| 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
|
|
| 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
|
|
| 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
|
|
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
-
Maternally-Inherited Cpeo
-
Maternally-Inherited Chronic Progressive External Ophthalmoplegia
-
Mtdna-Related Progressive External Ophthalmoplegia
|
|
| 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
|
|
| 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
|
|
| 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
|
|
| Rare Genetic Deafness |
|
|
| Deafness, Aminoglycoside-Induced |
-
Streptomycin Ototoxicity
-
Deafness, Mitochondrial, Modifier Of
-
Aminoglycoside-Induced Deafness
-
Deafness, Streptomycin-Induced
-
Streptomycin-Induced Deafness
-
DFNI
|
|
| 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
|
|
| Drug-Induced Hearing Loss |
|
|
| Deafness, Autosomal Dominant 51 |
-
Chromosome 9q21.11 Duplication Syndrome
-
DFNA51
-
Autosomal Dominant Nonsyndromic Deafness 51
-
Autosomal Dominant Deafness 51
-
Deafness, Autosomal Dominant, Type 51
|
|
| Dicrocoeliasis |
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
-
Enlarged Vestibular Aqueduct
-
DFNB4
-
Neurosensory Nonsyndromic Recessive Deafness 4
-
Enlarged Vestibular Aqueduct Syndrome
-
Nsrd4
-
Autosomal Recessive Nonsyndromic Deafness 4
-
Dilated Vestibular Aqueduct
-
Dva
-
Enlarged Vestibular Aqueduct, Digenic
-
Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
-
Large Vestibular Aqueduct Syndrome
-
Deafness, Autosomal Recessive, 4
-
Deafness Neurosensory Autosomal Recessive 4
-
Eva
-
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
-
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
-
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
|
|
| Vohwinkel Syndrome |
-
Mutilating Keratoderma
-
Keratoderma Hereditarium Mutilans
-
Khm
-
VOWNKL
-
Deafness, Congenital, With Keratopachydermia And Constrictions Of Fingers And Toes
-
Mutilating Keratoderma Of Vohwinkel
-
Mutilating Keratoderma Plus Deafness
-
Ppk Mutilans And Deafness
-
Congenital Deafness With Keratopachydermia And Constrictions Of Fingers And Toes
-
Congenital Deafness With Keratopachydermia And Constrictions Fo Fingers And Toes
-
Palmoplantar Keratoderma Mutilans
-
Palmoplantar Keratoderma Mutilans Vohwinkel
-
Ppk Mutilans Vohwinkel
-
Mutilating Keratoderma Plus Hearing Loss
-
Ppk Mutilans And Hearing Loss
|
|
| Progressive Myoclonus Epilepsy 6 |
-
Progressive Myoclonic Epilepsy Type 6
-
Epm6
-
Gosr2-Related Progressive Myoclonus Ataxia
-
North Sea Progressive Myoclonus Epilepsy
-
Pme Type 6
-
Progressive Myoclonus Epilepsy Type 6
-
Epilepsy, Progressive Myoclonic, 6
|
|
| Deafness, Autosomal Dominant 50 |
-
DFNA50
-
Autosomal Dominant Nonsyndromic Deafness 50
-
Autosomal Dominant Deafness 50
-
Deafness, Autosomal Dominant, Type 50
|
|
| X-Linked Nonsyndromic Deafness |
-
X-Linked Deafness
-
Deafness, X-Linked
|
|
| Noonan Syndrome 1 |
-
Noonan Syndrome
-
NS1
-
Male Turner Syndrome
-
Female Pseudo-Turner Syndrome
-
Turner Phenotype With Normal Karyotype
-
Noonan Syndrome With Pigmented Villonodular Synovitis
-
Turner'S Phenotype, Karyotype Normal
-
Familial Turner Syndrome
-
Noonan'S Syndrome
-
Noonan-Ehmke Syndrome
-
Ns
-
Pseudo-Ullrich-Turner Syndrome
-
Turner Syndrome In Female With X Chromosome
-
Turner-Like Syndrome
-
Ullrich-Noonan Syndrome
-
Noonan-Like/Multiple Giant Cell Lesion Syndrome
-
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
-
Pterygium Colli Syndrome
-
Noonan Syndrome, Type 1
-
Turner Syndrome, Male
|
|
| Mitochondrial Encephalomyopathy |
|
|
| Pendred Syndrome |
-
Goiter-Deafness Syndrome
-
Deafness With Goiter
-
PDS
-
Thyroid Dyshormonogenesis 2b
-
Tdh2b
-
Autosomal Recessive Sensorineural Hearing Impairment And Goiter
-
Pendred'S Syndrome
-
Thyroid Hormonogenesis, Genetic Defect In, 2b
-
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
-
Congenital Hypothyroidism Due To Dyshormonogenesis 2b
-
Genetic Defect In Thyroid Hormonogenesis 2b
-
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
-
Goiter-Hearing Loss Syndrome
-
Goitre-Deafness Syndrome
-
Goitre Deafness
|
|
| Mitochondrial Myopathy |
|
|
| Early Myoclonic Encephalopathy |
-
Myoclonic Epilepsy
-
Myoclonic Seizure
-
Epilepsies, Myoclonic
-
Epileptic Seizures - Myoclonic
-
Epileptic Seizures, Myoclonic
-
Myoclonia Epileptica
-
Myoclonic Seizure Disorder
-
Early Myoclonic Encephalopathy With Suppression-Bursts
|
|
| 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
|
|
| Autosomal Dominant Nonsyndromic Deafness |
|
|