Disease browser and phenotype portal

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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: Corneal Diseases (D003316)
..Starting node ..Keratitis (D007634)
Child Nodes:
........Acanthamoeba Keratitis (D015823)
........Corneal Ulcer (D003320) 1
........Dermatoosteolysis Kirghizian type (C535373)
........Keratitis Fugax Hereditaria (C563650)
........Keratitis, hereditary (C537022)
........Keratitis, Herpetic (D016849) 1
........Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
........Keratitis-Ichthyosis-Deafness Syndrome (C580224)
........Keratoconjunctivitis (D007637) 3
Sister Nodes:
..Arnold Stickler Bourne syndrome (C537431)
..Cataract microcornea syndrome (C538287)
..Cornea Plana 1 (C565158)
..Cornea Plana 2 (C565677)
..Corneal Dystrophies, Hereditary (D003317) 61
..Corneal Edema (D015715)
..Corneal Endothelial Cell Loss (D055954)
..Corneal hypesthesia, familial (C536440)
..Corneal Injuries (D065306) 1
..Corneal Neovascularization (D016510)
..Corneal Opacity (D003318) 10
..Corneal Wavefront Aberration (D057108)
..Dermoids of cornea (C535376)
..Iridocorneal Endothelial Syndrome (D057129)
..Keratitis (D007634) 14
..Keratoconus (D007640) 9
..Macrophthalmia, Colobomatous, with Microcornea (C566533)
..Microspherophakia (C563255)
..Neuhauser syndrome (C536143)
..Ramos Arroyo Clark syndrome (C535286)
..Ring dermoid of cornea (C535684)
..Sclerocornea (C565209)
..Sclerocornea, Autosomal Dominant (C566692)
..Stern Lubinsky Durrie syndrome (C537488)
..Trachoma (D014141)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	6041
Name:	Keratitis
Definition:	Inflammation of the cornea.
Alternative IDs:
ParentIDs:	MESH:D003316
TreeNumbers:	C11.204.564
Synonyms:	Keratitides
Slim Mappings:	Eye disease
Reference:	MedGen: D007634 MeSH: D007634 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants