatus

Taenia Saginata Infectious Disease

Taenia Saginata Infection

Pork Tapeworm Infection

Armed Tapeworm Infection

Infection By Taenia Solium

Intestinal Taenia Solium Infection

Pork Tapeworm

Taenia Solium Taeniasis

Adult Pork Tapeworm Infection

Adult Pork Tapeworm

Beef Tapeworm

Infection By Taenia Saginata

Unarmed Tapeworm Infection

Taenia Saginata Taeniasis

Infection Due To Adult Tapeworm Taenia Saginata

Mediocanellata Taenia Infection

Infestation By Taenia Saginata

Infestation By Taenia Mediocanellata

Diphyllobothriasis

Diphyllobothrium Infection

Fish Tapeworm

Bothriocephalosis

Infection By Bothriocephalus

Fish Tapeworm Infection

Dibothriocephalus Anaemia

Dibothriocephaliasis

Broad Tapeworm Infection

Bothriocephaliasis

Dibothriocephalus

Intestinal Diphyllobothriasis

Diphyllobothrium Infestation

Dibothriocephalus Infestation

Bothriocephalus Infestation

Adult Diphyllobothrium Infection

Tapeworm Anaemia

Infection By Diphyllobothrium Larvae

Neonatal Candidiasis

Neonatal Candida Infection

Neonatal Monilia Infection

Neonatal Moniliasis

Metagonimiasis

Trematode Infections

Infection By Metagonimus Yokogawai

Metagonimus Yokogawai Infection

Setariasis

Infectious Disease By Setaria

Gnathomiasis

Gnathostomiasis

Infectious Disease By Gnathostoma

Gnathostomosis

Wandering Swelling

Sarcocystosis

Sarcosporidiosis

Sarcosporidiasis

Angiostrongyliasis

A. Cantonensis Angiostrongyliasis

Acanthocephaliasis
Tick Infestation

Tick Infestations

Dioctophymiasis
Thelaziasis

Infection By Thelazia

Sideroblastic Anemia

Anemia Sideroblastic

Anemia, Sideroblastic

Anemia, Hypochromic With Iron Loading

Mesocestoidiasis

Infection By Mesocestoides

Ophthalmomyiasis

Ocular Myiasis

Ophthalmic Myiasis

Myiasis Oestruosa

Coenurosis

Coenuriasis

Tick Paralysis
Eosinophilic Meningitis

Eosinophilic Meningoencephalitis Due To Angiostrongylus Cantonensis

Cercarial Dermatitis

Swimmer'S Itch

Cutaneous Schistosomiasis

Sea Bather'S Eruption

Clam-Digger'S Itch

Rice-Paddy Itch

Sea Bather'S Itch

Sawah Itch

Schistosomal Cercarial Dermatitis

Dirofilariasis

Dirofilaria Infectious Disease

Infection By Dirofilaria

Hymenolepiasis

Dwarf Tapeworm Infection

Hymenolepis Infectious Disease

Hymenolepsis Infection

Hyemolepis Nana Infection

Hymenolepiosis

Hymenolepis Infection

Dwarf Tapeworm

Hymenolepidosis

Hymenolepis Infestation

Leech Infestation

Hirudiniasis

Leeches

Oesophagostomiasis

Infection By Oesophagostomum

Oesophagostomosis

Cystic Echinococcosis

Echinococcus Granulosus Infection

Echinococcus Granulosus Infection Of Lung

Echinococcus Granulosus

Echinococcus Granulosus Infection Of Thyroid

Echinococcus Granulosus Infectious Disease

Echinococcus Granulosus Infectious Disease Of Liver

Echinococcus Granulosus Infectious Disease Of Thyroid

Liver Echinococcus Granulosus

Lung Echinococcus Granulosus

Thyroid Echinococcus Granulosus

Unilocular Echinococcosis

Unilocular Hydatid Disease

Hydatid Disease

Hydatidosis

Echinococcosis

Ancylostomiasis

Ankylostomiasis

Hookworm Infection

Hookworm Infections

Ancylostomiasis Due To Ancylostoma Duodenale

Ancylostoma Duodenale Infection

Epidemic Typhus

Typhus

Typhus Fever

Epidemic Louse-Borne Typhus Fever Due To Rickettsia Prowazekii

Murine Typhus

Classical Typhus

Endemic Flea-Borne Typhus

Endemic Typhus Fever

Epidemic Louse-Borne Typhus

Famine Fever

Flea-Borne Typhus

Jail Fever

Louse-Borne Typhus

Mexican Typhus

Shop Typhus

Urban Typhus

Brill-Zinsser Disease

Endemic Typhus

Sylvatic Typhus

Epidemic Typhus

European Typhus

Exanthematic Typhus Fever

Exanthematous Typhus

Flea Typhus

Flea-Borne Rickettsiosis

Hospital Fever

Louse-Borne [Epidemic] Typhus

Louse-Borne Rickettsiosis

Moscow Typhus

Murine [Endemic] Typhus

Petechial Fever

Prison Fever

Rat Flea Typhus

Ship Fever

Typhus Exanthematique

Typhus, Endemic Flea-Borne

Typhus, Epidemic Louse-Borne

Typhus Group Rickettsial Disease

Relapsing Fever

Typhus Fever Nos

Typhus Nos

Epidemic Typhus Fever

Louse-Borne Typhus Fever

Classical Typhus Fever

Louse-Borne Tabardillo

Epidemic Typhus Fever Due To Rickettsia Prowazekii

Endemic Murine Typhus

Flea-Borne Typhus Fever

Murine Endemic Flea Typhus

Rat Typhus

Typhus Due To Rickettsia Typhi

Flea-Borne Tabardillo

Rickettsia Typhi Rickettsiosis

Mexican Fever

Murine Flea-Borne Typhus

Mooser Bodies

Tsutsugamushi Fever

Kedani Fever

Mite-Borne Typhus

Mite-Borne Typhus Due To Rickettsia Tsutsugamushi

Scrub Typhus

Tsutsugamushi

Tsutsugamushi Disease

Scrub Mite-Borne Typhus

Sumatran Mite Fever

Japanese River Fever

Kedani Typhus

Rickettsia Tsutsugamushi Rickettsiosis

Sumatran Mite Typhus

Tropical Typhus

Japanese Typhus

Dipetalonemiasis

Acanthocheilonemiasis

Dipetalonema Infections

Acanthocheilonema Perstans Infection

Dipetalonema Infectious Disease

Infection By Dipetalonema

Infection By Dipetalonema Perstans

Mansonella Perstans

Enterobiasis

Oxyuriasis

Pinworm Infection

Enterobius Vermicularis Infection

Threadworm Infection

Oxyuris Vermicularis Infection

Enterobiosis

Pinworm

Pinworm Disease

Seatworm Infection

Enterobiasis Threadworm

Pinworm Infestation

Seatworm

Dientamoebiasis

Intestinal Trichomoniasis

Adenosquamous Bile Duct Carcinoma

Bile Duct Adenosquamous Carcinoma

Alveolar Echinococcosis

Echinococcus Multilocularis Infection

Echinococcosis

Alveolococcosis

Multilocular Hydatid

Small Fox Tapeworm

Nemaline Myopathy 3

Nemaline Myopathy 3, Autosomal Dominant Or Recessive

Congenital Myopathy With Excess Of Thin Filaments

NEM3

Myopathy, Actin, Congenital, With Cores

Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments

Actin-Accumulation Myopathy

Actin Myopathy

Actin Accumulation Myopathy

Actin Filament Aggregate Myopathy

Nemaline Myopathy, Type 3

MPCETM

Acta1-Related Nemaline Myopathy

Actin Myopathy Congenital With Cores

Nemaline Myopathy 3 With Intranuclear Rods

Myopathy, Nemaline, Type 3

Lice Infestation

Pediculosis

Louse Infestation

Mixed Pediculosis

Lice Infestations

Infestation By Pediculus

Mixed Pediculosis Infestation

Pediculosis + Lice

Pediculosis And Phthirus Infection

Pediculosis And Phthirus Infections

Pediculosis And Phthirus Infestation

Infestation By Anoplura

Pediculus Infestation

Lice Nos

Echinostomiasis

Infection By Echinochasmus

Parasitic Helminthiasis Infectious Disease

Helminthiasis

Intestinal Helminthiasis

Helminth Infection

Helminthosis

Worm Infection

Worm Infections

Helminth Infections

Intestinal Infection Due To Class Cestoda And/Or Class Trematoda And/Or Phylum Nemata

Parasitic Enteritis

Metazoal Dysentery

Intestinal Worms Nos

Chronic Meningitis
Polycystic Echinococcosis

Human Polycystic Hydatid Disease

Neotropical Echinococcosis

Mite Infestation

Mite Infestations

Acariasis

Infestation By Mites Nos

Babesiosis

Babesiasis

Infection By Babesia

Piroplasmosis

Human Babesiosis

Babesia Parasite Infection

Piroplasma Infection

Paragonimiasis

Infection By Paragonimus

Lung Fluke Disease

Lung Fluke Infection

Pulmonary Paragonimiasis

Paragonimus Westermani Infection

Pulmonary Distomiasis

Parasitic Haemoptysis

Oriental Lung Fluke Disease

Endemic Haemoptysis

Paragonimosis

Pulmonary Distomatosis

Lung Fluke Disorder

Infestation By Paragonimus

Infection Due To Paragonimus Species

Infestation Due To Paragonimus Species

Oriental Lung Fluke Infestation

Endemic Oriental Haemoptysis

Cystoisosporiasis

Isosporiasis

Infection By Isospora Belli And Isospora Hominis

Isosporosis

Infection By Isospora Belli Or Isospora Hominis

Isospora Belli Or Hominis Infection

Coccidial Infestation

Coccidiosis

Coccidial Dysentery

Intestinal Coccidiosis Nos

Pediculus Humanus Capitis Infestation

Pediculosis Capitis

Pediculus Capitis Infestation

Head Louse Infestation

Pediculus Capitis

Head-Louse Infestation

Head Lice

Infestation By Pediculus Capitis

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Clivus Meningioma

Meningioma Of The Clivus

Dracunculiasis

Guinea Worm Disease

Dracontiasis

Dracunculosis

Infection By Dracunculus Medinensis

Gwd

Guinea Worm Infection

Parasitic Infection Caused By Dracunculus Medinensis

Medina Worm Disease

Medinensis

Medina Worm Infestation

Dracunculus Medinensis Infestation

Guinea Worm Infestation

Pediculus Humanus Corporis Infestation

Body Louse Infestation

Pediculus Corporis

Pediculus Humanus Infestation

Capillariasis

Capillaria Infection

Enoplida Infections

Capillariasis Nos

Capillariosis

Mitochondrial Myopathy

Mitochondrial Myopathies

Mitochondrial Cytopathy

Myopathies In Mitochondrial Disorders

Baylisascariasis

Infection By Baylisascaris

Cysticercosis

Neurocysticercosis

Submacular Cysticercosis

Intestinal Taenia Solium Infection

Pork Tapeworm Infection

Tapeworm Infection: Intestinal Taenia Solum

Tapeworm Infection: Pork

Tenia Solium Infectious Disease

Taeniasis

Tenia Solium Infection

Cysticerciasis Infection Due To Larval Form Of Taenia Solium

Kearns-Sayre Syndrome

Ophthalmoplegia

Mitochondrial Cytopathy

KSS

Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy

Oculocraniosomatic Syndrome

Chronic Progressive External Ophthalmoplegia With Myopathy

Cpeo With Myopathy

Total Ophthalmoplegia

Ophthalmoplegia-Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged-Red Fibers

Cpeo With Ragged-Red Fibers

Oculomotor Paralysis

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O

Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna

Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia

Cpeo With Ragged Red Fibers

Ophthalmoplegia Plus Syndrome

Ophthalmoplegia, Progressive External, With Ragged Red Fibers

Kearns-Sayre Mitochondrial Cytopathy

Mitochondrial Myopathies

Bartonellosis

Bartonella Infections

Bartonella Infectious Disease

Bartonelliasis

Rochalimaea Infection

Bartonellosis, Unspecified

Filarial Elephantiasis

Lymphatic Filariasis

Elephantiasis

Filariasis

Bancroftian Elephantiasis

Bancroftian Filarial Chyluria

Elephantiasis Of Eyelid

Bancroftian Filariasis

Elephantitis

Malayi Tropical Eosinphilia

Wuchereria Bancrofti Infection

Wuchereriasis

Elephantiasis, Filarial

Filarial Elephantiases

Infection By Wuchereria Bancrofti

Filarial Lymphangitis

Tropical Elephantiasis

Filarial Chylocele

Theileriasis

Theileriosis

Infection By Theileria

Phlebotomus Fever

Pappataci Fever

Sandfly Fever

Sandfly-Borne Phleboviral Disease

Sandfly-Borne Arboviral Fever

Sandfly-Borne Bunyavirus Fever

Three Day Fever

Chitral Fever

Italy Summer Grippe

Italy Summer Grippe Influenza

Strongyloidiasis

Disseminated Strongyloidiasis

Anguilluliasis

Anguillulosis

Infection By Strongyloides

Threadworm Infection

Enterobiasis

Fascioliasis

Fasciola Hepatica Infection

Infection By Fasciola

Sheep Liver Fluke Infection

Liver Flukes

Fasciola Infestation

Sheep Liver Fluke Disease

Liver Fluke Infestation

Liver Flukes Nos

Liver Fluke Infection

Liver Fluke Disease

Epilepsy, Familial Temporal Lobe, 2

Familial Temporal Lobe Epilepsy 2

Temporal Epilepsy, Familial

ETL2

Ftle

Epilepsy, Familial Temporal Lobe

Familial Temporal Lobe Epilepsy

Slate Pneumoconiosis

Schistosis

Hypertrophic Cardiomyopathy

Hypertrophic Obstructive Cardiomyopathy

Cardiomyopathy, Hypertrophic

Cardiomyopathy Hypertrophic Obstructive

Cardiomyopathy, Hypertrophic, Familial

Idiopathic Myocardial Hypertrophy

Idiopathic Hypertrophic Cardiomyopathy

Obstructive Idiopathic Hypertrophic Cardiomyopathy

Obstructive Cardiomyopathy

Idiopathic Hypertrophic Subaortic Stenosis

Muscular Subaortic Stenosis

Hypertrophic Obstructive Subaortic Stenosis

Trench Fever

His-Werner Disease

Quintan Fever

Shin Bone Fever

Wolhynian Fever

Tibialgic Fever

Bartonellosis Due To Bartonella Quintana Infection

Febris Quintata

Five Day Fever

Fever Due To Rickettsia Quintana

Febris Quintana

Fever Due To Bartonella Quintana

Fever Due To Rochalimaea Quintana

Meuse Fever

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Endemic Typhus

Murine Typhus

Cat Flea Rickettsiosis

Fleaborne Typhus

Rat-Flea Typhus

Rickettsia Felis Spotted Fever

Shop Typhus

Toulon Typhus

Urban Typhus

Urban Typhus Of Malaya

Flea-Borne Typhus

Endemic Flea-Borne Typhus

Holoprosencephaly 1

Arhinencephaly

HPE1

Cyclopia

Holoprosencephaly, Familial Alobar

Hpe, Familial

Hpec

Demyer Sequence

Holoprosencephaly-1

Norwegian Scabies

Crusted Scabies

Seven Year Itch

Squamous Cell Bile Duct Carcinoma

Bile Duct Squamous Cell Carcinoma

Osteogenesis Imperfecta, Type Xiii

Osteogenesis Imperfecta Type 13

OI13

Osteogenesis Imperfecta Type Xiii

Oi, Type Xiii

Osteogenesis Imperfecta 13

Oi Type Xiii

Oi-Xiii

Filariasis

Disease Due To Superfamily Filarioidea

Bancroftian Filarial Fever

Mumu

Wanganga

Bancroftian Filariasis

Wuchereriosis

Brugiosis

Malayan Filariasis

Eastern Equine Encephalitis

Eee

Neuroinvasive Eastern Equine Encephalitis Virus Infection

Eastern Equine Encephalomyelitis

Encephalomyelitis, Eastern Equine

Triple E

Eastern Equine Encephalitis Virus Infection

Neuroinvasive Eastern Equine Encephalitis Virus Disease

Eee - [Eastern Equine Encephalitis]

Intestinal Schistosomiasis

Schistosomiasis Japonica

Schistosomiasis Mansoni

Katayama Fever

Schistosoma Japonicum Infection

Schistosoma Mansoni Infectious Disease

Schistosomiasis

Deafness, Aminoglycoside-Induced

Streptomycin Ototoxicity

Deafness, Mitochondrial, Modifier Of

Aminoglycoside-Induced Deafness

Deafness, Streptomycin-Induced

Streptomycin-Induced Deafness

DFNI

Parasitic Protozoa Infectious Disease

Protozoan Infections

Mastigophora Infectious Disease

Sarcomastigophora Infectious Disease

Autoimmune Lymphoproliferative Syndrome

ALPS

Canale-Smith Syndrome

Autoimmune Lymphoproliferative Syndrome, Type Ia

Autoimmune Lymphoproliferative Syndrome, Type Ib

Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant

Css

Autoimmune Lymphoproliferative Syndrome, Type 1b

Autoimmune Lymphoproliferative Syndrome, Type 1a

Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant

Fas Deficiency

Autoimmune Lymphoproliferative Syndrome 1a

ALPS1A

Autoimmune Lymphoproliferative Syndrome Type Ia

Autoimmune Lymphoproliferative Syndrome 1b

ALPS1B

Autoimmune Lymphoproliferative Syndrome Type Ib

Clonorchiasis

Oriental Liver Fluke Disease

Clonorchis Liver Infection

Clonorchiosis

Chinese Liver Fluke Disease

Hepatic Distomiasis Due To Clonorchis Sinensis

Infection Due To Clonorchis Sinensis

Hepatic Distomiasis

Hepatic Distomatosis

Chinese Liver Fluke Disorder

Oriental Liver Fluke Disorder

Clonorchis Infestation

Chinese Liver Fluke Infestation

Liver Fluke Disease Due To Clonorchis Sinensis

Oriental Liver Fluke Infestation

Spotted Fever

Spotted Fevers

Spotted Fever Group Rickettsial Disease

Tick-Borne Rickettsioses

Tick-Borne Typhus Nos

Rocky Mountain Spotted Fever

Sao Paulo Fever

Sao Paulo Typhus

Lone Star Spotted Fever

Colombian Spotted Fever

American Spotted Fever

Tick Typhus Due To Rickettsia Rickettsii

Rocky Mountain Tick Fever

Boutonneuse Fever

Mediterranean Tick Fever

Fièvre Boutonneuse

Mediterranean Spotted Fever

Tick Typhus Due To Rickettsia Conorii

African Tick Typhus

Indian Tick Typhus

Kenya Tick Typhus

North Asian Tick Fever

Siberian Tick Typhus

Tick Typhus Due To Rickettsia Siberica

North Asian Spotted Fever

Queensland Tick Typhus

Queensland Fever

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia

Cpeo

Peo

Ophthalmoplegia, Chronic Progressive External

Ophthalmoplegia, External, Progressive, Chronic

Graefe Disease

Peo - [Progressive External Ophthalmoplegia]

Ophthalmoplegia Plus Syndrome

Sensorineural Hearing Loss

Sensory Hearing Loss

Sensorineural Deafness

Sensorineural Hearing Loss Disorder

Hearing Loss, Sensorineural

Central Hearing Loss

High Frequency Deafness

High Frequency Hearing Loss

High-Frequency Hearing Loss

Perceptive Deafness

Perceptive Hearing Loss

Perceptive Hearing Loss Or Deafness

Hearing Loss Sensorineural

Deafness Sensorineural

Hearing Loss High-Frequency

Hearing Loss, Central

Hearing Loss, High-Frequency

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea

Parathyroid Oncocytic Adenoma

Parathyroid Gland Oncocytic Adenoma

Hypersensitivity Reaction Type Iv Disease

Immunoproliferative Disorders

Immunoproliferative Disease

Articulation Disorder

Phonological Disorder

Articulation Disorders

Articulation Impairment

Speech Sound Disorders

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3

MLASA3

Chronic Congestive Splenomegaly
Combined Oxidative Phosphorylation Deficiency 37

COXPD37

3-Methylglutaconic Aciduria, Type Iii

Optic Atrophy

3-Methylglutaconic Aciduria Type 3

Costeff Syndrome

Mga3

Costeff Optic Atrophy Syndrome

Optic Atrophy Plus Syndrome

Infantile Optic Atrophy With Chorea And Spastic Paraplegia

3-Methylglutaconic Aciduria Type Iii

Autosomal Recessive Optic Atrophy Plus Syndrome

Autosomal Recessive Optic Atrophy Type 3

Opa3 Defect

MGCA3

Mga, Type Iii

Iraqi Jewish Optic Atrophy Plus

Mga Type Iii

Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia

Iraqi-Jewish 'Optic Atrophy Plus'

Optic Atrophy 3, Autosomal Recessive

Opa3, Autosomal Recessive

Opa3-Related 3-Methylglutaconic Aciduria

Iraqi-Jewish Optic Atrophy Plus

Atrophy Of Optic Disc

3-Alpha Methylglutaconic Aciduria Type Iii

Optic Atrophy 3

Optic Atrophy Infantile With Chorea And Spastic Paraplegia

Autosomal Recessive Opa3

Autosomal Recessive Optic Atrophy 3

3-Methylglutaconic Aciduria 3

3-Alpha-Methylglutaconic Aciduria Type 3

Optic Atrophy 3 Autosomal Recessive

Atrophy, Optic

Atrophy, Optic, Plus Syndrome

Optic Nerve Atrophy

Primary Optic Atrophy

Oa - [Optic Atrophy]

Second Cranial Nerve Atrophy

Second Cranium Nerve Atrophy

Osebold-Remondini Syndrome

Brachydactyly Type A6

Brachymesophalangy With Mesomelic Short Limbs And Carpal And Tarsal Osseous Abnormalities

Bda6

Brachydactyly, Type A6

Myopathy

Muscular Diseases

Myopathies

Stuttering

Stammering

Familial Persistent Stuttering

Stuttering, Familial Persistent 1

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Trombiculiasis
Malaria

Malaria, Susceptibility To

Malaria, Resistance To

Malaria, Cerebral

Cerebral Malaria

Malaria, Severe, Susceptibility To

Malaria, Severe, Resistance To

Malaria, Cerebral, Susceptibility To

Induced Malaria

Malaria, Vivax, Protection Against

Malaria, Severe

Malaria, Cerebral, Reduced Risk Of

Malaria, Protection Against

Resistance To Malaria Due To G6pd Deficiency

Malaria Due To G6pd Deficiency

Malarial Encephalitis

CM

Malaria Cerebral

Susceptibility To Malaria

Acute Pernicious Fever

Aestivo-Autumnal Fever

Aestivo Autumnal Malaria

Chagres Fever

Continued Malaria Fever

Estivo-Autumnal Fever

Estivo-Autumnal Malaria

Estivo-Autumnal Malarial Fever

Falciparum Fever

Malignant Tertian Fever

Malignant Tertian Malaria

Pernicious Intermittent Fever

Pernicious Malaria

Quotidian Malaria

Subtertian Fever

Subtertian Malaria Fever

Subtertian Malignant Tertian Malaria

Tropical Malaria

Algid Malaria

Bilious Haemoglobinuric Fever

Black Water Fever

Blackwater Fever

Malarial Blackwater Fever

Severe Malarial Falciparum

West African Fever

Malarial Haematinuria

Haemoglobinuric Fever

Haemoglobinuric Malaria

Severe Plasmodium Falciparum Malaria

Malarial Haemoglobinuria

Malarial Haematuria

Falciparum Malaria [Malignant Tertian]

Malaria Tropica

Malarial Shock

Chagres Virus Disease

Malignant Malaria

Mtm - [Malignant Tertian Malaria]

Tm -[Malignant Tertian Malaria]

Panama Fever

St - [Subtertian Malaria]

Malarial Quotidian

Benign Tertian Malaria

Tertian Ague

Vivax Fever

Plasmodium Vivax Malaria Nos

Btm - [Benign Tertian Malaria]

Bt - [Benign Tertian Malaria]

Vivax Malaria

Benign Tertian Vivax Malaria

Tertian Malaria

Quartan Malaria

Quartan Ague

Quartan Fever

Plasmodium Malariae Malaria Nos

Quartan Malarial

Malaria By Plasmodium Malariae

Malariae Malaria

Ovale Tertian Malaria

Plasmodium Ovale Fever

Malaria Fever By Plasmodium Ovale

Ovale Malaria

Malaria By Plasmodium Ovale

Malarial Ovale

Marsh Fever

Remittent Congestive Fever

Coastal Fever

Remittent Gastric Fever

Miasmatic Fever

Congestive Remittent Fever

Intermittent Fever

Jungle Fever

Paludism

Cameroon Fever

Ague

Corsican Fever

Intermittent Bilious Fever

Disease Due To Plasmodiidae

Malarial Fever

Plasmodiosis

Remittent Fever

Roman Fever

Malaria Fever Nos

Malaria Nos

Paludal Fever

Clinically Diagnosed Malaria

Clinically Diagnosed Malaria Without Parasitological Confirmation

Congestive Fever

Malarial Cachexia

Marsh Cachexia

Paludal Cachexia

Recurrent Malaria

Remittent Malaria

Osteogenesis Imperfecta, Type Xi

Osteogenesis Imperfecta Type 11

OI11

Osteogenesis Imperfecta Type Xi

Oi, Type Xi

Osteogenesis Imperfecta 11

Oi Type Xi

Oi-Xi

Psoriasis 11

PSORS11

Psoriasis Susceptibility 11

Psoriasis

Psoriasis Vulgaris

Psoriasis 11, Susceptibility To

Pv

Meningovascular Neurosyphilis
Optic Nerve Disease

Optic Neuropathy

Disorder Of The Second Nerve

Optic Nerve Disorder

Optic Nerve

Abnormality Of The Optic Nerve

Optic Nerve Disorders

Neuropathy, Optic

Disorder Of The Optic Nerve

Myoclonic Epilepsy Associated With Ragged-Red Fibers

Merrf Syndrome

MERRF

Fukuhara Syndrome

Myoclonic Epilepsy Associated With Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonic Epilepsy - Ragged Red Fibers

Myoclonus Epilepsy And Ragged Red Fibers

Myoclonus With Epilepsy And With Ragged Red Fibers

Myoclonic Epilepsy With Ragged Red Fibers

Myoclonic Epilepsy With Ragged-Red Fibers

Fukuhara Disease

Myoclonus Epilepsy Associated With Ragged-Red Fibres

Myoclonus With Epilepsy With Ragged Red Fibers

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Hypertension, Essential

Essential Hypertension

Hypertension

High Blood Pressure

Hypertension, Essential, Susceptibility To

Hypertensive Disease

Primary Hypertension

EHT

Hypertension, Salt-Sensitive Essential, Susceptibility To

Hyperpiesia

Idiopathic Hypertension

Hypertensive Disorder

Hypertension, Essential, Susceptibility To, 3

Hypertension, Essential 3

Hypertension, Essential, Salt-Sensitive

Hypertension, Essential, Susceptibility To, 6

Hypertension, Essential 6

Hypertension, Salt-Sensitive Essential

Hypertension, Susceptibility To

Hypertension, Essential, Susceptibility To, 4

Hypertension, Essential 4

Hypertension, Essential, Susceptibility To, 2

Hypertension, Essential 2

Hypertension, Essential, Susceptibility To, 1

Hypertension, Essential 1

Hypertension, Essential, Susceptibility To, 5

Hypertension, Essential 5

Htn

Vascular Hypertensive Disorder

Systemic Primary Arterial Hypertension

Hbp - [High Blood Pressure]

Systemic Arterial Hypertensive Disorder

Elevated Blood Pressure

Arterial Hypertension Nos

Hypertension Nos

Benign Hypertension

Systemic Arterial Hypertension

Systemic Hypertension

Artery Htn

Benign Htn

Vascular Htn

Vascular Hypertension

Cholesterol Hypertension

Cholesterol Htn

Idiopathic Htn

Malignant Hypertension

Malignant Htn

Raised Blood Pressure

Cardiovascular Hypertension

Primary Htn - [Hypertension]

High Arterial Tension

High Blood Pressure Disorder

Ht - [Hypertension]

Htn - [Hypertension]

Hypertensive Vascular Disease

Hypertensive Vascular Degeneration

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency

Nadh:Q(1) Oxidoreductase Deficiency

MC1DN1

Nadh-Coenzyme Q Reductase Deficiency

Isolated Mitochondrial Respiratory Chain Complex I Deficiency

Isolated Nadh-Coenzyme Q Reductase Deficiency

Isolated Nadh-Coq Reductase Deficiency

Isolated Nadh-Ubiquinone Reductase Deficiency

Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of

Nuclear Type Mitochondrial Complex I Deficiency 1

Isolated Complex I Deficiency

Complex 1 Mitochondrial Respiratory Chain Deficiency

Nadh Coenzyme Q Reductase Deficiency

Complex I Mitochondrial Respiratory Chain Deficiency

Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I

Nadh:Ubiquinone Oxidoreductase Deficiency

Complex I, Mitochondrial Respiratory Chain, Deficiency Of

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma