| 疾病名称 |
别名 |
|
| 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
|
|
|
| Hereditary Episodic Ataxia |
|
|
| Infancy Electroclinical Syndrome |
|
|
| Paroxysmal Extreme Pain Disorder |
|
PEPD
|
Familial Rectal Pain
|
|
Pexpd
|
Submandibular, Ocular, And Rectal Pain With Flushing
|
|
Pain, Submandibular, Ocular, And Rectal, With Flushing
|
Rectal Pain, Familial
|
|
Submandibular, Ocular And Rectal Pain With Flushing
|
Familial Rectal Syndrome
|
|
Frp
|
Pain Disorder, Paroxysmal, Extreme
|
|
|
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral Perisylvian Polymicrogyria
|
Polymicrogyria, Bilateral Perisylvian
|
|
Pmgx
|
Perisylvian Syndrome, Congenital Bilateral
|
|
Cbps
|
Congenital Bilateral Perisylvian Syndrome
|
|
Perisylvian Syndrome
|
BPPX
|
|
Bpp
|
|
|
| Reflex Epilepsy |
|
Epilepsy, Reflex
|
Epilepsy, Sensory-Induced
|
|
Epilepsy Reflex
|
|
|
| Neonatal Period Electroclinical Syndrome |
|
|
| Sickle Cell Anemia |
|
Hemoglobin Sc Disease
|
Anemia, Sickle Cell
|
|
Hbsc Disease
|
Sickle Cell-Hemoglobin C Disease Syndrome
|
|
Hb Ss Disease
|
Sickle Cell Trait
|
|
Drepanocytosis
|
Haemoglobin Sc Disease
|
|
Hb Sc Disease
|
Hb-S/Hb-C Disease
|
|
Hb-Ss Disease Without Crisis
|
Hemoglobin S Disease Without Crisis
|
|
Sickle Cell Anaemia
|
Sickle-Cell/Hb-C Disease Without Crisis
|
|
Sickle Cell - Hemoglobin C Disease
|
Hbs Disease
|
|
Hemoglobin S Disease
|
Sickling Disorder Due To Hemoglobin S
|
|
SKCA
|
Sickle Cell Disease
|
|
Sickle Cell-Hemoglobin C Disease
|
Sickle-Cell Disease Carrier
|
|
Sickle-Cell Heterozygous Disorder
|
Haemoglobin A-S Genotype
|
|
Hb-S - [Sickle Cell Haemoglobin] Carrier
|
Sickle Cell Haemoglobin Trait
|
|
As - [Sickle Cell Trait]
|
Hbas - [Sickle Cell Haemoglobin Trait]
|
|
Sickle-Cell Trait Haemoglobin Disease
|
Haemoglobin Sickle Cell Trait Disorder
|
|
Heterozygous Sickle Cell Trait
|
Hbas - [Heterozygous Haemoglobin S]
|
|
|
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic Encephalopathy, Early Infantile, 13
|
DEE13
|
|
Eiee13
|
Developmental And Epileptic Encephalopathy, 13
|
|
Early Infantile Epileptic Encephalopathy 13
|
Scn8a Encephalopathy
|
|
Early Infantile Epileptic Encephalopathy-13
|
Scn8a Epilepsy
|
|
Encephalopathy, Developmental And Epileptic, Type 13
|
|
|
| Congenital Hemolytic Anemia |
|
Anemia Hemolytic Congenital
|
Anemia, Hemolytic, Congenital
|
|
Congenital Hemolytic Anaemia
|
Hereditary Hemolytic Anaemia
|
|
Hereditary Hemolytic Anemia
|
|
|
| Generalized Epilepsy With Febrile Seizures Plus |
|
Gefs+
|
Genetic Epilepsy With Febrile Seizures Plus
|
|
Generalized Epilepsy With Febrile Seizures-Plus
|
Genetic Epilepsy With Febrile Seizures-Plus
|
|
Epilepsy, Generalized, With Febrile Seizures Plus
|
|
|
| Pervasive Developmental Disorder |
|
Pervasive Development Disorder
|
Pervasive Developmental Disorders
|
|
Pervasive Child Development Disorders
|
Autistic Behavior
|
|
Autism Spectrum Disorders
|
|
|
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
H Syndrome
|
Histiocytosis With Joint Contractures And Sensorineural Deafness
|
|
Faisalabad Histiocytosis
|
Shml
|
|
Hjcd
|
Rosai-Dorfman Disease
|
|
Pigmented Hypertrichosis With Insulin-Dependent Diabetes Mellitus
|
Phid
|
|
Sinus Histiocytosis And Massive Lymphadenopathy
|
Familial Rosai-Dorfman Disease
|
|
Slc29a3 Spectrum Disorder
|
Sinus Histiocytosis With Massive Lymphadenopathy
|
|
Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures, And/Or Deafness
|
Hyperpigmentation, Cutaneous, With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss
|
|
Rosai-Dorfman Disease, Familial
|
Cutaneous Hyperpigmentation With Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, And Hypogonadism With Or Without Hearing Loss
|
|
Histiocytosis And Lymphadenopathy With Or Without Cutaneous, Cardiac, And/Or Endocrine Features, Joint Contractures And/Or Deafness
|
Rdd
|
|
Rosaï-Dorfman Disease
|
Slc29a3 Disorder
|
|
Destombes-Rosai-Dorfman Disease
|
Rosai-Dorfman-Destombes Disease
|
|
HLAS
|
Cutaneous Hyperpigmentation With Hypertrichosis Hepatosplenomegaly Heart Anomalies And Hypogonadism With Or Without Hearing Loss
|
|
Histiocytosis And Lymphadenopathy With Or Without Cutaneous Cardiac And/Or Endocrine Features Joint Contractures And/Or Deafness
|
H Disease
|
|
Sinus Histiocytosis
|
|
|
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile Seizures, Familial, 3a
|
GEFSP2
|
|
GEFS+2
|
Generalized Epilepsy With Febrile Seizures Plus 2
|
|
Gefs+, Type 2
|
Generalised Epilepsy With Febrile Seizures Plus 2
|
|
Generalised Epilepsy With Febrile Seizures Plus Type 2
|
Generalized Epilepsy With Febrile Seizures Plus Type 2
|
|
FEB3A
|
Familial Febrile Convulsions 3
|
|
Gefs+ Type 2
|
Epilepsy, Generalized, With Febrile Seizures Plus, Type 2
|
|
Febrile Convulsions, Familial, 3a
|
|
|
| Alpha-Thalassemia |
|
Alpha Thalassemia
|
Alpha Thalassaemia
|
|
Alpha Plus Thalassemia
|
Thalassemia, Alpha-
|
|
Thalassemias, Alpha-
|
A-Thalassemia
|
|
Α-Thalassemia
|
A-THAL
|
|
Thalassemia
|
Alpha Thalassaemia Syndrome
|
|
|
| Scrapie |
|
|
| Benign Neonatal Seizures |
|
Benign Neonatal Epilepsy
|
Benign Familial Neonatal Seizures
|
|
Benign Neonatal Convulsions
|
Benign Familial Neonatal Convulsions
|
|
Benign Familial Neonatal Epilepsy
|
Bfne
|
|
Bfns
|
Seizures, Benign Neonatal
|
|
Neonatal Convulsions Benign
|
Epilepsy, Benign Neonatal
|
|
Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
|
Familial Benign Neonatal Epilepsy
|
|
|
| Familial Hemiplegic Migraine |
|
Hemiplegic Migraine, Familial
|
Hemiplegic-Ophthalmoplegic Migraine
|
|
Fhm
|
Hemiplegic Migraine Familial
|
|
|
| Migraine With Aura |
|
Classic Migraine
|
Migraine With Typical Aura
|
|
Migraine Accompagnée
|
Complicated Migraine
|
|
Classical Migraine
|
Acute Migraine With Aura
|
|
|
| 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
|
|
|
| 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
|
|
|
| Hemoglobin E Disease |
|
Hb-E Disease
|
Hemoglobin E
|
|
|
| Epilepsy, Pyridoxine-Dependent |
|
Pyridoxine-Dependent Epilepsy
|
PDE
|
|
Pyridoxine Dependency With Seizures
|
Vitamin B6-Dependent Seizures
|
|
EPD
|
Aasa Dehydrogenase Deficiency
|
|
Antiquitin Deficiency
|
Pyridoxine Dependency
|
|
Glutamate Decarboxylase Deficiency
|
Pyridoxine-Dependent Seizures
|
|
Deficiency Of Glutamate Decarboxylase
|
|
|
| Benign Familial Neonatal Epilepsy |
|
Familial Neonatal Seizures
|
Bfns
|
|
Benign Familial Neonatal Convulsions
|
Benign Familial Neonatal Seizures
|
|
Epilepsy Benign Neonatal Familial
|
Familial Benign Neonatal Convulsions
|
|
Benign Neonatal Familial Convulsions
|
Familial Benign Neonatal Epilepsy
|
|
Epilepsy, Benign Neonatal, 2
|
Benign Familial Convulsion
|
|
|
| Ohtahara Syndrome |
|
|
| Familial Febrile Seizures |
|
Familial Febrile Convulsions
|
Feb
|
|
Febrile Seizures, Familial
|
|
|
| Dystonia 12 |
|
DYT12
|
Rdp
|
|
Generalized Dystonia
|
Dystonia-12
|
|
Rapid-Onset Dystonia-Parkinsonism
|
Familial Dystonia
|
|
Dystonia Musculorum Deformans
|
Dystonic Disorders
|
|
Idiopathic Familial Dystonia
|
Dystonia-Parkinsonism, Rapid-Onset
|
|
Fragments Of Torsion Dystonia
|
Dyt-Atp1a3
|
|
Rapid-Onset Dystonia Parkinsonism
|
Rodp
|
|
Dystonia, Type 12
|
Dystonia 3, Torsion, X-Linked
|
|
Idiopathic Non-Familial Dystonia
|
Symptomatic Torsion Dystonia
|
|
Dystonia Disorders
|
|
|
| Benign Familial Infantile Epilepsy |
|
Benign Familial Infantile Seizures
|
Bfie
|
|
Benign Familial Infantile Convulsion
|
Bfic
|
|
Bfis
|
Benign Familial Infantile Convulsions
|
|
Familial Benign Neonatal Epilepsy
|
Watanabe-Vigevano Syndrome
|
|
|
| Movement Disease |
|
Movement Disorders
|
Movement Disorder
|
|
|
| Early Onset Absence Epilepsy |
|
|
| Photosensitive Epilepsy |
|
Pse
|
Photogenic Epilepsy
|
|
Photoparoxysmal Response
|
Reflex Epilepsy, Photosensitive
|
|
Photoparoxysmal Response 1
|
|
|
| Episodic Ataxia |
|
Isaacs Syndrome
|
Neuromyotonia
|
|
Isaacs' Syndrome
|
Acquired Neuromyotonia
|
|
Continuous Muscle Fiber Activity Syndrome
|
Quantal Squander Syndrome
|
|
Isaacs-Mertens Syndrome
|
Ea Syndrome
|
|
Episodic Ataxia Syndrome
|
Isaac Syndrome
|
|
Isaac'S-Merten'S Syndrome
|
Isaac-Mertens Syndrome
|
|
Peripheral Nerve Hyperexcitability
|
Ea
|
|
Ataxia, Episodic
|
Isaacs Neuromyotonia
|
|
Continuous Muscle Fibre Activity
|
|
|
| Thalassemia Minor |
|
|
| Focal Epilepsy |
|
Partial Epilepsy
|
Epilepsies, Partial
|
|
Localisation-Related Epilepsy
|
|
|
| Kuru |
|
Kuru, Susceptibility To
|
Kuru Encephalopathy
|
|
Kuru Encephalitis
|
Kuru Disease
|
|
|
| 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
|
|
|
| Developmental And Epileptic Encephalopathy 11 |
|
Epileptic Encephalopathy, Early Infantile, 11
|
DEE11
|
|
Eiee11
|
Developmental And Epileptic Encephalopathy, 11
|
|
Early Infantile Epileptic Encephalopathy 11
|
Encephalopathy, Developmental And Epileptic, Type 11
|
|
|
| Long Qt Syndrome |
|
Romano-Ward Syndrome
|
Long Q-T Syndrome
|
|
Lqt
|
Qt Syndrome, Long
|
|
Congenital Long Qt Syndrome
|
Familial Long Qt Syndrome
|
|
|
| Episodic Kinesigenic Dyskinesia 1 |
|
Paroxysmal Kinesigenic Choreoathetosis
|
Paroxysmal Kinesigenic Dyskinesia
|
|
Dystonia 10
|
Familial Paroxysmal Kinesigenic Dyskinesia
|
|
Episodic Kinesigenic Dyskinesia
|
EKD1
|
|
Pkc
|
Pkd
|
|
Dyt10
|
Familial Pkd
|
|
Paroxysmal Kinesigenic Choreathetosis
|
Familial Paroxysmal Dystonia
|
|
Dystonia, Familial Paroxysmal
|
Dyt-Prrt2
|
|
Dystonia, Type 10
|
|
|
| Partial Motor Epilepsy |
|
Epilepsy, Partial, Motor
|
Epilepsy, Focal Motor
|
|
Focal Motor Seizure
|
|
|
| Childhood Electroclinical Syndrome |
|
|
| Hyperkalemic Periodic Paralysis |
|
HYPP
|
Gamstorp Disease
|
|
Gamstorp Episodic Adynamy
|
Adynamia Episodica Hereditaria With Or Without Myotonia
|
|
Familial Hyperkalemic Periodic Paralysis
|
Hyperkpp
|
|
Hyperpp
|
Adynamia Episodica Hereditaria
|
|
Primary Hyperkalemic Periodic Paralysis
|
Hyperkalemic Periodic Paralysis, Type 2
|
|
Sodium Channel Muscle Disease
|
Familial Hyperpp
|
|
Hyperkalemic Pp
|
Primary Hyperpp
|
|
Periodic Paralysis Hyperkalemic
|
Periodic Paralysis Normokalemic
|
|
NKPP
|
Periodic Paralysis Eukalemic
|
|
Paralysis, Hyperkalemic Periodic
|
Paralysis, Periodic, Hyperkalemic
|
|
Potassium Aggravated Myotonia
|
|
|
| Febrile Seizures |
|
Febrile Seizure
|
Febrile Convulsions
|
|
Seizures Febrile
|
|
|
| Type 1 Diabetes Mellitus 20 |
|
Diabetes Mellitus, Insulin-Dependent, 20
|
IDDM20
|
|
T1D20
|
Insulin-Dependent Diabetes Mellitus 20
|
|
Diabetes Mellitus, Insulin-Dependent, Type 20
|
|
|
| Seizures, Benign Familial Infantile, 3 |
|
Bfnis
|
Benign Familial Neonatal-Infantile Seizures
|
|
BFIS3
|
Bfic3
|
|
Seizures, Benign Familial Neonatal-Infantile
|
Convulsions, Benign Familial Infantile, 3
|
|
Benign Familial Infantile Seizures 3
|
Benign Familial Infantile Seizures, 3
|
|
Benign Familial Infantile Convulsions
|
Convulsions Benign Familial Neonatal
|
|
Epilepsy, Benign Neonatal-Infantile
|
Benign Neonatal-Infantile Epilepsy
|
|
Benign Familial Infantile Convulsions 3
|
Benign Familial Neonatal-Infantile Epilepsy
|
|
Familial Benign Neonatal Epilepsy
|
|
|
| Developmental And Epileptic Encephalopathy 21 |
|
DEE21
|
Epileptic Encephalopathy, Early Infantile, 21
|
|
Eiee21
|
Developmental And Epileptic Encephalopathy, 21
|
|
Early Infantile Epileptic Encephalopathy 21
|
Encephalopathy, Epileptic, Early Infantile, Type 21
|
|
|
| Episodic Ataxia, Type 9 |
|
|
| Lennox-Gastaut Syndrome |
|
Epileptic Encephalopathy Lennox-Gastaut Type
|
Lennox Syndrome
|
|
Encephalopathy Of Childhood
|
Childhood Epileptic Encephalopathy With Diffuse Slow Spikes And Waves
|
|
Lgs
|
|
|
| Hemoglobin C Disease |
|
Hb C Disease
|
Hb-C Disease
|
|
Hemoglobin C
|
|
|
| Spastic Ataxia |
|
|
| Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay |
|
CLIFAHDD
|
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
|
|
Clifahdd Syndrome
|
Doid:0081048
|
|
Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay
|
|
|
| Scn2a Related Disorders |
|
Scn2a-Related Disorder
|
Scn2a-Related Disorders
|
|
|
| Childhood Absence Epilepsy |
|
Pyknolepsy
|
Petit Mal Epilepsy
|
|
Absence Seizures
|
Absence Seizure
|
|
Petit Mal Seizure
|
Absence Epilepsy, Childhood
|
|
Pykno-Epilepsy
|
Epilepsy, Absence
|
|
Absence Epilepsy
|
Pycnolepsy
|
|
|
| Seizures, Benign Familial Infantile, 1 |
|
BFIS1
|
Convulsions, Benign Familial Infantile, 1
|
|
Bfic1
|
Benign Infantile Familial Convulsions
|
|
Benign Familial Infantile Seizures 1
|
Benign Familial Infantile Seizures, 1
|
|
Benign Familial Infantile Epilepsy
|
Bfic
|
|
Benign Familial Infantile Convulsions Syndrome
|
Familial Benign Neonatal Epilepsy
|
|
|
| Developmental And Epileptic Encephalopathy |
|
Encephalopathy, Developmental And Epileptic
|
|
|
| Landau-Kleffner Syndrome |
|
Acquired Epileptic Aphasia
|
Lks
|
|
Acquired Aphasia With Convulsive Disorder
|
Acquired Epileptiform Aphasia
|
|
Landau Kleffner Syndrome
|
Childhood Epileptic Aphasia
|
|
|
| Benign Epilepsy With Centrotemporal Spikes |
|
Benign Rolandic Epilepsy
|
Rolandic Epilepsy
|
|
Epilepsy, Rolandic
|
Bcects
|
|
Benign Childhood Epilepsy With Centrotemporal Spike
|
Sylvan Seizures
|
|
Becrs
|
Bects
|
|
Bre
|
Benign Epilepsy Of Childhood With Centrotemporal Spikes
|
|
Benign Familial Epilepsy Of Childhood With Rolandic Spikes
|
Centrotemporal Epilepsy
|
|
|
| Hemolytic Anemia |
|
Anemia, Hemolytic
|
Anemia Hemolytic
|
|
Anaemia Due To Other Disorders Of Glutathione Metabolism
|
Chronic Non Spherocytic Anaemia
|
|
G6pd - [Glucose-6-Phosphate Dehydrogenase Deficiency] Anaemia
|
Anaemia Due To Glucose-6-Phosphate Dehydrogenase Deficiency
|
|
Glucose-6-Phosphate Dehydrogenase Deficiency With Anaemia
|
Glucose-6-Phosphate Dehydrogenase Deficiency Anaemia
|
|
Favism Anaemia
|
Haemolytic Anaemia Due Tog6pd Deficiency
|
|
Favism
|
Pentose Phosphate Pathway Disorder Anaemia
|
|
Anaemia Due To Pentose Phosphate Pathway Defect
|
|
|
| Early Infantile Epileptic Encephalopathy |
|
Early Infantile Epileptic Encephalopathy With Suppression Bursts
|
Early Infantile Epileptic Encephalopathy With Burst-Suppression
|
|
Eiee
|
Early Infantile Epileptic Encephalopathy With Suppression-Bursts
|
|
Ohtahara Syndrome
|
Encephalopathy, Epileptic, Early Infantile
|
|
|
| Adolescence-Adult Electroclinical Syndrome |
|
|
| Erythromelalgia |
|
Primary Erythromelalgia
|
Erythermalgia
|
|
Primary Erythermalgia
|
Mitchell Disease
|
|
Familial Erythromelalgia
|
|
|
| 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
|
|
|
| Creutzfeldt-Jakob Disease |
|
Variant Creutzfeldt-Jakob Disease
|
CJD
|
|
Bovine Spongiform Encephalopathy
|
Vcjd
|
|
Inherited Creutzfeldt-Jakob Disease
|
Creutzfeldt-Jakob Disease, Familial
|
|
Creutzfeldt Jakob Disease
|
Creutzfeldt-Jacob Disease
|
|
Creutzfeldt Jacob Disease
|
Sporadic Creutzfeldt-Jakob Disease
|
|
Encephalopathy, Bovine Spongiform
|
Creutzfeldt-Jakob Disease, Variant, Resistance To
|
|
Creutzfeldt-Jakob Disease, Variant
|
Creutzfeldt Jacob Syndrome
|
|
Jakob-Creutzfeldt Disease
|
Subacute Spongiform Encephalopathy
|
|
Transmissible Virus Dementia
|
New Variant Of Cjd
|
|
Nv-Cjd
|
Variant Cjd
|
|
Variant Creutzfeldt-Jacob Disease
|
Sporadic Cjd
|
|
Inherited Cjd
|
Acquired Creutzfeldt-Jakob Disease
|
|
Variant Mcj
|
Encephalopathy Bovine Spongiform
|
|
Familial Creutzfeldt-Jakob Disease
|
Creutzfeldt-Jakob Syndrome
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New Variant Creutzfeldt-Jakob Disease
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Creutzfeldt-Jakob Disease, Sporadic
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Acquired Cjd
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Scjd - [Sporadic Creutzfeldt-Jakob Disease]
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Idiopathic Creutzfeldt-Jakob Disease
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Creutzfeld-Jakob Disease Nos
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Vcjd - [Variant Creutzfeldt-Jakob Disease]
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| Beta-Thalassemia Major |
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Cooley'S Anemia
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Cooley Anemia
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Mediterranean Anemia
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| Schizophrenia |
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SCZD
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Schizophrenia With Or Without An Affective Disorder
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Schizophrenia 12
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Schizophrenia, Susceptibility To
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Schizophrenia-1
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Dementia Praecox
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Schizophrenia 1
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| Non-Specific Syndromic Intellectual Disability |
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Complex Neurodevelopmental Disorder
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| Epilepsy, Myoclonic Juvenile |
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Juvenile Myoclonic Epilepsy
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Janz Syndrome
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Jme
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Myoclonic Epilepsy, Juvenile, Susceptibility To, 1
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EJM
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Myoclonic Epilepsy, Juvenile
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Petit Mal, Impulsive
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Myoclonic Epilepsy, Juvenile 1
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Myoclonic Epilepsy, Juvenile, 1
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Adolescent Myoclonic Epilepsy
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Juvenile Myoclonus Epilepsy
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Juvenile Myoclonic Epilepsy 1
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EJM1
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Petit Mal Impulsive
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Susceptibility To Juvenile Myoclonic Epilepsy 1
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Myoclonic Epilepsy Juvenile
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Epilepsy, Myoclonic, Juvenile
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Myoclonic Epilepsy Of Janz
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Jme - [Juvenile Myoclonic Epilepsy]
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| Progressive Myoclonus Epilepsy |
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Pme
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Progressive Myoclonic Epilepsy
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Myoclonic Epilepsies, Progressive
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Unverricht-Lundborg Syndrome
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| Rett Syndrome |
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Atypical Rett Syndrome
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RTT
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Rts
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Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use
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Rett Syndrome, Atypical
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Rett Syndrome, Preserved Speech Variant
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Rett'S Disorder
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Rett Syndrome Variant
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Rett Disorder
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Cerebroatrophic Hyperammonemia
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Rett Like Syndrome
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome
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Rett'S Syndrome
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Atypical Rtt
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Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use
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Rett Syndrome Preserved Speech Variant
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Rett Syndrome Zappella Variant
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Rett Syndrome, Zappella Variant
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| Developmental And Epileptic Encephalopathy 14 |
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Malignant Migrating Partial Seizures Of Infancy
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Eiee14
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Epilepsy Of Infancy With Migrating Focal Seizures
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Mmpsi
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DEE14
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Epileptic Encephalopathy, Early Infantile, 14
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Early Infantile Epileptic Encephalopathy 14
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Malignant Migrating Partial Epilepsy Of Infancy
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Migrating Partial Epilepsy Of Infancy
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Migrating Partial Seizures Of Infancy
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Mmpei
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Mpei
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Mpsi
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Malignant Migrating Focal Seizures Of Infancy
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Migrating Partial Seizures In Infancy
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Developmental And Epileptic Encephalopathy, 14
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Encephalopathy, Epileptic, Early Infantile, Type 14
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| Developmental And Epileptic Encephalopathy 60 |
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DEE60
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Epileptic Encephalopathy, Early Infantile, 60
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Eiee60
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Developmental And Epileptic Encephalopathy, 60
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Early Infantile Epileptic Encephalopathy 60
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| Chronic Wasting Disease |
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| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
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Adnfle
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Autosomal Dominant Sleep-Related Hypermotor Epilepsy
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Enfl
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Benign Familial Infantile Seizures 6
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Benign Familial Infantile Seizures, 6
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Nocturnal Frontal Lobe Epilepsy-4
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Enfl1
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Epilepsy, Nocturnal Frontal Lobe, 1
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Epilepsy, Nocturnal Frontal Lobe, Type 1
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| Alternating Hemiplegia Of Childhood |
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Alternating Hemiplegia
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Ahc
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Alternating Hemiplegia Syndrome
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Hemiplegia, Alternating, Of Childhood
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Hemiplegia, Crossed
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| Hypokalemic Periodic Paralysis, Type 1 |
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Hypokalemic Periodic Paralysis
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Hokpp
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Hypopp
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Westphall Disease
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HOKPP1
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Familial Hypokalemic Periodic Paralysis
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Familial Periodic Paralysis
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Westphal Disease
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Hypokalemic Periodic Paralysis Type 1
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Hypokalemic Familial Periodic Paralysis
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Periodic Hypokalemic Paralysis
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Periodic Paralysis I
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Hypokpp
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Primary Hypokalemic Periodic Paralysis
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Periodic Paralysis Hypokalemic 1
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Paralysis, Hypokalemic, Periodic
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Paralysis, Hypokalemic, Periodic, Type 1
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| 3-Methylglutaconic Aciduria, Type Iii |
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Optic Atrophy
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3-Methylglutaconic Aciduria Type 3
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Costeff Syndrome
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Mga3
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Costeff Optic Atrophy Syndrome
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Optic Atrophy Plus Syndrome
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Infantile Optic Atrophy With Chorea And Spastic Paraplegia
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3-Methylglutaconic Aciduria Type Iii
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Autosomal Recessive Optic Atrophy Plus Syndrome
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Autosomal Recessive Optic Atrophy Type 3
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Opa3 Defect
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MGCA3
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Mga, Type Iii
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Iraqi Jewish Optic Atrophy Plus
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Mga Type Iii
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Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia
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Iraqi-Jewish 'Optic Atrophy Plus'
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Optic Atrophy 3, Autosomal Recessive
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Opa3, Autosomal Recessive
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Opa3-Related 3-Methylglutaconic Aciduria
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Iraqi-Jewish Optic Atrophy Plus
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Atrophy Of Optic Disc
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3-Alpha Methylglutaconic Aciduria Type Iii
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Optic Atrophy 3
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Optic Atrophy Infantile With Chorea And Spastic Paraplegia
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Autosomal Recessive Opa3
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Autosomal Recessive Optic Atrophy 3
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3-Methylglutaconic Aciduria 3
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3-Alpha-Methylglutaconic Aciduria Type 3
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Optic Atrophy 3 Autosomal Recessive
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Atrophy, Optic
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Atrophy, Optic, Plus Syndrome
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Optic Nerve Atrophy
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Primary Optic Atrophy
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Oa - [Optic Atrophy]
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Second Cranial Nerve Atrophy
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Second Cranium Nerve Atrophy
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| Fetal Hemoglobin Quantitative Trait Locus 1 |
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Hereditary Persistence Of Fetal Hemoglobin
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Delta-Beta-Thalassemia
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Delta-Beta Thalassemia
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Delta Beta-Thalassemia
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HBFQTL1
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Hemoglobin F, Hereditary Persistence Of
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Hpfh
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Hereditary Persistence Of Fetal Hemoglobin, Hb Gene Cluster-Related
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Hemoglobin, Fetal, Quantitative Trait Locus 1
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Hereditary Persistence Of Fetal Hemoglobin Thalassemia
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Hpfh - [Hereditary Persistence Of Fetal Haemoglobin]
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Fetal Haemoglobin
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Persistence Of Fetal Haemoglobin
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Persistent Haemoglobin F
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| Specific Developmental Disorder |
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| Pitt-Hopkins Syndrome |
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PTHS
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Encephalopathy, Severe Epileptic, With Autonomic Dysfunction
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Mental Retardation, Syndromal, With Intermittent Hyperventilation
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Intellectual Disability, Wide Mouth, Distinctive Facial Features, And Intermittent Hyperventilation Followed By Apnea
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Pitt Hopkins Syndrome
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Phs
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Encephalopathy Severe Epileptic With Autonomic Dysfunction
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| Autism |
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Autistic Disorder
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Autism Susceptibility 1
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Childhood Autism
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Autistic Disorder Of Childhood Onset
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Infantile Autism
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Kanner'S Syndrome
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Autistic
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| Familial Periodic Paralysis |
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Genetic Periodic Paralysis
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Paralyses, Familial Periodic
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| Migraine, Familial Hemiplegic, 3 |
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FHM3
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Familial Hemiplegic Migraine 3
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Mhp3
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Migraine, Hemiplegic, Familial, Type 3
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| Coffin-Siris Syndrome 1 |
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Coffin-Siris Syndrome
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Fifth Digit Syndrome
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Css
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CSS1
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Mrd12
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Mental Retardation, Autosomal Dominant 12
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Hhid
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Dwarfism-Onychodysplasia
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Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features
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Autosomal Dominant Mental Retardation 12
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Short Stature-Onychodysplasia.
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Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
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Mental Retardation With Hypoplastic Fifth Fingernails And Toenails
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Short Stature-Onychodysplasia
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Coffin-Siris Syndrome, Type 1
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Mental Retardation, Autosomal Dominant, Type 12
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| Developmental And Epileptic Encephalopathy 43 |
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DEE43
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Epileptic Encephalopathy, Early Infantile, 43
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Eiee43
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Developmental And Epileptic Encephalopathy, 43
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Early Infantile Epileptic Encephalopathy 43
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| Hemoglobin D Disease |
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Hb-D Disease
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Punjab Disease
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Los Angeles Disease
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Hb D Los Angeles Disease
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Hb D Punjab Disease
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| Hemoglobinopathy |
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| Developmental And Epileptic Encephalopathy 2 |
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Epileptic Encephalopathy, Early Infantile, 2
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DEE2
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Eiee2
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Issx2
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Developmental And Epileptic Encephalopathy, 2
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Infantile Spasm Syndrome, X-Linked 2
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Early Infantile Epileptic Encephalopathy 2
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X-Linked Infantile Spasm Syndrome 2
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Atypical Rett Syndrome Cdkl5-Related
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Atypical Rett Syndrome Hanefeld Variant
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Infantile Spasm Syndrome X-Linked 2
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Rett Syndrome Early-Onset Seizure Variant
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Rett Syndrome Variant With Infantile Spasms
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Encephalopathy, Epileptic, Early Infantile, Type 2
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| Paramyotonia Congenita Of Von Eulenburg |
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Paramyotonia Congenita
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PMC
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Paralysis Periodica Paramyotonica
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Eulenburg Disease
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Myotonia Congenita Intermittens
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Von Eulenburg Paramyotonia Congenita
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Paralysis Periodica Paramyotonia
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Von Eulenberg'S Disease
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Paramyotonia Congenita Without Cold Paralysis
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Eulenburg Syndrome
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Paramyotonia
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| Epilepsy With Generalized Tonic-Clonic Seizures |
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Tonic-Clonic Epilepsy
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Epileptic Seizures, Tonic-Clonic
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Grand Mal Epilepsy
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Epilepsy, Tonic-Clonic
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| Nervous System Disease |
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Abnormality Of The Nervous System
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Nervous System Diseases
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Nervous System Disorder
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| Brugada Syndrome |
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Sudden Unexpected Nocturnal Death Syndrome
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Sudden Unexplained Nocturnal Death Syndrome
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Bangungut
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Brugada Type Idiopathic Ventricular Fibrillation
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Pokkuri Death Syndrome
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Sunds
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Idiopathic Ventricular Fibrillation, Brugada Type
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Sudden Unexplained Death
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Dream Disease
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Right Bundle Branch Block, St Segment Elevation, And Sudden Death Syndrome
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Sudden Unexplained Death Syndrome
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Suds
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Sunds - [Sudden Unexplained Nocturnal Death Syndrome]
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| Developmental And Epileptic Encephalopathy 7 |
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Epileptic Encephalopathy, Early Infantile, 7
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DEE7
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Eiee7
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Kcnq2-Related Epileptic Encephalopathy
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Kcnq2-Related Neonatal Epileptic Encephalopathy
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Developmental And Epileptic Encephalopathy, 7
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Early Infantile Epileptic Encephalopathy 7
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Kcnq2-Nee
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Ohtahara Syndrome
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Encephalopathy, Epileptic, Early Infantile, Type 7
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Early Infantile Epileptic Encephalopathy With Suppression Bursts
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| Trigeminal Nerve Disease |
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Trigeminal Nerve Diseases
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Disorders Of 5th Cranial Nerve
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Disorders Of The Fifth Cranial Nerve
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| Hemoglobin H Disease |
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HBH
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Hemoglobin H Disease, Nondeletional
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Hemoglobin H Disease, Deletional
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Alpha-Thalassemia Intermedia
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Haemoglobin H Disease
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Alpha-Thalassemia, Hemoglobin H Type
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Hemoglobin H Disease, Deletional And Nondeletional
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Alpha Thalassemia, Haemoglobin H Type
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Alpha Thalassemia, Hemoglobin H Type
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Haemoglobin H Disease, Deletional
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Hbh Disease
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Alpha-Thalassemia Hemoglobin H Type
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Hemoglobin H Disease Deletional
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Hemoglobin H Disease Non-Deletional
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Alpha-Thalassemia
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Alpha - /- - Or Mutational Forms Of Alpha-Thalassaemia
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Alpha Thalassaemia Intermedia
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| Migraine With Or Without Aura 1 |
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Migraine
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Migraine With Or Without Aura, Susceptibility To, 1
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Migraine Disorder
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Migraine Variant
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Migraines
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Migraine Disorders
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Mgr1
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Mgau
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Ma
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Migraine With Or Without Aura
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Classic Migraine
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Common Migraine
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Disorder, Migraine
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Headache Migraine
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Headache Migrainous
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Migraine Headache
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Migraine Syndrome
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Headache Including Migraine
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Migraine, Susceptibility To
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| Episodic Ataxia, Type 8 |
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Episodic Ataxia Type 8
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EA8
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Episodic Ataxia With Slurred Speech
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| Epilepsy |
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Epilepsy Syndrome
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Epileptic Syndrome
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Epilepsies
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Symptomatic Epilepsies
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Post Traumatic Epilepsy
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Traumatic Epilepsy
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Traumatic Epileptic
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Epilepsy Due To Hippocampal Sclerosis
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Epilepsy With Ammon'S Horn Sclerosis
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Epilepsy Due To Cortical Dysplasia
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Epilepsy Due To Neuronal Migration Disorders
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| Dravet Syndrome |
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Severe Myoclonic Epilepsy Of Infancy
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Smei
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Severe Myoclonic Epilepsy In Infancy
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Epileptic Encephalopathy, Early Infantile, 6
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DRVT
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Developmental And Epileptic Encephalopathy 6a
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Dee6a
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Eiee6
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Dee6
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Developmental And Epileptic Encephalopathy 6
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Early Infantile Epileptic Encephalopathy 6
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Myoclonic Epilepsy, Severe, Of Infancy
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Sme
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Severe Myoclonus Epilepsy Of Infancy
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Borderline Smei
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Smeb
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Smeb-M
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Smeb-O
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Smeb-Sw
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Smei-Borderland
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Smei-Borderland More Than One Feature
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Smei-Borderland-Myoclonic Seizures
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Smei-Borderland-Spike Wave
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Intractable Childhood Epilepsy With Generalized Tonic-Clonic Seizures
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ICEGTC
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Developmental And Epileptic Encephalopathy, 6
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Infantile Severe Myoclonic Epilepsy
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Epilepsy, Intractable Childhood, With Generalized Tonic-Clonic Seizures
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| West Syndrome |
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Infantile Spasms
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Infantile Spasms Syndrome
|
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Infantile Spasm
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X-Linked Infantile Spasm Syndrome
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X-Linked Infantile Spasms
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Epileptic Encephalopathy, Early Infantile, 1
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Is
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Tonic Spasms With Clustering, Arrest Of Psychomotor Development And Hypsarrhythmia On Eeg
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West'S Syndrome
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Spasms, Infantile
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Is -[Infantile Spasm]
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Salaam Spasm
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Salaam Tic
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| Congenital Nervous System Abnormality |
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Congenital Neurologic Anomaly
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Congenital Nervous System Disorder
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