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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 (C565209)
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:

10056

Name:

Sclerocornea

Definition:

Alternative IDs:

ParentIDs:

MESH:D003316

TreeNumbers:

C11.204/C565209

Synonyms:

Slim Mappings:

Eye disease

Reference:

MedGen: C565209
MeSH: C565209
OMIM: 269400;

Genes: PXDN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000356	Abnormality of the outer ear
3	HP:0000557	Buphthalmos	HP:0040283
4	HP:0000518	Cataract	HP:0040283
5	HP:0000482	Microcornea	HP:0040283
6	HP:0000568	Microphthalmia	HP:0040283
7	HP:0007700	Ocular anterior segment dysgenesis	HP:0040283
8	HP:0007906	Ocular hypertension	HP:0040283
9	HP:0000647	Sclerocornea

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
NM_012293.2(PXDN):c.2638C>T (p.Arg880Cys)	7837	PXDN	Pathogenic	587777572	RCV000128854;	N	MedGen:C1853235,OMIM:269400	2	1652914	1652914	NM_012293.2:c.2638C>T	NP_036425.1:p.Arg880Cys	2:g.1652914G>A	OMIM Allelic Variant:605158.0002	C1853235 269400 Sclerocornea, autosomal recessive
NM_012293.2(PXDN):c.2568delC (p.Cys857Alafs)	7837	PXDN	Pathogenic	587777571	RCV000128853;	N	MedGen:C1853235,OMIM:269400	2	1652984	1652984	NM_012293.2:c.2568delC	NP_036425.1:p.Cys857Alafs		OMIM Allelic Variant:605158.0001	C1853235 269400 Sclerocornea, autosomal recessive
NM_012293.2(PXDN):c.2375_2397del23 (p.Leu792Hisfs)	7837	PXDN	Pathogenic	587777573	RCV000128856;	N	MedGen:C1853235,OMIM:269400	2	1653155	1653177	NM_012293.2:c.2375_2397del23	NP_036425.1:p.Leu792Hisfs		OMIM Allelic Variant:605158.0004	C1853235 269400 Sclerocornea, autosomal recessive
NM_012293.2(PXDN):c.1021C>T (p.Arg341Ter)	7837	PXDN	Pathogenic	369535598	RCV000128855;	N	MedGen:C1853235,OMIM:269400	2	1670256	1670256	NM_012293.2:c.1021C>T	NP_036425.1:p.Arg341Ter	NC_000002.11:g.1670256G>A	OMIM Allelic Variant:605158.0003	C1853235 269400 Sclerocornea, autosomal recessive