Human Phenotype Ontology

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:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome		116
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome		5
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome		7
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome		2
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis		59
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis		59
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome		92
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome		8
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome		353
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome		198
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated		263
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome		263
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2		263
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome		80
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3		80
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome		28
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome		11
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome		196
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome		196
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome		38
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome		31
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome		69
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome		33
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome		34
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome		60
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome		55
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome		140
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome		56
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome		7
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome		7
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0011226	HP:0011226	Aplasia/Hypoplasia of the eyelid	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011226	HP:0000625	Eyelid coloboma	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0011226	HP:0000625	Eyelid coloboma	1	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome		47
HP:0011226	HP:0000625	Eyelid coloboma	1	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3		5
HP:0011226	HP:0000625	Eyelid coloboma	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040282 - Frequent	5
HP:0011226	HP:0000625	Eyelid coloboma	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional	7
HP:0011226	HP:0000625	Eyelid coloboma	1	CDH11 CL E G H	1009	1750	ORPHA:1299	Branchioskeletogenital syndrome	HP:0040283 - Occasional	2
HP:0011226	HP:0000625	Eyelid coloboma	1	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0011226	HP:0000625	Eyelid coloboma	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0011226	HP:0000625	Eyelid coloboma	1	DHODH CL E G H	1723	2867	OMIM:263750	Postaxial acrofacial dysostosis	.	59
HP:0011226	HP:0000625	Eyelid coloboma	1	DHODH CL E G H	1723	2867	ORPHA:246	Postaxial acrofacial dysostosis	HP:0040281 - Very frequent	59
HP:0011226	HP:0000625	Eyelid coloboma	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0011226	HP:0430009	Hypoplasia of eyelid	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011226	HP:0000625	Eyelid coloboma	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0011226	HP:0000625	Eyelid coloboma	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0011226	HP:0000625	Eyelid coloboma	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0011226	HP:0000625	Eyelid coloboma	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome		353
HP:0011226	HP:0001126	Cryptophthalmos	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0011226	HP:0001126	Cryptophthalmos	1	FRAS1 CL E G H	80144	19185	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	353
HP:0011226	HP:0000625	Eyelid coloboma	1	FREM1 CL E G H	158326	23399	OMIM:248450	Manitoba oculotrichoanal syndrome	.	198
HP:0011226	HP:0000625	Eyelid coloboma	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome		198
HP:0011226	HP:0001126	Cryptophthalmos	1	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040283 - Occasional	198
HP:0011226	HP:0001126	Cryptophthalmos	1	FREM2 CL E G H	341640	25396	OMIM:123570	Cryptophthalmos, unilateral or bilateral, isolated		263
HP:0011226	HP:0001126	Cryptophthalmos	1	FREM2 CL E G H	341640	25396	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	263
HP:0011226	HP:0001126	Cryptophthalmos	1	FREM2 CL E G H	341640	25396	OMIM:617666	Fraser syndrome 2	.	263
HP:0011226	HP:0001126	Cryptophthalmos	1	GRIP1 CL E G H	23426	18708	ORPHA:2052	Fraser syndrome	HP:0040281 - Very frequent	80
HP:0011226	HP:0001126	Cryptophthalmos	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.	80
HP:0011226	HP:0000625	Eyelid coloboma	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0011226	HP:0000625	Eyelid coloboma	1	KCTD1 CL E G H	284252	18249	ORPHA:2036	Scalp-ear-nipple syndrome	HP:0040283 - Occasional	11
HP:0011226	HP:0000625	Eyelid coloboma	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0011226	HP:0000625	Eyelid coloboma	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040283 - Occasional	196
HP:0011226	HP:0000625	Eyelid coloboma	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0011226	HP:0001126	Cryptophthalmos	1	MAB21L2 CL E G H	10586	6758	OMIM:615877	Microphthalmia/coloboma and skeletal dysplasia syndrome		5
HP:0011226	HP:0011224	Ablepharon	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0011226	HP:0011224	Ablepharon	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3		38
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0011226	HP:0000625	Eyelid coloboma	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0011226	HP:0011224	Ablepharon	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0011226	HP:0000625	Eyelid coloboma	1	RIPK4 CL E G H	54101	496	ORPHA:1234	Bartsocas-Papas syndrome	HP:0040282 - Frequent	69
HP:0011226	HP:0011224	Ablepharon	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011226	HP:0000625	Eyelid coloboma	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011226	HP:0000625	Eyelid coloboma	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0011226	HP:0000625	Eyelid coloboma	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0011226	HP:0000625	Eyelid coloboma	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0011226	HP:0000625	Eyelid coloboma	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0011226	HP:0000625	Eyelid coloboma	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0011226	HP:0000625	Eyelid coloboma	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0011226	HP:0000625	Eyelid coloboma	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0011226	HP:0000625	Eyelid coloboma	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type		49
HP:0011226	HP:0000625	Eyelid coloboma	1	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome		49
HP:0011226	HP:0000625	Eyelid coloboma	1	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome
HP:0011226	HP:0000625	Eyelid coloboma	1	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0011226	HP:0000625	Eyelid coloboma	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0011226	HP:0000625	Eyelid coloboma	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0011226	HP:0000625	Eyelid coloboma	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome		18
HP:0011226	HP:0001126	Cryptophthalmos	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040282 - Frequent	7
HP:0011226	HP:0011224	Ablepharon	1	TWIST2 CL E G H	117581	20670	ORPHA:920	Ablepharon macrostomia syndrome	HP:0040281 - Very frequent	7
HP:0011226	HP:0001126	Cryptophthalmos	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0011226	HP:0011224	Ablepharon	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome	.	7
HP:0011226	HP:0430009	Hypoplasia of eyelid	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome		7
HP:0011226	HP:0011224	Ablepharon	1	TWIST2 CL E G H	117581	20670	ORPHA:1231	Barber-Say syndrome	HP:0040283 - Occasional	7
HP:0011226	HP:0000625	Eyelid coloboma	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome		19
HP:0011226	HP:0430009	Hypoplasia of eyelid	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0011226	HP:0040032	Hypoplasia of the upper eyelids	2	CL E G H
HP:0011226	HP:0000636	Upper eyelid coloboma	2	ALX1 CL E G H	8092	1494	OMIM:613456	Frontonasal dysplasia 3	.	5
HP:0011226	HP:0000636	Upper eyelid coloboma	2	CDH11 CL E G H	1009	1750	OMIM:619736	TEEBI HYPERTELORISM SYNDROME 2; TBHS2		2
HP:0011226	HP:0000652	Lower eyelid coloboma	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0011226	HP:0007697	Hypoplasia of the lower eyelids	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0011226	HP:0000636	Upper eyelid coloboma	2	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.	353
HP:0011226	HP:0000636	Upper eyelid coloboma	2	FREM1 CL E G H	158326	23399	ORPHA:2717	Oculotrichoanal syndrome	HP:0040281 - Very frequent	198
HP:0011226	HP:0000652	Lower eyelid coloboma	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0011226	HP:0000636	Upper eyelid coloboma	2	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type		8
HP:0011226	HP:0000652	Lower eyelid coloboma	2	POLR1B CL E G H	84172	20454	OMIM:618939	TREACHER COLLINS SYNDROME 4; TCS4
HP:0011226	HP:0000652	Lower eyelid coloboma	2	POLR1C CL E G H	9533	20194	OMIM:248390	Treacher collins syndrome 3	.	38
HP:0011226	HP:0000652	Lower eyelid coloboma	2	POLR1D CL E G H	51082	20422	OMIM:613717	Treacher collins syndrome 2		31
HP:0011226	HP:0000652	Lower eyelid coloboma	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0011226	HP:0000636	Upper eyelid coloboma	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0011226	HP:0000652	Lower eyelid coloboma	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.	49
HP:0011226	HP:0000652	Lower eyelid coloboma	2	SF3B4 CL E G H	10262	10771	ORPHA:245	Nager syndrome	HP:0040282 - Frequent	49
HP:0011226	HP:0000636	Upper eyelid coloboma	2	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040283 - Occasional
HP:0011226	HP:0000652	Lower eyelid coloboma	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome	.	140
HP:0011226	HP:0000636	Upper eyelid coloboma	2	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome		140
HP:0011226	HP:0000636	Upper eyelid coloboma	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.	18
HP:0011226	HP:0000652	Lower eyelid coloboma	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.	19