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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: Conjunctival Diseases (D003229)
Parent Node: Corneal Diseases (D003316)
Parent Node: Dermoid Cyst (D003884)
..Starting node ..Ring dermoid of cornea (C535684)
Child Nodes:
Sister Nodes:
..46,XX Gonadal dysgenesis epibulbar dermoid (C535316)
..Aplasia Cutis Congenita with Epibulbar Dermoids (C563969)
..Dermoid Cysts, Familial Frontonasal (C563455)
..Ring dermoid of cornea (C535684)
..Zadik Barak Levin syndrome (C536721)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9879

Name:

Ring dermoid of cornea

Definition:

Alternative IDs:

OMIM:180550

ParentIDs:

MESH:D003229|MESH:D003316|MESH:D003884

TreeNumbers:

C04.182.201/C535684 |C04.557.465.910.250/C535684 |C11.187/C535684 |C11.204/C535684

Synonyms:

Bilateral, annular limbal dermoids with corneal and conjunctival extension |RDC |Ring dermoid syndrome

Slim Mappings:

Cancer|Eye disease

Reference:

MedGen: C535684
MeSH: C535684
OMIM: 180550;

Genes: PITX2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000502	Abnormal conjunctiva morphology
3	HP:0000481	Abnormal cornea morphology

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_153427.2(PITX2):c.185G>A (p.Arg62His)	5308	PITX2	Pathogenic	104893862	RCV000008562;	N	MedGen:C1867155,OMIM:180550,ORPHA:91481	4	111542387	111542387	NM_153427.2:c.185G>A	NP_700476.1:p.Arg62His	NC_000004.11:g.111542387C>T	OMIM Allelic Variant:601542.0012	C1867155 180550 Ring dermoid of cornea