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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 Dysplasia (D015792)
..Starting node ..Reese Retinal Dysplasia (C564854)
Child Nodes:
Sister Nodes:
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..Reese Retinal Dysplasia (C564854)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9628

Name:

Reese Retinal Dysplasia

Definition:

Alternative IDs:

ParentIDs:

MESH:D015792

TreeNumbers:

C11.250.666/C564854 |C11.270.660/C564854 |C11.768.660/C564854 |C16.131.384.784/C564854 |C16.320.290.660/C564854

Synonyms:

Slim Mappings:

Congenital abnormality|Eye disease|Genetic disease (inborn)

Reference:

MedGen: C564854
MeSH: C564854
OMIM: 266400;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0007968	Remnants of the hyaloid vascular system
3	HP:0007973	Retinal dysplasia

Disease Causing ClinVar Variants