| Diseases |
Alias |
|
| Gracile Syndrome |
|
Finnish Lethal Neonatal Metabolic Syndrome
|
Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death
|
|
Flnms
|
Fellman Syndrome
|
|
Fellman Disease
|
Finnish Lactic Acidosis With Hepatic Hemosiderosis
|
|
Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
|
Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome
|
|
Lactic Acidosis, Finnish, With Hepatic Hemosiderosis
|
Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death
|
|
GRACILE
|
|
|
| Mitochondrial Dna Depletion Syndrome |
|
|
| Mitochondrial Dna Depletion Syndrome 6 |
|
Navajo Neurohepatopathy
|
Navajo Neuropathy
|
|
MTDPS6
|
Nnh
|
|
Nn
|
Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
|
|
Navajo Familial Neurogenic Arthropathy
|
Mpv17-Associated Hepatocerebral Mds
|
|
Mitochondrial Dna Depletion 6 Hepatocerebral Type
|
Mitochondrial Dna Depletion Syndrome , Type 6
|
|
|
| 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
|
|
|
| Xeroderma Pigmentosum, Complementation Group B |
|
Xeroderma Pigmentosum Group B
|
Xeroderma Pigmentosum, Group B
|
|
XPB
|
Xpbc
|
|
Xp Group B
|
Xp, Group B
|
|
Xeroderma Pigmentosum Complementation Group B
|
XP-B
|
|
Xeroderma Pigmentosum Group B With Cockayne Syndrome
|
Xeroderma Pigmentosum Ii
|
|
Xp2
|
Xp-B/Cs
|
|
|
| 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
|
|
|
| Parkinson Disease 4, Autosomal Dominant |
|
Autosomal Dominant Parkinson Disease 4
|
PARK4
|
|
Parkinson Disease 4, Autosomal Dominant Lewy Body
|
Parkinson Disease 4
|
|
Parkinson'S Disease 4
|
Autosomal Dominant Lewy Body Parkinson Disease 4
|
|
Autosomal Dominant Parkinson'S Disease 4
|
Parkinson Disease 4 Autosomal Dominant Lewy Body
|
|
Parkinson Disease Autosomal Dominant 4
|
Parkinson Disease Familial Type 4
|
|
Parkinson Disease, Type 4
|
|
|
| Combined Oxidative Phosphorylation Deficiency 37 |
|
|
| 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
|
|
|
| Wolf-Hirschhorn Syndrome |
|
Pitt-Rogers-Danks Syndrome
|
WHS
|
|
Chromosome 4p16.3 Deletion Syndrome
|
Wittwer Syndrome
|
|
4p- Syndrome
|
Pitt Syndrome
|
|
4p Deletion Syndrome
|
Distal Deletion 4p
|
|
Distal Monosomy 4p
|
Telomeric Deletion 4p
|
|
Prds
|
4p Syndrome
|
|
Chromosome 4p Syndrome
|
Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation
|
|
Wolf Syndrome
|
Chromosome 4p Deletion Syndrome
|
|
Chromosome 4p Monosomy
|
Del Syndrome
|
|
Monosomy 4p
|
Partial Monosomy 4p
|
|
Chromosome 4 Short Arm Deletion
|
|
|
| Frontotemporal Dementia |
|
Pallidopontonigral Degeneration
|
Frontotemporal Lobar Degeneration
|
|
Semantic Dementia
|
FTD
|
|
Frontotemporal Lobe Dementia
|
Multiple System Tauopathy With Presenile Dementia
|
|
Dementia, Frontotemporal
|
Frontotemporal Dementia With Parkinsonism
|
|
Mstd
|
Frontotemporal Lobar Degeneration With Tau Inclusions
|
|
Ftld With Tau Inclusions
|
Dementia, Frontotemporal, With Parkinsonism
|
|
Fldem
|
Ftdp17
|
|
Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex
|
Ddpac
|
|
Wilhelmsen-Lynch Disease
|
Wld
|
|
Ppnd
|
Dementia, Frontotemporal, With Or Without Parkinsonism
|
|
Semantic Primary Progressive Aphasia
|
Semantic Variant Ppa
|
|
Wilhemsen-Lynch Disease
|
Frontotemporal Dementia-Amyotrophic Lateral Sclerosis
|
|
Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17
|
Ftd-Als
|
|
Ftld
|
Pick Complex
|
|
Pick Disease Of The Brain
|
Frontotemporal Dementia With Parkinsonism-17
|
|
Grn-Related Frontotemporal Dementia
|
Frontotemporal Dementia With Motor Neuron Disease
|
|
Dementia In Fronto-Temporal Lobar Degeneration
|
Ftd - [Frontotemporal Dementia]
|
|
Temple Dementia
|
Frontal Lobe Dementia
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
|
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
PEOA4
|
Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
|
|
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4
|
Chronic Progressive External Ophthalmoplegia
|
|
Progressive External Ophthalmoplegia, Autosomal Dominant 4
|
Autosomal Dominant Progressive External Ophthalmoplegia 4
|
|
Cpeo
|
Graefe Disease
|
|
Mitochondrial Ocular Myopathy
|
Ocular Myopathy Of Von Graefe-Fuchs
|
|
Progressive External Ophthalmoplegia Autosomal Dominant 4
|
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
|
|
Kearns-Sayre 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
|
|
|
| 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
|
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Charcot-Marie-Tooth Disease Type 4
|
Charcot-Marie-Tooth Disease Type 4e
|
|
Hereditary Motor And Sensory Neuropathy
|
Cmt4e
|
|
CHN1
|
Hypomyelinating Neuropathy, Congenital, 1
|
|
Charcot-Marie-Tooth Neuropathy Type 4e
|
Neuropathy, Congenital Hypomyelinating, 1
|
|
Ar-Cmt1
|
Autosomal Recessive Demyelinating Charcot-Marie-Tooth
|
|
Cmt4
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive
|
|
Hypomyelination, Severe Congenital
|
Charcot-Marie-Tooth Disease, Type 4e
|
|
Charcot-Marie-Tooth Neuropathy, Type 4e
|
Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy
|
|
Autosomal Recessive Congenital Hypomyelinating Neuropathy
|
Congenital Amyelinating Neuropathy
|
|
Congenital Hypomyelinating Neuropathy Autosomal Recessive
|
Neuropathy, Congenital Hypomyelinating Or Amyelinating
|
|
Severe Congenital Hypomyelination
|
Hereditary Sensory Motor Neuropathy
|
|
Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive
|
Neuropathy, Hypomyelinating, Congenital, Type 1
|
|
Neuropathy, Motor And Sensory, Hereditary
|
Congenital Hypomyelinating Neuropathy
|
|
Hereditary Motor And Sensory Neuropathies
|
Hereditary Sensorimotor Neuropathy
|
|
Hmsn - [Hereditary Motor And Sensory Neuropathy]
|
Hsmn - [Hereditary Sensory And Motor Neuropathy]
|
|
Hereditary Motor And Sensory Neuropathy, Types I-Iv
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| 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
|
|
|
