Disease browser and phenotype portal

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MSeqDR-LSDB
Tools
- Quick-Mitome for WES
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- mtDNA Tool:
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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: Retinal Degeneration (D012162)
..Starting node ..Retinal Dystrophies (D058499)
Child Nodes:
........Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism (C565850)
........CONE-ROD DYSTROPHY 15 (OMIM:613660)
........CONE-ROD DYSTROPHY 9 (OMIM:612775)
........CONE-ROD DYSTROPHY, X-LINKED, 1 (OMIM:304020)
........Ghose Sachdev Kumar syndrome (C537803)
........Patterned dystrophy of retinal pigment epithelium (C536309)
........Reticular Dystrophy Of Retinal Pigment Epithelium (C566721)
........Retinal Dystrophy, Early Onset Severe (C565741)
........Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole (C564844)
........Retinitis Pigmentosa (D012174) 132
........Retinopathy, Pericentral Pigmentary, Dominant (C566713)
Sister Nodes:
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Enhanced S-Cone Syndrome (C564835)
..Hyaloideoretinal degeneration of Wagner (C536075)
..Joubert syndrome 4 (C536296)
..Late-Onset Retinal Degeneration (C565309)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..MacKay Shek Carr syndrome (C538364)
..Macular Degeneration (D008268) 28
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..Noble Bass Sherman syndrome (C536124)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Retinal Cone Dystrophy 1 (C566719)
..Retinal Degeneration and Epilepsy (C564847)
..Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..Retinal Drusen (D015593) 2
..Retinal Dystrophies (D058499) 143
..Retinoschisis (D041441) 1
..Snowflake vitreoretinal degeneration (C536677)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Sveinsson Chorioretinal Atrophy (C566236)
..Vitreoretinochoroidopathy (C536352)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9722
Name:	Retinal Dystrophies
Definition:	A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues.
Alternative IDs:
ParentIDs:	MESH:D012162
TreeNumbers:	C11.768.585.658
Synonyms:	Dystrophies, Retinal \|Dystrophy, Retinal \|Retinal Dystrophy
Slim Mappings:	Eye disease
Reference:	MedGen: D058499 MeSH: D058499 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants