- About
- GBrowse
- MSeqDR-LSDB
- Tools
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MT.AT
- MitoMaster
- MitoTIP tRNA Scoring
- MitoGenome Diagram: pdf .png
- Variant Tool:
- VariantOneStop
- Exome Prioritization
- Exome Priori. Result
- HBCR Exome
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner V2
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
- pdf2table
- Quick-Mitome
- Exome Portal
- Phenome
- Collaboration
- Submission
- MSeqDR PhenoTips
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,
ClinVar: RCV000000015,
Disease: Leigh syndrome,
Phenotype: Retinopathy
|
Human Disease and Phenotype Search
| ||||||
| 1 | RETINOPATHY | Term ID | HPO Disorder | Detail | Matched Field | Top Match |
| 1:1 | RETINOPATHY | HP:0000488 | Retinopathy | Term:HP:0000488 Retinopathy Synonym: Definition: Any noninflammatory disease of the retina. This nonspecific term is retained here because of its wide use in the literature, but if possible new annotations should indicate the precise type of retinal abnormality. Tree level: 9 | Name or Synonym | 2 |
| 1:2 | RETINOPATHY | HP:0000580 | Pigmentary retinopathy | Term:HP:0000580 Pigmentary retinopathy Synonym: Definition: Tree level: 10 | Name or Synonym | 1 |
| 1:3 | RETINOPATHY | HP:0001095 | Hypertensive retinopathy | Term:HP:0001095 Hypertensive retinopathy Synonym: Definition: Tree level: 7 | Name or Synonym | 1 |
| 1:4 | RETINOPATHY | HP:0001145 | obsolete Chorioretinopathy | Term:HP:0001145 obsolete Chorioretinopathy Synonym: Definition: Tree level: 1 | Name or Synonym | 1 |
| 1:5 | RETINOPATHY | HP:0007773 | Vitreoretinopathy | Term:HP:0007773 Vitreoretinopathy Synonym: Vitreoretinal abnormality Definition: Tree level: 8 | Name or Synonym | 1 |
| 1:6 | RETINOPATHY | HP:0007852 | obsolete Pericentral pigmentary retinopathy | Term:HP:0007852 obsolete Pericentral pigmentary retinopathy Synonym: Definition: Tree level: 1 | Name or Synonym | 1 |
| 1:7 | RETINOPATHY | HP:0007869 | obsolete Peripheral retinopathy | Term:HP:0007869 obsolete Peripheral retinopathy Synonym: Definition: Tree level: 1 | Name or Synonym | 1 |
| 1:8 | RETINOPATHY | HP:0007898 | Exudative retinopathy | Term:HP:0007898 Exudative retinopathy Synonym: Definition: Tree level: 11 | Name or Synonym | 1 |
| 1:9 | RETINOPATHY | HP:0007964 | Degenerative vitreoretinopathy | Term:HP:0007964 Degenerative vitreoretinopathy Synonym: Definition: Tree level: 9 | Name or Synonym | 1 |
| 1:10 | RETINOPATHY | HP:0030490 | Exudative vitreoretinopathy | Term:HP:0030490 Exudative vitreoretinopathy Synonym: Definition: Tree level: 9 | Name or Synonym | 1 |
| 1:11 | RETINOPATHY | HP:0030673 | Erosive vitreoretinopathy | Term:HP:0030673 Erosive vitreoretinopathy Synonym: Definition: A form of vitreoretinopathy characterized by thinning (erosion) of the retinal pigment epithelium that permits increased visualization of the choroidal vessels. Tree level: 9 | Name or Synonym | 1 |
| 1:12 | RETINOPATHY | HP:0007814 | Retinal pigment epithelial mottling | Term:HP:0007814 Retinal pigment epithelial mottling Synonym: Focal hypopigmentation of the retinal pigment epithelium Definition: Mottling (Spots or blotches with different shades) of the retinal pigment epithelium. Tree level: 9 | Name or Synonym | 0 |
MSeqDR is developed by MSeqDR Consortium and hosted by the CHLA
Copyright 2013-2018 The MSeqDR Consortium
All rights reserved
Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen