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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 ..Sclerocornea, Autosomal Dominant (C566692)
Child Nodes:
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:

10057

Name:

Sclerocornea, Autosomal Dominant

Definition:

Alternative IDs:

ParentIDs:

MESH:D003316

TreeNumbers:

C11.204/C566692

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C566692
MeSH: C566692
OMIM: 181700;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000647	Sclerocornea

Disease Causing ClinVar Variants