| Diseases |
Alias |
|
| Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance |
|
Sesame Syndrome
|
East Syndrome
|
|
SESAMES
|
Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy
|
|
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance
|
Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome
|
|
Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
|
Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy
|
|
Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance
|
Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome
|
|
Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome
|
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance
|
|
Epilepsy Ataxia Sensorineural Deafness And Tubulopathy
|
Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
|
|
|
| Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged Vestibular Aqueduct
|
DFNB4
|
|
Neurosensory Nonsyndromic Recessive Deafness 4
|
Enlarged Vestibular Aqueduct Syndrome
|
|
Nsrd4
|
Autosomal Recessive Nonsyndromic Deafness 4
|
|
Dilated Vestibular Aqueduct
|
Dva
|
|
Enlarged Vestibular Aqueduct, Digenic
|
Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct
|
|
Large Vestibular Aqueduct Syndrome
|
Deafness, Autosomal Recessive, 4
|
|
Deafness Neurosensory Autosomal Recessive 4
|
Eva
|
|
Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4
|
Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4
|
|
Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
|
|
|
| Pendred Syndrome |
|
Goiter-Deafness Syndrome
|
Deafness With Goiter
|
|
PDS
|
Thyroid Dyshormonogenesis 2b
|
|
Tdh2b
|
Autosomal Recessive Sensorineural Hearing Impairment And Goiter
|
|
Pendred'S Syndrome
|
Thyroid Hormonogenesis, Genetic Defect In, 2b
|
|
Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b
|
Congenital Hypothyroidism Due To Dyshormonogenesis 2b
|
|
Genetic Defect In Thyroid Hormonogenesis 2b
|
Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter
|
|
Goiter-Hearing Loss Syndrome
|
Goitre-Deafness Syndrome
|
|
Goitre Deafness
|
|
|
| Rare Renal Tubular Disease |
|
|
| 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
|
|
|
| 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
|
|
|
| Microcephaly |
|
Microencephaly
|
Microcephalus
|
|
Microcephalic
|
Nanocephaly
|
|
Congenital Microcephaly
|
Brain Hypoplasia
|
|
Brain Nondevelopment
|
Cephalic Hypoplasia
|
|
Undeveloped Cerebrum
|
Undeveloped Brain
|
|
Micrencephalon
|
Micrencephaly
|
|
|
| Nervous System Disease |
|
Abnormality Of The Nervous System
|
Nervous System Diseases
|
|
Nervous System Disorder
|
|
|
| Congenital Nervous System Abnormality |
|
Congenital Neurologic Anomaly
|
Congenital Nervous System Disorder
|
|
|
| Sensorineural Hearing Loss |
|
Sensory Hearing Loss
|
Sensorineural Deafness
|
|
Sensorineural Hearing Loss Disorder
|
Hearing Loss, Sensorineural
|
|
Central Hearing Loss
|
High Frequency Deafness
|
|
High Frequency Hearing Loss
|
High-Frequency Hearing Loss
|
|
Perceptive Deafness
|
Perceptive Hearing Loss
|
|
Perceptive Hearing Loss Or Deafness
|
Hearing Loss Sensorineural
|
|
Deafness Sensorineural
|
Hearing Loss High-Frequency
|
|
Hearing Loss, Central
|
Hearing Loss, High-Frequency
|
|
|
| Developmental And Epileptic Encephalopathy 35 |
|
DEE35
|
Epileptic Encephalopathy, Early Infantile, 35
|
|
Eiee35
|
Developmental And Epileptic Encephalopathy, 35
|
|
Early Infantile Epileptic Encephalopathy 35
|
Itpa-Related Encephalopathy
|
|
Itpa-Related Lethal Infantile Neurological Disorder With Cataract And Cardiac Involvement
|
Martsolf-Like Syndrome
|
|
|
| Hypokalemia |
|
Potassium Deficiency
|
Potassium Deficiency Disorder
|
|
Hypopotassemia
|
Potassium
|
|
Potassium [K] Deficiency
|
Hypokalaemic Syndrome
|
|
Hypopotassaemia
|
Hypopotassaemia Syndrome
|
|
Hypokalaemic
|
Potassium Depletion
|
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts |
|
Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
|
Mlc
|
|
Van Der Knaap Disease
|
Lvm
|
|
Leukoencephalopathy With Swelling And Cysts
|
Megalencephaly-Cystic Leukodystrophy
|
|
Megalencephalic Leukodystrophy Megalencephaly-Cystic Leukodystorphy Syndrome
|
Infantile Leukoencephalopathy And Megalencephaly
|
|
Leukoencephalopathy With Swelling And A Discrepantly Mild Course
|
Vacuolating Leukoencephalopathy
|
|
Megalencephalic Leukodystrophy
|
Megalencephaly-Cystic Leukodystrophy Syndrome
|
|
Van Der Knaap Syndrome
|
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts
|
|
|
| Epilepsy |
|
Epilepsy Syndrome
|
Epileptic Syndrome
|
|
Epilepsies
|
Symptomatic Epilepsies
|
|
Post Traumatic Epilepsy
|
Traumatic Epilepsy
|
|
Traumatic Epileptic
|
Epilepsy Due To Hippocampal Sclerosis
|
|
Epilepsy With Ammon'S Horn Sclerosis
|
Epilepsy Due To Cortical Dysplasia
|
|
Epilepsy Due To Neuronal Migration Disorders
|
|
|
| Temporal Lobe Epilepsy |
|
Epilepsy, Temporal Lobe
|
Epilepsy Temporal Lobe
|
|
|
| Vestibular Disease |
|
Vestibular Diseases
|
Vertigo, Vestibular Disorder
|
|
Vestibular Disorder
|
Diseases Of Inner Ear
|
|
|
| Vitreoretinal Degeneration, Snowflake Type |
|
Snowflake Vitreoretinal Degeneration
|
SVD
|
|
Snowflake Degeneration In Hereditary Vitreoretinal Degeneration
|
|
|
| Bartter Disease |
|
Bartter Syndrome
|
Bartter'S Syndrome
|
|
Aldosteronism With Hyperplasia Of The Adrenal Cortex
|
Hypokalemic Alkalosis With Hypercalciuria
|
|
Potassium Wasting
|
Juxtaglomerular Hyperplasia With Secondary Aldosteronism
|
|
Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria
|
Salt-Losing Tubular Disorder, Henle'S Loop Type
|
|
Salt-Wasting Tubulopathy, Henle'S Loop Type
|
Bartters Syndrome
|
|
|
| Gitelman Syndrome |
|
Familial Hypokalemia-Hypomagnesemia
|
Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria
|
|
Potassium And Magnesium Depletion
|
GTLMNS
|
|
Gitelman'S Syndrome
|
Gs
|
|
Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria
|
Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria
|
|
Bartter Syndrome Gitelman Variant
|
Bartter Syndrome Hypocalciuric Variant
|
|
Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
|
|
|
| Deafness, Autosomal Dominant 7 |
|
DFNA7
|
Autosomal Dominant Nonsyndromic Deafness 7
|
|
Autosomal Dominant Deafness 7
|
Deafness, Autosomal Dominant, 7
|
|
Deafness, Autosomal Dominant, Type 7
|
|
|
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 1 |
|
Van Der Knaap Disease
|
Leukoencephalopathy With Swelling And Cysts
|
|
MLC1
|
Vacuolating Megalencephalic Leukoencephalopathy With Subcortical Cysts
|
|
Lvm
|
Vl
|
|
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, 1
|
Leukoencephalopathy, Megalencephalic, With Subcortical Cysts, Type 1
|
|
Megalencephalic Leukoencephalopathy With Subcortical Cysts
|
|
|
| Hypomagnesemia 1, Intestinal |
|
Intestinal Hypomagnesemia 1
|
HOMG1
|
|
Hypomagnesemia With Secondary Hypocalcemia
|
Hsh
|
|
Hypomagnesemic Tetany
|
Intestinal Hypomagnesemia With Secondary Hypocalcemia
|
|
Homg
|
Hypomagnesemia Caused By Selective Magnesium Malabsorption
|
|
Hypomagnesemia Intestinal Type 1
|
Primary Hypomagnesemia With Secondary Hypocalcemia
|
|
Phsh
|
Hypomagnesemia, Intestinal, With Secondary Hypocalcemia
|
|
Familial Primary Hypomagnesemia With Hypocalcuria
|
Hypomagnesemia 1
|
|
Hypomagnesmic Tetany
|
|
|
| Rett Syndrome |
|
Atypical Rett Syndrome
|
RTT
|
|
Rett Disorder
|
Rts
|
|
Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
|
Rett Syndrome, Preserved Speech Variant
|
|
Rett Syndrome, Atypical
|
Rett'S Disorder
|
|
Rett Syndrome Variant
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
|
|
Cerebroatrophic Hyperammonemia
|
Rett Like Syndrome
|
|
Rett'S Syndrome
|
Atypical Rtt
|
|
Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
|
Rett Syndrome Preserved Speech Variant
|
|
Rett Syndrome Zappella Variant
|
Rett Syndrome, Zappella Variant
|
|
|
| Auditory System Disease |
|
Ear Diseases
|
Ear And Mastoid Disease
|
|
|
| Alexander Disease |
|
Alexander'S Disease
|
ALXDRD
|
|
Alexanders Leukodystrophy
|
Axd
|
|
Demyelinogenic Leukodystrophy
|
Megalencephaly In Infancy Accompanied By Progressive Spasticity And Dementia
|
|
Alx
|
Dysmyelinogenic Leukodystrophy
|
|
Fibrinoid Degeneration Of Astrocytes
|
Leukodystrophy With Rosenthal Fibers
|
|
Alexander Disease Type Ii
|
Axd Type Ii
|
|
Alexander Disease Type I
|
Axd Type I
|
|
Alexanders Disease
|
Alexander'S Leukodystrophy
|
|
|
| Inner Ear Disease |
|
Labyrinthine Dysfunction
|
Diseases Of Inner Ear
|
|
Labyrinthine Disease
|
Abnormality Of The Inner Ear
|
|
Labyrinth Diseases
|
Labyrinthine Disorder
|
|
Nonfunctioning Labyrinth
|
Labyrinthine Loss Of Function
|
|
Labyrinthine Syndrome
|
Labyrinthine Disorder Nos
|
|
|
| Deafness, X-Linked 2 |
|
Progressive Deafness With Stapes Fixation
|
DFNX2
|
|
Dfn3
|
Nance Deafness
|
|
Perilymphatic Gusher-Deafness Syndrome
|
Stapedo-Vestibular Ankylosis
|
|
Sensorineural Deafness, Profound, With Or Without A Conductive Component, Associated With A Unique Developmental Abnormality Of The Ear
|
X-Linked Deafness 2
|
|
X-Linked Mixed Conductive And Neurosensory Deafness
|
X-Linked Mixed Conductive And Sensorineural Deafness
|
|
Deafness 3 Conductive With Stapes Fixation
|
Deafness Conductive With Stapes Fixation
|
|
Deafness Mixed With Perilymphatic Gusher
|
Thies-Reis Syndrome
|
|
Deafness, Conductive, With Stapes Fixation
|
Deafness 3, Conductive, With Stapes Fixation
|
|
Deafness, Mixed, With Perilymphatic Gusher
|
Conductive Deafness 3 With Stapes Fixation
|
|
Conductive Deafness With Stapes Fixation
|
Mixed Deafness With Perilymphatic Gusher
|
|
X-Linked Deafness Type 2
|
X-Linked Mixed Conductive And Neurosensory Hearing Loss
|
|
X-Linked Mixed Conductive And Sensorineural Hearing Loss
|
X-Linked Sensorineural Deafness
|
|
X-Linked Stapes Gusher Syndrome
|
Deafness Mixed With Perilymphatic Gusher, X-Linked
|
|
Dfn 3 Nonsyndromic Hearing Loss And Deafness
|
Gusher Syndrome
|
|
Thies Reis Syndrome
|
Progressive Hearing Loss With Stapes Fixation
|
|
Deafness, X-Linked, 2
|
Deafness Mixed With Perilymph Gusher X-Linked
|
|
Deafness, X-Linked, Type 2
|
Progressive Hearing Loss Stapes Fixation
|
|
|
| Autoimmune Disease Of Peripheral Nervous System |
|
|
| Peripheral Vertigo |
|
|
| Renal Tubular Transport Disease |
|
Renal Tubular Transport, Inborn Errors
|
Inborn Renal Tubular Transport Disorder
|
|
|
| Retinal Degeneration |
|
|
| Jervell And Lange-Nielsen Syndrome 1 |
|
Jervell And Lange-Nielsen Syndrome
|
Jervell-Lange Nielsen Syndrome
|
|
Prolonged Qt Interval In Ekg And Sudden Death
|
Cardioauditory Syndrome Of Jervell And Lange-Nielsen
|
|
Surdo-Cardiac Syndrome
|
JLNS1
|
|
Deafness, Congenital, And Functional Heart Disease
|
Jlns
|
|
Long Qt Interval-Deafness Syndrome
|
Jervell And Lange-Nielson Syndrome
|
|
Jervell Lange-Nielsen Syndrome
|
Autosomal Recessive Long Qt Syndrome
|
|
Cardio-Auditory-Syncope Syndrome
|
Long Qt Interval-Hearing Loss Syndrome
|
|
Congenital Deafness And Functional Heart Disease
|
Long Qt Interval-Deafness
|
|
|
| Epilepsy, Idiopathic Generalized |
|
Idiopathic Generalized Epilepsy
|
Generalised Epilepsy
|
|
Epilepsy, Generalized
|
EIG
|
|
Ige
|
Epilepsy, Idiopathic Generalized, Susceptibility To, 1
|
|
Epilepsy, Idiopathic Generalized 1
|
Epilepsy, Idiopathic Generalized, Susceptibility To
|
|
Epilepsy, Idiopathic, Generalized
|
Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1
|
|
|
| Autism |
|
Autistic Disorder
|
Autism Susceptibility 1
|
|
Childhood Autism
|
Autistic Disorder Of Childhood Onset
|
|
Infantile Autism
|
Kanner'S Syndrome
|
|
Autistic
|
|
|
| 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
|
|
|
| Epilepsy, Myoclonic Juvenile |
|
Juvenile Myoclonic Epilepsy
|
Janz Syndrome
|
|
Jme
|
Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
|
|
EJM
|
Myoclonic Epilepsy, Juvenile
|
|
Petit Mal, Impulsive
|
Myoclonic Epilepsy, Juvenile 1
|
|
Myoclonic Epilepsy, Juvenile, 1
|
Adolescent Myoclonic Epilepsy
|
|
Juvenile Myoclonus Epilepsy
|
Juvenile Myoclonic Epilepsy 1
|
|
EJM1
|
Petit Mal Impulsive
|
|
Susceptibility To Juvenile Myoclonic Epilepsy 1
|
Myoclonic Epilepsy Juvenile
|
|
Epilepsy, Myoclonic, Juvenile
|
Myoclonic Epilepsy Of Janz
|
|
Jme - [Juvenile Myoclonic Epilepsy]
|
|
|
| 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
|
|
|
| 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
|
|
|
