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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 ..Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole (C564844)
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:

9724

Name:

Retinal Dystrophy, Reticular Pigmentary, of Posterior Pole

Definition:

Alternative IDs:

ParentIDs:

MESH:D058499

TreeNumbers:

C11.768.585.658/C564844

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C564844
MeSH: C564844
OMIM: 267800;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0011510	Drusen
3	HP:0007937	Reticular pigmentary degeneration
4	HP:0000556	Retinal dystrophy

Disease Causing ClinVar Variants