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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: Retinal Degeneration (D012162)
..Starting node ..MacKay Shek Carr syndrome (C538364)
Child Nodes:
Sister Nodes:
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Enhanced S-Cone Syndrome (C564835)
..Hyaloideoretinal degeneration of Wagner (C536075)
..Joubert syndrome 4 (C536296)
..Late-Onset Retinal Degeneration (C565309)
..Lattice Degeneration of Retina Leading to Retinal Detachment (C563633)
..MacKay Shek Carr syndrome (C538364)
..Macular Degeneration (D008268) 28
..Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies (C566884)
..Noble Bass Sherman syndrome (C536124)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Retinal Cone Dystrophy 1 (C566719)
..Retinal Degeneration and Epilepsy (C564847)
..Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type (C563527)
..Retinal Drusen (D015593) 2
..Retinal Dystrophies (D058499) 143
..Retinoschisis (D041441) 1
..Snowflake vitreoretinal degeneration (C536677)
..Spastic paraplegia 15, autosomal recessive (C536642)
..Sveinsson Chorioretinal Atrophy (C566236)
..Vitreoretinochoroidopathy (C536352)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6653
Name:	MacKay Shek Carr syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D005901\|MESH:D012162
TreeNumbers:	C11.525.381/C538364 \|C11.768.585/C538364
Synonyms:	Retinal degeneration, nanophthalmos, glaucoma \|Retinal Degeneration with Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma
Slim Mappings:	Eye disease
Reference:	MedGen: C538364 MeSH: C538364 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants