Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal cornea morphology (HP:0000481)

Parent Node:
Corneal opacity (HP:0007957)

..Starting node
..Sclerocornea (HP:0000647)

Term ID:

647

Name:

Sclerocornea

Synonym:

Hardening of skin and connective tissue

Definition:

A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea.

Comments:

Reference:

HP:0000647

Genes and Diseases:

Child Nodes:

Sister Nodes:

Corneal scarring (HP:0000559)

Kayser-Fleischer ring (HP:0200032)

Opacification of the corneal epithelium (HP:0007727)

Opacification of the corneal stroma (HP:0007759)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000647	HP:0000647	Sclerocornea	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0000647	HP:0000647	Sclerocornea	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	28
HP:0000647	HP:0000647	Sclerocornea	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	34
HP:0000647	HP:0000647	Sclerocornea	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional	38
HP:0000647	HP:0000647	Sclerocornea	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0000647	HP:0000647	Sclerocornea	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	247
HP:0000647	HP:0000647	Sclerocornea	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000647	HP:0000647	Sclerocornea	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	342
HP:0000647	HP:0000647	Sclerocornea	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	6
HP:0000647	HP:0000647	Sclerocornea	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000647	HP:0000647	Sclerocornea	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	1
HP:0000647	HP:0000647	Sclerocornea	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	57
HP:0000647	HP:0000647	Sclerocornea	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000647	HP:0000647	Sclerocornea	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000647	HP:0000647	Sclerocornea	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000647	HP:0000647	Sclerocornea	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	111
HP:0000647	HP:0000647	Sclerocornea	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.	111
HP:0000647	HP:0000647	Sclerocornea	0	FOXE3 CL E G H	2301	3808	OMIM:610256	Anterior segment dysgenesis 2	.	23
HP:0000647	HP:0000647	Sclerocornea	0	FOXE3 CL E G H	2301	3808	ORPHA:83461	Congenital primary aphakia	HP:0040282 - Frequent	23
HP:0000647	HP:0000647	Sclerocornea	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	11
HP:0000647	HP:0000647	Sclerocornea	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000647	HP:0000647	Sclerocornea	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome	.	2
HP:0000647	HP:0000647	Sclerocornea	0	KERA CL E G H	11081	6309	OMIM:217300	Cornea plana 2		8
HP:0000647	HP:0000647	Sclerocornea	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	2
HP:0000647	HP:0000647	Sclerocornea	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome	HP:0040283 - Occasional	5
HP:0000647	HP:0000647	Sclerocornea	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0000647	HP:0000647	Sclerocornea	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	127
HP:0000647	HP:0000647	Sclerocornea	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040281 - Very frequent	39
HP:0000647	HP:0000647	Sclerocornea	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040281 - Very frequent	3
HP:0000647	HP:0000647	Sclerocornea	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000647	HP:0000647	Sclerocornea	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0000647	HP:0000647	Sclerocornea	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	118
HP:0000647	HP:0000647	Sclerocornea	0	PAX6 CL E G H	5080	8620	OMIM:604229	Anterior segment dysgenesis 5, multiple subtypes	.	194
HP:0000647	HP:0000647	Sclerocornea	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional	7
HP:0000647	HP:0000647	Sclerocornea	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0000647	HP:0000647	Sclerocornea	0	PXDN CL E G H	7837	14966	OMIM:269400	Corneal opacification with other ocular anomalies	.	22
HP:0000647	HP:0000647	Sclerocornea	0	RAX CL E G H	30062	18662	OMIM:611038	Microphthalmia, isolated 3	.	43
HP:0000647	HP:0000647	Sclerocornea	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	109
HP:0000647	HP:0000647	Sclerocornea	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	167
HP:0000647	HP:0000647	Sclerocornea	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	HP:0040283 - Occasional	11
HP:0000647	HP:0000647	Sclerocornea	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3		20
HP:0000647	HP:0000647	Sclerocornea	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0000647	HP:0000647	Sclerocornea	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0000647	HP:0000647	Sclerocornea	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3		33
HP:0000647	HP:0000647	Sclerocornea	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0000647	HP:0000647	Sclerocornea	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000647	HP:0000647	Sclerocornea	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	76
HP:0000647	HP:0000647	Sclerocornea	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	31
HP:0000647	HP:0000647	Sclerocornea	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000647	HP:0000647	Sclerocornea	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	4
HP:0000647	HP:0000647	Sclerocornea	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	45
HP:0000647	HP:0000647	Sclerocornea	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	33
HP:0000647	HP:0000647	Sclerocornea	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	82
HP:0000647	HP:0000647	Sclerocornea	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	166
HP:0000647	HP:0000647	Sclerocornea	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent	2
HP:0000647	HP:0000647	Sclerocornea	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent	6

Genes (49) :B3GALT6 B9D1 B9D2 BMP4 CC2D2A CENPF CEP290 COX7B CPLX1 CSPP1 CTBP1 DHCR7 FGFR1 FIG4 FOXE3 HCCS HMX1 KERA LETM1 MAB21L2 MAPKAPK5 MKS1 NDP NDUFB11 NELFA NSD2 PAX6 PIGG PRDM5 PXDN RAX RPGRIP1 RPGRIP1L SCARF2 SIX6 SLC25A24 SOX2 TBX1 TCTN1 TCTN2 TCTN3 TENM3 TMEM107 TMEM216 TMEM231 TMEM237 TMEM67 TXNDC15 VAC14

Diseases (29) :OMIM:609465 ORPHA:564 ORPHA:139471 OMIM:607932 OMIM:243605 ORPHA:2556 OMIM:309801 ORPHA:280 ORPHA:818 OMIM:613001 ORPHA:3472 OMIM:216340 OMIM:610256 ORPHA:83461 OMIM:612109 OMIM:217300 OMIM:615877 OMIM:619869 ORPHA:649 OMIM:604229 OMIM:614170 OMIM:269400 OMIM:611038 OMIM:600920 OMIM:206900 ORPHA:2095 ORPHA:77298 OMIM:188400 OMIM:615145

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen