DiseaseID 11240
延髓麻痹
disease
HPO2016_07_04:Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular leve
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Disease: 1Formula: 20Herb: 1Symptom: 12Target: 23Links: 57
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 11240
- Core Entity Id
- 68607
- Source Entity Count
- 1
- Preferred Name
- Bulbar Palsy
- Name Cn
- 延髓麻痹
- Name Pinyin
- Yan Sui Ma Bi
- Name En
- Bulbar Palsy
- Name Latin
- Bilingual Status
- complete
- Disease Type
- disease
- Umls Disease Type
- Disease or Syndrome
- Disgenet Type
- disease
- Mesh Class
- Nervous System DiseasesOtorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
- Hpo Class
- Abnormality of the musculature; Abnormality of the nervous system
- Mesh Class Name
- Nervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
- Hpo Class Name
- Abnormality of the nervous system; Abnormality of the musculature
- Do Class Name
- disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
- Disease Definition
- HPO2016_07_04:Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. [HPO:curators]
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Bulbar Palsy
Role
preferred
Name
Brown-Vialetto-Van Laere Syndrome 2
Role
preferred
Name
Fazio-Londe Disease
Role
preferred
Name
Progressive Bulbar Palsy
Role
preferred
Name
Spinal Muscular Atrophy, Type Iv
Role
preferred
Name
Brown-Vialetto-Van Laere Syndrome 1
Role
preferred
Name
Bulbar Weakness
Role
preferred
Name
Childhood Progressive Bulbar Palsy
Role
preferred
Name
Fazio-Londe Syndrome
Role
preferred
Name
Infantile-Onset X-Linked Spinal Muscular Atrophy
Role
preferred
Name
Scapuloperoneal Spinal Muscular Atrophy
Role
preferred
Name
Adult Spinal Muscular Atrophy
Role
alias
Name
BULBAR PALSY, PROGRESSIVE, OF CHILDHOOD
Role
alias
Name
BVVLS2
Role
alias
Name
Brown-Vialetto-Van Laere Syndrome
Role
alias
Name
Bulbar Muscle Weakness
Role
alias
Name
Bulbar Palsies
Role
alias
Name
Bulbar Palsy, Progressive
Role
alias
Name
Palsy, Bulbar
Role
alias
Name
SMA4
Role
alias
Name
SPINAL MUSCULAR ATROPHY, ADULT FORM
Role
alias
Name
SPINAL MUSCULAR ATROPHY, PROXIMAL, ADULT, AUTOSOMAL RECESSIVE
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Hpo
HP:0001283
Herb
HBDIS001049HBDIS002295HBDIS008659HBDIS011732HBDIS013364HBDIS015657HBDIS021763HBDIS025526
Me Sh
D010244
Omim
211500211530271150614707
Umls
C0015708C0030442C0751335C0796274C1838230C1844934C3553538C4082299
Icd10
G12.1G12.22
Sym Map
SMDE00155SMDE01127SMDE01733SMDE03230SMDE03578SMDE03694SMDE06663SMDE12470
Do Class
DOID:630DOID:7
Dis Ge Net
C0015708C0030442C0393540C0796274C1301959C1838230C3553538C4082299
Orphanet
114597229
Umls Sty
T047
Hpo Class
HP:0000707HP:0003011
Me Sh Class
C09C10C23
Etcm Disease
Brown-Vialetto-Van Laere Syndrome 1Brown-Vialetto-Van Laere Syndrome 2Fazio-Londe Disease
Tcmbank Disease
15781786919536213932750032193233349967299
Itcmdb Generated
ITX-DISEASE-3A651682D4D9ITX-DISEASE-A002B0DE5C2FITX-DISEASE-C7D19BC90061ITX-DISEASE-C8360264D4ADITX-DISEASE-D72CD9737962ITX-DISEASE-EB272D664897
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Brown-Vialetto-Van Laere Syndrome 1 Details pageDisease Brown-Vialetto-Van Laere Syndrome 2 Details pageDisease Fazio-Londe Disease Details page
Do Class Name
disease of anatomical entitygenetic diseasegenetic disease; disease of anatomical entity
Disease Type
disease
Hpo Class Name
Abnormality of the nervous system; Abnormality of the musculature
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic diseasegenetic disease
Hpo Disease Class
Abnormality of the musculature; Abnormality of the nervous system
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Brown-Vialetto-Van Laere Syndrome 1
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Neuronal diseases
Disease Name
Brown-Vialetto-Van Laere Syndrome 2
Global Category
Fetal diseases;Genetic diseases;Metabolic diseases;Rare diseases
Anatomical Category
Ear diseases;Eye diseases;Neuronal diseases
Disease Name
Fazio-Londe Disease
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Neuronal diseases
Disease Definition
HPO2016_07_04:Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia. [HPO:curators]JABL99:A progressive condition marked by bilateral nerve deafness and neurological disorders involving several cranial and, less commonly, spinal nerves.NCI2016_02D:A progressive motor neuron disorder affecting the muscles which are innervated by cranial nerves of the lower brain stem. Signs and symptoms include difficulties in chewing and swallowing, dysarthria, and weakness of the facial muscles and tongue.|MSH2017_2016_08_12:A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple co
Me Sh Disease Class
Nervous System DiseasesOtorhinolaryngologic Diseases; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Nervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Umls Semantic Type Name
Disease or Syndrome