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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: Keratoconus (D007640)
..Starting node ..Keratoconus posticus circumscriptus (C536151)
Child Nodes:
Sister Nodes:
..Keratoconus 1 (C563649)
..Keratoconus 2 (C563827)
..Keratoconus 3 (C563900)
..Keratoconus 4 (C563752)
..Keratoconus And Congenital Hip Dysplasia (C565456)
..Keratoconus posticus circumscriptus (C536151)
..Keratoconus Posticus Circumscriptus with Associated Malformations (C565455)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Noninflammatory corneal thinning (C531720)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6060

Name:

Keratoconus posticus circumscriptus

Definition:

Alternative IDs:

ParentIDs:

MESH:D007640

TreeNumbers:

C11.204.627/C536151

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C536151
MeSH: C536151
OMIM: 244600;

Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005640	Abnormal vertebral segmentation and fusion
3	HP:0001156	Brachydactyly
4	HP:0008511	Central posterior corneal opacity
5	HP:0000175	Cleft palate
6	HP:0000204	Cleft upper lip
7	HP:0004209	Clinodactyly of the 5th finger
8	HP:0001263	Global developmental delay
9	HP:0001510	Growth delay
10	HP:0000316	Hypertelorism
11	HP:0000563	Keratoconus
12	HP:0005852	Limited elbow extension and supination
13	HP:0000010	Recurrent urinary tract infections
14	HP:0000470	Short neck
15	HP:0000076	Vesicoureteral reflux
16	HP:0000465	Webbed neck

Disease Causing ClinVar Variants