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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: Retinal Dystrophies (D058499)
..Starting node ..Reticular Dystrophy Of Retinal Pigment Epithelium (C566721)
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:

9702

Name:

Reticular Dystrophy Of Retinal Pigment Epithelium

Definition:

Alternative IDs:

ParentIDs:

MESH:D058499

TreeNumbers:

C11.768.585.658/C566721

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C566721
MeSH: C566721
OMIM: 179840;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0030454	Abnormal electrooculogram
3	HP:0000662	Nyctalopia	HP:0040283
4	HP:0000580	Pigmentary retinopathy

Disease Causing ClinVar Variants