Diseases |
Alias |
|
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 30, Autosomal Dominant |
Spastic Paraplegia 30, Autosomal Recessive
|
SPG30
|
Spastic Paraplegia 30
|
Paraplegia, Spastic, Type 30, Autosomal Recessive
|
|
|
Neuropathy, Hereditary Sensory, Type Iic |
HSN2C
|
Hereditary Sensory Neuropathy Type 2c
|
Hereditary Sensory Neuropathy Type Iic
|
Neuropathy, Hereditary Sensory, Type 2c
|
Neuropathy, Hereditary Sensory, 2c
|
Hsn Iice
|
Neuropathy, Sensory, Hereditary, Type Iic
|
|
|
Hereditary Spastic Paraplegia 30 |
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
Hereditary Sensory And Autonomic Neuropathy Type 2
|
Hsan2
|
HSAN2A
|
Morvan Disease
|
Hereditary Sensory And Autonomic Neuropathy Type Ii
|
Neurogenic Acroosteolysis
|
Hsan Iia
|
Hsn2a
|
Hsn Iia
|
Neuropathy, Progressive Sensory, Of Children
|
Neuropathy, Congenital Sensory
|
Neuropathy, Hereditary Sensory And Autonomic, Type Ii
|
Hereditary Sensory And Autonomic Neuropathy Type 2a
|
Hereditary Sensory And Autonomic Neuropathy Type Iia
|
Hsanii
|
Congenital Sensory Neuropathy
|
Hsan Type Ii
|
Morvan Syndrome
|
Neuropathy, Hereditary Sensory And Autonomic, Type 2a
|
Morvan'S Disease
|
Neuropathy, Hereditary Sensory, Type Iia
|
Acroosteolysis, Neurogenic
|
Acroosteolysis, Giaccai Type
|
Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive
|
Hereditary Sensory Autonomic Neuropathy Type 2
|
Giaccai Type Acroosteolysis
|
Hereditary Sensory Neuropathy Type 2
|
Hereditary Sensory Radicular Neuropathy, Recessive Form
|
Hsan2b
|
Hsan2c
|
Hsan2d
|
Hsn Type Ii
|
Autosomal Recessive Sensory Radicular Neuropathy
|
Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome
|
Morvan Fibrillary Chorea
|
Neuropathy, Hereditary Sensory And Autonomic, 2a
|
Acroosteolysis Giaccai Type
|
Hereditary Sensory Neuropathy Type Iia
|
Hereditary Sensory Radicular Neuropathy Autosomal Recessive
|
Progressive Sensory Neuropathy Of Children
|
Neuropathy Congenital Sensory
|
Charcot-Marie-Tooth Disease
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Iia
|
Hereditary Sensory Autonomic Neuropathy, Type 2
|
Hereditary Motor And Sensory-Neuropathy Type Ii
|
Sensory Neuropathy, Hereditary
|
Neuropathy, Hereditary Sensory And Autonomic, Type Iib
|
|
|
Peho Syndrome |
Progressive Encephalopathy With Edema, Hypsarrhythmia, And Optic Atrophy
|
Infantile Cerebellooptic Atrophy
|
PEHO
|
Progressive Encephalopathy With Edema, Hypsarrhythmia And Optic Atrophy
|
Progressive Encephalopathy-Optic Atrophy Syndrome
|
|
|
Syndromic Intellectual Disability |
|
|
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
|
|
|
Autosomal Dominant Non-Syndromic Intellectual Disability |
|
|
Kif1a-Associated Neurological Disorder |
|
|
Paraplegia |
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
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
|
|
|
Neuropathy |
Peripheral Neuropathy
|
Peripheral Neuropathies
|
|
|
Spastic Ataxia |
|
|
Hereditary Sensory Neuropathy |
Hereditary Sensory And Autonomic Neuropathy
|
Hereditary Sensory And Autonomic Neuropathies
|
Familial Dysautonomia, Type Ii
|
Hsan
|
Sensory Neuropathy Hereditary
|
Neuropathy, Sensory And Autonomic, Hereditary
|
Neuropathy, Sensory, Hereditary
|
Sensory Neuropathy, Hereditary
|
Charcot-Marie-Tooth Disease
|
Cmt - [Charcot-Marie-Tooth Disease]
|
|
|
Spasticity |
|
|
Hypomagnesemia 6, Renal |
Renal Hypomagnesemia 6
|
HOMG6
|
Renal Hypomagnesemia-6
|
Hypomagnesemia 6
|
Hypomagnesemia, Type 6, Renal
|
|
|
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
|
|
|
Spastic Paraplegia 81, Autosomal Recessive |
SPG81
|
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
|
Autosomal Recessive Complex Spg Due To Kennedy Pathway Dysfunction
|
Hereditary Spastic Paraplegia 81
|
Spastic Paraplegia 81 Autosomal Recessive
|
Doid:0112349
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Viii |
HSAN8
|
Hsan Viii
|
Hereditary Sensory And Autonomic Neuropathy Type 8
|
Hereditary Sensory And Autonomic Neuropathy Type Viii
|
Neuropathy, Hereditary Sensory And Autonomic, 8
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Viii
|
|
|
Goldberg-Shprintzen Syndrome |
Goldberg-Shprintzen Megacolon Syndrome
|
GOSHS
|
Megacolon-Microcephaly Syndrome
|
|
|
Spastic Ataxia 2 |
|
|
Chromosome 2q37 Deletion Syndrome |
Albright Hereditary Osteodystrophy-Like Syndrome
|
2q37 Microdeletion Syndrome
|
Brachydactyly-Intellectual Disability Syndrome
|
Deletion 2q37
|
2q37 Deletion Syndrome
|
Brachydactyly-Mental Retardation Syndrome
|
Bdmr
|
Albright Hereditary Osteodystrophy Type 3
|
Del(2)(Q37)
|
Monosomy 2q37qter
|
Albright'S Hereditary Osteodystrophy-Like Syndrome
|
Monosomy 2q37
|
Chromosome Deletion Syndrome 2q37
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
Hereditary Sensory And Autonomic Neuropathy Type 7
|
HSAN7
|
Hereditary Sensory And Autonomic Neuropathy Type Vii
|
Hsan Vii
|
Cip With Hyperhidrosis And Gastrointestinal Dysfunction
|
Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction
|
Hsan With Hyperhidrosis And Gastrointestinal Dysfunction
|
Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction
|
Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis
|
Neuropathy, Hereditary Sensory And Autonomic, 7
|
Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Vii
|
|
|
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 |
CMT2A1
|
Charcot-Marie-Tooth Disease Type 2a1
|
Hereditary Motor And Sensory Neuropathy Iia1
|
Hmsn Iia1
|
Hmsn2a1
|
Charcot-Marie-Tooth Disease, Type 2a1
|
Charcot-Marie-Tooth Disease Neuronal Type 2a1
|
Charcot-Marie-Tooth Neuropathy Type 2a1
|
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1
|
Charcot-Marie-Tooth Disease, Neuronal, Type 2a1
|
Charcot-Marie-Tooth Neuropathy, Type 2a1
|
Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1
|
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1
|
Charcot-Marie-Tooth Disease 2a1
|
Charcot-Marie-Tooth Disease Axonal Type 2a1
|
|
|
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
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type V |
HSAN5
|
Hereditary Sensory And Autonomic Neuropathy Type V
|
Hsan V
|
Hereditary Sensory And Autonomic Neuropathy Type 5
|
Congenital Insensitivity To Pain
|
Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers
|
Hsan Type V
|
Insensitivity To Pain, Congenital
|
Hereditary Sensory And Autonomic Neuropathy, Type 5
|
Congenital Insensitivity To Pain And Thermal Analgesia
|
Neuropathy, Hereditary Sensory And Autonomic, 5
|
Hereditary Sensory Neuropathy Type V
|
Hsn V
|
Pain Insensitivity, Congenital
|
Neuropathy, Sensory And Autonomic, Hereditary, Type V
|
Hereditary Sensory Autonomic Neuropathy, Type 5
|
Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]
|
|
|
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
Hereditary Sensory And Autonomic Neuropathy Type 6
|
HSAN6
|
Hsan Vi
|
Hereditary Sensory And Autonomic Neuropathy Type Vi
|
Familial Dysautonomia With Contractures
|
Neuropathy, Hereditary Sensory And Autonomic, 6
|
Hereditary Sensory Neuropathy Type Vi
|
Hsn Vi
|
Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
|
|
|
Spastic Paraplegia 75, Autosomal Recessive |
SPG75
|
Hereditary Spastic Paraplegia 75
|
Autosomal Recessive Spastic Paraplegia Type 75
|
Autosomal Recessive Spastic Paraplegia 75
|
|
|
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
|
|
|
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
Lymphedema, Microcephaly And Chorioretinopathy Syndrome
|
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Intellectual Disability
|
MCLMR
|
Microcephaly, Lymphedema, Chorioretinal Dysplasia Syndrome
|
Mlcrd Syndrome
|
Cdmmr Syndrome
|
Lymphedema And Retinal Folds With Microcephaly And Microphthalmos
|
Chorioretinal Dysplasia-Microcephaly-Mental Retardation Syndrome
|
Microcephaly Lymphedema Chorioretinal Dysplasia
|
Microcephaly And Chorioretinopathy With Or Without Mental Retardation, Autosomal Dominant
|
Lymphedema, Microcephaly, Chorioretinopathy Syndrome
|
Lymphedema And Retinal Folds With Ficrocephaly And Microphthalmos
|
Chorioretinal Dysplasia-Microcephaly-Intellectual Disability Syndrome
|
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
|
Mlcrd
|
Lymphedema Microcephaly Chorioretinopathy Syndrome
|
Microcephaly Lymphedema Chorioretinal Dysplasia Syndrome
|
Microcephaly With Or Without Chorioretinopathy, Lymphedema Or Intellectual Disability
|
Microcephaly With/Without Chorioretinopathy, Lymphedema, Or Mental Retardation
|
|
|
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
|
|
|
Valproate Embryopathy |
Fetal Valproate Syndrome
|
Fetal Valproic Acid Syndrome
|
Fvs
|
Valproic Acid Embryopathy
|
Fetal Valproate Spectrum Disorder
|
Valproate Embryopathy, Susceptibility To
|
Foetal Valproate Syndrome
|
Foetal Valproic Acid Syndrome
|
Susceptibility To Valproate Embryopathy
|
Valproic Acid Antenatal Infection
|
|
|
Congenital Fibrosis Of The Extraocular Muscles |
Congenital Fibrosis Of Extraocular Muscles
|
Cfeom
|
Feom
|
Congenital External Ophthalmoplegia
|
Congenital Fibrosis Syndrome
|
General Fibrosis Syndrome
|
|
|
Autosomal Dominant Intellectual Developmental Disorder |
Autosomal Dominant Mental Retardation
|
Autosomal Dominant Non-Syndromic Mental Retardation
|
Autosomal Dominant Non-Syndromic Intellectual Disability
|
Mental Retardation, Autosomal Dominant
|
|
|
Spastic Diplegia |
Diplegic Infantile Cerebral Palsy
|
Little'S Disease
|
Cerebral Palsy
|
Cerebral Spastic Infantile Paralysis
|
Infantile Diplegic Cerebral Palsy
|
Infantile Spastic Cerebral Palsy
|
Littles Disease
|
Spastic Cerebral Palsy
|
|
|
Dystonia |
Dystonic Disease
|
Dystonic Disorder
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
Autism Spectrum Disorder |
Asd
|
Autism Spectrum Disorders
|
Autistic Continuum
|
Pervasive Developmental Disorder
|
Pervasive Development Disorder
|
Autistic Behavior
|
Autistic Disorder
|
Autistic
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Childhood Autism
|
Kanner Syndrome
|
Pervasive Developmental Delay Nos
|
Pervasive Developmental Disorder, Not Otherwise Specified
|
|
|
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
|
|
|
Autism |
Autistic Disorder
|
Autism Susceptibility 1
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
Infantile Autism
|
Kanner'S Syndrome
|
Autistic
|
|
|
Joubert Syndrome 1 |
Joubert Syndrome
|
Jbts
|
Cerebellooculorenal Syndrome 1
|
JBTS1
|
Joubert-Boltshauser Syndrome
|
Cerebelloparenchymal Disorder Iv
|
Cpd4
|
Cors1
|
Joubert Syndrome And Related Disorders
|
Jsrd
|
Familial Aplasia Of The Vermis
|
Joubert Syndrome Related Disorders
|
Js
|
Cerebellar Vermis Agenesis
|
Cerebelloparenchymal Disorder 4
|
Agenesis Of Cerebellar Vermis
|
Cerebello-Oculo-Renal Syndrome
|
Cors
|
Joubert-Bolthauser Syndrome
|
Cpd Iv
|
Classic Joubert Syndrome
|
Joubert Syndrome Type A
|
Pure Joubert Syndrome
|
Cerebello-Oculo-Renal Syndrome 1
|
Joubert Syndrome-1
|
Joubert Syndrome, Type 1
|
Joubert'S Syndrome
|
|
|
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
|
|
|
Neuromuscular Disease |
Neuromuscular Diseases
|
Neuromuscular Disorders
|
Neuromuscular Disorder
|
|
|
Congenital Nervous System Abnormality |
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
Peripheral Nervous System Disease |
Peripheral Neuropathy
|
Peripheral Nerve Disease
|
Peripheral Nerve Disorders
|
Neuropathy, Peripheral
|
Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
|
|
|