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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: Intellectual Disability (D008607)
Parent Node: Paraplegia (D010264)
..Starting node ..Mental Retardation with Spastic Paraplegia (C564099)
Child Nodes:
Sister Nodes:
..Brown-Sequard Syndrome (D018437)
..Fryns Macrocephaly (C563963)
..Mental Retardation with Spastic Paraplegia (C564099)
..Optic Atrophy Spastic Paraplegia Syndrome (C564084)
..Spastic Paraplegia 24, Autosomal Recessive (C564375)
..Spastic Paraplegia 28, Autosomal Recessive (C563732)
..Spastic Paraplegia 30, Autosomal Recessive (C563677)
..Spastic Paraplegia Type 11 (C580453)
..Spastic Paraplegia Type 3a (C580455)
..Spastic Paraplegia Type 4 (C580456)
..Spastic Paraplegia Type 7 (C580457)
..Spastic Paraplegia Type 8 (C580458)
..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
..Spastic Paraplegia, Optic Atrophy, and Neuropathy (C563702)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7010

Name:

Mental Retardation with Spastic Paraplegia

Definition:

Alternative IDs:

ParentIDs:

MESH:D008607|MESH:D010264

TreeNumbers:

C10.597.606.643/C564099 |C10.597.622.669/C564099 |C23.888.592.604.646/C564099 |C23.888.592.636.637/C564099 |F03.550.600/C564099

Synonyms:

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564099
MeSH: C564099
OMIM: 309640;

Genes:

Phenotypes

1	HP:0001249	Intellectual disability
2	HP:0006983	Slowly progressive spastic quadriparesis
3	HP:0001258	Spastic paraplegia

Disease Causing ClinVar Variants