| Diseases |
Alias |
|
| 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
|
|
|
| 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
|
|
|
| Chromosome 15q11.2 Deletion Syndrome |
|
15q11.2 Microdeletion Syndrome
|
15q11.2 Bp1-Bp2 Microdeletion Syndrome
|
|
Del(15)(Q11.2)
|
Monosomy 15q11.2
|
|
15q11.2 Microdeletion
|
Chromosome 15q11.2 Deletion
|
|
Chromosome 15q11.2 Microdeletion
|
Chromosome Deletion Syndrome 15q11.2
|
|
Microdeletion 15q11.2
|
Duplication 15q11-Q13 Syndrome
|
|
|
| Paraplegia |
|
Paraplegia, Lower
|
Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
|
|
|
| Angelman Syndrome |
|
AS
|
Happy Puppet Syndrome
|
|
Happy Puppet Syndrome, Formerly
|
Puppetlike Syndrome
|
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic Lateral Sclerosis
|
ALS
|
|
Lou Gehrig Disease
|
Amyotrophic Lateral Sclerosis Type 1
|
|
Charcot Disease
|
ALS1
|
|
Amyotrophic Lateral Sclerosis, Susceptibility To
|
Fals
|
|
Lou Gehrig'S Disease
|
Mnd
|
|
Motor Neuron Disease
|
Familial Amyotrophic Lateral Sclerosis
|
|
Amyotrophic Lateral Sclerosis 1, Familial
|
Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
|
|
Motor Neuron Disease, Bulbar
|
Motor Neurone Disease
|
|
Amyotrophic Lateral Sclerosis With Dementia
|
Dementia With Amyotrophic Lateral Sclerosis
|
|
Motor Neuron Disease, Amyotrophic Lateral Sclerosis
|
Sclerosis, Lateral, Amyotrophic
|
|
Sclerosis, Lateral, Amyotrophic, Type 1
|
Amyotrophic Sclerosis
|
|
Als - [Amyotrophic Lateral Sclerosis]
|
Wasting Palsy
|
|
Amyotrophic Paralysis
|
Amyotrophy Lateral Sclerosis
|
|
Wasting Paralysis
|
Spinal Progressive Amyotrophy
|
|
Progressive Atrophic Paralysis
|
|
|
| Cataract 25 |
|
Cataract, Central Saccular, With Sutural Opacities
|
CTRCT25
|
|
Ccsso
|
Cataract, Central Pouch-Like, With Sutural Opacities
|
|
Central Pouch-Like Cataract With Sutural Opacities
|
Central Saccular Cataract With Sutural Opacities
|
|
Early-Onset Cataract With Y-Shaped Suture Opacities
|
|
|
| Dyscalculia |
|
Disorder Of Arithmetical Skills
|
Mathematics Disorder
|
|
Developmental Arithmetic Disorder
|
|
|
| Prader-Willi Syndrome |
|
Prader-Labhart-Willi Syndrome
|
PWS
|
|
Willi-Prader Syndrome
|
Prader-Willi Syndrome Due To Translocation
|
|
Prader-Willi Syndrome Due To Imprinting Mutation
|
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
|
|
Prader Willi Syndrome
|
Upd(15)Mat
|
|
|
| Autosomal Recessive Congenital Ichthyosis |
|
Lamellar Ichthyosis
|
Congenital Ichthyosiform Erythroderma
|
|
Li
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
|
Arci
|
Congenital Lamellar Ichthyosis
|
|
Nonbullous Congenital Ichthyosiform Erythroderma
|
Cie
|
|
Congenital Non-Bullous Ichthyosiform Erythroderma
|
Erythrodermic Ichthyosis
|
|
Nbcie
|
Ncie
|
|
Non-Bullous Congenital Ichthyosiform Erythroderma
|
Collodion Baby
|
|
Ichthyosis, Lamellar
|
Non Bullous Congenital Ichthyosiform Erythroderma
|
|
Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form
|
Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
|
|
Collodion Baby Syndrome
|
Ichthyoses, Lamellar
|
|
Nbie
|
Nonbullous Ichthyosiform Erythroderma
|
|
Classic Lamellar Ichthyosis
|
Ichthyosiform Erythroderma Nonbullous Congenital
|
|
Ichthyosiform Erythroderma Congenital
|
Ichthyosis, Congenital, Autosomal Recessive
|
|
Ichthyosiform Erythroderma, Congenital
|
Collodion Fetus
|
|
Non-Bullous Ichthyosiform Erythroderma
|
|
|
| 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 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
|
|
|
| Microcephaly 1, Primary, Autosomal Recessive |
|
MCPH1
|
Premature Chromosome Condensation Syndrome
|
|
Pcc Syndrome
|
Primary Autosomal Recessive Microcephaly 1
|
|
Microcephaly, Primary Autosomal Recessive, 1
|
Premature Chromosome Condensation With Microcephaly And Mental Retardation
|
|
Microcephaly Vera
|
True Microcephaly
|
|
Microcephaly, Type 1, Primary, Autosomal Recessive
|
Autosomal Recessive Primary Microcephaly
|
|
|
| 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 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 9a, Autosomal Dominant |
|
Hereditary Spastic Paraplegia 9a
|
SPG9A
|
|
Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities
|
Ad-Spg9a
|
|
Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome
|
Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux
|
|
Autosomal Dominant Complex Spastic Paraplegia Type 9a
|
Autosomal Dominant Spastic Paraplegia 9a
|
|
Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities
|
|
Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux
|
Autosomal Dominant Spastic Paraplegia Type 9a
|
|
Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome
|
Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux
|
|
Spastic Paraplegia 9, Autosomal Dominant
|
|
|
| Hereditary Spastic Paraplegia 30 |
|
Autosomal Spastic Paraplegia Type 30
|
Spg30
|
|
Autosomal Recessive Spastic Paraplegia 30
|
|
|
| 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 4, Autosomal Dominant |
|
SPG4
|
Hereditary Spastic Paraplegia 4
|
|
Fsp2
|
Autosomal Dominant Spastic Paraplegia Type 4
|
|
Familial Spastic Paraplegia, Autosomal Dominant, 2
|
Autosomal Dominant Spastic Paraplegia 4
|
|
Familial Spastic Paraplegia Autosomal Dominant 2
|
Paraplegia, Spastic, Autosomal Dominant, Type 4
|
|
|
| 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 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
|
|
|
| Chromosome 22q11.2 Duplication Syndrome |
|
Chromosome 22q11.2 Microduplication Syndrome
|
22q11.2 Microduplication Syndrome
|
|
22q11.2 Duplication Syndrome
|
Duplication 22q11.2
|
|
Trisomy 22q11.2
|
22q11.2 Duplication
|
|
Dup(22)(Q11)
|
|
|
| Ichthyosis |
|
Ichthyoses
|
Non-Syndromic Ichthyosis
|
|
Congenital Ichthyosis
|
|
|
| Friedreich Ataxia |
|
Friedreich Ataxia 1
|
FRDA
|
|
Friedreich Ataxia With Retained Reflexes
|
Frda1
|
|
Fa
|
Friedreich'S Ataxia
|
|
Hereditary Spinal Ataxia
|
Fa1
|
|
Friedreich'S Tabes
|
Hereditary Spinal Sclerosis
|
|
Spinocerebellar Ataxia, Friedreich
|
Friedreich Spinocerebellar Ataxia
|
|
Friedrich'S Ataxia
|
|
|
| Chromosome 15q13.3 Deletion Syndrome |
|
Chromosome 15q13.3 Microdeletion Syndrome
|
15q13.3 Microdeletion Syndrome
|
|
15q13.3 Microdeletion
|
Microdeletion 15q13.3 Syndrome
|
|
Del(15)(Q13.3)
|
Monosomy 15q13.3
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Attention Deficit-Hyperactivity Disorder |
|
Attention Deficit Hyperactivity Disorder
|
ADHD
|
|
Attention Deficit Disorder
|
Attention Deficit-Hyperactivity Disorder, Susceptibility To
|
|
Attention Deficit Disorder With Hyperactivity
|
Hyperkinetic Disorder
|
|
Hyperactivity Of Childhood
|
Attention-Deficit/Hyperactivity Disorder
|
|
Add
|
Addh
|
|
Attention Deficit
|
Attention Deficit Disorder Of Childhood With Hyperactivity
|
|
Attention Deficit Disorder With Hyperactivity Syndrome
|
Hyperkinetic Syndrome
|
|
Attention-Deficit Hyperactivity Disorder
|
Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type
|
|
Disturbance Of Activity And Attention
|
Disorder Of Activity And Attention
|
|
Adhd - [Attention Deficit Hyperactivity Disorder]
|
Hyperkinetic Disorders
|
|
Disorder Of Activity And Attention With Hyperkinesia
|
Attention Deficit Syndrome With Hyperactivity
|
|
|
| Spastic Ataxia |
|
|
