| Diseases |
Alias |
|
| Spastic Paraplegia 7, Autosomal Recessive |
|
SPG7
|
Hereditary Spastic Paraplegia 7
|
|
Spastic Paraplegia Type 7
|
Spastic Paraplegia 7
|
|
Hereditary Spastic Paraplegia, Paraplegin Type
|
Autosomal Recessive Spastic Paraplegia 7
|
|
Hereditary Spastic Paraplegia Paraplegin Type
|
Spastic Paraplegia-7
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 7
|
Spastic Paraplegia, Hereditary
|
|
Autosomal Recessive Hereditary Spastic Paraplegia
|
|
|
| Lateral Sclerosis |
|
Primary Lateral Sclerosis
|
Adult-Onset Primary Lateral Sclerosis
|
|
Adult-Onset Pls
|
Motor Neuron Disease
|
|
Pls
|
Pls - [Primary Lateral Sclerosis]
|
|
Lateral Spinal Sclerosis
|
Lateral Complete Paralysis
|
|
Lateral Incomplete Paralysis
|
Lateral Paralysis
|
|
|
| Polyneuropathy |
|
|
| 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
|
|
|
| Spastic Ataxia |
|
|
| Spastic Paraparesis |
|
|
| Mitochondrial Disease |
|
Mitochondrial Diseases
|
Mitochondrial Disorder
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| 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
|
|
|
| Spinocerebellar Ataxia 28 |
|
Spinocerebellar Ataxia Type 28
|
SCA28
|
|
Ataxia, Spinocerebellar, Type 28
|
|
|
| Spastic Ataxia 5 |
|
|
| Hypoparathyroidism |
|
Hypoparathyroidism, Idiopathic
|
Parathyroid, Underactivity Of
|
|
Syndrome With Hypoparathyroidism
|
Deficiency Of Parathyroid Hormone
|
|
Parathyroid Gland Insufficiency
|
Parathyroid Insufficiency
|
|
Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
|
|
|
| Spasticity |
|
|
| 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
|
|
|
| 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 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
|
|
|
| Secondary Hyperparathyroidism |
|
Hyperparathyroidism Secondary
|
Hyperparathyroidism, Secondary
|
|
Secondary Hyperparathyroidism Nec
|
|
|
| Spastic Paraplegia 13, Autosomal Dominant |
|
SPG13
|
Hereditary Spastic Paraplegia 13
|
|
Autosomal Dominant Spastic Paraplegia 13
|
Spastic Paraplegia 13
|
|
Autosomal Dominant Spastic Paraplegia Type 13
|
Spastic Paraplegia-13
|
|
Paraplegia, Spastic, Type 13
|
|
|
| Spastic Paraplegia 8, Autosomal Dominant |
|
SPG8
|
Hereditary Spastic Paraplegia 8
|
|
Autosomal Dominant Spastic Paraplegia Type 8
|
Autosomal Dominant Spastic Paraplegia 8
|
|
Paraplegia, Spastic, Autosomal Dominant, Type 8
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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 30 |
|
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
| Spastic Paraplegia 77, Autosomal Recessive |
|
SPG77
|
Hereditary Spastic Paraplegia 77
|
|
Autosomal Recessive Spastic Paraplegia 77
|
Autosomal Recessive Spastic Paraplegia Type 77
|
|
|
| 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
|
|
|
| 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
|
|
|
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
OPA10
|
Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures
|
|
Optic Atrophy 10
|
Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
|
|
|
| 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
|
|
|
| Conjugate Gaze Palsy |
|
Palsy Of Conjugate Gaze
|
Supranuclear Ocular Palsy
|
|
Gaze Palsy
|
|
|
| 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 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
|
|
|
| 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
|
|
|
| Optic Atrophy 9 |
|
OPA9
|
Atrophy, Optic, Type 9
|
|
|
| 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
|
|
|
| Spastic Paraplegia 63, Autosomal Recessive |
|
SPG63
|
Hereditary Spastic Paraplegia 63
|
|
Spastic Paraplegia 63
|
Autosomal Recessive Spastic Paraplegia 63
|
|
Autosomal Recessive Spastic Paraplegia Type 63
|
Paraplegia, Spastic, Type 63, Autosomal Recessive
|
|
|
| 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 6, Autosomal Dominant |
|
SPG6
|
Fsp3
|
|
Hereditary Spastic Paraplegia 6
|
Autosomal Dominant Spastic Paraplegia Type 6
|
|
Spastic Paraplegia 6
|
Familial Spastic Paraplegia Autosomal Dominant 3
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 3
|
Autosomal Dominant Familial Spastic Paraplegia Type 3
|
|
Autosomal Dominant Spastic Paraplegia 6
|
Spastic Paraplegia-6
|
|
Paraplegia, Spastic, Type 6
|
|
|
| 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 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
|
|
|
| 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
|
|
|
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
SANDO
|
Mitochondrial Recessive Ataxia Syndrome
|
|
Spinocerebellar Ataxia With Epilepsy
|
Epilepsy, Progressive Myoclonic 5
|
|
Epm5
|
Miras
|
|
SCAE
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive
|
|
Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions
|
Progressive Myoclonic Epilepsy Type 5
|
|
Pme Type 5
|
Progressive Myoclonus Epilepsy Type 5
|
|
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
|
Recessive Mitochondrial Ataxia Syndrome
|
|
Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis
|
Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome
|
|
Mscae
|
Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive
|
|
Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy
|
Epilepsy, Progressive Myoclonic, 5
|
|
Ataxia Neuropathy Spectrum
|
|
|
| Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency |
|
Congenital Myasthenic Syndrome 4c
|
CMS4C
|
|
Cms Id
|
Cms1d
|
|
Congenital Myasthenic Syndrome Type Id
|
Fim1
|
|
Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency
|
Myasthenic Syndrome, Congenital, Type Id
|
|
Cms1d, Formerly
|
Cms Id, Formerly
|
|
Myasthenia, Familial Infantile, 1, Formerly
|
Fim1, Formerly
|
|
Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency
|
Familial Infantile Myasthenia 1
|
|
Cms1e
|
Cms-Achrd
|
|
Cms Ie
|
Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency
|
|
Congenital Myasthenic Syndrome Type 1d
|
Congenital Myasthenic Syndrome Type 1e
|
|
Congenital Myasthenic Syndrome Type Ie
|
Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenia, Familial Infantile, 1
|
Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency
|
|
Myasthenic Syndrome, Congenital, Ie
|
|
|
| Spastic Paraplegia 14, Autosomal Recessive |
|
SPG14
|
Hereditary Spastic Paraplegia 14
|
|
Autosomal Recessive Spastic Paraplegia Type 14
|
Autosomal Recessive Spastic Paraplegia 14
|
|
Spastic Paraplegia 14
|
|
|
| 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
|
|
|
| Codas Syndrome |
|
Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome
|
Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome
|
|
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome
|
Cerebrooculodentoauriculoskeletal Syndrome
|
|
CODASS
|
Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
|
|
|
| Spastic Paraplegia 74, Autosomal Recessive |
|
SPG74
|
Hereditary Spastic Paraplegia 74
|
|
Autosomal Recessive Spastic Paraplegia 74
|
Autosomal Recessive Spastic Paraplegia Type 74
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 74
|
|
|
| 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
|
|
|
| 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 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
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Autosomal Recessive Spinocerebellar Ataxia 14
|
SCAR14
|
|
Sparca1
|
Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1
|
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia
|
Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur
|
|
Autosomal Recessive Spinocerebellar Ataxia Type 14
|
Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome
|
|
Sparca
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1
|
|
Spinocerebellar Ataxia, Autosomal Recessive, 14
|
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1
|
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
|
|
|
| Hereditary Spastic Paraplegia 49 |
|
Autosomal Recessive Spastic Paraplegia Type 49
|
Autosomal Recessive Spastic Paraplegia 49
|
|
Spg49
|
Paraplegia, Spastic, Type 49, Autosomal Recessive
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Hypertrophic Cardiomyopathy 16
|
CMH16
|
|
Cardiomyopathy, Hypertrophic, 16
|
Cardiomyopathy Familial Hypertrophic 16
|
|
Cardiomyopathy, Familial Hypertrophic 16
|
Cardiomyopathy, Hypertrophic, Familial, Type 16
|
|
|
| Neuronopathy, Distal Hereditary Motor, Type Va |
|
Dsmav
|
Distal Hereditary Motor Neuropathy Type V
|
|
Young Adult-Onset Distal Hereditary Motor Neuropathy
|
Neuronopathy, Distal Hereditary Motor, Type V
|
|
Distal Hereditary Motor Neuronopathy Type 5
|
Dhmn5
|
|
Distal Spinal Muscular Atrophy Type 5
|
HMN5A
|
|
Hmn5
|
Dhmn5a
|
|
Dhmn Va
|
Dsmava
|
|
Spinal Muscular Atrophy, Distal, With Upper Limb Predominance
|
Distal Hmn V
|
|
Autosomal Recessive Distal Spinal Muscular Atrophy Type 5
|
Dsma5
|
|
Young Adult-Onset Dhmn
|
Dhmn-V
|
|
Hmn V
|
Neuronopathy, Distal Hereditary Motor, Type 5a
|
|
Hmn 5a
|
Neuropathy, Distal Hereditary Motor, Type Va
|
|
Spinal Muscular Atrophy, Distal, Type Va
|
Spinal Muscular Atrophy, Distal, Type V
|
|
Distal Spinal Muscular Atrophy Type V
|
Distal Spinal Muscular Atrophy With Upper Limb Predominance
|
|
Distal Hereditary Motor Neuronopathy Type 5a
|
Distal Hmn Va
|
|
Distal Spinal Muscular Atrophy Type Va
|
Distal Hereditary Motor Neuropathy, Type V
|
|
Distal Hereditary Motor Neuronopathy, Type V
|
Distal Spinal Muscular Atrophy, Type V
|
|
Spinal Muscular Atrophy, Distal Type V
|
Distal Hereditary Motor Neuropathy Type 5
|
|
Neuronopathy, Distal Hereditary Motor, 5a
|
Dhmn V
|
|
Distal Hereditary Motor Neuronopathy Type Va
|
Distal Hereditary Motor Neuropathy Type Va
|
|
Dsma-V
|
Hmn Va
|
|
Spinal Muscular Atrophy Distal Type V
|
Spinal Muscular Atrophy Distal Type Va
|
|
Spinal Muscular Atrophy Distal With Upper Limb Predominance
|
Neuropathy, Distal Hereditary Motor, Type V
|
|
Neuropathy, Motor, Distal, Hereditary, Type Va
|
|
|
| Spastic Paraplegia 79, Autosomal Recessive |
|
Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome
|
SPG79
|
|
Neurodegeneration With Optic Atrophy, Childhood-Onset
|
Ndgoa
|
|
Hereditary Spastic Paraplegia 79
|
Spastic Paraplegia 79 Autosomal Recessive
|
|
Doid:0112344
|
Neurodegeneration, With Optic Atrophy, Childhood-Onset
|
|
|
| Infantile Cerebellar-Retinal Degeneration |
|
ICRD
|
Infantile Cerebellar Retinal Degeneration
|
|
Degeneration, Cerebellar-Retinal, Infantile
|
|
|
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Autosomal Recessive Early-Onset Parkinson Disease 7
|
PARK7
|
|
Parkinson'S Disease 7
|
Autosomal Recessive Early-Onset Parkinson'S Disease 7
|
|
Parkinson Disease 7
|
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Type 2
|
|
Autosomal Recessive Early-Onset Parkinson Disease Type 7
|
Parkinson Disease, Type 7
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 18 |
|
Hypertrophic Cardiomyopathy 18
|
CMH18
|
|
Cardiomyopathy, Hypertrophic, 18
|
Cardiomyopathy Familial Hypertrophic 18
|
|
Cardiomyopathy, Familial Hypertrophic 18
|
Cardiomyopathy, Hypertrophic, Familial, Type 18
|
|
|
| Ocular Motility Disease |
|
Ocular Motility Disorders
|
Abnormality Of Eye Movement
|
|
Disorder Of Eye Movements
|
Eye Movement Disorder
|
|
Eye Movement Disorders
|
|
|
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Arca1
|
Autosomal Recessive Cerebellar Ataxia Type 1
|
|
SCAR8
|
Autosomal Recessive Spinocerebellar Ataxia 8
|
|
Autosomal Recessive Ataxia, Beauce Type
|
Recessive Ataxia Of Beauce
|
|
Syne1-Related Autosomal Recessive Cerebellar Ataxia
|
Ataxia, Recessive, Of Beauce
|
|
Cerebellar Ataxia, Autosomal Recessive, Type 1
|
Spinocerebellar Ataxia Autosomal Recessive 8
|
|
Autosomal Recessive Ataxia Beauce Type
|
Spinocerebellar Ataxia, Autosomal Recessive, 8
|
|
Ataxia Recessive Of Beauce
|
Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
|
|
|
| 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
|
|
|
| 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
|
|
|
| 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
|
|
|
| Cranial Nerve Disease |
|
Cranial Nerve Disorder
|
Disorder Of Cranial Nerve
|
|
Cranial Nerve Diseases
|
|
|
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Hypertrophic Cardiomyopathy 17
|
CMH17
|
|
Cardiomyopathy, Hypertrophic, 17
|
Cardiomyopathy Familial Hypertrophic 17
|
|
Cardiomyopathy, Familial Hypertrophic 17
|
Cardiomyopathy, Hypertrophic, Familial, Type 17
|
|
|
| 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
|
|
|
| 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 45, Autosomal Recessive |
|
SPG45
|
Hereditary Spastic Paraplegia 45
|
|
Autosomal Recessive Spastic Paraplegia Type 45
|
Autosomal Recessive Spastic Paraplegia Type 65
|
|
Spg65
|
Autosomal Recessive Spastic Paraplegia 45
|
|
Paraplegia, Spastic, Type 45, Autosomal Recessive
|
|
|
| Hereditary Ataxia |
|
Sca
|
Spinocerebellar Ataxia
|
|
Ataxias Hereditary
|
Ataxias, Hereditary
|
|
|
| Cerebellar Disease |
|
Cerebellar Diseases
|
Cerebellar Dysfunction
|
|
Cerebellar Abnormality
|
Cerebellar Disorders
|
|
|
| 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
|
|
|
| Kbg Syndrome |
|
KBGS
|
Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies
|
|
Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies
|
Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies
|
|
Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome
|
Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
|
|
|
| 3-Methylglutaconic Aciduria |
|
3-Methyl Glutaconic Aciduria
|
|
|
| Mitochondrial Dna Depletion Syndrome 7 |
|
Ohaha Syndrome
|
Infantile Onset Spinocerebellar Ataxia
|
|
Iosca
|
Infantile-Onset Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxia 8
|
MTDPS7
|
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis
|
Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
|
|
Sca8
|
Spinocerebellar Ataxia Infantile With Sensory Neuropathy
|
|
Spinocerebellar Ataxia, Infantile-Onset
|
Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
|
|
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy
|
Spinocerebellar Ataxia 8, Formerly
|
|
Sca8, Formerly
|
Iosca, Mitochondrial Dna Depletion Syndrome 7
|
|
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis
|
Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
|
|
Mtdna Depletion Syndrome, Hepatocerebrorenal Form
|
Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
|
|
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis
|
Pure Spinocerebellar Ataxia Japanese Type
|
|
Sca4 Pure Japanese Type
|
Spinocerebellar Ataxia Infantile-Onset
|
|
Mitochondrial Dna Depletion Syndrome , Type 7
|
|
|
| Autosomal Dominant Cerebellar Ataxia |
|
Spinocerebellar Ataxia
|
Adca
|
|
Pierre Marie Cerebellar Ataxia
|
Ataxia, Spinocerebellar
|
|
Sca
|
Autosomal Dominant Spinocerebellar Ataxia
|
|
Spinocerebellar Ataxias
|
|
|
| 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
|
|
|
| Autosomal Recessive Cerebellar Ataxia |
|
|
| Mitochondrial Myopathy |
|
Mitochondrial Myopathies
|
Mitochondrial Cytopathy
|
|
Myopathies In Mitochondrial Disorders
|
|
|
| Perrault Syndrome |
|
Gonadal Dysgenesis, Xx Type, With Deafness
|
Ovarian Dysgenesis With Sensorineural Deafness
|
|
Gonadal Dysgenesis, Xx Type
|
Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance
|
|
Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance
|
Xx Gonodal Dysgenesis-Deafness Syndrome
|
|
Xx Gonodal Dysgenesis-Hearing Loss Syndrome
|
Gonadal Dysgenesis Xx Type Deafness
|
|
|
| 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
|
|
|
| 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
|
|
|
| Mitochondrial Dna Depletion Syndrome 4a |
|
Alpers Syndrome
|
Alpers-Huttenlocher Syndrome
|
|
Alpers Progressive Infantile Poliodystrophy
|
Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
|
|
Alpers Disease
|
Progressive Sclerosing Poliodystrophy
|
|
Pndc
|
Diffuse Cerebral Sclerosis Of Schilder
|
|
MTDPS4A
|
Neuronal Degeneration Of Childhood With Liver Disease, Progressive
|
|
Alper'S Syndrome
|
Alpers' Disease Or Gray-Matter Degeneration
|
|
Diffuse Cerebral Degeneration In Infancy
|
Infantile Poliodystrophy
|
|
Poliodystrophia Cerebri Progressiva
|
Progressive Cerebral Poliodystrophy
|
|
Alpers' Disease
|
Alpers Progressive Sclerosing Poliodystrophy
|
|
Progressive Neuronal Degeneration Of Childhood With Liver Disease
|
Ahs
|
|
Mitochondrial Dna Depletion Syndrome 4a Alpers Type
|
Neuronal Degeneration Of Childhood With Liver Disease Progressive
|
|
|
| Ptosis |
|
Blepharoptosis
|
Drooping Eyelid
|
|
Droopy Eyelid
|
Ptosis Of Eyelid
|
|
Paralysis Of Levator Palpebrae Superioris
|
|
|
| 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
|
|
|
| Peripheral Nervous System Disease |
|
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|
| 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
|
|
|
