| Diseases |
Alias |
|
| 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
|
|
|
| Cerebral-Cerebellar-Coloboma Syndrome, X-Linked |
|
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
|
X-Linked Intellectual Disability, Kroes Type
|
|
X-Linked Cerebral-Cerebellar-Coloboma Syndrome Syndrome
|
|
|
| Basal Ganglia Calcification |
|
Fahr'S Syndrome
|
Fahr'S Disease
|
|
Fahr Disease
|
|
|
| Dystonia |
|
Dystonic Disease
|
Dystonic Disorder
|
|
Dystonia Disorders
|
Neuroleptic Dyskinesia
|
|
|
| West Syndrome |
|
Infantile Spasms
|
Infantile Spasms Syndrome
|
|
Infantile Spasm
|
X-Linked Infantile Spasm Syndrome
|
|
X-Linked Infantile Spasms
|
Epileptic Encephalopathy, Early Infantile, 1
|
|
Is
|
Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
|
|
West'S Syndrome
|
Spasms, Infantile
|
|
Is -[Infantile Spasm]
|
Salaam Spasm
|
|
Salaam Tic
|
|
|
| Albinism, Oculocutaneous, Type Vii |
|
OCA7
|
Oculocutaneous Albinism Type 7
|
|
Oculocutaneous Albinism Type Vii
|
Albinism, Oculocutaneous, 7
|
|
|
| Neurodegeneration With Brain Iron Accumulation |
|
Nbia
|
Neurodegeneration With Brain Iron Accumulation Disorders
|
|
Neurodegeneration, With Brain Iron Accumulation
|
|
|
| Neurodegeneration With Brain Iron Accumulation 4 |
|
NBIA4
|
Mpan
|
|
Mitochondrial Protein-Associated Neurodegeneration
|
Nbia Due To C19orf12 Mutation
|
|
Neurodegeneration With Brain Iron Accumulation Due To C19orf12 Mutation
|
Neurodegeneration With Brain Iron Accumulation Type 4
|
|
Mitochondrial Membrane Protein Associated Neurodegeneration
|
Neurodegeneration, With Brain Iron Accumulation, Type 4
|
|
|
| Alcohol-Related Neurodevelopmental Disorder |
|
Static Encephalopathy
|
Arnd
|
|
Encephalopathy, Static
|
Alcohol Related Neurodevelopmental Disorder
|
|
|
| Ischemic Fasciitis |
|
Atypical Decubital Fibroplasia
|
|
|
| Auditory Agnosia |
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| Vici Syndrome |
|
Absent Corpus Callosum Cataract Immunodeficiency
|
VICIS
|
|
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum
|
Dionisi Vici Sabetta Gambarara Syndrome
|
|
Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum
|
Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome
|
|
Dionisi-Vici-Sabetta-Gambarara Syndrome
|
Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
|
|
|
| Neurodegeneration With Brain Iron Accumulation 2a |
|
Infantile Neuroaxonal Dystrophy
|
Plan
|
|
Seitelberger Disease
|
Inad
|
|
Infantile Neuroaxonal Dystrophy 1
|
Inad1
|
|
Pla2g6-Associated Neurodegeneration
|
NBIA2A
|
|
Neuroaxonal Dystrophy, Infantile
|
Neurodegeneration, Pla2g6-Associated
|
|
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
|
Phospholipase A2-Associated Neurodegeneration
|
|
Nbia2
|
Pla2g6-Related Disorders
|
|
Infantile Neuroaxonal Dystrophy/Atypical Neuroaxonal Dystrophy
|
Karak Syndrome, Included
|
|
Nbia2b
|
Neuroaxonal Dystrophy, Atypical
|
|
Neurodegeneration With Brain Iron Accumulation 2b
|
Nbia, Pla2g6-Related
|
|
Seitelberger'S Disease
|
Neurodegeneration Pla2g6-Associated
|
|
Dystrophy, Neuroaxonal, Infantile
|
Neurodegeneration, With Brain Iron Accumulation, Type 2a
|
|
Neuroaxonal Dystrophies
|
Neurodegeneration With Brain Iron Accumulation 2
|
|
|
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Neuroferritinopathy
|
NBIA3
|
|
Ferritin-Related Neurodegeneration
|
Hereditary Ferritinopathy
|
|
Basal Ganglia Disease, Adult-Onset
|
Adult Basal Ganglia Disease
|
|
Neuroferritinopathy
|
Basal Ganglia Disease, Adult-Onset
|
|
Basal Ganglia Disease Adult-Onset
|
Adult-Onset Basal Ganglia Disease
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 3
|
|
|
| Hereditary Spastic Paraplegia 49 |
|
Autosomal Recessive Spastic Paraplegia Type 49
|
Autosomal Recessive Spastic Paraplegia 49
|
|
Spg49
|
Paraplegia, Spastic, Type 49, Autosomal Recessive
|
|
|
| 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
|
|
|
| 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
|
|
|
| Woodhouse-Sakati Syndrome |
|
Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome
|
Woodhouse Sakati Syndrome
|
|
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, And Extrapyramidal Syndrome
|
WDSKS
|
|
Extrapyramidal Disorder, Progressive, With Primary Hypogonadism, Mental Retardation, And Alopecia
|
Diabetes-Hypogonadism-Hearing Loss-Intellectual Disability Syndrome
|
|
Progressive Extrapyramidal Disorder With Primary Hypogonadism, Mental Retardation, Alopecia
|
Hypogonadism, Alopecia, Diabetes Mellitus, Intellectual Disability, Extrapyramidal Syndrome
|
|
Neuroectodermal Endocrine Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, And Electrocardiographic Abnormalities
|
|
Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, And Extrapyramidal Syndrome
|
Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation And Electrocardiographic Abnormalities
|
|
Wss
|
|
|
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Pantothenate Kinase-Associated Neurodegeneration
|
Pkan
|
|
NBIA1
|
Hallervorden-Spatz Disease
|
|
Hallervorden-Spatz Syndrome
|
Pigmentary Pallidal Degeneration
|
|
Neuroaxonal Dystrophy, Late Infantile
|
Neurodegeneration With Brain Iron Accumulation Type 1
|
|
Classic Pantothenate Kinase-Associated Neurodegeneration
|
Pkan Neuroaxonal Dystrophy, Juvenile-Onset
|
|
Brain Iron Accumulation Type I Syndrome
|
Nbia
|
|
Neurodegeneration With Brain Iron Accumulation
|
Nbia1, Classic Form
|
|
Neurodegeneration With Brain Iron Accumulation Type 1, Classic Form
|
Pkan, Classic Form
|
|
Atypical Pantothenate Kinase-Associated Neurodegeneration
|
Nbia1, Atypical Form
|
|
Neurodegeneration With Brain Iron Accumulation Type 1, Atypical Form
|
Pkan, Atypical Form
|
|
Hss
|
Pkan Neuroaxonal Dystrophy Juvenile-Onset
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 1
|
|
|
| Parkinsonism |
|
Parkinsonism-Plus
|
Idiopathic Parkinsonism
|
|
Primary Parkinsonism
|
Paralysis Agitans Syndrome
|
|
Parkinsonian Syndrome
|
Trembling Paralysis
|
|
Paralysis Agitans
|
Shaking Palsy
|
|
Shaking Paralysis
|
|
|
| Kufor-Rakeb Syndrome |
|
Park9
|
Krppd
|
|
KRS
|
Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis And Dementia
|
|
Autosomal Recessive Parkinson Disease 9
|
Parkinson Disease 9
|
|
Parkinson Disease 9, Autosomal Recessive, Juvenile-Onset
|
Autosomal Recessive Juvenile Onset Parkinson Disease 9
|
|
Parkinson Disease Type 9
|
Pallidopyramidal Degeneration With Supranuclear Upgaze Paresis, And Dementia
|
|
Park 9
|
Atp13a2-Related Juvenile Neuronal Ceroid Lipofuscinosis
|
|
Cln12 Disease
|
Juvenile Parkinsonism-Neuronal Ceroid Lipofuscinosis
|
|
Parkinson Disease Autosomal Recessive 9
|
|
|
| Neuroaxonal Dystrophy |
|
|
| Neurodegeneration With Brain Iron Accumulation 2b |
|
NBIA2B
|
Neurodegeneration With Brain Iron Accumulation, Pla2g6-Related
|
|
Neuroaxonal Dystrophy, Atypical
|
Karak Syndrome
|
|
Atypical Neuroaxonal Dystrophy
|
Neurodegeneration With Brain Iron Accumulation Pla2g6-Related
|
|
Neurodegeneration, With Brain Iron Accumulation, Type 2b
|
Neurodegeneration With Brain Iron Accumulation 2
|
|
|
| Bruxism |
|
Sleep Bruxism
|
Sleep-Related Bruxism
|
|
Bruxism - Teeth Grinding
|
Grinding Teeth
|
|
Sleep Related Bruxism
|
Teeth Grinding
|
|
Sleep Related Teeth Grinding
|
|
|
| Parkinsonism With Spasticity, X-Linked |
|
X-Linked Parkinsonism-Spasticity Syndrome
|
XPDS
|
|
X-Linked Parkinsonism With Spasticity
|
|
|
| Coffin-Siris Syndrome 1 |
|
Coffin-Siris Syndrome
|
Fifth Digit Syndrome
|
|
Css
|
CSS1
|
|
Mrd12
|
Mental Retardation, Autosomal Dominant 12
|
|
Hhid
|
Dwarfism-Onychodysplasia
|
|
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
|
Autosomal Dominant Mental Retardation 12
|
|
Short Stature-Onychodysplasia.
|
Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
|
|
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
|
Short Stature-Onychodysplasia
|
|
Coffin-Siris Syndrome, Type 1
|
Mental Retardation, Autosomal Dominant, Type 12
|
|
|
| Early-Onset Parkinson'S Disease |
|
Early-Onset Parkinson Disease
|
|
|
| Spastic Quadriplegia |
|
Spastic Quadriplegic Cerebral Palsy
|
Quadriplegic Infantile Cerebral Palsy
|
|
Tetraplegic Infantile Cerebral Palsy
|
Cerebral Palsy Spastic Quadriplegic
|
|
Quadriplegic Cerebral Palsy
|
Spastic Quadriplegia Cerebral Palsy
|
|
Spastic Tetraplegia Cerebral Palsy
|
Cerebral Palsy, Quadriplegic, Infantile
|
|
Cerebral Palsy With Spastic Tetraplegia
|
Congenital Spastic Quadriplegia
|
|
Spastic Tetraplegic Cerebral Palsy
|
Congenital Quadriplegia Nos
|
|
Tetraplegic Cerebral Palsy
|
|
|
| Schuurs-Hoeijmakers Syndrome |
|
SHMS
|
Pacs1-Related Syndrome
|
|
Mrd17
|
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
|
|
Intellectual Developmental Disorder, Autosomal Dominant 17
|
Autosomal Dominant Intellectual Disability-17
|
|
Autosomal Dominant Mental Retardation 17
|
Pacs1 Syndrome
|
|
Mental Retardation, Autosomal Dominant 17
|
|
|
| Spastic Cerebral Palsy |
|
Palsy, Cerebral, Spastic
|
Infantile Hemiplegia Nos
|
|
Postnatal Infantile Hemiplegia Nos
|
Congenital Spastic Hemiplegia
|
|
Spastic Hemiplegic Cerebral Palsy
|
Congenital Hemiplegia Nos
|
|
Hemiplegic Cerebral Palsy
|
Hemiplegic Infantile Cerebral Palsy
|
|
|
| Fetal Alcohol Spectrum Disorder |
|
Fetal Alcohol Spectrum Disorders
|
Fetal Alcohol Syndrome
|
|
|
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonian-Pyramidal Syndrome
|
Pallidopyramidal Syndrome
|
|
Parkinson Disease 15, Autosomal Recessive
|
PARK15
|
|
Pkps
|
Pallido-Pyramidal Syndrome
|
|
Parkinson'S Disease 15
|
Autosomal Recessive Early-Onset Parkinson Disease 15
|
|
Autosomal Recessive Early-Onset Parkinson'S Disease 15
|
Pallido-Pyramidal Disease
|
|
Parkinson Disease 15
|
Parkinson Disease 15 Autosomal Recessive
|
|
Pps
|
Parkinson Disease, Type 15
|
|
|
| Yunis-Varon Syndrome |
|
Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia
|
Yunis Varon Syndrome
|
|
YVS
|
Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
|
|
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia
|
Yunis-Varón Syndrome
|
|
|
| Spastic Paraplegia 50, Autosomal Recessive |
|
Hereditary Spastic Paraplegia 50
|
SPG50
|
|
Ap-4 Deficiency Syndrome
|
Ap-4-Associated Hereditary Spastic Paraplegia
|
|
Adaptor Protein Complex 4 Deficiency
|
Cerebral Palsy, Spastic Quadriplegic, 3, Formerly
|
|
Cpsq3, Formerly
|
Autosomal Recessive Spastic Paraplegia 50
|
|
Cpsq3
|
Spastic Quadriplegic Cerebral Palsy 3
|
|
Ap-4 Deficiency
|
Ap-4-Associated Hsp
|
|
Paraplegia, Spastic, Autosomal Recessive, Type 50
|
Spastic Paraplegia-50, Autosomal Recessive
|
|
|
| Aceruloplasminemia |
|
Cerebellar Ataxia
|
Hypoceruloplasminemia
|
|
Hemosiderosis, Systemic, Due To Aceruloplasminemia
|
Familial Apoceruloplasmin Deficiency
|
|
Hereditary Ceruloplasmin Deficiency
|
Deficiency Of Ferroxidase
|
|
Hypoceruloplasminemia, Hereditary
|
Ceruloplasmin Deficiency
|
|
Systemic Hemosiderosis Due To Aceruloplasminemia
|
ACERULOP
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Noonan Syndrome 1 |
|
Noonan Syndrome
|
NS1
|
|
Male Turner Syndrome
|
Female Pseudo-Turner Syndrome
|
|
Turner Phenotype With Normal Karyotype
|
Noonan Syndrome With Pigmented Villonodular Synovitis
|
|
Turner'S Phenotype, Karyotype Normal
|
Familial Turner Syndrome
|
|
Noonan'S Syndrome
|
Noonan-Ehmke Syndrome
|
|
Ns
|
Pseudo-Ullrich-Turner Syndrome
|
|
Turner Syndrome In Female With X Chromosome
|
Turner-Like Syndrome
|
|
Ullrich-Noonan Syndrome
|
Noonan-Like/Multiple Giant Cell Lesion Syndrome
|
|
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions
|
Pterygium Colli Syndrome
|
|
Noonan Syndrome, Type 1
|
Turner Syndrome, Male
|
|
|
| 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
|
|
|
| Galloway-Mowat Syndrome |
|
Galloway Mowat Syndrome
|
Galloway Syndrome
|
|
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type
|
Microcephaly Nephrosis Syndrome
|
|
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome
|
Nephrosis Neuronal Dysmigration Syndrome
|
|
Microcephaly-Hiatus Hernia-Nephrotic Syndrome
|
Nephrosis-Neuronal Dysmigration Syndrome
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
