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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: Eye Diseases, Hereditary (D015785)
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..Retinal Dystrophy, Early Onset Severe (C565741)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9723
Name:	Retinal Dystrophy, Early Onset Severe
Definition:
Alternative IDs:
ParentIDs:	MESH:D015785\|MESH:D058499
TreeNumbers:	C11.270/C565741 \|C11.768.585.658/C565741 \|C16.320.290/C565741
Synonyms:
Slim Mappings:	Eye disease\|Genetic disease (inborn)
Reference:	MedGen: C565741 MeSH: C565741 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants