ITCMDBv1
DiseaseID 9788

心脏传导阻滞

disease

Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestation

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Disease: 1Experiment: 12Formula: 24Herb: 12Symptom: 12Target: 25Links: 85
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Record Fields

Scalar fields from the final disease record.

Disease Id
9788
Core Entity Id
66907
Source Entity Count
1
Preferred Name
Heart Block
Name Cn
心脏传导阻滞
Name Pinyin
Xin Zang Chuan Dao Zu Zhi
Name En
Heart Block
Name Latin
Bilingual Status
complete
Disease Type
disease
Umls Disease Type
Disease or Syndrome
Disgenet Type
disease
Mesh Class
Cardiovascular DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesCardiovascular Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEye DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; NeoplasmsMental Disorders; Infections; Nervous System DiseasesMental Disorders; Infections; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Nervous System DiseasesNeoplasmsNervous 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; Musculoskeletal DiseasesNervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms
Do Class
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of metabolismsyndrome
Hpo Class
Abnormality of metabolism/homeostasis; Abnormal cellular phenotype; Abnormality of the genitourinary systemAbnormality of the cardiovascular systemAbnormality of the nervous systemNeoplasm; Abnormality of the genitourinary system
Mesh Class Name
Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesInfections; Nervous System Diseases; Mental DisordersNeoplasmsNeoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesNervous System DiseasesNervous System Diseases; Mental DisordersNutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases; Mental DisordersPathological Conditions, Signs and Symptoms; Nervous System Diseases
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotypeAbnormality of the cardiovascular systemAbnormality of the genitourinary system; NeoplasmAbnormality of the nervous system
Do Class Name
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of metabolism; genetic diseasegenetic diseasegenetic disease; disease of anatomical entitysyndrome
Disease Definition
Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestation
Version
v1
Suppressed
No

Names

Preferred names, aliases, and source labels retained in the final schema.

Name
Heart Block
Role
preferred
Name
Alzheimer Disease
Role
preferred
Name
Alzheimer Disease 2
Role
preferred
Name
Alzheimer'S Disease
Role
preferred
Name
Atrioventricular Block
Role
preferred
Name
Brugada Syndrome (Disorder)
Role
preferred
Name
Brugada Syndrome 1
Role
preferred
Name
Brugada Syndrome 2
Role
preferred
Name
Brugada Syndrome 3
Role
preferred
Name
Brugada Syndrome 4
Role
preferred
Name
Brugada Syndrome 5
Role
preferred
Name
Brugada Syndrome 6
Role
preferred
Name
Brugada Syndrome 7
Role
preferred
Name
Brugada Syndrome 8
Role
preferred
Name
Brugada Syndrome 9
Role
preferred
Name
Cardiac Conduction Defect, Nonprogressive
Role
preferred
Name
Congenital Long Qt Syndrome
Role
preferred
Name
Creutzfeldt-Jakob Disease
Role
preferred
Name
Creutzfeldt-Jakob Disease, Familial
Role
preferred
Name
Creutzfeldt-Jakob Disease, Heidenhain Variant
Role
preferred
Name
Creutzfeldt-Jakob Disease, Sporadic
Role
preferred
Name
Encephalopathy, Subacute Necrotizing, Infantile
Role
preferred
Name
Encephalopathy, Subacute Necrotizing, Juvenile
Role
preferred
Name
Familial Alzheimer Disease (Fad)
Role
preferred
Name
Familial Periodic Paralysis
Role
preferred
Name
Familial Progressive Cardiac Conduction Defect
Role
preferred
Name
Familial Short Qt Syndrome
Role
preferred
Name
Heart Block, Nonprogressive
Role
preferred
Name
Hypokalemic Periodic Paralysis, Type 1
Role
preferred
Name
Hypokalemic Periodic Paralysis, Type 2
Role
preferred
Name
Leber Optic Atrophy And Dystonia
Role
preferred
Name
Leigh Disease
Role
preferred
Name
Leigh Syndrome
Role
preferred
Name
Leigh Syndrome Due To Mitochondrial Complex I Deficiency
Role
preferred
Name
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency
Role
preferred
Name
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency
Role
preferred
Name
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency
Role
preferred
Name
Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Role
preferred
Name
Long Qt Syndrome
Role
preferred
Name
Long Qt Syndrome 1
Role
preferred
Name
Long Qt Syndrome 10
Role
preferred
Name
Long Qt Syndrome 11
Role
preferred
Name
Long Qt Syndrome 12
Role
preferred
Name
Long Qt Syndrome 13
Role
preferred
Name
Long Qt Syndrome 14
Role
preferred
Name
Long Qt Syndrome 15
Role
preferred
Name
Long Qt Syndrome 2
Role
preferred
Name
Long Qt Syndrome 3
Role
preferred
Name
Long Qt Syndrome 5
Role
preferred
Name
Long Qt Syndrome 6
Role
preferred
Name
Mitochondrial Encephalomyopathies
Role
preferred
Name
Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Role
preferred
Name
New Variant Creutzfeldt-Jakob Disease
Role
preferred
Name
Oxyphilic Adenoma
Role
preferred
Name
Parkinson Disease
Role
preferred
Name
Parkinson Disease 19A, Juvenile-Onset
Role
preferred
Name
Parkinson Disease 23, Autosomal Recessive Early-Onset
Role
preferred
Name
Paroxysmal Familial Ventricular Fibrillation
Role
preferred
Name
Progressive Familial Heart Block, Type Ia
Role
preferred
Name
Progressive Familial Heart Block, Type Ib
Role
preferred
Name
Short Qt Syndrome 1
Role
preferred
Name
Short Qt Syndrome 3
Role
preferred
Name
Sick Sinus Syndrome
Role
preferred
Name
Sudden Cardiac Death
Role
preferred
Name
3-Methylglutaconic Aciduria
Role
preferred
Name
ALZHEIMER DISEASE 10
Role
preferred
Name
ALZHEIMER DISEASE 5
Role
preferred
Name
ALZHEIMER DISEASE, FAMILIAL, 1
Role
preferred
Name
ATRIAL FIBRILLATION, FAMILIAL, 17
Role
preferred
Name
ATRIAL STANDSTILL 1, DIGENIC
Role
preferred
Name
Acute Confusional Senile Dementia
Role
preferred
Name
Age Related Macular Degeneration
Role
preferred
Name
Age-Related Macular Degeneration
Role
preferred
Name
Alzheimer Disease 12
Role
preferred
Name
Alzheimer Disease 14
Role
preferred
Name
Alzheimer Disease 6, Late-Onset
Role
preferred
Name
Alzheimer Disease 7
Role
preferred
Name
Alzheimer Disease, Early Onset
Role
preferred
Name
Alzheimer Disease, Late Onset
Role
preferred
Name
Alzheimer'S Disease, Focal Onset
Role
preferred
Name
Atrial Fibrillation, Familial, 16
Role
preferred
Name
Atypical Juvenile Parkinsonism
Role
preferred
Name
Auriculo-Ventricular Dissociation
Role
preferred
Name
Bradycardia-Tachycardia Syndrome
Role
preferred
Name
Brain Atrophy
Role
preferred
Name
Brugada ECG Pattern
Role
preferred
Name
CARDIAC CONDUCTION DEFECT, NONSPECIFIC (disorder)
Role
preferred
Name
Cardiac Conduction Defects
Role
preferred
Name
Cerebral Atrophy
Role
preferred
Name
Conduction Disorder Of The Heart
Role
preferred
Name
Cyclical Vomiting Syndrome (Disorder)
Role
preferred
Name
Degenerative Brain Disorder
Role
preferred
Name
Diabetes Mellitus, Noninsulin-Dependent, Maternally Transmitted
Role
preferred
Name
Early-Onset Parkinsonism-Intellectual Disability Syndrome
Role
preferred
Name
Ectopic Rhythm
Role
preferred
Name
Hemiparkinsonism
Role
preferred
Name
Hereditary Bundle Branch System Defect
Role
preferred
Name
Hurthle Cell Tumor
Role
preferred
Name
Hyperkalemic Periodic Paralysis
Role
preferred
Name
Hyperkalemic Periodic Paralysis Type 2
Role
preferred
Name
Hypokalemic Periodic Paralysis
Role
preferred
Name
Hypokalemic Periodic Paralysis Type 1
Role
preferred
Name
Idiopathic Parkinsonism Or Parkinson'S Disease
Role
preferred
Name
LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO
Role
preferred
Name
LONG QT SYNDROME 1/2, DIGENIC (disorder)
Role
preferred
Name
LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
Role
preferred
Name
LONG QT SYNDROME 2/3, DIGENIC
Role
preferred
Name
LONG QT SYNDROME 2/9, DIGENIC
Role
preferred
Name
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO (finding)
Role
preferred
Name
LONG QT SYNDROME 3/6, DIGENIC Disorder
Role
preferred
Name
LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO
Role
preferred
Name
LONG QT SYNDROME 9 (disorder)
Role
preferred
Name
Mitochondrial Complex I Deficiency, Mitochondrial Type 3 (Finding)
Role
preferred
Name
Muscle Stiffness, Painful
Role
preferred
Name
Nodal Rhythm Disorder
Role
preferred
Name
Normokalemic Periodic Paralysis
Role
preferred
Name
Normokalemic Periodic Paralysis, Potassium-Sensitive
Role
preferred
Name
Oncocytoma, Renal
Role
preferred
Name
Other Specified Cardiac Arrhythmias
Role
preferred
Name
Other Specified Conduction Disorders
Role
preferred
Name
PARKINSON DISEASE 19B, EARLY-ONSET
Role
preferred
Name
PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY (disorder)
Role
preferred
Name
PRESENILE AND SENILE DEMENTIA
Role
preferred
Name
Parkinsonism Or Parkinson'S Disease Nos
Role
preferred
Name
Periodic Paralysis (Finding)
Role
preferred
Name
Presenile Dementia
Role
preferred
Name
Primary Parkinsonism Or Parkinson'S Disease
Role
preferred
Name
Progressive Familial Heart Block, Type II
Role
preferred
Name
Romano-Ward Syndrome
Role
preferred
Name
SHORT QT SYNDROME 2 (disorder)
Role
preferred
Name
SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE
Role
preferred
Name
Sick Sinus Syndrome 2, Autosomal Dominant
Role
preferred
Name
Sinus Node Dysfunction (Disorder)
Role
preferred
Name
Striatal Necrosis, Bilateral, With Dystonia
Role
preferred
Name
Sudden Cardiac Arrest
Role
preferred
Name
Sudden Infant Death Syndrome
Role
preferred
Name
THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
Role
preferred
Name
Thyrotoxic Periodic Paralysis
Role
preferred
Name
Timothy Syndrome
Role
preferred
Name
3-@Methylglutaconic Aciduria
Role
alias
Name
AD
Role
alias
Name
AD1
Role
alias
Name
AD2
Role
alias
Name
ALZHEIMER DISEASE 2, LATE-ONSET
Role
alias
Name
ALZHEIMER DISEASE ASSOCIATED WITH APOE4
Role
alias
Name
ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY
Role
alias
Name
ALZHEIMER DISEASE, PROTECTION AGAINST
Role
alias
Name
ATFB16
Role
alias
Name
ATFB17
Role
alias
Name
Adenoma, Oxyphilic
Role
alias
Name
Alzheimer Disease 6
Role
alias
Name
Alzheimer Disease Type 2
Role
alias
Name
Alzheimer'S Disease 1
Role
alias
Name
Alzheimer'S Disease 10
Role
alias
Name
Alzheimer'S Disease 11
Role
alias
Name
Alzheimer'S Disease 12
Role
alias
Name
Alzheimer'S Disease 13
Role
alias
Name
Alzheimer'S Disease 14
Role
alias
Name
Alzheimer'S Disease 15
Role
alias
Name
Alzheimer'S Disease 2
Role
alias
Name
Alzheimer'S Disease 5
Role
alias
Name
Alzheimer'S Disease 6
Role
alias
Name
Alzheimer'S Disease 7
Role
alias
Name
Alzheimer'S Disease 8
Role
alias
Name
Alzheimer'S Disease With Early Onset
Role
alias
Name
Alzheimer'S Disease With Late Onset
Role
alias
Name
Alzheimer'S Disease, Unspecified
Role
alias
Name
Atrioventricular Dissociation
Role
alias
Name
BRGDA1
Role
alias
Name
BRGDA2
Role
alias
Name
BRGDA3
Role
alias
Name
BRGDA4
Role
alias
Name
BRGDA5
Role
alias
Name
BRGDA6
Role
alias
Name
BRGDA7
Role
alias
Name
BRGDA8
Role
alias
Name
BRGDA9
Role
alias
Name
BUNDLE BRANCH BLOCK
Role
alias
Name
Brain Degeneration
Role
alias
Name
Brain Wasting
Role
alias
Name
Brugada Syndrome
Role
alias
Name
CARDIAC CONDUCTION DEFECT, NONSPECIFIC
Role
alias
Name
CARDIAC CONDUCTION DEFECT, PROGRESSIVE
Role
alias
Name
CJD
Role
alias
Name
CREUTZFELDT-JAKOB DISEASE, VARIANT
Role
alias
Name
Cardiac Conduction Defect
Role
alias
Name
Cardiac Conduction System Disease
Role
alias
Name
Cerebral Degeneration
Role
alias
Name
Conduction Disorder, Unspecified
Role
alias
Name
Creutzfeldt-Jakob Syndrome
Role
alias
Name
Cyclic Vomiting Syndrome
Role
alias
Name
Cyclical Vomiting
Role
alias
Name
Death, Sudden, Cardiac
Role
alias
Name
Degeneration of Cerebrum
Role
alias
Name
Degeneration, Age-Related Macular
Role
alias
Name
Dementia In Alzheimer'S Disease With Early Onset
Role
alias
Name
Dementia In Alzheimer'S Disease With Late Onset
Role
alias
Name
Dementia, Presenile
Role
alias
Name
Dystonia, Familial, With Visual Failure And Striatal Lucencies
Role
alias
Name
Early-Onset Parkinson'S Disease
Role
alias
Name
Episodic Paralysis
Role
alias
Name
Familial Cyclic Vomiting Syndrome
Role
alias
Name
Familial Lenègre Disease
Role
alias
Name
Familial Lev Disease
Role
alias
Name
Familial Lev-Lenègre Disease
Role
alias
Name
Familial PCCD
Role
alias
Name
Familial Progressive Heart Block
Role
alias
Name
HBBD
Role
alias
Name
HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I
Role
alias
Name
HOKPP
Role
alias
Name
HOKPP1
Role
alias
Name
HOKPP2
Role
alias
Name
Hereditary Bundle Branch Defect
Role
alias
Name
Interruption of Electrical Communication Between Upper And Lower Chambers of Heart
Role
alias
Name
Jakob Creutzfeldt Disease
Role
alias
Name
LENEGRE-LEV DISEASE
Role
alias
Name
LONG QT SYNDROME 1/2, DIGENIC
Role
alias
Name
LONG QT SYNDROME 2/5, DIGENIC
Role
alias
Name
LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
Role
alias
Name
LONG QT SYNDROME 3/6, DIGENIC
Role
alias
Name
LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO
Role
alias
Name
LQT1
Role
alias
Name
LQT1/2, DIGENIC
Role
alias
Name
LQT10
Role
alias
Name
LQT11
Role
alias
Name
LQT12
Role
alias
Name
LQT13
Role
alias
Name
LQT14
Role
alias
Name
LQT15
Role
alias
Name
LQT2
Role
alias
Name
LQT2/3, DIGENIC
Role
alias
Name
LQT2/5, DIGENIC
Role
alias
Name
LQT2/9, DIGENIC
Role
alias
Name
LQT3
Role
alias
Name
LQT3/6, DIGENIC
Role
alias
Name
LQT5
Role
alias
Name
LQT6
Role
alias
Name
LS
Role
alias
Name
Late-Onset Form of Familial Alzheimer Disease
Role
alias
Name
Long Qt Syndrome 2-9
Role
alias
Name
Long Qt Syndrome 9
Role
alias
Name
Macular Degeneration
Role
alias
Name
Maculopathy, Age-Related
Role
alias
Name
Marsden Syndrome
Role
alias
Name
Mitochondrial Complex I Deficiency, Mitochondrial Type 3
Role
alias
Name
Mitochondrial Encephalomyopathy
Role
alias
Name
Neuroaxonal Degeneration In The Brain
Role
alias
Name
Oncocytoma
Role
alias
Name
PARK19, FORMERLY
Role
alias
Name
PARK19A
Role
alias
Name
PARK19B
Role
alias
Name
PARK23
Role
alias
Name
PCCD
Role
alias
Name
PFHB1A
Role
alias
Name
PFHB1B
Role
alias
Name
PFHBI
Role
alias
Name
PFHBIA
Role
alias
Name
PFHBIB
Role
alias
Name
Paralyses, Familial Periodic
Role
alias
Name
Paralysis, Hyperkalemic Periodic
Role
alias
Name
Parkinson Disease 4, Autosomal Dominant
Role
alias
Name
Parkinson Disease 4, Autosomal Dominant Lewy Body
Role
alias
Name
Parkinson'S Disease
Role
alias
Name
Parkinson'S Disease 19A
Role
alias
Name
Parkinson'S Disease 23
Role
alias
Name
Parkinson'S Disease 4
Role
alias
Name
Paroxysmal Ventricular Fibrillation
Role
alias
Name
Periodic Hyperkalemic Paralysis
Role
alias
Name
Periodic Paralysis
Role
alias
Name
Periodic Paralysis Hypokalemic
Role
alias
Name
Premature Sudden Cardiac Death
Role
alias
Name
Progressive Familial Heart Block
Role
alias
Name
Progressive Familial Heart Block Type Ia
Role
alias
Name
Progressive Familial Heart Block Type Ib
Role
alias
Name
RIGHT BUNDLE BRANCH BLOCK, ST SEGMENT ELEVATION, AND SUDDEN DEATH SYNDROME
Role
alias
Name
RWS
Role
alias
Name
Renal Oncocytoma
Role
alias
Name
SCJD
Role
alias
Name
SNE
Role
alias
Name
SQT1
Role
alias
Name
SQT3
Role
alias
Name
SQTS
Role
alias
Name
SUDDEN UNEXPLAINED NOCTURNAL DEATH SYNDROME
Role
alias
Name
SUNDS
Role
alias
Name
Short Qt Syndrome
Role
alias
Name
Short Qt Syndrome 2
Role
alias
Name
Sick Sinus Syndrome 1
Role
alias
Name
Sick Sinus Syndrome 2
Role
alias
Name
Sick Sinus Syndrome 2 With Or Without Cardiac Noncompaction And/Or Ascending Aorta Dilation
Role
alias
Name
Sinoatrial Node Disease
Role
alias
Name
Sinus Node Disease
Role
alias
Name
Sinus Node Dysfunction
Role
alias
Name
Sudden Infant Death
Role
alias
Name
Sudden Unexplained Death Syndrome
Role
alias
Name
VCJD
Role
alias
Name
VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL
Role
alias
Name
WARD-ROMANO SYNDROME
Role
alias
Name
WRS
Role
alias

Cross References

Trusted external identifiers retained for this final record.

Hpo
HP:0001645HP:0001678HP:0002059HP:0002511HP:0003535HP:0003768HP:0007215HP:0007313HP:0011704HP:0011709HP:0011798HP:0012444HP:0012722
Herb
HBDIS000117HBDIS000277HBDIS000281HBDIS000731HBDIS001260HBDIS001581HBDIS001675HBDIS001776HBDIS002296HBDIS002313HBDIS002653HBDIS002751HBDIS002873HBDIS003273HBDIS003683HBDIS003870HBDIS003975HBDIS004142HBDIS004567HBDIS005024HBDIS005159HBDIS005160HBDIS005420HBDIS005715HBDIS005716HBDIS006314HBDIS006315HBDIS006851HBDIS007835HBDIS008359HBDIS008438HBDIS008557HBDIS009288HBDIS009737HBDIS010076HBDIS011076HBDIS011077HBDIS011212HBDIS011217HBDIS011218HBDIS012236HBDIS012237HBDIS012238HBDIS012559HBDIS012715HBDIS012730HBDIS013160HBDIS014156HBDIS014158HBDIS014343HBDIS014539HBDIS014907HBDIS014924HBDIS015125HBDIS015223HBDIS015632HBDIS015684HBDIS015720HBDIS015885HBDIS016052HBDIS016728HBDIS016729HBDIS016730HBDIS016731HBDIS016879HBDIS016966HBDIS017019HBDIS017607HBDIS017920HBDIS017921HBDIS017996HBDIS017997HBDIS018130HBDIS018168HBDIS018169HBDIS018170HBDIS018247HBDIS018403HBDIS018438HBDIS018520HBDIS018793HBDIS018820HBDIS018834HBDIS019236HBDIS019562HBDIS019563HBDIS019566HBDIS019567HBDIS019568HBDIS019767HBDIS019822HBDIS019826HBDIS019908HBDIS020387HBDIS020670HBDIS020722HBDIS020723HBDIS021112HBDIS021113HBDIS021151HBDIS021189HBDIS021436HBDIS022020HBDIS022096HBDIS022377HBDIS022787HBDIS022995HBDIS023140HBDIS023307HBDIS025632HBDIS025744HBDIS026354HBDIS026450HBDIS026769HBDIS027251HBDIS027272HBDIS027310HBDIS028814HBDIS028818HBDIS028823HBDIS028922HBDIS029072HBDIS029168HBDIS029191HBDIS029192HBDIS029202HBDIS029268HBDIS029556HBDIS029601HBDIS029672HBDIS030100
Me Sh
D000075224D000544D006327D007562D007888D008133D008268D010245D010300D012804D013398D016757D017237D018249D020513D020514D029597D053840D054537
Omim
104300104310113900115080123400163800170400170500170600188580192500209600256000272120500001500007553000590005601005601144603830605543608567609620609621609622611777611818611819611820611875611876612838612955613119613120613123613345613485613688613693613695615528616247616249616399616840
Umls
C0002395C0004245C0011265C0018794C0022336C0023264C0023976C0030443C0030567C0035828C0037052C0038644C0085298C0152164C0162666C0238357C0238358C0242383C0264886C0268446C0276496C0340493C0376329C0751254C0751267C0751268C0796195C1141890C1142166C1510502C1541844C1832916C1838527C1838951C1839040C1843738C1850597C1850598C1850599C1850600C1852467C1859062C1861983C1861984C1863051C1863052C1863053C1865018C1865020C1867904C1868433C1879286C1969957C1970298C2673193C2678477C2678478C2678483C2678484C2748541C2748542C2750061C2751083C2751088C2751089C2751830C2930895C2931891C3150733C3150943C3150953C3150954C3150956C3276240C3276241C3277700C3279092C3279093C3549448C3697638C3714580C3809811C3888153C4013560C4013699C4015671C4015695C4225186C4225340C4310802
Icd10
A81.0A81.01A81.09F00.0F00.1G20G30G30.0G30.1G30.9G31.82G43.AG72.3H35.30I44.3I44.30I45.8I45.81I45.9I49.5I49.8R95
Med Dra
10043788
Sym Map
SMDE00158SMDE00228SMDE00253SMDE00257SMDE00289SMDE00460SMDE00510SMDE00691SMDE00760SMDE00764SMDE00794SMDE01150SMDE01299SMDE01311SMDE01348SMDE01502SMDE01518SMDE01532SMDE01664SMDE01823SMDE02088SMDE02284SMDE02365SMDE02653SMDE02831SMDE02993SMDE03299SMDE03371SMDE03415SMDE03744SMDE03965SMDE04133SMDE04211SMDE04291SMDE04368SMDE04416SMDE04811SMDE04925SMDE04950SMDE05188SMDE05631SMDE05751SMDE06149SMDE06658SMDE06762SMDE07410SMDE07469SMDE07627SMDE07628SMDE07629SMDE07688SMDE08235SMDE08236SMDE08623SMDE08647SMDE09251SMDE09252SMDE10347SMDE10360SMDE10362SMDE10363SMDE10364SMDE10365SMDE10366SMDE10513SMDE11041SMDE11329SMDE11475SMDE11800SMDE11957SMDE11970SMDE12423SMDE13144SMDE13722SMDE13725
Do Class
DOID:0014667DOID:14566DOID:225DOID:630DOID:7
Dis Ge Net
C0002395C0004245C0004331C0011265C0018794C0022336C0023264C0023976C0030443C0030567C0035828C0037052C0038644C0085298C0152164C0154671C0155708C0162666C0221047C0235946C0238357C0238358C0242383C0264886C0264893C0268445C0268446C0276496C0340493C0346255C0348626C0376329C0428908C0494463C0546126C0750900C0750901C0751254C0751267C0751268C0865474C0865475C0865476C0949541C1141890C1142166C1279412C1399226C1399358C1510502C1541844C1720824C1721096C1832916C1834144C1837845C1838527C1838818C1838951C1838954C1839040C1841658C1843738C1850597C1850598C1850599C1850600C1852467C1853555C1854182C1854187C1859062C1861983C1861984C1863051C1863052C1864828C1865018C1865019C1865020C1865868C1867904C1868433C1879286C1969957C1970144C1970209C1970298C2673193C2678477C2678478C2678483C2678484C2678485C2748541C2748542C2749982C2750061C2751083C2751088C2751089C2751830C2931891C3150733C3150943C3150953C3150956C3276240C3276241C3277700C3279093C3489447C3696376C3714580C3809811C3888153C4013560C4013699C4015671C4015695C4016652C4017627C4225186C4225340C4310802C4318382C4510873C4551584C4551647C4551804C4722144
Orphanet
23793914115108368168279102871
Umls Sty
T033T046T047T048T191
Hpo Class
HP:0000119HP:0000707HP:0001626HP:0001939HP:0002664HP:0025354
Me Sh Class
C01C04C05C10C11C12C13C14C16C18C23F03
Etcm Disease
Alzheimer DiseaseAlzheimer Disease 10Alzheimer Disease 2Alzheimer Disease 5Atypical Juvenile ParkinsonismBrugada Syndrome 1Brugada Syndrome 2Brugada Syndrome 3Brugada Syndrome 4Brugada Syndrome 5Brugada Syndrome 6Brugada Syndrome 7Brugada Syndrome 8Brugada Syndrome 9Creutzfeldt-Jakob DiseaseFamilial Short Qt SyndromeHyperkalemic Periodic ParalysisHypokalemic Periodic Paralysis, Type 1Hypokalemic Periodic Paralysis, Type 2Leber Optic Atrophy and DystoniaLeigh SyndromeLong Qt Syndrome 1Long Qt Syndrome 10Long Qt Syndrome 11Long Qt Syndrome 12Long Qt Syndrome 13Long Qt Syndrome 14Long Qt Syndrome 15Long Qt Syndrome 2Long Qt Syndrome 3Long Qt Syndrome 5Long Qt Syndrome 6
Tcmbank Disease
1058106071077411030111961142311487122291229412862133891358013885140451429914333143981441014422145541496215013151341522915817158641591416021635416398167701684916972170071785417944182041824018771187831881318955189661919344198282015520267204662047420506206692087921235213692165922107221352218622390224142242122675227472320323984242572447724742250182503625140251442536825478255472573925850260662626326336263572646826511269027222755027726277762783428312912429662298422997230700316143171632222322253248732513472247474845000546127627268207084754872873919093969584963896919784978699079925
Itcmdb Generated
ITX-DISEASE-058EB22CFDF6ITX-DISEASE-09EC8F17FC15ITX-DISEASE-0B8CC6A749DEITX-DISEASE-0D8F5D904DDFITX-DISEASE-0F019AC06487ITX-DISEASE-133870DB6B66ITX-DISEASE-13A73D986EA8ITX-DISEASE-17176A51C187ITX-DISEASE-1FD34B59790CITX-DISEASE-21B4F61AE561ITX-DISEASE-25F9D521022AITX-DISEASE-32D7C2CA726FITX-DISEASE-32F6A43970EFITX-DISEASE-34FD97F3E421ITX-DISEASE-36A4FF6D47D5ITX-DISEASE-389181F7D705ITX-DISEASE-4024D770EF70ITX-DISEASE-44317639F8C7ITX-DISEASE-470FC259C637ITX-DISEASE-4AC274AA521CITX-DISEASE-4DEEA529BC01ITX-DISEASE-53A7455D895BITX-DISEASE-54C7F1D75328ITX-DISEASE-563FB3674147ITX-DISEASE-5A00CE82018CITX-DISEASE-5CFACE372744ITX-DISEASE-6156CE2D4F09ITX-DISEASE-62B1F646B340ITX-DISEASE-671BB5240E72ITX-DISEASE-7E661D860EF0ITX-DISEASE-80E541F863D7ITX-DISEASE-8C46EEBDDA20ITX-DISEASE-A14CEAA0CF09ITX-DISEASE-A45711B957F8ITX-DISEASE-A69E0EC353A4ITX-DISEASE-A833BCA79444ITX-DISEASE-AD5FC4126FDFITX-DISEASE-B08978E6C28BITX-DISEASE-B69D5E54DC90ITX-DISEASE-BD5783DF548EITX-DISEASE-C8A4B774896DITX-DISEASE-CC83C9E6537BITX-DISEASE-CE7426C01ED8ITX-DISEASE-D13874D91E3CITX-DISEASE-D604934AD92AITX-DISEASE-D9F38CD9EA47ITX-DISEASE-DE052482D629ITX-DISEASE-E0B8F182432CITX-DISEASE-E53B24406B07ITX-DISEASE-EF8309E23234ITX-DISEASE-F0413977E912ITX-DISEASE-F17562822462ITX-DISEASE-F9D722DDD771ITX-DISEASE-FA238100FABB

Attributes

Merged source attributes and domain-specific metadata.

Version
v1v1,v2v2
Suppress
0
Page Title
Disease Alzheimer Disease 10 Details pageDisease Alzheimer Disease 2 Details pageDisease Alzheimer Disease 5 Details pageDisease Alzheimer Disease Details pageDisease Atypical Juvenile Parkinsonism Details pageDisease Brugada Syndrome 1 Details pageDisease Brugada Syndrome 2 Details pageDisease Brugada Syndrome 3 Details pageDisease Brugada Syndrome 4 Details pageDisease Brugada Syndrome 5 Details pageDisease Brugada Syndrome 6 Details pageDisease Brugada Syndrome 7 Details pageDisease Brugada Syndrome 8 Details pageDisease Brugada Syndrome 9 Details pageDisease Creutzfeldt-Jakob Disease Details pageDisease Familial Short Qt Syndrome Details pageDisease Hyperkalemic Periodic Paralysis Details pageDisease Hypokalemic Periodic Paralysis, Type 1 Details pageDisease Hypokalemic Periodic Paralysis, Type 2 Details pageDisease Leber Optic Atrophy and Dystonia Details pageDisease Leigh Syndrome Details pageDisease Long Qt Syndrome 1 Details pageDisease Long Qt Syndrome 10 Details pageDisease Long Qt Syndrome 11 Details pageDisease Long Qt Syndrome 12 Details pageDisease Long Qt Syndrome 13 Details pageDisease Long Qt Syndrome 14 Details pageDisease Long Qt Syndrome 15 Details pageDisease Long Qt Syndrome 2 Details pageDisease Long Qt Syndrome 3 Details pageDisease Long Qt Syndrome 5 Details pageDisease Long Qt Syndrome 6 Details page
Do Class Name
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of metabolism; genetic diseasegenetic diseasegenetic disease; disease of anatomical entitysyndrome
Disease Type
diseasegroupphenotype
Hpo Class Name
Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system; Abnormal cellular phenotypeAbnormality of the cardiovascular systemAbnormality of the genitourinary system; NeoplasmAbnormality of the nervous system
Do Disease Class
disease of anatomical entitydisease of anatomical entity; disease of cellular proliferationdisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of metabolismsyndrome
Hpo Disease Class
Abnormality of metabolism/homeostasis; Abnormal cellular phenotype; Abnormality of the genitourinary systemAbnormality of the cardiovascular systemAbnormality of the nervous systemNeoplasm; Abnormality of the genitourinary system
Umls Disease Type
Disease or SyndromeFindingMental or Behavioral DysfunctionNeoplastic ProcessPathologic Function
Basic Information
Disease Name
Alzheimer Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Mental diseases;Neuronal diseases
Disease Name
Alzheimer Disease 10
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Mental diseases;Neuronal diseases
Disease Name
Alzheimer Disease 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Mental diseases;Neuronal diseases
Disease Name
Alzheimer Disease 5
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Mental diseases;Neuronal diseases
Disease Name
Atypical Juvenile Parkinsonism
Global Category
Rare diseases
Anatomical Category
Neuronal diseases
Disease Name
Brugada Syndrome 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 4
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 5
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 6
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 7
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 8
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Brugada Syndrome 9
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases;Respiratory diseases
Disease Name
Creutzfeldt-Jakob Disease
Global Category
Genetic diseases;Infectious diseases;Rare diseases
Anatomical Category
Eye diseases;Mental diseases;Neuronal diseases
Disease Name
Familial Short Qt Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Cardiovascular diseases;Endocrine diseases;Eye diseases;Nephrological diseases;Oral diseases;Skin diseases
Disease Name
Hyperkalemic Periodic Paralysis
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases;Oral diseases
Disease Name
Hypokalemic Periodic Paralysis, Type 1
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases
Disease Name
Hypokalemic Periodic Paralysis, Type 2
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Blood diseases;Neuronal diseases
Disease Name
Leber Optic Atrophy and Dystonia
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Leigh Syndrome
Global Category
Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Long Qt Syndrome 1
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 10
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 11
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 12
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 13
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 14
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 15
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 2
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 3
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 5
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Name
Long Qt Syndrome 6
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Blood diseases;Cardiovascular diseases
Disease Definition
Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestationCSP2006:loss of intellectual functions such as memory, learning, reasoning, problem solving, and abstract thinking while vegetative functions remain intact.Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectuaFamilial progressive cardiac conduction defect (PCCD) is a hereditary cardiac conduction disorder that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifFamilial short QT syndrome is a newly described cardiologic entity that associates a short QT interval (QT and QTc 300 ms) on the surface electrocardiogram (ECG) with a high risk of syncope or sudden Hyperkalemic periodic paralysis (HyperPP) is a muscle disorder characterized by episodic attacks of muscle weakness associated with an increase in serum potassium concentration.Hypokalemic periodic paralysis (hypoPP) is characterised by episodes of muscle paralysis lasting from a few to 24-48 hours and associated with a fall in blood potassium levels.MSH2017_2016_08_12:A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)MSH2017_2016_08_12:Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects.|HPO2016_07_04:Impaired conduction of cardiac impulse occurring anywhere along the conduction pathway. [HPO:probinson]|CSP2006:impairment of conduction in heart excitation; often applied specifically to atrioventricular heart block.NCI2016_02D:A benign neoplasm composed of large cells with abundant eosinophilic granular cytoplasm. Representative examples include oncocytic adenomas of the thyroid gland, parathyroid gland, and pituitary gland.|MSH2017_2016_08_12:A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells.NCI2016_02D:A group of genetic neurological disorders caused by mutations in genes involved in the sodium and calcium channels in nerve cells. It is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally.|MSH2017_2016_08_12:A heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia. These conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle. They are frequently associated with fluctuations in serum potassium levels. Periodic paralysis may also occur as a non-familial process secondary to THYROTOXICOSIS and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1481)|CSP2006:heterogenous group of inherited disorders characterized by recurring attacks of rapidly progressive flaccid paralysis or myotonia; these conditions have in common a mutation of the gene encoding the alpha subunit of the sodium channel in skeletal muscle; frequently associated with fluctuations in serum potassium levels; periodic paralysis may also occur as a non-familial process secondary to thyrotoxicosis and other conditions.NCI2016_02D:A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.|MSH2017_2016_08_12:A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))|MEDLINEPLUS_20151021:<p>Creutzfeldt-Jakob disease (CJD) is a rare, <a href='https://www.nlm.nih.gov/medlineplus/degenerativenervediseases.html'>degenerative brain disorder</a>. Symptoms usually start around age 60. Memory problems, behavior changes, vision problems, and poor muscle coordination progress quickly to <a href='https://www.nlm.nih.gov/medlineplus/dementia.html'>dementia</a>, coma, and death. Most patients die within a year.</p> <p>The three main categories of CJD are </p> <ul> <li>Sporadic CJD, which occurs for no known reason </li> <li>Hereditary CJD, which runs in families</li> <li>Acquired CJD, which occurs from contact with infected tissue, usually during a medical procedure</li> </ul> <p>Cattle can get a disease related to CJD called bovine spongiform encephalopathy (BSE) or "mad cow disease." There is concern that people can get a variant of CJD from eating beef from an infected animal, but there is no direct proof to support this.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|CHV2011_02:a rare, incurable and often deadly brain disease|CHV2011_02:a rare, incurable and often deadly brain disease|CHV2011_02:a rare, incurable and often deadly brain disease|CHV2011_02:a rare, incurable and often deadly brain disease|CHV2011_02:a rare, incurable and often deadly brain disease|CHV2011_02:a rare, incurable and often deadly brain disease|CHV2011_02:a rare, incurable and often deadly brain diseaseNCI2016_02D:An electrocardiographic finding of delayed or blocked cardiac electrical impulse conduction from the atria to the ventricles at the level of the atrioventricular node.|MSH2017_2016_08_12:Impaired impulse conduction from HEART ATRIA to HEART VENTRICLES. AV block can mean delayed or completely blocked impulse conduction.|HPO2016_07_04:Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles. [HPO:probinson]NCI2016_02D:An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.|MSH2017_2016_08_12:A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).NCI2016_CTCAE_1602D:A disorder characterized by a dysrhythmia with alternating periods of bradycardia and atrial tachycardia accompanied by syncope, fatigue and dizziness.|NCI2016_02D:A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.|MSH2017_2016_08_12:A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.NCI2016_NCI-GLOSS_1602D:A brain disorder that usually starts in late middle age or old age and gets worse over time. Symptoms include loss of memory, confusion, difficulty thinking, and changes in language, behavior, and personality.|NCI2016_02D:A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.|MSH2017_2016_08_12:A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)|MEDLINEPLUS_20151021:<p>Alzheimer's disease (AD) is the most common form of <a href='https://www.nlm.nih.gov/medlineplus/dementia.html'>dementia</a> among older people. Dementia is a brain disorder that seriously affects a person's ability to carry out daily activities. </p> <p>AD begins slowly. It first involves the parts of the brain that control thought, memory and language. People with AD may have trouble remembering things that happened recently or names of people they know. A related problem, <a href='https://www.nlm.nih.gov/medlineplus/mildcognitiveimpairment.html'>mild cognitive impairment</a> (MCI), causes more memory problems than normal for people of the same age. Many, but not all, people with MCI will develop AD.</p> <p>In AD, over time, symptoms get worse. People may not recognize family members. They may have trouble speaking, reading or writing. They may forget how to brush their teeth or comb their hair. Later on, they may become anxious or aggressive, or wander away from home. Eventually, they need total care. This can cause great stress for family members who must <a href='https://www.nlm.nih.gov/medlineplus/alzheimerscaregivers.html'>care</a> for them.</p> <p>AD usually begins after age 60. The risk goes up as you get older. Your risk is also higher if a family member has had the disease.</p> <p> No treatment can stop the disease. However, some drugs may help keep symptoms from getting worse for a limited time.</p> <p >NIH: National Institute on Aging</p>|JABL99:A disabling degenerative disease of the nervous system occurring in middle-aged or older persons and characterized by dementia and failure of memory for recent events, followed by total incapacitation and death. Types of the Alzheimer syndrome are differentiated by the age of onset and genetic characteristics. The early onset form (the mean age of the onset of symptoms between the ages of 40 and 60 years) and the late onset form (the onset of symptoms after the age of 60 years). Three forms are identified: AD-1, AD-2, AD-3. Some of the clinical characteristics of the Alzheimer syndrome are similar to those of the Pick syndrome.|HPO2016_07_04:A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxia and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques, neurofibrillary tangles, and neuropil threads. [HPO:probinson]|CSP2006:neurodegenerative disorder of the CNS resulting in progressive loss of memory and intellectual functions; begins in the middle or later years; characterized by brain lesions such as neurofibrillary tangles and neuritic plaques.NCI2016_NCI-GLOSS_1602D:A condition in which there is a slow breakdown of cells in the center of the retina (the light-sensitive layers of nerve tissue at the back of the eye). This blocks vision in the center of the eye and can cause problems with activities such as reading and driving. Age-related macular degeneration is most often seen in people who are over the age of 50.|NCI2016_02D:Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.|MSH2017_2016_08_12:Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.|MEDLINEPLUS_20151021:<p>Macular degeneration, or age-related macular degeneration (AMD), is a leading cause of vision loss in Americans 60 and older. It is a disease that destroys your sharp, central vision. You need central vision to see objects clearly and to do tasks such as reading and driving. </p> <p>AMD affects the macula, the part of the eye that allows you to see fine detail. It does not hurt, but it causes cells in the macula to die. There are two types: wet and dry. Wet AMD happens when abnormal blood vessels grow under the macula. These new blood vessels often leak blood and fluid. Wet AMD damages the macula quickly. Blurred vision is a common early symptom. Dry AMD happens when the light-sensitive cells in the macula slowly break down. Your gradually lose your central vision. A common early symptom is that straight lines appear crooked.</p> <p>Regular comprehensive eye exams can detect macular degeneration before the disease causes vision loss. Treatment can slow vision loss. It does not restore vision.</p> <p >NIH: National Eye Institute</p>|HPO2016_07_04:Age-related macular degeneration (AMD) is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field (the macula) because of damage to the retina. [DDD:gblack]|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindness|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindness|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindness|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindness|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindness|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindness|CHV2011_02:A condition in which parts of the eye cells degenerate, resulting in blurred vision and ultimately blindnessNCI2016_NICHD_1602D:A periodic syndrome that is commonly a migraine precursor and is characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy.|NCI2016_02D:A condition characterized by recurrent, self-limiting episodes of vomiting associated with intense nausea, pallor, and lethargy. It is commonly a migraine precursor.NCI2016_NICHD_1602D:A syndrome characterized by a propensity to develop life-threatening arrhythmias usually in the context of a prolonged corrected QT interval.|NCI2016_CDISC_1602D:Long QT Syndrome includes prolongation of the corrected QT interval beyond 440 ms for adult males, 460 ms for adult females and 50 ms in the presence of ventricular depolarization abnormalities (i.e., bundle branch blocks or IVCB more than 120 ms. A normal QT interval in a resting ECG with a failure to shorten with an increase in heart rate qualifies as Long QT Syndrome.|NCI2016_02D:A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death.|MSH2017_2016_08_12:A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.|CSP2006:prolongation of Q-T interval combined with torsades de pointes and manifests as several different forms; may be acquired or congenital; may lead to serious arrhythmia and sudden cardiac death.NCI2016_NICHD_1602D:An unexpected death from a cardiac cause within a short time period from the onset of symptoms.|NCI2016_02D:An unexpected natural death from a cardiac cause within a short time period from the onset of symptoms.(NICHD)|MSH2017_2016_08_12:Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)|HPO2016_07_04:The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset). [HPO:probinson]|CSP2006:unexpected natural death due to cardiac causes that occur rapidly after the onset of acute symptoms in a patient with diagnosed or undiagnosed preexisting heart disease, in whom cardiac dysfunction produces abrupt loss of cerebral blood flow.PSY2004:A disease characterized as a progressive motor disability manifested by tremors, shaking, muscular rigidity, and lack of postural reflexes.|NCI2016_NCI-GLOSS_1602D:A progressive disorder of the nervous system marked by muscle tremors, muscle rigidity, decreased mobility, stooped posture, slow voluntary movements, and a mask-like facial expression.|NCI2016_02D:A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.|MSH2017_2016_08_12:A progressive, degenerative neurologic disease characterized by a TREMOR that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. LEWY BODIES are present in the substantia nigra and locus coeruleus but may also be found in a related condition (LEWY BODY DISEASE, DIFFUSE) characterized by dementia in combination with varying degrees of parkinsonism. (Adams et al., Principles of Neurology, 6th ed, p1059, pp1067-75)|MEDLINEPLUS_20151021:<p>Parkinson's disease (PD) is a type of <a href='https://www.nlm.nih.gov/medlineplus/movementdisorders.html'>movement disorder</a>. It happens when nerve cells in the brain don't produce enough of a brain chemical called dopamine. Sometimes it is genetic, but most cases do not seem to run in families. Exposure to chemicals in the environment might play a role.</p> <p>Symptoms begin gradually, often on one side of the body. Later they affect both sides. They include</p> <ul> <li>Trembling of hands, arms, legs, jaw and face </li> <li>Stiffness of the arms, legs and trunk </li> <li>Slowness of movement </li> <li>Poor balance and coordination </li> </ul> <p>As symptoms get worse, people with the disease may have trouble walking, talking, or doing simple tasks. They may also have problems such as depression, sleep problems, or trouble chewing, swallowing, or speaking.</p> <p>There is no lab test for PD, so it can be difficult to diagnose. Doctors use a medical history and a neurological examination to diagnose it.</p> <p>PD usually begins around age 60, but it can start earlier. It is more common in men than in women. There is no cure for PD. A variety of medicines sometimes help symptoms dramatically. Surgery and deep brain stimulation (DBS) can help severe cases. With DBS, electrodes are surgically implanted in the brain. They send electrical pulses to stimulate the parts of the brain that control movement.</p> <p >NIH: National Institute of Neurological Disorders and Stroke</p>|CSP2006:progressive, degenerative disorder of the nervous system characterized by tremors, rigidity, bradykinesia, postural instability, and gait abnormalities; caused by a loss of neurons and a decrease of dopamine in the basal ganglia.PSY2004:Unexpected death of an apparently healthy infant during sleep.|NCI2016_NICHD_1602D:The unexpected death of an infant less than 1 year of age that cannot be explained after a thorough investigation is conducted, including a complete autopsy, examination of the death scene, and review of the clinical history.|NCI2016_NCI-GLOSS_1602D:The sudden and unexpected death of a healthy child who is younger than one year old, usually during sleep. The cause of SIDS is not known.|NCI2016_02D:Unexpected death in infancy which remains unexplained following autopsy, review of the medical history, and investigation of the death circumstances and death scene.|MSH2017_2016_08_12:The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)|MEDLINEPLUS_20151021:<p>Sudden infant death syndrome (SIDS) is the sudden, unexplained death of an infant younger than one year old. Some people call SIDS "crib death" because many babies who die of SIDS are found in their cribs. </p> <p>SIDS is the leading cause of death in children between one month and one year old. Most SIDS deaths occur when babies are between two months and four months old. Premature babies, boys, African Americans, and American Indian/Alaska Native infants have a higher risk of SIDS.</p> <p>Although health care professionals don't know what causes SIDS, they do know ways to reduce the risk. These include</p> <ul> <li>Placing babies on their backs to sleep, even for short naps. "Tummy time" is for when babies are awake and someone is watching</li> <li>Using a firm sleep surface, such as a crib mattress covered with a fitted sheet </li> <li>Keeping soft objects and loose bedding away from sleep area</li> <li>Making sure babies don't get too hot. Keep the room at a comfortable temperature for an adult.</li> <li>Don't smoke during pregnancy or allow anyone to smoke near your baby</li> </ul> <p >NIH: National Institute of Child Health and Human Development</p>|CSP2006:sudden and unexpected death of an apparently healthy infant, typically occurring between 3 weeks and 5 months of age, most infants dying at night, and not explained by postmortem data.SNOMEDCT_US_2016_09_01:Any abnormal alteration of atrioventricular conduction.|SNOMEDCT_US_2016_09_01:Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities|NCI2016_CTCAE_1602D:A disorder characterized by pathological irregularities in the cardiac conduction system.|NCI2016_02D:A disorder affecting the conduction system that sends electrical signals in the myocardium.SNOMEDCT_US_2016_09_01:Clinical manifestations of cardiac syncope, ventricular tachycardia, ventricular fibrillation, or sudden death in conjunction with a genetic mutation associated with Brugada Syndrome and/or a Brugada pattern ECG (spontaneous or provoked).|NCI2016_CDISC_1602D:Polymorphic ventricular tachycardia in the absence of structural heart disease, associated with a baseline ECG pattern during sinus rhythm showing right bundle branch block with ST segment elevation in leads V1 through V3. It can also be characterized by documentation of ECG patterns associated with Brugada Syndrome, some of which may be unmasked when provoked with drugs. The most common genetic mutations identified for Brugada syndrome are in the sodium channel gene SCN5A.|NCI2016_02D:An electrocardiographic finding of a pattern of right bundle branch block and ST-segment elevation within electrocardiogram leads V1-V3. This pattern emerges as a result of a defect in ion channel genes, resulting in atypical electrophysiological activity in the right ventricle and a propensity for malignant tachyarrhythmias.|MSH2017_2016_08_12:An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.
Me Sh Disease Class
Cardiovascular DiseasesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and AbnormalitiesCardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and SymptomsCardiovascular Diseases; Mental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesCardiovascular Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Nutritional and Metabolic Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesEye DiseasesFemale Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; NeoplasmsMental Disorders; Infections; Nervous System DiseasesMental Disorders; Infections; Nervous System Diseases; Eye Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Nervous System DiseasesNeoplasmsNervous 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; Musculoskeletal DiseasesNervous System Diseases; Nutritional and Metabolic Diseases; Musculoskeletal DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
diseasegroupphenotype
Disease Class Name Me Sh
Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System DiseasesInfections; Nervous System Diseases; Mental DisordersNeoplasmsNeoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital DiseasesNervous System DiseasesNervous System Diseases; Mental DisordersNutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System DiseasesPathological Conditions, Signs and SymptomsPathological Conditions, Signs and Symptoms; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Mental Disorders; Cardiovascular DiseasesPathological Conditions, Signs and Symptoms; Infections; Eye Diseases; Nervous System Diseases; Mental DisordersPathological Conditions, Signs and Symptoms; Nervous System Diseases
Umls Semantic Type Name
Disease or SyndromeFindingMental or Behavioral DysfunctionNeoplastic ProcessPathologic Function