Human Phenotype Ontology

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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

Grandparent Node:
Abnormal eyelid morphology (HP:0000492)

Parent Node:
Aplasia/Hypoplasia of the eyelid (HP:0011226)

..Starting node
..Eyelid coloboma (HP:0000625)

Term ID:

625

Name:

Eyelid coloboma

Synonym:

Cleft eyelid; Full thickness defect of the eyelid; Notched eyelid

Definition:

A short discontinuity of the margin of the lower or upper eyelid.

Comments:

Reference:

HP:0000625

Genes and Diseases:

Child Nodes:

........

Upper eyelid coloboma (HP:0000636)

........

Lower eyelid coloboma (HP:0000652)

Sister Nodes:

Ablepharon (HP:0011224)

Cryptophthalmos (HP:0001126)

Hypoplasia of eyelid (HP:0430009)

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:0000625	HP:0000625	Eyelid coloboma	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0000625	HP:0000625	Eyelid coloboma	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0000625	HP:0000625	Eyelid coloboma	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0000625	HP:0000625	Eyelid coloboma	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0000625	HP:0000625	Eyelid coloboma	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0000625	HP:0000625	Eyelid coloboma	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040283 - Occasional	2
HP:0000625	HP:0000625	Eyelid coloboma	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000625	HP:0000625	Eyelid coloboma	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0000625	HP:0000625	Eyelid coloboma	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0000625	HP:0000625	Eyelid coloboma	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0000625	HP:0000625	Eyelid coloboma	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0000625	HP:0000625	Eyelid coloboma	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0000625	HP:0000625	Eyelid coloboma	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0000625	HP:0000625	Eyelid coloboma	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0000625	HP:0000625	Eyelid coloboma	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0000625	HP:0000625	Eyelid coloboma	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0000625	HP:0000625	Eyelid coloboma	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0000625	HP:0000625	Eyelid coloboma	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0000625	HP:0000625	Eyelid coloboma	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0000625	HP:0000625	Eyelid coloboma	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0000625	HP:0000625	Eyelid coloboma	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0000625	HP:0000625	Eyelid coloboma	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000625	HP:0000625	Eyelid coloboma	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0000625	HP:0000625	Eyelid coloboma	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent	69
HP:0000625	HP:0000625	Eyelid coloboma	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000625	HP:0000625	Eyelid coloboma	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0000625	HP:0000625	Eyelid coloboma	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0000625	HP:0000625	Eyelid coloboma	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0000625	HP:0000625	Eyelid coloboma	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0000625	HP:0000625	Eyelid coloboma	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0000625	HP:0000625	Eyelid coloboma	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0000625	HP:0000625	Eyelid coloboma	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0000625	HP:0000625	Eyelid coloboma	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0000625	HP:0000625	Eyelid coloboma	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0000625	HP:0000625	Eyelid coloboma	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0000625	HP:0000625	Eyelid coloboma	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000625	HP:0000625	Eyelid coloboma	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0000625	HP:0000625	Eyelid coloboma	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0000625	HP:0000625	Eyelid coloboma	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0000625	HP:0000625	Eyelid coloboma	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0000625	HP:0000636	Upper eyelid coloboma	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0000625	HP:0000636	Upper eyelid coloboma	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0000625	HP:0000652	Lower eyelid coloboma	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0000625	HP:0000636	Upper eyelid coloboma	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0000625	HP:0000636	Upper eyelid coloboma	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040281 - Very frequent	198
HP:0000625	HP:0000652	Lower eyelid coloboma	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000625	HP:0000636	Upper eyelid coloboma	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0000625	HP:0000652	Lower eyelid coloboma	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0000625	HP:0000652	Lower eyelid coloboma	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0000625	HP:0000652	Lower eyelid coloboma	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0000625	HP:0000652	Lower eyelid coloboma	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0000625	HP:0000636	Upper eyelid coloboma	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0000625	HP:0000652	Lower eyelid coloboma	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0000625	HP:0000652	Lower eyelid coloboma	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0000625	HP:0000636	Upper eyelid coloboma	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040283 - Occasional
HP:0000625	HP:0000652	Lower eyelid coloboma	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0000625	HP:0000636	Upper eyelid coloboma	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0000625	HP:0000636	Upper eyelid coloboma	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0000625	HP:0000652	Lower eyelid coloboma	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19

Genes (35) :ADAR ADNP ALX1 CCNQ CDH11 CHD7 DHODH EDNRA ESCO2 FGFR1 FLI1 FRAS1 FREM1 IFIH1 KCTD1 KRAS LSM11 POLR1A POLR1B POLR1C POLR1D RIPK4 RNASEH2A RNASEH2B RNASEH2C RNU7-1 SAMHD1 SEMA3E SF3B2 SF3B4 SLC25A24 TCOF1 TREX1 TWIST1 TXNL4A

Diseases (34) :ORPHA:51 OMIM:615873 OMIM:613456 ORPHA:306542 ORPHA:140952 ORPHA:1299 OMIM:619736 ORPHA:138 OMIM:263750 ORPHA:246 OMIM:616367 OMIM:268300 OMIM:613001 ORPHA:2308 OMIM:219000 OMIM:248450 ORPHA:2717 ORPHA:2036 OMIM:600268 ORPHA:3339 OMIM:616462 OMIM:618939 ORPHA:861 OMIM:248390 OMIM:613717 ORPHA:1234 OMIM:263650 OMIM:164210 OMIM:154400 ORPHA:245 ORPHA:2095 OMIM:154500 OMIM:617746 OMIM:608572

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

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