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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: Glaucoma (D005901)
Parent Node: Microphthalmos (D008850)
Parent Node: Retinal Dystrophies (D058499)
..Starting node ..Ghose Sachdev Kumar syndrome (C537803)
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:	4586
Name:	Ghose Sachdev Kumar syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D005901\|MESH:D008850\|MESH:D058499
TreeNumbers:	C11.250.566/C537803 \|C11.525.381/C537803 \|C11.768.585.658/C537803 \|C16.131.384.666/C537803
Synonyms:
Slim Mappings:	Congenital abnormality\|Eye disease
Reference:	MedGen: C537803 MeSH: C537803 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants