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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Brain Diseases (D001927)
Parent Node: Neurodegenerative Diseases (D019636)
..Starting node ..Spastic Pseudosclerosis (C563024)
Child Nodes:
Sister Nodes:
..Familial apoceruloplasmin deficiency (C536004)
..Feigenbaum Bergeron Richardson syndrome (C536178)
..Heredodegenerative Disorders, Nervous System (D020271) 543
..Idiopathic basal ganglia calcification 1 (C536275)
..Lewy Body Disease (D020961) 3
..Motor Neuron Disease (D016472) 64
..Multiple System Atrophy (D019578) 21
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A (OMIM:256600)
..NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B (OMIM:610217)
..Neuronal intranuclear inclusion disease (C537395)
..Olivopontocerebellar Atrophies (D009849) 15
..Paraneoplastic Syndromes, Nervous System (D020361) 10
..Parkinson Disease (D010300) 24
..PEHO syndrome (C536317)
..Postpoliomyelitis Syndrome (D016262)
..Prion Diseases (D017096) 12
..Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant (C565326)
..Shy-Drager Syndrome (D012791)
..Spastic Pseudosclerosis (C563024)
..Subacute Combined Degeneration (D052879)
..Tauopathies (D024801) 32
..TDP-43 Proteinopathies (D057177) 32
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10423

Name:

Spastic Pseudosclerosis

Definition:

Alternative IDs:

ParentIDs:

MESH:D001927|MESH:D019636

TreeNumbers:

C10.228.140/C563024 |C10.574/C563024

Synonyms:

Corticopallidodegeneration |Disseminated Encephalomyelopathy

Slim Mappings:

Nervous system disease

Reference:

MedGen: C563024
MeSH: C563024
OMIM: 270900;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000707	Abnormality of the nervous system

Disease Causing ClinVar Variants