DiseaseID 5199
遗传性运动感觉神经病V型
disease
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to t
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Disease: 1Symptom: 12Target: 24Links: 36
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Record Fields
Scalar fields from the final disease record.
- Disease Id
- 5199
- Core Entity Id
- 61661
- Source Entity Count
- 1
- Preferred Name
- Hmsn Type V
- Name Cn
- 遗传性运动感觉神经病V型
- Name Pinyin
- Yi Chuan Xing Yun Dong Gan Jue Shen Jing Bing V Xing
- Name En
- Hmsn Type V
- 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 DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
- Do Class
- disease of anatomical entitydisease of anatomical entity; genetic disease
- Hpo Class
- Mesh Class Name
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental DisordersPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
- Hpo Class Name
- Do Class Name
- disease of anatomical entitygenetic disease; disease of anatomical entity
- Disease Definition
- Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to t
- Version
- v1
- Suppressed
- No
Names
Preferred names, aliases, and source labels retained in the final schema.
Name
Hmsn Type V
Role
preferred
Name
Autosomal Recessive Hereditary Spastic Paraplegia
Role
preferred
Name
Autosomal Recessive Spastic Paraplegia Type 11
Role
preferred
Name
Autosomal Recessive Spastic Paraplegia Type 57
Role
preferred
Name
Hereditary X-Linked Recessive Spastic Paraplegia
Role
preferred
Name
Mast Syndrome
Role
preferred
Name
Nakamura Osame Syndrome
Role
preferred
Name
Spastic Paraplegia 10, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 11, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 13, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 15, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 16, X-Linked (Disorder)
Role
preferred
Name
Spastic Paraplegia 19, Autosomal Dominant (Disorder)
Role
preferred
Name
Spastic Paraplegia 24, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia 25, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 26, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia 29, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 3, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 31, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 36, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 37, Autosomal Dominant (Disorder)
Role
preferred
Name
Spastic Paraplegia 39, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 4, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 41, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 42, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 43, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 45, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 46, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 48, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 49, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 53, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 54, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 55, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 56, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 57, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 61, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 62, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 63, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 64, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 7, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 72, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 72, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 73, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 75, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia 8, Autosomal Dominant
Role
preferred
Name
Spastic Paraplegia 9B, Autosomal Recessive
Role
preferred
Name
Spastic Paraplegia Type 7
Role
preferred
Name
Spastic Paraplegia, Hereditary
Role
preferred
Name
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Role
preferred
Name
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Role
preferred
Name
Hereditary Autosomal Dominant Spastic Paraplegia
Role
preferred
Name
Leukodystrophy, Dysmyelinating, And Spastic Paraparesis With Or Without Dystonia
Role
preferred
Name
Masa Syndrome
Role
preferred
Name
SPASTIC PARAPLEGIA 12, AUTOSOMAL DOMINANT (disorder)
Role
preferred
Name
SPASTIC PARAPLEGIA 2, X-LINKED (disorder)
Role
preferred
Name
SPASTIC PARAPLEGIA 23 (disorder)
Role
preferred
Name
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
Role
preferred
Name
SPASTIC PARAPLEGIA 32, AUTOSOMAL RECESSIVE
Role
preferred
Name
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
Role
preferred
Name
SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder)
Role
preferred
Name
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
Role
preferred
Name
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
Role
preferred
Name
Spastic Paraplegia 14, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia 17
Role
preferred
Name
Spastic Paraplegia 18, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia 2, X-Linked
Role
preferred
Name
Spastic Paraplegia 27, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia 28, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia 34, X-Linked (Disorder)
Role
preferred
Name
Spastic Paraplegia 38, Autosomal Dominant (Disorder)
Role
preferred
Name
Spastic Paraplegia 44, Autosomal Recessive (Disorder)
Role
preferred
Name
Spastic Paraplegia Type 5A, Recessive
Role
preferred
Name
Troyer Syndrome
Role
preferred
Name
X-Linked, Spastic Paraplegia, Hereditary
Role
preferred
Name
Charcot-Marie-Tooth Disease Type 5
Role
alias
Name
FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 1
Role
alias
Name
FAMILIAL SPASTIC PARAPLEGIA, AUTOSOMAL DOMINANT, 2
Role
alias
Name
FSP1
Role
alias
Name
FSP2
Role
alias
Name
HSP-TCC
Role
alias
Name
Hereditary Motor And Sensory Neuropathy V
Role
alias
Name
Hereditary Spastic Paraplegia
Role
alias
Name
Hereditary Spastic Paraplegia 10
Role
alias
Name
Hereditary Spastic Paraplegia 11
Role
alias
Name
Hereditary Spastic Paraplegia 12
Role
alias
Name
Hereditary Spastic Paraplegia 13
Role
alias
Name
Hereditary Spastic Paraplegia 14
Role
alias
Name
Hereditary Spastic Paraplegia 15
Role
alias
Name
Hereditary Spastic Paraplegia 16
Role
alias
Name
Hereditary Spastic Paraplegia 17
Role
alias
Name
Hereditary Spastic Paraplegia 18
Role
alias
Name
Hereditary Spastic Paraplegia 19
Role
alias
Name
Hereditary Spastic Paraplegia 2
Role
alias
Name
Hereditary Spastic Paraplegia 23
Role
alias
Name
Hereditary Spastic Paraplegia 24
Role
alias
Name
Hereditary Spastic Paraplegia 25
Role
alias
Name
Hereditary Spastic Paraplegia 26
Role
alias
Name
Hereditary Spastic Paraplegia 27
Role
alias
Name
Hereditary Spastic Paraplegia 28
Role
alias
Name
Hereditary Spastic Paraplegia 29
Role
alias
Name
Hereditary Spastic Paraplegia 30
Role
alias
Name
Hereditary Spastic Paraplegia 31
Role
alias
Name
Hereditary Spastic Paraplegia 32
Role
alias
Name
Hereditary Spastic Paraplegia 34
Role
alias
Name
Hereditary Spastic Paraplegia 35
Role
alias
Name
Hereditary Spastic Paraplegia 36
Role
alias
Name
Hereditary Spastic Paraplegia 37
Role
alias
Name
Hereditary Spastic Paraplegia 38
Role
alias
Name
Hereditary Spastic Paraplegia 39
Role
alias
Name
Hereditary Spastic Paraplegia 3A
Role
alias
Name
Hereditary Spastic Paraplegia 4
Role
alias
Name
Hereditary Spastic Paraplegia 41
Role
alias
Name
Hereditary Spastic Paraplegia 42
Role
alias
Name
Hereditary Spastic Paraplegia 43
Role
alias
Name
Hereditary Spastic Paraplegia 44
Role
alias
Name
Hereditary Spastic Paraplegia 45
Role
alias
Name
Hereditary Spastic Paraplegia 46
Role
alias
Name
Hereditary Spastic Paraplegia 48
Role
alias
Name
Hereditary Spastic Paraplegia 49
Role
alias
Name
Hereditary Spastic Paraplegia 53
Role
alias
Name
Hereditary Spastic Paraplegia 54
Role
alias
Name
Hereditary Spastic Paraplegia 55
Role
alias
Name
Hereditary Spastic Paraplegia 56
Role
alias
Name
Hereditary Spastic Paraplegia 57
Role
alias
Name
Hereditary Spastic Paraplegia 5A
Role
alias
Name
Hereditary Spastic Paraplegia 6
Role
alias
Name
Hereditary Spastic Paraplegia 61
Role
alias
Name
Hereditary Spastic Paraplegia 62
Role
alias
Name
Hereditary Spastic Paraplegia 63
Role
alias
Name
Hereditary Spastic Paraplegia 64
Role
alias
Name
Hereditary Spastic Paraplegia 7
Role
alias
Name
Hereditary Spastic Paraplegia 72
Role
alias
Name
Hereditary Spastic Paraplegia 73
Role
alias
Name
Hereditary Spastic Paraplegia 75
Role
alias
Name
Hereditary Spastic Paraplegia 77
Role
alias
Name
Hereditary Spastic Paraplegia 8
Role
alias
Name
Hereditary Spastic Paraplegia 9A
Role
alias
Name
Hereditary Spastic Paraplegia 9B
Role
alias
Name
Hmsn V
Role
alias
Name
Intellectual Disability, Motor Dysfunction, And Joint Contractures
Role
alias
Name
KJELLIN SYNDROME
Role
alias
Name
Lison Syndrome
Role
alias
Name
NTE-RELATED MOTOR NEURON DISORDER
Role
alias
Name
NTEMND
Role
alias
Name
Nakamura-Osame Syndrome
Role
alias
Name
Peroneal Muscular Atrophy With Pyramidal Features, Autosomal Dominant
Role
alias
Name
SPASTIC PARAPLEGIA 10 WITH OR WITHOUT PERIPHERAL NEUROPATHY
Role
alias
Name
SPASTIC PARAPLEGIA 21, AUTOSOMAL RECESSIVE
Role
alias
Name
SPASTIC PARAPLEGIA AND RETINAL DEGENERATION
Role
alias
Name
SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM
Role
alias
Name
SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM
Role
alias
Name
SPG10
Role
alias
Name
SPG11
Role
alias
Name
SPG13
Role
alias
Name
SPG15
Role
alias
Name
SPG21
Role
alias
Name
SPG3
Role
alias
Name
SPG31
Role
alias
Name
SPG39
Role
alias
Name
SPG3A
Role
alias
Name
SPG4
Role
alias
Name
SPG42
Role
alias
Name
SPG43
Role
alias
Name
SPG45
Role
alias
Name
SPG46
Role
alias
Name
SPG48
Role
alias
Name
SPG49
Role
alias
Name
SPG53
Role
alias
Name
SPG54
Role
alias
Name
SPG56
Role
alias
Name
SPG57
Role
alias
Name
SPG61
Role
alias
Name
SPG62
Role
alias
Name
SPG63
Role
alias
Name
SPG64
Role
alias
Name
SPG7
Role
alias
Name
SPG72
Role
alias
Name
SPG73
Role
alias
Name
SPG75
Role
alias
Name
SPG8
Role
alias
Name
SPG9B
Role
alias
Name
SPOAN
Role
alias
Name
STRUMPELL DISEASE
Role
alias
Name
Silver Syndrome
Role
alias
Name
Spastic Paraplegia 12, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 14, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 16, X-Linked
Role
alias
Name
Spastic Paraplegia 17, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 18, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 19, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 20, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 23
Role
alias
Name
Spastic Paraplegia 24, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 26, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 27, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 28, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 30, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 34, X-Linked
Role
alias
Name
Spastic Paraplegia 35, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 37, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 38, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 44, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 5A, Autosomal Recessive
Role
alias
Name
Spastic Paraplegia 6, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 9, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia 9A, Autosomal Dominant
Role
alias
Name
Spastic Paraplegia Due To Partial TFG Deficiency
Role
alias
Name
Spastic Paraplegia Type 8
Role
alias
Name
Spastic Paraplegia-intellectual Disability-thin Corpus Callosum Syndrome
Role
alias
Name
Spg16
Role
alias
Name
Spg2
Role
alias
Name
Spg38
Role
alias
Name
Spg44
Role
alias
Name
Spg9A
Role
alias
Name
Spoan Syndrome
Role
alias
Cross References
Trusted external identifiers retained for this final record.
Herb
HBDIS002794HBDIS008666HBDIS011379HBDIS011380HBDIS011381HBDIS011382HBDIS011672HBDIS015104HBDIS015366HBDIS015377HBDIS015457HBDIS015656HBDIS015739HBDIS016339HBDIS016553HBDIS016555HBDIS016931HBDIS017042HBDIS017145HBDIS017510HBDIS017546HBDIS017576HBDIS018048HBDIS018344HBDIS018795HBDIS019394HBDIS019512HBDIS020041HBDIS020267HBDIS020282HBDIS020283HBDIS021538HBDIS021624HBDIS021625HBDIS021626HBDIS022057HBDIS022409HBDIS022410HBDIS022423HBDIS022424HBDIS022794HBDIS025692HBDIS025785HBDIS026015HBDIS026312HBDIS027810HBDIS028785HBDIS028793HBDIS028850HBDIS028865HBDIS028868HBDIS028930HBDIS028962HBDIS029135HBDIS029150HBDIS029155HBDIS029178HBDIS029187HBDIS029224HBDIS029230HBDIS029231HBDIS029232HBDIS029266HBDIS029369HBDIS029374HBDIS029442HBDIS029513HBDIS029537HBDIS029847
Me Sh
D015419
Omim
182600182601248900270685270700270800275900312920600361600363601162603563604187604360604805605280607259609195609340610250610357611225612020612319612539613206613647614409614898615030615031615033615035615043615625615658615681615683615685615686616282616586616680617046
Umls
C0037773C0751603C0751604C0795953C1836010C1836632C1839264C1843569C1846046C1846564C1846685C1849128C1853247C1854467C1855346C1857855C1858479C1858712C1863704C1866855C2675528C2677586C2680446C2828721C2931355C2931821C2936860C2936879C2936880C3150901C3539494C3539495C3539506C3539507C3542549C3711370C3714897C3810160C3810161C3810289C3810294C3810295C3888208C3888209C4225250C4225272C4225387C4284588
Icd10
G11.4
Sym Map
SMDE00030SMDE00619SMDE00977SMDE01026SMDE01046SMDE01050SMDE01115SMDE01263SMDE01414SMDE01590SMDE01701SMDE01791SMDE01996SMDE02239SMDE02434SMDE02514SMDE03226SMDE03274SMDE03276SMDE03341SMDE03398SMDE03506SMDE03581SMDE03800SMDE04030SMDE04096SMDE04123SMDE04411SMDE04508SMDE04575SMDE04661SMDE04693SMDE04806SMDE05080SMDE05138SMDE06215SMDE09439SMDE11281SMDE13287SMDE13288SMDE13289SMDE13290SMDE13291SMDE13292SMDE13293SMDE13294SMDE13295SMDE13296SMDE13297SMDE13298SMDE13300
Do Class
DOID:630DOID:7
Dis Ge Net
C0037773C0393559C0751602C0751603C0751604C0751605C0796019C1832669C1835896C1836010C1836295C1836632C1836899C1838192C1839264C1843569C1846046C1846564C1846685C1849115C1849128C1853247C1854467C1854568C1855346C1857855C1858106C1858479C1858712C1863704C1866855C1970009C2675528C2676732C2677586C2677897C2680446C2749936C2750784C2828721C2931276C2931355C2931356C2931821C2936860C2936879C2936880C3150901C3496228C3539494C3539495C3539506C3539507C3542549C3711370C3714897C3810160C3810161C3810289C3810294C3810295C3888208C3888209C4225250C4225272C4225387C4284588C4310750C4721916
Orphanet
2466282232947543132999015
Umls Sty
T047
Me Sh Class
C05C10C11C16C17C23F01F03
Etcm Disease
Masa SyndromeMast Syndrome
Tcmbank Disease
114551229512761392914223144921675117393175921771807018520193862004820160210392120215223614246425022590260402631327412276922836528432903229210293842997630243054630637321713221147025483556860956387642769077459151
Itcmdb Generated
ITX-DISEASE-06A51D825C0FITX-DISEASE-1332FBE7CCA7ITX-DISEASE-28751B9ABD66ITX-DISEASE-3A2E89239089ITX-DISEASE-6C70902E268DITX-DISEASE-7EFA8AFF03F5ITX-DISEASE-A0BBB4C9B9CDITX-DISEASE-D3B8FCB24658ITX-DISEASE-EA9A29AFA3C3
Attributes
Merged source attributes and domain-specific metadata.
Version
v1v1,v2v2
Suppress
0
Page Title
Disease Masa Syndrome Details pageDisease Mast Syndrome Details page
Do Class Name
disease of anatomical entitygenetic disease; disease of anatomical entity
Disease Type
disease
Do Disease Class
disease of anatomical entitydisease of anatomical entity; genetic disease
Umls Disease Type
Disease or Syndrome
Basic Information
Disease Name
Masa Syndrome
Global Category
Fetal diseases;Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Name
Mast Syndrome
Global Category
Genetic diseases;Rare diseases
Anatomical Category
Mental diseases;Neuronal diseases
Disease Definition
Autosomal recessive spastic paraplegia type 57 (SPG57) is an extremely rare, complex type of hereditary spastic paraplegia, characterized by onset in infancy of pronounced leg spasticity (leading to tMASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syMSH2017_2016_08_12:A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)SNOMEDCT_US_2016_09_01:A form of hereditary spastic paraplegia with onset usually in adulthood of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.SNOMEDCT_US_2016_09_01:Progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. Autosomal recessive spastic paraplegia type 11 is a form of complicated spastic paraplegia with neurological features such as mental impairment and thin corpus callosum in addition to spasticity.Spastic paraplegia-Paget disease of bone syndrome is an extremely rare, complex form of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with increased muscle to
Me Sh Disease Class
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesEye Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and SymptomsMental Disorders; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Behavior and Behavior Mechanisms; Pathological Conditions, Signs and Symptoms; Musculoskeletal DiseasesMusculoskeletal Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and SymptomsNervous System Diseases; Pathological Conditions, Signs and SymptomsSkin and Connective Tissue Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms
Dis Ge Net Disease Type
disease
Disease Class Name Me Sh
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental DisordersPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior MechanismsPathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System DiseasesPathological Conditions, Signs and Symptoms; Nervous System Diseases
Umls Semantic Type Name
Disease or Syndrome