Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Hearing Loss Disease Portal

Switch to table view
Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Ataxia (D001259)
Parent Node: Intellectual Disability (D008607)
Parent Node: Paraplegia (D010264)
..Starting node ..Spastic Paraplegia, Ataxia, And Mental Retardation (C564378)
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:

10403

Name:

Spastic Paraplegia, Ataxia, And Mental Retardation

Definition:

Alternative IDs:

ParentIDs:

MESH:D001259|MESH:D008607|MESH:D010264

TreeNumbers:

C10.597.350.090/C564378 |C10.597.606.643/C564378 |C10.597.622.669/C564378 |C23.888.592.350.090/C564378 |C23.888.592.604.646/C564378 |C23.888.592.636.637/C564378 |F03.550.600/C564378

Synonyms:

Slim Mappings:

Mental disorder|Nervous system disease|Signs and symptoms

Reference:

MedGen: C564378
MeSH: C564378
OMIM: 607565;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000496	Abnormality of eye movement
3	HP:0011448	Ankle clonus
4	HP:0001251	Ataxia
5	HP:0003487	Babinski sign
6	HP:0001272	Cerebellar atrophy
7	HP:0001260	Dysarthria
8	HP:0001332	Dystonia
9	HP:0001347	Hyperreflexia
10	HP:0002166	Impaired vibration sensation in the lower limbs
11	HP:0001249	Intellectual disability
12	HP:0011449	Knee clonus
13	HP:0007340	Lower limb muscle weakness
14	HP:0003812	Phenotypic variability
15	HP:0002064	Spastic gait
16	HP:0001258	Spastic paraplegia
17	HP:0002839	Urinary bladder sphincter dysfunction
18	HP:0000020	Urinary incontinence
19	HP:0000012	Urinary urgency

Disease Causing ClinVar Variants