Relationship Network
Interactive first-hop connections across herbs, ingredients, formulas, targets, diseases, symptoms, syndromes, evidence, and monographs.
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Disease: 1Formula: 21Symptom: 12Target: 24Links: 57
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 3398
- Core Entity Id
- 59600
- Source Entity Count
- 1
- Preferred Name
- Harding Ataxia
- Name Cn
- Harding共济失调
- Name Pinyin
- Harding Gong Ji Shi Tiao
- Name En
- Harding Ataxia
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsStomatognathic Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesStomatognathic Diseases; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of metabolism
- Hpo Class
- Abnormality of head or neck
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
- Hpo Class Name
- Abnormality of head or neck
- Do Class Name
- disease of anatomical entitydisease of metabolism; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- gene mutations.
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Harding Ataxia
Role
preferred
Name
Friedreich Ataxia
Role
preferred
Name
Leukodystrophy, Hypomyelinating, 11
Role
preferred
Name
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Role
preferred
Name
Marinesco-Sjogren Syndrome
Role
preferred
Name
Myoclonic Cerebellar Dyssynergia
Role
preferred
Name
Spinocerebellar Degeneration
Role
preferred
Name
Ataxias, Hereditary
Role
preferred
Name
Autosomal Recessive Ataxia, Beauce Type
Role
preferred
Name
Camos Syndrome
Role
preferred
Name
Cerebellar Ataxia, Early Onset
Role
preferred
Name
Cerebellar Ataxia, Late Onset
Role
preferred
Name
Cerebellar Degenerations, Primary
Role
preferred
Name
Corticostriatal-Spinal Degeneration
Role
preferred
Name
FRIEDREICH ATAXIA 1
Role
preferred
Name
Fragile X-Associated Tremor/Ataxia Syndrome
Role
preferred
Name
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Role
preferred
Name
Infantile Onset Spinocerebellar Ataxia
Role
preferred
Name
Leukodystrophy, Dysmyelinating, With Oligodontia
Role
preferred
Name
Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
Role
preferred
Name
Marie Cerebellar Ataxia
Role
preferred
Name
Spinocerebellar Ataxia 5
Role
preferred
Name
Spinocerebellar Ataxia Type 34
Role
preferred
Name
Vitamin E, Familial Isolated Deficiency Of
Role
preferred
Name
Cerebellar Ataxia, Early-Onset, With Retained Tendon Reflexes
Role
alias
Name
Early-Onset Cerebellar Ataxia
Role
alias
Name
FA
Role
alias
Name
FRDA
Role
alias
Name
Friedreich'S Disease
Role
alias
Name
HLD11
Role
alias
Name
HLD8
Role
alias
Name
Hereditary Ataxia
Role
alias
Name
Hereditary Ataxia, Unspecified
Role
alias
Name
Hypomyelinating Leukodystrophy 11
Role
alias
Name
Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism
Role
alias
Name
Hypomyelinating Leukodystrophy 8 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism
Role
alias
Name
Late-Onset Cerebellar Ataxia
Role
alias
Name
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Role
alias
Name
MSS
Role
alias
Name
Mitochondrial Dna Depletion Syndrome 7
Role
alias
Name
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Role
alias
Name
Primary Cerebellar Degeneration
Role
alias
Name
Spinocerebellar Ataxia, Infantile-Onset
Role
alias
Name
Spinocerebellar Degenerations
Role
alias
Name
Syndrome, Marinesco-Sjogren
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0005323
Herb
HBDIS000271HBDIS001109HBDIS001862HBDIS002478HBDIS002810HBDIS006490HBDIS006491HBDIS008653HBDIS008654HBDIS008655HBDIS016551HBDIS017323HBDIS019435HBDIS021327HBDIS021561HBDIS025714HBDIS028221
Me Sh
D002527D005621D013132
Omim
212895229300248800271245606937607694614381616494
Umls
C0007761C0016719C0024814C0037952C0752123C1839780C1847114C1847416C1848533C1849096C1851481C1853116C1856689C2676243C2930921C3164069C3280644C3683483C4225305
Icd10
G11G11.1G11.2G11.9
Med Dra
1001737410047631
Sym Map
SMDE00130SMDE00154SMDE00239SMDE00416SMDE00572SMDE00792SMDE01191SMDE01279SMDE02357SMDE02410SMDE03305SMDE03863SMDE04649SMDE11232SMDE13361
Do Class
DOID:0014667DOID:630DOID:7
Dis Ge Net
C0004138C0007761C0016719C0024814C0033132C0037952C0270749C0270755C0393519C0393520C0393524C1849096C1856689C2676243C3280644C3502054C4225305
Orphanet
1186195583472886378864493256959698766
Umls Sty
T047
Hpo Class
HP:0000152
Me Sh Class
C07C10C16C18C19C23
Etcm Disease
Leukodystrophy, Hypomyelinating, 11Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic HypogonadismMarinesco-Sjogren Syndrome
Tcmbank Disease
1277313398146601473916878199172045924482475264143043340905205562571979426
Itcmdb Generated
ITX-DISEASE-34D223DB5973ITX-DISEASE-565B230931F5ITX-DISEASE-EE61D0EC9749ITX-DISEASE-EFC6450BBE04
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Leukodystrophy, Hypomyelinating, 11 Details pageDisease Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism Details pageDisease Marinesco-Sjogren Syndrome Details page
Do Class Name
disease of anatomical entitydisease of metabolism; genetic diseasegenetic diseasegenetic disease; disease of anatomical entity
Disease Type
diseasegroup
Hpo Class Name
Abnormality of head or neck
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic diseasegenetic disease; disease of metabolism
Hpo Disease Class
Abnormality of head or neck
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Leukodystrophy, Hypomyelinating, 11
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Leukodystrophy, Hypomyelinating, 8, with or Without Oligodontia and/or Hypogonadotropic Hypogonadism
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Eye diseases;Neuronal diseases
Disease Name
Marinesco-Sjogren Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Bone diseases;Endocrine diseases;Eye diseases;Mental diseases;Neuronal diseases
Disease Definition
gene mutations.CAMOS syndrome is characterised by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been describeFragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reHypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism Infantile-onset spinocerebellar ataxia (IOSCA) is a hereditary neurological disorder with early and severe involvement of both the peripheral and central nervous systems. It has only been described inJABL99:Cerebellar ataxia, congenital cataracts which progresses to blindness, and psychomotor retardation.MSH2017_2016_08_12:A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)MSH2017_2016_08_12:A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.Spinocerebellar ataxia type 34 (SCA34) is a subtype of autosomal dominant cerebellar ataxia type I (ADCA type I; see this term), characterized by papulosquamous, ichthyosiform plaques on the limbs app
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesNervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesNervous System Diseases; Pathological Conditions, Signs and SymptomsStomatognathic Diseases; Nervous System Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic DiseasesStomatognathic Diseases; Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases
Dis Ge Net Disease Type
diseasegroup
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; 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; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Stomatognathic DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome