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

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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Vision Disorders (D014786)
..Starting node ..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
Child Nodes:
Sister Nodes:
..Alice in Wonderland Syndrome (D062026)
..Amblyopia (D000550) 2
..Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..Blindness (D001766) 39
..Color Vision Defects (D003117) 11
..Creutzfeldt-Jakob Disease, Heidenhain Variant (C566981)
..Diplopia (D004172)
..Enhanced S-Cone Syndrome (C564835)
..Hemianopsia (D006423)
..Night Blindness (D009755) 14
..Photophobia (D020795) 2
..Scotoma (D012607) 1
..Siegler Brewer Carey syndrome (C537335)
..SPATIAL VISUALIZATION, APTITUDE FOR (OMIM:313000)
..Susac Syndrome (D055955)
..Vision, Low (D015354)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

10425

Name:

SPATIAL VISUALIZATION, APTITUDE FOR

Definition:

Alternative IDs:

ParentIDs:

MESH:D014786

TreeNumbers:

C10.597.751.941/313000 |C11.966/313000 |C23.888.592.763.941/313000

Synonyms:

VISUOSPATIAL/PERCEPTUAL ABILITIES;VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE, INCLUDED

Slim Mappings:

Eye disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 313000
MeSH: 313000
OMIM: 313000;

Genes:

Phenotypes

1

Abnormality of the nervous system

Disease Causing ClinVar Variants