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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: Pterygium (D011625)
..Starting node ..Pterygium Of Conjunctiva And Cornea (C566740)
Child Nodes:
Sister Nodes:
..Fetal akinesia syndrome, X-linked (C537921)
..Haspeslagh Fryns Muelenaere syndrome (C535844)
..Powell Chandra Saal syndrome (C538357)
..Pterygium colli mental retardation digital anomalies (C535831)
..Pterygium Of Conjunctiva And Cornea (C566740)
..Rubinstein Taybi like syndrome (C535877)
..Thompson Baraitser syndrome (C536515)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9458

Name:

Pterygium Of Conjunctiva And Cornea

Definition:

Alternative IDs:

OMIM:178000

ParentIDs:

MESH:D011625

TreeNumbers:

C11.187.781/C566740

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C566740
MeSH: C566740
OMIM: 178000;

Genes:

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000502	Abnormal conjunctiva morphology
3	HP:0001059	Pterygium

Disease Causing ClinVar Variants