Diseases |
Alias |
|
Spastic Paraplegia 15, Autosomal Recessive |
SPG15
|
Kjellin Syndrome
|
Hereditary Spastic Paraplegia 15
|
Spastic Paraplegia And Retinal Degeneration
|
Autosomal Recessive Spastic Paraplegia Type 15
|
Hereditary Spastic Paraparesis Type 15
|
Spastic Paraplegia-Retinal Degeneration Syndrome
|
Autosomal Recessive Spastic Paraplegia 15
|
|
|
Spastic Paraplegia 15 |
Spg15
|
Kjellin Syndrome
|
Spastic Paraplegia And Retinal Degeneration
|
Hereditary Spastic Paraplegia Type 15
|
Hsp-Zfyve26
|
Zfyve26-Related Hereditary Spastic Paraplegia
|
Recessive Spastic Paraplegia With Retinal Degeneration
|
Spastic Paraplegia Type 15
|
Autosomal Recessive Spastic Paraplegia 15
|
Paraplegia, Spastic, Type 15
|
Spastic Paraplegia 15, Autosomal Recessive
|
|
|
Leber Congenital Amaurosis 13 |
LCA13
|
Retinitis Pigmentosa 53
|
RP53
|
Leber Congenital Amaurosis, Type 13
|
|
|
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
|
|
|
Eye Disease |
Eye Diseases
|
Abnormality Of The Eye
|
Toxoplasma Oculopathy
|
|
|
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
|
|
|
Cone-Rod Dystrophy 2 |
Cone-Rod Dystrophy
|
CORD2
|
Cone-Rod Retinal Dystrophy
|
Rcrd2
|
Cone-Rod Retinal Dystrophy 2
|
Crd2
|
Cord
|
Crd
|
Retinal Cone-Rod Dystrophy
|
Cone-Rod Retinal Dystrophy-2
|
Retinal Cone-Rod Dystrophy 2
|
Tapetoretinal Degeneration
|
Cone-Rod Degeneration
|
Cone Rod Dystrophy
|
Dystrophy, Cone-Rod
|
Dystrophy, Cone-Rod, Type 2
|
Retinitis Pigmentosa
|
Retinitis Pigmentosa 2
|
Progressive Cone-Rod Dystrophy
|
|
|
Retinitis Pigmentosa |
RP
|
Rod-Cone Dystrophy
|
Autosomal Recessive Retinitis Pigmentosa
|
Non-Syndromic Retinitis Pigmentosa
|
Pericentral Pigmentary Retinopathy
|
Pigmentary Retinopathy
|
Tapetoretinal Degeneration
|
Rcd
|
Retinitis Pigmentosa Autosomal Recessive
|
ARRP
|
Retinitis Pigmentosa, Autosomal Recessive
|
Retinitis Pigmentosa 1
|
|
|
Fundus Dystrophy |
Retinal Dystrophy
|
Retinal Dystrophies
|
Dystrophy, Retinal
|
|
|
Paraplegia |
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
Hereditary Spastic Paraplegia 49 |
Autosomal Recessive Spastic Paraplegia Type 49
|
Autosomal Recessive Spastic Paraplegia 49
|
Spg49
|
Paraplegia, Spastic, Type 49, Autosomal Recessive
|
|
|
Spastic Paraplegia 77, Autosomal Recessive |
SPG77
|
Hereditary Spastic Paraplegia 77
|
Autosomal Recessive Spastic Paraplegia 77
|
Autosomal Recessive Spastic Paraplegia Type 77
|
|
|
Spastic Paraplegia 48, Autosomal Recessive |
SPG48
|
Hereditary Spastic Paraplegia 48
|
Autosomal Recessive Spastic Paraplegia Type 48
|
Autosomal Recessive Spastic Paraplegia 48
|
Paraplegia, Spastic, Type 48, Autosomal Recessive
|
|
|
Spastic Paraplegia 43, Autosomal Recessive |
SPG43
|
Hereditary Spastic Paraplegia 43
|
Autosomal Recessive Spastic Paraplegia Type 43
|
Autosomal Recessive Spastic Paraplegia 43
|
Paraplegia, Spastic, Type 43, Autosomal Recessive
|
|
|
Spastic Paraplegia 11, Autosomal Recessive |
SPG11
|
Hereditary Spastic Paraplegia 11
|
Hsp-Tcc
|
Autosomal Recessive Spastic Paraplegia Type 11
|
Nakamura-Osame Syndrome
|
Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome
|
Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum
|
Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum
|
Autosomal Recessive Spastic Paraplegia 11
|
Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum
|
Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum
|
Arhsp-Tcc
|
Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum
|
Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum
|
Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum
|
Paraplegia, Spastic, Autosomal Recessive, Type 11
|
Nakamura Osame Syndrome
|
|
|
Spastic Paraplegia 82, Autosomal Recessive |
SPG82
|
Hereditary Spastic Paraplegia 82
|
Spastic Paraplegia 82 Autosomal Recessive
|
Doid:0112343
|
|
|
Spastic Paraplegia 3, Autosomal Dominant |
SPG3A
|
Strumpell Disease
|
Hereditary Spastic Paraplegia 3a
|
SPG3
|
Fsp1
|
Autosomal Dominant Spastic Paraplegia Type 3
|
Familial Spastic Paraplegia, Autosomal Dominant, 1
|
Spastic Paraplegia 3a, Autosomal Dominant
|
Autosomal Dominant Familial Spastic Paraplegia 1
|
Autosomal Dominant Spastic Paraplegia 3
|
Spastic Paraplegia 3
|
Familial Spastic Paraplegia Autosomal Dominant 1
|
Strumpell-Lorrain Syndrome
|
Paraplegia, Spastic, Autosomal Dominant, Type 3a
|
Spastic Paraplegia, Hereditary
|
|
|
Axonal Neuropathy |
|
|
Spastic Paraplegia 78, Autosomal Recessive |
SPG78
|
Autosomal Recessive Spastic Paraplegia Type 78
|
Hereditary Spastic Paraplegia 78
|
Spastic Paraplegia 78 Autosomal Recessive
|
Doid:0112348
|
|
|
Spastic Paraplegia 64, Autosomal Recessive |
SPG64
|
Hereditary Spastic Paraplegia 64
|
Autosomal Recessive Spastic Paraplegia Type 64
|
Autosomal Recessive Spastic Paraplegia 64
|
Paraplegia, Spastic, Type 64, Autosomal Recessive
|
|
|
Spastic Paraplegia 18, Autosomal Recessive |
SPG18
|
Idmdc
|
Hereditary Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction, And Joint Contractures
|
Autosomal Recessive Spastic Paraplegia Type 18
|
Autosomal Recessive Spastic Paraplegia 18
|
Intellectual Disability, Motor Dysfunction And Joint Contractures
|
Spastic Paraplegia 18
|
Intellectual Disability Motor Dysfunction And Joint Contractures
|
Paraplegia, Spastic, Type 18
|
|
|
Hereditary Spastic Paraplegia 23 |
Lison Syndrome
|
Spastic Paraparesis-Vitiligo-Premature Graying-Characteristic Facies Syndrome
|
Spastic Paraplegia 23
|
Spastic Paraplegia With Pigmentary Abnormalities
|
Spg23
|
|
|
Spastic Paraplegia 53, Autosomal Recessive |
SPG53
|
Hereditary Spastic Paraplegia 53
|
Autosomal Recessive Spastic Paraplegia Type 53
|
Autosomal Recessive Spastic Paraplegia 53
|
Paraplegia, Spastic, Type 53, Autosomal Recessive
|
|
|
Masa Syndrome |
L1 Syndrome
|
Crash Syndrome
|
X-Linked Hydrocephalus Syndrome
|
SPG1
|
Gareis-Mason Syndrome
|
Spastic Paraplegia 1, X-Linked
|
Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome
|
L1cam Syndrome
|
Spastic Paraplegia 1
|
Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs
|
Clasped Thumb And Mental Retardation
|
Thumb, Congenital Clasped, With Mental Retardation
|
Adducted Thumb With Mental Retardation
|
Hereditary Spastic Paraplegia 1
|
X-Linked Complicated Hereditary Spastic Paraplegia Type 1
|
X-Linked Corpus Callosum Agenesis
|
X-Linked Spastic Paraplegia 1
|
L1 Disease
|
X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis
|
Adducted Thumb With Intellectual Disability
|
Clasped Thumb And Intellectual Disability
|
Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs
|
Thumb Congenital Clasped With Intellectual Disability
|
X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome
|
Adducted Thumbs-Mental Retardation Syndrome
|
Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome
|
Mental Retardation-Clasped Thumb Syndrome
|
Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome
|
Spastic Paraplegia Type 1, X-Linked
|
MASA
|
Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus
|
Crash
|
Masa Syndrome
|
|
|
Spastic Paraplegia 19, Autosomal Dominant |
SPG19
|
Hereditary Spastic Paraplegia 19
|
Autosomal Dominant Spastic Paraplegia Type 19
|
Autosomal Dominant Spastic Paraplegia 19
|
Spastic Paraplegia 19
|
Spastic Paraplegia-19
|
|
|
Spastic Paraplegia 26, Autosomal Recessive |
SPG26
|
Hereditary Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia Type 26
|
Gm2 Synthase Deficiency
|
Spastic Paraplegia 26
|
Autosomal Recessive Spastic Paraplegia 26
|
Paraplegia, Spastic, Autosomal Recessive, Type 26
|
|
|
Spastic Paraplegia 42, Autosomal Dominant |
SPG42
|
Hereditary Spastic Paraplegia 42
|
Autosomal Dominant Spastic Paraplegia Type 42
|
Autosomal Dominant Spastic Paraplegia 42
|
Paraplegia, Spastic, Type 42, Autosomal Dominant
|
|
|
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
|
|
|
Nescav Syndrome |
NESCAVS
|
Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment
|
Mrd9
|
Intellectual Disability, Autosomal Dominant 9
|
Mental Retardation, Autosomal Dominant 9, Formerly
|
Mrd9, Formerly
|
Autosomal Dominant Intellectual Disability 9
|
Autosomal Dominant Non-Syndromic Intellectual Disability 9
|
Mental Retardation, Autosomal Dominant 9
|
|
|
Spastic Paraplegia 61, Autosomal Recessive |
SPG61
|
Hereditary Spastic Paraplegia 61
|
Autosomal Recessive Spastic Paraplegia Type 61
|
Autosomal Recessive Spastic Paraplegia 61
|
Paraplegia, Spastic, Type 61, Autosomal Recessive
|
|
|
Spastic Paraplegia 14, Autosomal Recessive |
SPG14
|
Hereditary Spastic Paraplegia 14
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
Spastic Paraplegia 14
|
|
|
Spastic Paraplegia 44, Autosomal Recessive |
SPG44
|
Hereditary Spastic Paraplegia 44
|
Autosomal Recessive Spastic Paraplegia 44
|
Autosomal Recessive Spastic Paraplegia Type 44
|
Paraplegia, Spastic, Type 44, Autosomal Recessive
|
|
|
Hereditary Spastic Paraplegia 35 |
Autosomal Recessive Spastic Paraplegia Type 35
|
Spg35
|
Autosomal Recessive Spastic Paraplegia 35
|
Fahn
|
Fatty Acid Hydroxylase-Associated Neurodegeneration
|
Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
|
|
|
Spastic Paraplegia 75, Autosomal Recessive |
SPG75
|
Hereditary Spastic Paraplegia 75
|
Autosomal Recessive Spastic Paraplegia Type 75
|
Autosomal Recessive Spastic Paraplegia 75
|
|
|
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
Mitochondrial Complex Iii Deficiency Nuclear Type 2
|
MC3DN2
|
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
|
MC2DN3
|
Mitochondrial Complex 2 Deficiency, Nuclear Type 3
|
Mitochondrial Complex Iii Deficiency, Nuclear 2
|
|
|
Spastic Paraplegia 34, X-Linked |
SPG34
|
Hereditary Spastic Paraplegia 34
|
X-Linked Spastic Paraplegia Type 34
|
X-Linked Spastic Paraplegia 34
|
|
|
Spastic Paraplegia 54, Autosomal Recessive |
SPG54
|
Hereditary Spastic Paraplegia 54
|
Autosomal Recessive Spastic Paraplegia Type 54
|
Autosomal Recessive Spastic Paraplegia 54
|
Paraplegia, Spastic, Type 54, Autosomal Recessive
|
|
|
Spastic Paraplegia 31, Autosomal Dominant |
SPG31
|
Hereditary Spastic Paraplegia 31
|
Spastic Paraplegia 31
|
Autosomal Dominant Spastic Paraplegia 31
|
Autosomal Dominant Spastic Paraplegia Type 31
|
Spastic Paraplegia Type 31
|
Paraplegia, Spastic, Autosomal Dominant, Type 31
|
|
|
Spastic Paraplegia 10, Autosomal Dominant |
SPG10
|
Hereditary Spastic Paraplegia 10
|
Autosomal Dominant Spastic Paraplegia Type 10
|
Spastic Paraplegia 10
|
Spastic Paraplegia 10 With Or Without Peripheral Neuropathy
|
Autosomal Dominant Spastic Paraplegia 10
|
Autosomal Dominant Spastic Paraplegia
|
Spastic Paraplegia, Autosomal Dominant
|
Paraplegia, Spastic, Autosomal Dominant, Type 10
|
|
|
Giant Axonal Neuropathy 1, Autosomal Recessive |
Giant Axonal Neuropathy
|
Giant Axonal Neuropathy 1
|
Gan
|
GAN1
|
Giant Axonal Neuropathy-1
|
Neuropathy, Giant Axonal
|
Giant Axonal Disease
|
Neuropathy, Axonal, Giant, Type 1
|
|
|
Motor Peripheral Neuropathy |
Motor Neuritis
|
Peripheral Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathy
|
Hsmn
|
Hsmn - Hereditary Sensory And Motor Neuropathy
|
Neuropathic Muscular Atrophy
|
Hereditary Sensory And Motor Neuropathy
|
Hereditary Motor And Sensory Neuropathies
|
|
|
Hereditary Spastic Paraplegia 30 |
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
Pontocerebellar Hypoplasia, Type 2e |
Pontocerebellar Hypoplasia Type 2
|
Pontocerebellar Hypoplasia Type 2e
|
Pch2
|
PCH2E
|
Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy
|
Pontocerebellar Hypoplasia 2e
|
Pcca2
|
Progressive Cerebello-Cerebral Atrophy Type 2
|
Doid:0112328
|
Hypoplasia, Pontocerebellar, Type 2e
|
Pontocerebellar Hypoplasia, Type 2d
|
Pontocerebellar Hypoplasia Type 2a
|
|
|
Spinocerebellar Ataxia, Autosomal Recessive 20 |
Autosomal Recessive Spinocerebellar Ataxia 20
|
SCAR20
|
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
|
Autosomal Recessive Spinocerebellar Ataxia Type 20
|
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypoplasia Syndrome
|
Spinocerebellar Ataxia, Autosomal Recessive, 20
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 20
|
|
|
Spastic Paraplegia 20, Autosomal Recessive |
Troyer Syndrome
|
SPG20
|
Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting
|
Spastic Paraplegia, Autosomal Recessive, Troyer Type
|
Autosomal Recessive Spastic Paraplegia Type 20
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
Spastic Paraplegia 20
|
Cross-Mckusick Syndrome
|
Autosomal Recessive Spastic Paraplegia 20
|
Autosomal Recessive Spastic Paraplegia Troyer Type
|
Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting
|
Hereditary Spastic Paraplegia 20
|
Spastic Paraplegia Type 20
|
Hereditary Spastic Paraplegia
|
Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome
|
Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting
|
Spastic Paraplegia Autosomal Recessive Troyer Type
|
Trs
|
Spastic Paraplegia Hereditary Autosomal Recessive
|
Spastic Paraplegia, Hereditary
|
|
|
Spastic Paraplegia 80, Autosomal Dominant |
SPG80
|
Hereditary Spastic Paraplegia 80
|
Spastic Paraplegia 80 Autosomal Dominant
|
Doid:0112341
|
|
|
Lichtenstein-Knorr Syndrome |
Scar19
|
LIKNS
|
Autosomal Recessive Spinocerebellar Ataxia 19
|
Spinocerebellar Ataxia, Autosomal Recessive 19
|
Progressive Autosomal Recessive Ataxia-Deafness Syndrome
|
Progressive Autosomal Recessive Ataxia-Sensorineural Hearing Loss Syndrome
|
Spinocerebellar Ataxia, Autosomal Recessive, 19
|
|
|
Spastic Paraplegia 5a, Autosomal Recessive |
SPG5A
|
Hereditary Spastic Paraplegia 5a
|
Autosomal Recessive Spastic Paraplegia 5a
|
Autosomal Recessive Spastic Paraplegia Type 5a
|
Spastic Paraplegia 5a
|
Spastic Paraplegia Type 5a
|
Spastic Paraplegia Type 5a, Recessive
|
Autosomal Recessive Spastic Paraplegia
|
Spastic Paraplegia-5a
|
Paraplegia, Spastic, Autosomal Recessive, Type 5a
|
|
|
Holocarboxylase Synthetase Deficiency |
HLCS DEFICIENCY
|
Early-Onset Multiple Carboxylase Deficiency
|
Biotin- Ligase Deficiency
|
Neonatal Multiple Carboxylase Deficiency
|
Multiple Carboxylase Deficiency, Neonatal Form
|
Multiple Carboxylase Deficiency, Early Onset
|
Multiple Carboxylase Deficiency - Neonatal Onset
|
Early-Onset Biotin-Responsive Multiple Carboxylase Deficiency
|
Early-Onset Combined Carboxylase Deficiency
|
Infantile Multiple Carboxylase Deficiency
|
Biotin-Responsive Mcd
|
Biotin-Responsive Multiple Carboxylase Deficiency
|
Early-Onset Mcd
|
Mcd Neonatal Form
|
|
|
Spastic Paraplegia 2, X-Linked |
SPG2
|
Hereditary Spastic Paraplegia 2
|
Sppx2
|
Spastic Paraplegia Type 2
|
Spastic Paraplegia 2
|
Hereditary X-Linked Recessive Spastic Paraplegia
|
X-Linked Spastic Paraplegia 2
|
X Linked Recessive Hereditary Spastic Paraplegia
|
Spastic Gait Type 2
|
Spastic Paraparesis Type 2
|
X-Linked Spastic Paraplegia Type 2
|
Spastic Paraplegia Type 2, X-Linked
|
Spastic Paraplegia-2
|
Paraplegia, Spastic, Type 2
|
|
|
Neurodegeneration With Brain Iron Accumulation 5 |
NBIA5
|
Beta-Propeller Protein-Associated Neurodegeneration
|
Bpan
|
Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood
|
Senda
|
Neurodegeneration With Brain Iron Accumulation Type 5
|
Neurodegeneration With Brain Iron Accululation 5
|
Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood
|
Neurodegeneration, With Brain Iron Accululation, Type 5
|
|
|
Alpha Thalassemia-Intellectual Disability Syndrome Type 1 |
Alpha Thalassemia-Intellectual Disability Syndrome, Deletion Type
|
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
|
Atr Syndrome Linked To Chromosome 16
|
Atr Syndrome, Deletion Type
|
Atr-16 Syndrome
|
Alpha Thalassemia-Retardation Syndrome
|
Alpha-Thalassemia/Mental Retardation Syndrome, Deletion-Type
|
Alpha-Thalassemia/Mental Retardation Syndrome, Type 1
|
Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type
|
|
|
Tyrosinemia, Type Ii |
Tyrosinemia Type Ii
|
Oculocutaneous Tyrosinemia
|
Richner-Hanhart Syndrome
|
Tyrosine Aminotransferase Deficiency
|
Tat Deficiency
|
Tyrosine Transaminase Deficiency
|
Keratosis Palmoplantaris With Corneal Dystrophy
|
TYRSN2
|
Oregon Type Tyrosinemia
|
Tyrosinemia Type 2
|
Tyrosinosis Oculocutaneous Type
|
Tyrosinosis, Oculocutaneous Type
|
Richner Hanhart Syndrome
|
Keratosis Palmoplantaris-Corneal Dystrophy Syndrome
|
Tyrosinemia Due To Tat Deficiency
|
Tyrosinemia Due To Tyrosine Aminotransferase Deficiency
|
Tyrosinemia 2
|
Tyrosinemia Oregon Type
|
Tyrosine Transaminase Deficiency Disease
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2e |
Charcot-Marie-Tooth Disease Type 2
|
CMT2E
|
CMT2S
|
CMT2Y
|
Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease Axonal Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2s
|
Charcot-Marie-Tooth Disease, Type 2e
|
Hereditary Motor And Sensory Neuropathy Type 2
|
Charcot-Marie-Tooth Neuropathy, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
|
Charcot-Marie-Tooth Disease, Axonal, Type 2y
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
|
Charcot-Marie-Tooth Neuropathy, Type 2y
|
Charcot-Marie-Tooth Disease, Type 2y
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e
|
Charcot-Marie-Tooth Neuropathy Type 2e
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation
|
Cmt2 Due To Vcp Mutation
|
Charcot-Marie-Tooth Disease Type 2s
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease
|
Cmt2
|
Charcot-Marie-Tooth Neuropathy, Type 2e
|
Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
|
Hereditary Motor And Sensory Neuropathy Okinawa Type
|
Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
|
Charcot-Marie-Tooth Neuropathy Type 2y
|
Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
|
Charcot-Marie-Tooth Neuropathy Type 2s
|
Charcot-Marie-Tooth Type 2
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y
|
Charcot-Marie-Tooth Disease 2e
|
Charcot-Marie-Tooth Disease Axonal Type 2e
|
Charcot-Marie-Tooth Disease Neuronal Type 2e
|
Charcot-Marie-Tooth Disease 2s
|
Charcot-Marie-Tooth Neuropathy Axonal Type 2s
|
Charcot-Marie-Tooth Disease 2y
|
Charcot-Marie-Tooth Disease, Type 2
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
|
|
Retinal Degeneration |
|
|
Spastic Ataxia |
|
|
Charcot-Marie-Tooth Disease |
Cmt
|
Hmsn
|
Hereditary Motor And Sensory Neuropathy
|
Pma
|
Cmt - Charcot-Marie-Tooth Disease
|
Charcot Marie Tooth Disease
|
Charcot-Marie-Tooth Hereditary Neuropathy
|
Charcot-Marie-Tooth Syndrome
|
Peroneal Muscular Atrophy
|
Hereditary Motor And Sensory Neuropathies
|
|
|