| Diseases |
Alias |
|
| Optic Atrophy 3, Autosomal Dominant |
|
Optic Atrophy 3
|
OPA3
|
|
Autosomal Dominant Optic Atrophy And Cataract
|
Optic Atrophy And Cataract, Autosomal Dominant
|
|
Autosomal Dominant Optic Atrophy Type 3
|
Optic Atrophy 3 With Cataract
|
|
Opa3, Autosomal Dominant
|
Adoac
|
|
Optic Atrophy, Cataract, And Neurologic Disorder
|
Autosomal Dominant Optic Atrophy 3
|
|
Optic Atrophy Type 3
|
Optic Atrophy 3 Autosomal Dominant
|
|
Atrophy, Optic, Type 3, Autosomal Dominant
|
3-Methylglutaconic Aciduria Type 3
|
|
|
| 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
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
|
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic Atrophy 7
|
OPA7
|
|
Autosomal Recessive Optic Atrophy, Opa7 Type
|
Optic Atrophy-7
|
|
Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
|
|
|
| Toxic Optic Neuropathy |
|
|
| Cataract |
|
Cataracts
|
Cat - [Cataract]
|
|
Cataract Form
|
Lens Opacity
|
|
Lens Opacities
|
|
|
| Behr Syndrome |
|
BEHRS
|
Abortive Cerebellar Ataxia
|
|
Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities
|
Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of
|
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss
|
Obsolete: Behr Syndrome
|
|
Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss
|
Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
|
|
|
| Optic Atrophy 4 |
|
|
| Optic Atrophy 6 |
|
OPA6
|
Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive
|
|
|
| Primary Optic Atrophy |
|
|
| Nutritional Optic Neuropathy |
|
|
| 3-Methylglutaconic Aciduria, Type I |
|
3-Methylglutaconyl-Coa Hydratase Deficiency
|
3-Methylglutaconic Aciduria Type 1
|
|
Mga1
|
MGCA1
|
|
3mg-Coa Hydratase Deficiency
|
Mga Type I
|
|
Mga, Type I
|
3-Mg-Coa-Hydratase Deficiency
|
|
3 Methylglutaconyl Coa Hydratase Deficiency
|
3-Methylglutaconic Aciduria Type I
|
|
3 Alpha Methylglutaconic Aciduria Type I
|
3 Methylglutaconic Aciduria Type 1
|
|
3-Mgca Type I
|
3mg Coa Hydratase Deficiency
|
|
Auh Defect
|
Primary 3-Methylglutaconic Aciduria
|
|
3-Methylglutaconic Aciduria 1
|
3-Alpha-Methylglutaconic Aciduria Type 1
|
|
3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency
|
3-@Methylglutaconic Aciduria, Type I
|
|
Megaloblastic Anemia Due To Inborn Errors Of Metabolism
|
|
|
| 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Megdel Syndrome
|
MEGDEL
|
|
Mgca6
|
3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel
|
3-Methylglutaconic Aciduria, Type Vi
|
|
Serac1 Defect
|
3-Methylglutaconic Aciduria Type 6
|
|
3-Mgca Type Iv
|
3-Mgca-4
|
|
3-Methylglutaconic Aciduria Type Vi
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome
|
|
Megdhel Syndrome
|
3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome
|
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome
|
|
3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
|
|
|
| Optic Atrophy 9 |
|
OPA9
|
Atrophy, Optic, Type 9
|
|
|
| Breast Liposarcoma |
|
Liposarcoma Of The Breast
|
|
|
| Scotoma |
|
Enlarged Blind Spot
|
Scotoma Of Blind Spot Area
|
|
Blind Spot Area Scotoma
|
Enlarged Angioscotoma
|
|
Enlarged Paracaecal Scotoma
|
Generalized Visual Field Contraction Or Constriction
|
|
Sector Or Arcuate Visual Field Defects
|
|
|
| 3-Methylglutaconic Aciduria, Type V |
|
3-Methylglutaconic Aciduria Type 5
|
Mga5
|
|
MGCA5
|
Dcma
|
|
Dcma Syndrome
|
Dilated Cardiomyopathy With Ataxia
|
|
3-Methylglutaconic Aciduria Type V
|
Mga Type V
|
|
Cardiomyopathy, Dilated, With Ataxia
|
Mga, Type V
|
|
Dilated Cardiomyopathy With Ataxia Syndrome
|
Dnajc19 Defect
|
|
3-Methylglutaconic Aciduria 5
|
3-Alpha-Methylglutaconic Aciduria Type 5
|
|
3-@Methylglutaconic Aciduria, Type V
|
|
|
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Peripheral Neuropathy And Optic Atrophy
|
Cmt6
|
|
Charcot-Marie-Tooth Disease Type 6
|
Hmsn Vi
|
|
HMSN6A
|
Hmsn Via
|
|
Hmsn6
|
Cmt6a
|
|
Charcot-Marie-Tooth Disease, Type 6
|
Hereditary Motor And Sensory Neuropathy Type 6
|
|
Hereditary Motor And Sensory Neuropathy Type Vi
|
Neuropathy, Hereditary Motor And Sensory, Type 6a
|
|
Neuropathy, Hereditary Motor And Sensory, Type Vi
|
Charcot-Marie-Tooth Disease, Type 6a
|
|
Hereditary Motor And Sensory Neuropathy Via
|
Hmsn 6
|
|
Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy
|
Charcot-Marie-Tooth Disease 6
|
|
Charcot-Marie-Tooth Disease 6a
|
Hereditary Motor And Sensory Neuropathy Type Via
|
|
Hereditary Motor And Sensory Neuropathy Vi
|
|
|
| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
|
Cranial Nerve Diseases
|
|
|
| Pontocerebellar Hypoplasia, Type 1e |
|
Pontocerebellar Hypoplasia Type 1
|
PCH1E
|
|
Norman Disease
|
Pch1
|
|
Pontocerebellar Hypoplasia With Anterior Horn Cell Disease
|
Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy
|
|
Pontocerebellar Hypoplasia Type 1e
|
Pontocerebellar Hypoplasia 1e
|
|
Doid:0112322
|
Doid:0112330
|
|
|
| Tritanopia |
|
Blue Color Blindness
|
Colorblindness, Tritan
|
|
Blue Colorblindness
|
CBT
|
|
Colorblindness, Tritanopic
|
Tritan Defect
|
|
Blue Colour Blindness
|
Congenital Tritanopia
|
|
Tritan Colour Blindness
|
Tritan Color Blindness
|
|
Color Vision Defects
|
Color Blindness, Blue
|
|
Color Vision Defect
|
Color Blindness
|
|
|
| Organic Acidemia |
|
Organic Aciduria
|
Disorder Of Organic Acid Metabolism
|
|
Organic Acid Metabolism Disorder
|
Organic Acidemias
|
|
Inherited Organic Acidemia
|
Organic Acidurias
|
|
Aciduria Organic
|
|
|
| Senile Ectropion |
|
|
| Spinocerebellar Ataxia 28 |
|
Spinocerebellar Ataxia Type 28
|
SCA28
|
|
Ataxia, Spinocerebellar, Type 28
|
|
|
| 3-Methylglutaconic Aciduria, Type Iv |
|
3-Methylglutaconic Aciduria Type 4
|
Mga4
|
|
MGCA4
|
3-Methylglutaconic Aciduria Type Iv
|
|
Mga, Type Iv
|
Mga Type Iv
|
|
Not Otherwise Specified 3-Mga-Uria Type
|
3 Alpha Methylglutaconic Aciduria Type Iv
|
|
3 Methylglutaconic Aciduria Type Iv
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Spastic Paraplegia 55, Autosomal Recessive |
|
SPG55
|
Hereditary Spastic Paraplegia 55
|
|
Autosomal Recessive Spastic Paraplegia Type 55
|
Autosomal Recessive Spastic Paraplegia 55
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 55
|
|
|
| Wolfram Syndrome |
|
Didmoad Syndrome
|
Didmoad
|
|
Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness
|
Wfs
|
|
Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness
|
Didmoadud
|
|
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome
|
Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
|
|
|
| Barth Syndrome |
|
3-Methylglutaconic Aciduria Type 2
|
BTHS
|
|
Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria
|
Mga Type Ii
|
|
Mga2
|
Mgca2
|
|
Mga Type 2
|
3-Methylglutaconic Aciduria Type Ii
|
|
3-Methylglutaconic Aciduria, Type Ii
|
Mga, Type Ii
|
|
3-Methylglutaconicaciduria Type 2
|
3-Methylglutaconicaciduria Type Ii
|
|
Taz Defect
|
3 Methylglutaconic Aciduria, Type Ii
|
|
Dnajc19 Defect
|
Cardioskeletal Myopathy-Neutropenia Syndrome
|
|
X-Linked Cardioskeletal Myopathy And Neutropenia
|
3-Alpha-Methylglutaconic Aciduria Type 2
|
|
Agm2
|
Cardioskeletal Myopathy-Neutropenia
|
|
Invm
|
Left Ventricular Non-Compaction Isolated X-Linked
|
|
Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked
|
Agammaglobulinemia 2, Autosomal Recessive
|
|
|
| Lens Disease |
|
|
| Exotropia |
|
Divergent Concomitant Strabismus
|
Divergent Strabismus
|
|
Divergent Squint
|
External Strabismus
|
|
Xt - [Exotropia]
|
|
|
| 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
|
|
|
| Amino Acid Metabolic Disorder |
|
Amino Acid Metabolism, Inborn Errors
|
Inborn Errors Of Amino Acid Metabolism
|
|
Disorder Of Amino Acid Metabolism
|
Amino Acid Metabolism Disorders
|
|
|
| Hereditary Spastic Paraplegia |
|
Familial Spastic Paraplegia
|
Hereditary Spastic Paraparesis
|
|
Strumpell-Lorrain Disease
|
Familial Spastic Paraparesis
|
|
Hsp
|
Spg
|
|
Strümpell-Lorrain Disease
|
Spastic Paraplegia, Hereditary
|
|
French Settlement Disease
|
Strumpell-Lorrain Syndrome
|
|
Fsp
|
Spastic Paraplegia, Familial
|
|
Spastic Paraplegia Hereditary
|
Spastic Paraplegia 3, Autosomal Dominant
|
|
Spastic Paraparesis
|
Hereditary Spastic Paralysis
|
|
Familial Spastic Paralysis
|
Hereditary Spastic Ataxia
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
