DiseaseID 4469
肌张力障碍
disease
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild c
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Disease: 1Experiment: 2Formula: 24Herb: 12Symptom: 12Target: 24Links: 74
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 4469
- Core Entity Id
- 60820
- Source Entity Count
- 1
- Preferred Name
- Dystonia
- Name Cn
- 肌张力障碍
- Name Pinyin
- Ji Zhang Li Zhang Ai
- Name En
- Dystonia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Cardiovascular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Respiratory Tract DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesImmune System Diseases; Nervous System DiseasesInfections; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic DiseasesNervous System Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
- Hpo Class
- Abnormality of the integument; Abnormality of the cardiovascular systemAbnormality of the nervous system
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System DiseasesImmune System Diseases; Nervous System DiseasesNervous System DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
- Hpo Class Name
- Abnormality of the integument; Abnormality of the cardiovascular systemAbnormality of the nervous system
- Do Class Name
- disease of anatomical entitydisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild c
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Dystonia
Role
preferred
Name
Aminoacylase 2 Deficiency
Role
preferred
Name
Arylsulfatase A Deficiency
Role
preferred
Name
Canavan Disease
Role
preferred
Name
Canavan Disease, Infantile
Role
preferred
Name
Canavan Disease, Neonatal
Role
preferred
Name
Dyskinetic Syndrome
Role
preferred
Name
Dystonia 1, Torsion, Autosomal Dominant
Role
preferred
Name
Dystonia 12
Role
preferred
Name
Dystonia 25
Role
preferred
Name
Dystonia 27
Role
preferred
Name
Dystonia 3, Torsion, X-Linked
Role
preferred
Name
Dystonia Disorders
Role
preferred
Name
Dystonia Musculorum Deformans
Role
preferred
Name
Early-Onset Generalized Limb-Onset Dystonia
Role
preferred
Name
Fabry Disease
Role
preferred
Name
Fabry Disease, Cardiac Variant
Role
preferred
Name
Gaucher Disease
Role
preferred
Name
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Role
preferred
Name
Gaucher-Like Disease
Role
preferred
Name
Leukodystrophy, Hypomyelinating, 2
Role
preferred
Name
Leukodystrophy, Hypomyelinating, 4
Role
preferred
Name
Leukodystrophy, Hypomyelinating, 6
Role
preferred
Name
Leukodystrophy, Hypomyelinating, 9
Role
preferred
Name
Leukodystrophy, Metachromatic
Role
preferred
Name
Leukoencephalopathies
Role
preferred
Name
Metachromatic Leukodystrophy
Role
preferred
Name
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Role
preferred
Name
Metachromatic Leukodystrophy, Adult-Type (Disorder)
Role
preferred
Name
Metachromatic Leukodystrophy, Infant
Role
preferred
Name
Metachromatic Leukodystrophy, Juvenile Type
Role
preferred
Name
Mild Canavan Disease
Role
preferred
Name
Nasu-Hakola Disease
Role
preferred
Name
Niemann-Pick Disease, Intermediate, Protracted Neurovisceral
Role
preferred
Name
Niemann-Pick Disease, Nova Scotian Type
Role
preferred
Name
Niemann-Pick Disease, Type A
Role
preferred
Name
Niemann-Pick Disease, Type C
Role
preferred
Name
Niemann-Pick Disease, Type C1
Role
preferred
Name
Niemann-Pick Disease, Type C2
Role
preferred
Name
Niemann-Pick Disease, Type D
Role
preferred
Name
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Role
preferred
Name
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Role
preferred
Name
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy
Role
preferred
Name
Pseudoarylsulfatase A Deficiency
Role
preferred
Name
Severe Canavan Disease
Role
preferred
Name
Whispering Dysphonia, Hereditary
Role
preferred
Name
Adult Onset Autosomal Dominant Leukodystrophy
Role
preferred
Name
Adult-Onset Autosomal Dominant Leukodystrophy
Role
preferred
Name
Adult-Onset Dystonias
Role
preferred
Name
Adult-Onset Idiopathic Focal Dystonias
Role
preferred
Name
Adult-Onset Idiopathic Torsion Dystonias
Role
preferred
Name
Asterixis
Role
preferred
Name
Autosomal Dominant Familial Dystonia
Role
preferred
Name
Autosomal Recessive Familial Dystonia
Role
preferred
Name
Ballismus
Role
preferred
Name
Canavan Disease, Familial Form
Role
preferred
Name
Canavan Disease, Juvenile
Role
preferred
Name
Canavan Disease, Sporadic Form
Role
preferred
Name
Childhood Ataxia With Central Nervous System Hypomyelinization
Role
preferred
Name
Childhood Onset Dystonias
Role
preferred
Name
DYSTONIA 16 (disorder)
Role
preferred
Name
DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE (disorder)
Role
preferred
Name
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)
Role
preferred
Name
Dopa-Responsive Dystonia
Role
preferred
Name
Dystonia 13, Torsion
Role
preferred
Name
Dystonia 17, Torsion, Autosomal Recessive (Disorder)
Role
preferred
Name
Dystonia 21
Role
preferred
Name
Dystonia 6, Torsion (Disorder)
Role
preferred
Name
Dystonia, Diurnal
Role
preferred
Name
Dystonia, Limb
Role
preferred
Name
Dystonia, Paroxysmal
Role
preferred
Name
Dystonia, Primary
Role
preferred
Name
Dystonia, Secondary
Role
preferred
Name
Dystonias, Sporadic
Role
preferred
Name
Early Onset Torsion Dystonia
Role
preferred
Name
Encephalopathy Due To Prosaposin Deficiency
Role
preferred
Name
Familial Dystonia
Role
preferred
Name
Familial Torsion Dystonia
Role
preferred
Name
Farber Disease
Role
preferred
Name
Focal Dystonia
Role
preferred
Name
Fragments of Torsion Dystonia
Role
preferred
Name
GAUCHER DISEASE, PERINATAL LETHAL
Role
preferred
Name
Gaucher Disease Type 1
Role
preferred
Name
Gaucher Disease Type 2
Role
preferred
Name
Gaucher Disease Type 3
Role
preferred
Name
Gaucher Disease, Type 1
Role
preferred
Name
Gaucher Disease, Type 2 (Disorder)
Role
preferred
Name
Gaucher Disease, Type 3 (Disorder)
Role
preferred
Name
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Role
preferred
Name
Hemiballismus
Role
preferred
Name
Idiopathic Familial Dystonia
Role
preferred
Name
Idiopathic Non-Familial Dystonia
Role
preferred
Name
Involuntary Movements
Role
preferred
Name
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Role
preferred
Name
Leukoencephalopathy
Role
preferred
Name
Lingual-Facial-Buccal Dyskinesia
Role
preferred
Name
Multiple Sulfatase Deficiency
Role
preferred
Name
Myoclonic Dystonia
Role
preferred
Name
NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL (disorder)
Role
preferred
Name
Niemann Pick Disease, Adult Non Neuronopathic
Role
preferred
Name
Niemann-Pick Disease, Type B
Role
preferred
Name
Niemann-Pick Disease, Type E
Role
preferred
Name
OVARIOLEUKODYSTROPHY
Role
preferred
Name
Oral Dyskinesia
Role
preferred
Name
Other Sphingolipidosis
Role
preferred
Name
POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
Role
preferred
Name
Pelizaeus-Merzbacher-Like Disease, Autosomal Recessive, 2
Role
preferred
Name
Pseudodystonia
Role
preferred
Name
Symptomatic Torsion Dystonia
Role
preferred
Name
Writer'S Cramp
Role
preferred
Name
ACY2 DEFICIENCY
Role
alias
Name
ANGIOKERATOMA CORPORIS DIFFUSUM
Role
alias
Name
ARSA DEFICIENCY
Role
alias
Name
ASP DEFICIENCY
Role
alias
Name
ASPA DEFICIENCY
Role
alias
Name
ASPARTOACYLASE DEFICIENCY
Role
alias
Name
Adult-Onset Autosomal Dominant Demyelinating Leukodystrophy
Role
alias
Name
Alpha-galactosidase A Deficiency
Role
alias
Name
Anderson-Fabry Disease
Role
alias
Name
Atypical Gaucher'S Disease Due To Saposin C Deficiency
Role
alias
Name
BRAIN-BONE-FAT DISEASE
Role
alias
Name
CANAVAN-VAN BOGAERT-BERTRAND DISEASE
Role
alias
Name
CERAMIDE TRIHEXOSIDASE DEFICIENCY
Role
alias
Name
CEREBRAL SCLEROSIS, DIFFUSE, METACHROMATIC FORM
Role
alias
Name
CEREBROSIDE SULFATASE DEFICIENCY
Role
alias
Name
DEMENTIA, PREFRONTAL, WITH BONE CYSTS
Role
alias
Name
DEMENTIA, PROGRESSIVE, WITH LIPOMEMBRANOUS POLYCYSTIC OSTEODYSPLASIA
Role
alias
Name
DYSTONIA MUSCULORUM DEFORMANS 1
Role
alias
Name
DYSTONIA-PARKINSONISM, RAPID-ONSET
Role
alias
Name
DYSTONIA-PARKINSONISM, X-LINKED
Role
alias
Name
DYT1
Role
alias
Name
DYT12
Role
alias
Name
DYT25
Role
alias
Name
DYT27
Role
alias
Name
DYT3
Role
alias
Name
Diffuse Angiokeratoma
Role
alias
Name
Dyskinesia
Role
alias
Name
Dyskinesias
Role
alias
Name
Dyskinesis
Role
alias
Name
Dystonia 11, Myoclonic
Role
alias
Name
Dystonia 13, Torsion, Autosomal Dominant
Role
alias
Name
Dystonia 16
Role
alias
Name
Dystonia 17, Torsion, Autosomal Recessive
Role
alias
Name
Dystonia 2, Torsion, Autosomal Recessive
Role
alias
Name
Dystonia 4, Torsion, Autosomal Dominant
Role
alias
Name
Dystonia 5
Role
alias
Name
Dystonia 6, Torsion
Role
alias
Name
Dystonia Musculorum Deformans 4
Role
alias
Name
Dystonia Musculorum Deformans Type 1
Role
alias
Name
Dystonia Musculorum Deformans Type 2
Role
alias
Name
Dystonia, Dopa-Responsive
Role
alias
Name
Dystonia, Idiopathic Familial
Role
alias
Name
Dystonia, Torsion, 2, Autosomal Recessive
Role
alias
Name
Dystonia, Unspecified
Role
alias
Name
Dystonic Disorders
Role
alias
Name
Dystonic Movements
Role
alias
Name
EARLY-ONSET TORSION DYSTONIA
Role
alias
Name
EOTD
Role
alias
Name
Early-onset Generalized Torsion Dystonia
Role
alias
Name
Early-onset Primary Dystonia
Role
alias
Name
Episodic Dystonia
Role
alias
Name
FD
Role
alias
Name
Fabry Syndrome
Role
alias
Name
GLA DEFICIENCY
Role
alias
Name
Gaucher Disease, Acute Neuronopathic
Role
alias
Name
Gaucher Disease, Type I
Role
alias
Name
Gaucher Disease, Type Ii
Role
alias
Name
Gaucher Disease, Type Iii
Role
alias
Name
Gaucher'S Disease
Role
alias
Name
Gaucher'S Disease Perinatal Lethal
Role
alias
Name
Gaucher'S Disease Type I
Role
alias
Name
Gaucher'S Disease Type Ii
Role
alias
Name
Gaucher'S Disease Type Iii
Role
alias
Name
Generalized Dystonia
Role
alias
Name
HEREDITARY DYSTOPIC LIPIDOSIS
Role
alias
Name
HLD2
Role
alias
Name
HLD4
Role
alias
Name
HLD9
Role
alias
Name
Hypomyelinating Leukodystrophy 2
Role
alias
Name
Hypomyelinating Leukodystrophy 3
Role
alias
Name
Hypomyelinating Leukodystrophy 4
Role
alias
Name
Hypomyelinating Leukodystrophy 6
Role
alias
Name
Hypomyelinating Leukodystrophy 9
Role
alias
Name
Idiopathic Dys
Role
alias
Name
Idiopathic Nonfamilial Dystonia
Role
alias
Name
Idiopathic Torsion Dystonia
Role
alias
Name
Infantile Canavan Disease
Role
alias
Name
Involuntary Muscle Contractions
Role
alias
Name
Juvenile Canavan Disease
Role
alias
Name
Juvenile-Type Metachromatic Leukodystrophy
Role
alias
Name
Leukodystrophy, Hypomyelinating, 3
Role
alias
Name
Leukoencephalopathy With Vanishing White Matter
Role
alias
Name
Limb Dystonia
Role
alias
Name
METACHROMATIC LEUKODYSTROPHY DUE TO CEREBROSIDE SULFATASE ACTIVATOR DEFICIENCY
Role
alias
Name
METACHROMATIC LEUKODYSTROPHY, ADULT
Role
alias
Name
METACHROMATIC LEUKODYSTROPHY, JUVENILE
Role
alias
Name
METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
Role
alias
Name
METACHROMATIC LEUKOENCEPHALOPATHY
Role
alias
Name
MITCHAP60 DISEASE
Role
alias
Name
MITOCHONDRIAL HSP60 CHAPERONOPATHY
Role
alias
Name
MLD
Role
alias
Name
Metachromatic Leukodystrophy, Adult-Type
Role
alias
Name
Myoclonic Dystonia 11
Role
alias
Name
NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA
Role
alias
Name
NHD
Role
alias
Name
NIEMANN-PICK DISEASE WITH CHOLESTEROL ESTERIFICATION BLOCK
Role
alias
Name
NIEMANN-PICK DISEASE WITHOUT SPHINGOMYELINASE DEFICIENCY
Role
alias
Name
NIEMANN-PICK DISEASE, CHRONIC NEURONOPATHIC FORM
Role
alias
Name
NIEMANN-PICK DISEASE, SUBACUTE JUVENILE FORM
Role
alias
Name
NPC
Role
alias
Name
NPC1
Role
alias
Name
NPC2
Role
alias
Name
Neonatal Canavan Disease
Role
alias
Name
Neurologic Waardenburg-Shah Syndrome
Role
alias
Name
Niemann-Pick Disease Type A
Role
alias
Name
Niemann-Pick Disease Type B
Role
alias
Name
Niemann-Pick Disease Type C1
Role
alias
Name
Niemann-Pick Disease Type C2
Role
alias
Name
Oppenheim Dystonia
Role
alias
Name
Orofacial Dyskinesia
Role
alias
Name
Orofacial Dyskinesias
Role
alias
Name
PCWH
Role
alias
Name
PELIZAEUS-MERZBACHER-LIKE DISEASE, 1
Role
alias
Name
PLO-SL
Role
alias
Name
PMLD1
Role
alias
Name
PRESENILE DEMENTIA WITH BONE CYSTS
Role
alias
Name
Paroxysmal Dystonia
Role
alias
Name
Pcwh Syndrome
Role
alias
Name
RDP
Role
alias
Name
SAPOSIN B DEFICIENCY
Role
alias
Name
SPHINGOMYELIN LIPIDOSIS
Role
alias
Name
SPHINGOMYELINASE DEFICIENCY
Role
alias
Name
SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM
Role
alias
Name
SULFATIDE LIPIDOSIS
Role
alias
Name
TORSION DYSTONIA-PARKINSONISM, FILIPINO TYPE
Role
alias
Name
Torsion Dystonia
Role
alias
Name
Torsion Dystonia 1
Role
alias
Name
Torsion Dystonia 13
Role
alias
Name
Torsion Dystonia 17
Role
alias
Name
Torsion Dystonia 2
Role
alias
Name
Torsion Dystonia 4
Role
alias
Name
Torsion Dystonia 6
Role
alias
Name
Torsion Dystonia With Onset In Infancy
Role
alias
Name
Vanishing White Matter Leukodystrophy With Ovarian Failure
Role
alias
Name
WAARDENBURG-SHAH SYNDROME, NEUROLOGIC VARIANT
Role
alias
Name
WS4 Plus
Role
alias
Name
X-Linked Dystonia-Parkinsonism
Role
alias
Name
XDP
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001071HP:0001304HP:0001332HP:0002268HP:0002352HP:0002451HP:0004305HP:0004373HP:0012164HP:0100248HP:0100660
Herb
HBDIS000174HBDIS000852HBDIS000863HBDIS000864HBDIS001142HBDIS001732HBDIS003677HBDIS003871HBDIS003872HBDIS004353HBDIS004525HBDIS004588HBDIS004760HBDIS006225HBDIS006226HBDIS006227HBDIS006228HBDIS006229HBDIS006230HBDIS006233HBDIS006468HBDIS008435HBDIS008677HBDIS008680HBDIS008681HBDIS008682HBDIS008685HBDIS009249HBDIS009528HBDIS010896HBDIS011159HBDIS011220HBDIS011221HBDIS011222HBDIS011403HBDIS011404HBDIS011405HBDIS011406HBDIS011407HBDIS011562HBDIS011563HBDIS011564HBDIS011565HBDIS011566HBDIS011567HBDIS011568HBDIS011569HBDIS011570HBDIS011571HBDIS011572HBDIS011573HBDIS014213HBDIS015254HBDIS015475HBDIS015558HBDIS015730HBDIS015961HBDIS016023HBDIS016426HBDIS016668HBDIS016704HBDIS016840HBDIS016842HBDIS016843HBDIS017127HBDIS017378HBDIS017408HBDIS017601HBDIS017774HBDIS018108HBDIS018441HBDIS018471HBDIS018630HBDIS018860HBDIS019402HBDIS019436HBDIS019484HBDIS019511HBDIS019653HBDIS020076HBDIS020316HBDIS020928HBDIS020956HBDIS021655HBDIS021857HBDIS022779HBDIS025740HBDIS026409HBDIS027809HBDIS028849HBDIS029133HBDIS029357HBDIS029588
Me Sh
D000795D004421D004422D005776D007966D017825D020821D052536D052537D052556D056784
Omim
128100128101128230128235159900169500221770230800230900231000249900250100257200257220260600271900301500314250602554602629603896607616607625608013608804609136610539612067612233612438615073616140616411
Umls
C0002986C0013384C0013423C0017205C0023522C0206307C0220756C0268242C0268243C0268247C0268248C0268250C0268251C0268262C0268263C0270612C0393593C0751276C0751278C0751279C0751664C0751666C0751667C1720864C1836727C1837355C1839130C1842704C1843264C1843366C1843418C1850363C1851943C1851945C1855255C1857316C1860315C1864651C1868512C1868681C1961835C1970820C2675644C2675646C2676244C2676281C2677109C2713319C2931585C2936785C3164344C3179455C3542499C3554447C3888090C4015323C4225336
Icd10
E75.2E75.22E75.242E75.243E75.25E75.29G24G24.1G24.2G24.9
Med Dra
10016016
Sym Map
SMDE00009SMDE00042SMDE00083SMDE00188SMDE00202SMDE00250SMDE00285SMDE00302SMDE00341SMDE00570SMDE00662SMDE00719SMDE01054SMDE01229SMDE01304SMDE02179SMDE02604SMDE02628SMDE02811SMDE02822SMDE02833SMDE03027SMDE03164SMDE03237SMDE03367SMDE03444SMDE03487SMDE03904SMDE04072SMDE04132SMDE04289SMDE04407SMDE04536SMDE04990SMDE05765SMDE06060SMDE06709SMDE06710SMDE06976SMDE08090SMDE08107SMDE08108SMDE08109SMDE08110SMDE08111SMDE08597SMDE08966SMDE08970SMDE10412SMDE10413SMDE10415SMDE10937SMDE10938SMDE10939SMDE11480SMDE11481SMDE11483SMDE11484SMDE11485SMDE11798SMDE12513SMDE14368
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0002986C0013384C0013421C0013423C0017205C0023522C0152115C0154674C0154675C0206307C0220756C0221169C0232766C0268242C0268243C0268247C0268248C0268250C0268251C0268262C0270612C0348489C0393588C0393593C0393598C0393601C0393610C0427086C0454606C0743332C0751093C0751276C0751278C0751279C0751663C0751664C0751665C0751666C0751667C0752196C0752197C0752198C0752199C0752200C0752201C0752202C0752203C0752205C0752206C0752207C0752208C1414216C1834570C1836727C1837355C1839130C1842704C1843264C1843366C1847967C1850053C1850363C1851920C1851943C1851945C1855255C1857093C1857316C1858991C1860315C1864651C1868512C1868681C1961835C1970820C2675646C2676244C2676281C2677109C2677567C2713319C2875058C2931585C3164344C3179455C3281236C3542499C3554447C3888090C4015323C4225336C4316810C4721893
Orphanet
139406163746207225627703149113149183243335857725977260772618521299027
Umls Sty
T047T048T184
Hpo Class
HP:0000707HP:0001574HP:0001626
Me Sh Class
C01C05C06C08C09C10C13C14C15C16C17C18C19C20C23
Etcm Disease
Canavan DiseaseDystonia 1, Torsion, Autosomal DominantDystonia 12Dystonia 21Dystonia 25Dystonia 27Dystonia 3, Torsion, X-LinkedEarly-Onset Generalized Limb-Onset DystoniaFabry DiseaseGaucher Disease, Perinatal LethalLeukodystrophy, Demyelinating, Adult-Onset, Autosomal DominantLeukodystrophy, Hypomyelinating, 2Leukodystrophy, Hypomyelinating, 4Leukodystrophy, Hypomyelinating, 6Leukodystrophy, Hypomyelinating, 9Metachromatic LeukodystrophyMultiple Sulfatase Deficiency
Tcmbank Disease
10765113221149411534118111205212699128871314213313133501335313657142751430914356145841469115820159791602416216215164170251752817590178661788917906180671815618979193481944019734198219833199552041120625208082098021081211782128321409218022554227252372237352416024243248732546125963269472749027579277232863428964291029117296923014830375305263121831349320373205632063438648594972529354765327053715072317669792484378790884589608979098953095779980
Itcmdb Generated
ITX-DISEASE-187F057B9187ITX-DISEASE-197E47CFA30EITX-DISEASE-1F220C7133C9ITX-DISEASE-237DBD1C15DCITX-DISEASE-30CC0CED3B6EITX-DISEASE-485CB7DCB60EITX-DISEASE-54FE6FDD3337ITX-DISEASE-5F4DF833E8CEITX-DISEASE-6002C5959916ITX-DISEASE-61A625620672ITX-DISEASE-7F511E6220BDITX-DISEASE-81D616E32DC8ITX-DISEASE-84D27EDC2790ITX-DISEASE-8DFFB39659D0ITX-DISEASE-976FDC00A2A7ITX-DISEASE-98578E479463ITX-DISEASE-9FC14BFBB51CITX-DISEASE-AB3517E34C7CITX-DISEASE-B89E9950A59BITX-DISEASE-BA1C7528600AITX-DISEASE-BB92E6C8579EITX-DISEASE-BF51A045C471ITX-DISEASE-C248DDF99BEFITX-DISEASE-E0959572DF40ITX-DISEASE-E62BB5E2C32DITX-DISEASE-E89EC31976FDITX-DISEASE-EA8365C19DC7ITX-DISEASE-F0211048C9DDITX-DISEASE-F4E994CAFA77ITX-DISEASE-F6E316D1E0D2ITX-DISEASE-FD920ED2B18C
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
01
Page Title
Disease Canavan Disease Details pageDisease Dystonia 1, Torsion, Autosomal Dominant Details pageDisease Dystonia 12 Details pageDisease Dystonia 21 Details pageDisease Dystonia 25 Details pageDisease Dystonia 27 Details pageDisease Dystonia 3, Torsion, X-Linked Details pageDisease Early-Onset Generalized Limb-Onset Dystonia Details pageDisease Fabry Disease Details pageDisease Gaucher Disease, Perinatal Lethal Details pageDisease Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant Details pageDisease Leukodystrophy, Hypomyelinating, 2 Details pageDisease Leukodystrophy, Hypomyelinating, 4 Details pageDisease Leukodystrophy, Hypomyelinating, 6 Details pageDisease Leukodystrophy, Hypomyelinating, 9 Details pageDisease Metachromatic Leukodystrophy Details pageDisease Multiple Sulfatase Deficiency Details page
Do Class Name
disease of anatomical entitydisease of metabolism; genetic diseasedisease of metabolism; genetic disease; disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
diseasegroupphenotype
Hpo Class Name
Abnormality of the integument; Abnormality of the cardiovascular systemAbnormality of the nervous system
Link Disease Id
2628.0719.0
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity; disease of metabolismgenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of the integument; Abnormality of the cardiovascular systemAbnormality of the nervous system
Umls Disease Type
Disease or SyndromeMental or Behavioral DysfunctionSign or Symptom
Basic Information
Disease Name
Canavan Disease
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Dystonia 1, Torsion, Autosomal Dominant
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Disease Name
Dystonia 12
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases
Disease Name
Dystonia 21
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases
Disease Name
Dystonia 25
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases
Disease Name
Dystonia 27
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Muscle diseases;Neuronal diseases
Disease Name
Dystonia 3, Torsion, X-Linked
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases;Oral diseases
Disease Name
Early-Onset Generalized Limb-Onset Dystonia
Global Category
Rare diseases
Anatomical Category
Muscle diseases;Neuronal diseases
Disease Name
Fabry Disease
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Eye diseases;Nephrological diseases;Neuronal diseases;Skin diseases
Disease Name
Gaucher Disease, Perinatal Lethal
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Immune diseases;Liver diseases;Neuronal diseases;Skin diseases
Disease Name
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Leukodystrophy, Hypomyelinating, 2
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Leukodystrophy, Hypomyelinating, 4
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Leukodystrophy, Hypomyelinating, 6
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Leukodystrophy, Hypomyelinating, 9
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Metachromatic Leukodystrophy
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Multiple Sulfatase Deficiency
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Bone diseases;Eye diseases;Neuronal diseases;Skin diseases
Disease Definition
Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare slowly progressive neurological disorder involving centralnervous systemdemyelination, leading to autonomic dysfunction,ataxia and mild cEarly onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses.Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascularFarber disease is a rare sphingolipid disorder characterized by a spectrum of clinical signs ranging from the classical triad of painful and progressively deformed joints, subcutaneous nodules, and prGaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with aGaucher disease type 3 is the subacute neurological form of Gaucher disease (GD; see this term) characterized by progressive encephalopathy and associated with the systemic manifestations (organomegalMSH2017_2016_08_12:A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)|HPO2016_07_04:Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body. [HPO:probinson]MSH2017_2016_08_12:An allelic disorder of TYPE A NIEMANN-PICK DISEASE, a late-onset form. It is also caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE but clinical signs involve only visceral organs (non-neuropathic type).MSH2017_2016_08_12:The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.Mild Canavan disease (CD) is a neurodegenerative disorder characterized by mild speech delay or motor development.Multiple sulfatase deficiency (MSD) is a very rare and fatal lysosomal storage disease characterized by a clinical phenotype that combines the features of different sulfatase deficiencies (whether lysNCI2016_02D:A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes, resulting in deterioration of central nervous system's white matter. Usually, there are no signs and symptoms of the disorder at birth. During early childhood, affected individuals develop spasticity and ataxia which may be associated with deterioration of the metal function. Examination of the brain at autopsy reveals normal gray matter while the white matter is soft and gelatinous with numerous small cavities.NCI2016_02D:An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck.NCI2016_02D:An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.|MSH2017_2016_08_12:An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.|CSP2006:autosomal recessive lysosomal storage disease caused by a deficiency of cerebroside sulfatase leading to an accumulation of cerebroside sulfate in the nervous system and other organs.NCI2016_02D:An autosomal recessive inherited lysosomal storage disease caused by mutations in the NPC1 and NPC2 genes. It is characterized by progressive neurologic deterioration manifested with ataxia, dementia, seizures, and dystonia. Other signs and symptoms include hepatosplenomegaly, jaundice, and respiratory failure.|MSH2017_2016_08_12:An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.NCI2016_02D:An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.|MSH2017_2016_08_12:An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.|MEDLINEPLUS_20151021:<p>Gaucher disease is a rare, inherited disorder in which you do not have enough of an enzyme called glucocerebrosidase. This causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. This prevents these organs from working properly.</p> <p>There are three types:</p> <ul> <li>Type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. It does not affect the brain. It can occur at any age.</li> <li>Type 2, which causes severe brain damage, appears in infants. Most children who have it die by age 2.</li> <li>In type 3, there may be liver and spleen enlargement. The brain is gradually affected. It usually starts in childhood or adolescence.</li> </ul> <p>Gaucher disease has no cure. Treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. There is no good treatment for the brain damage of types 2 and 3.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|LNC256:Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, lung disease, and bone abnormalities. The severe types of the disease also involve the central nervous system, causing neurological problems such as abnormal eye movements, seizures, and brain damage. Gaucher disease results from mutations in the GBA gene; it has an autosomal recessive pattern of inheritance.|CSP2006:autosomal recessive disorder caused by deficiency of the enzyme glucocerebrosidase featuring the pathological storage of glycosylceramide in mononuclear phagocytes; the most common subtype is the non-neuronopathic form, a slowly progressive condition characterized by hepatosplenomegaly and skeletal deformities; the neuronopathic forms are divided into infantile and juvenile forms; the infantile form presents at 4-5 months of age with anemia, loss of cognitive gains, neck retraction, dysphagia, and hepatosplenomegaly; the juvenile form features a slowly progressive loss of intellect, hepatosplenomegaly, ataxia, myoclonic seizures, and spasticity; the neuronopathic forms are characterized by neuronal loss with neuronophagia, and accumulation of glucocerebroside in neurons.NCI2016_CTCAE_1602D:A disorder characterized by diffuse reactive astrocytosis with multiple areas of necrotic foci without inflammation.|NCI2016_02D:White matter changes first described in children with leukemia, associated with radiation and chemotherapy injury, often associated with methotrexate; pathologically characterised by diffuse reactive astrocytosis with multiple areas of necrotic foci without inflammation.(On-line Medical Dictionary)|MSH2017_2016_08_12:Any of various diseases affecting the white matter of the central nervous system.|HPO2016_07_04:This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells. [HPO:probinson]NCI2016_NICHD_1602D:A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.|NCI2016_02D:A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.|MSH2017_2016_08_12:Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.|MEDLINEPLUS_20151021:<p>Dystonia is a <a href='https://www.nlm.nih.gov/medlineplus/movementdisorders.html'>movement disorder</a> that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful.</p> <p>Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include <a href='https://www.nlm.nih.gov/medlineplus/tremor.html'>tremors</a>, <a href='https://www.nlm.nih.gov/medlineplus/voicedisorders.html'>voice problems</a> or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild.</p> <p>Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, <a href='https://www.nlm.nih.gov/medlineplus/botox.html'>Botox</a> injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|CSP2006:syndrome dominated by involuntary, sustained or spasmodic, patterned, and repetitive muscle contractions; frequently causing twisting, flexing or extending, and squeezing movements or abnormal postures.|CHV2011_02:inherited condition that disables body movement due to abnormal muscle contraction and twisting distorted postures.|CHV2011_02:inherited condition that disables body movement due to abnormal muscle contraction and twisting distorted postures.|CHV2011_02:inherited condition that disables body movement due to abnormal muscle contraction and twisting distorted postures.NCI2016_NICHD_1602D:Spongy degeneration of central nervous system, spongy degeneration of white matter a rare hereditary form of leukodystrophy of early onset in which widespread demyelination and vacuolation of cerebral white matter gives it a spongy appearance; there is mental retardation, megalocephaly, atony of neck muscles, limb spasticity, and blindness, with death in infancy.|NCI2016_02D:A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head.|MSH2017_2016_08_12:A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71)Nasu-Hakola disease (NHD), also referred to as polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), is a rare inherited leukodystrophy characterized by progressive prePSY2004:Abnormal involuntary motor processes that occur due to underlying disease processes.|NCI2016_NICHD_1602D:Impairment of voluntary muscle control, characterized by spasmodic or repetitive motions or lack of coordination.|NCI2016_FDA_1602D:Difficulty moving; distortion or impairment of voluntary movement, as in tic, spasm, or myoclonus.|NCI2016_02D:Abnormality or impairment of voluntary movement.|MSH2017_2016_08_12:Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES.|HPO2016_07_04:A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements. [HPO:sdoelken]|CHV2011_02:a disease characterized by abnormal involuntary movements of musclesSNOMEDCT_US_2016_09_01:Abrupt onset of dystonia with parkinsonism over a period of hours to days.Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.Waardenburg-Shah syndrome, neurologic variant, also referred to as Peripheral demyelinating neuropathy, Central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease (PCWH), is
Me Sh Disease Class
Cardiovascular Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms; Otorhinolaryngologic Diseases; Respiratory Tract DiseasesDigestive System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesImmune System Diseases; Nervous System DiseasesInfections; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Skin and Connective Tissue Diseases; Musculoskeletal DiseasesNervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic DiseasesNervous System Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsNutritional and Metabolic Diseases
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Infections; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Hemic and Lymphatic DiseasesFemale Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Endocrine System DiseasesImmune System Diseases; Nervous System DiseasesNervous System DiseasesNutritional and Metabolic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeMental or Behavioral DysfunctionSign or Symptom