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:
Abnormality of the orbital region (HP:0000315)

Parent Node:
Abnormality iris morphology (HP:0000525)

Parent Node:
Coloboma (HP:0000589)

..Starting node
..Iris coloboma (HP:0000612)

Term ID:

612

Name:

Iris coloboma

Synonym:

Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris

Definition:

A coloboma of the iris.

Comments:

Reference:

HP:0000612

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chorioretinal coloboma (HP:0000567)

Ciliary body coloboma (HP:0020006)

Lens coloboma (HP:0100719)

Optic disc coloboma (HP:0000588)

Retinal coloboma (HP:0000480)

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:0000612	HP:0000612	Iris coloboma	0	AAAS CL E G H	8086	13666	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	57
HP:0000612	HP:0000612	Iris coloboma	0	ACTB CL E G H	60	132	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	72
HP:0000612	HP:0000612	Iris coloboma	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0000612	HP:0000612	Iris coloboma	0	ACTG1 CL E G H	71	144	ORPHA:2995	Baraitser-Winter cerebrofrontofacial syndrome	HP:0040281 - Very frequent	123
HP:0000612	HP:0000612	Iris coloboma	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040284 - Very rare	47
HP:0000612	HP:0000612	Iris coloboma	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	175
HP:0000612	HP:0000612	Iris coloboma	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000612	HP:0000612	Iris coloboma	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040282 - Frequent	46
HP:0000612	HP:0000612	Iris coloboma	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0000612	HP:0000612	Iris coloboma	0	ALG3 CL E G H	10195	23056	OMIM:601110	Congenital disorder of glycosylation, type Id	.	37
HP:0000612	HP:0000612	Iris coloboma	0	ALX3 CL E G H	257	449	ORPHA:391474	Frontorhiny	HP:0040282 - Frequent	9
HP:0000612	HP:0000612	Iris coloboma	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0000612	HP:0000612	Iris coloboma	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	62
HP:0000612	HP:0000612	Iris coloboma	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000612	HP:0000612	Iris coloboma	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	HP:0040283 - Occasional	4
HP:0000612	HP:0000612	Iris coloboma	0	ATP6V1A CL E G H	523	851	OMIM:618012	Epileptic encephalopathy, infantile or early childhood, 3	.	3
HP:0000612	HP:0000612	Iris coloboma	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	43
HP:0000612	HP:0000612	Iris coloboma	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0000612	HP:0000612	Iris coloboma	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000612	HP:0000612	Iris coloboma	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	17
HP:0000612	HP:0000612	Iris coloboma	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	28
HP:0000612	HP:0000612	Iris coloboma	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	34
HP:0000612	HP:0000612	Iris coloboma	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000612	HP:0000612	Iris coloboma	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0000612	HP:0000612	Iris coloboma	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0000612	HP:0000612	Iris coloboma	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0000612	HP:0000612	Iris coloboma	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent	38
HP:0000612	HP:0000612	Iris coloboma	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000612	HP:0000612	Iris coloboma	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent	13
HP:0000612	HP:0000612	Iris coloboma	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	1
HP:0000612	HP:0000612	Iris coloboma	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	247
HP:0000612	HP:0000612	Iris coloboma	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	247
HP:0000612	HP:0000612	Iris coloboma	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000612	HP:0000612	Iris coloboma	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	200
HP:0000612	HP:0000612	Iris coloboma	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.	27
HP:0000612	HP:0000612	Iris coloboma	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	5
HP:0000612	HP:0000612	Iris coloboma	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	7
HP:0000612	HP:0000612	Iris coloboma	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000612	HP:0000612	Iris coloboma	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	342
HP:0000612	HP:0000612	Iris coloboma	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	90
HP:0000612	HP:0000612	Iris coloboma	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000612	HP:0000612	Iris coloboma	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome		515
HP:0000612	HP:0000612	Iris coloboma	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	515
HP:0000612	HP:0000612	Iris coloboma	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000612	HP:0000612	Iris coloboma	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	193
HP:0000612	HP:0000612	Iris coloboma	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0000612	HP:0000612	Iris coloboma	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	1
HP:0000612	HP:0000612	Iris coloboma	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome		1
HP:0000612	HP:0000612	Iris coloboma	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	CRYAA CL E G H	1409	2388	OMIM:604219	Cataract 9, multiple types	HP:0040283 - Occasional	33
HP:0000612	HP:0000612	Iris coloboma	0	CRYAA CL E G H	1409	2388	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	33
HP:0000612	HP:0000612	Iris coloboma	0	CRYBA4 CL E G H	1413	2396	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	10
HP:0000612	HP:0000612	Iris coloboma	0	CRYBB1 CL E G H	1414	2397	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	18
HP:0000612	HP:0000612	Iris coloboma	0	CRYBB2 CL E G H	1415	2398	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	13
HP:0000612	HP:0000612	Iris coloboma	0	CRYGC CL E G H	1420	2410	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	11
HP:0000612	HP:0000612	Iris coloboma	0	CRYGD CL E G H	1421	2411	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	29
HP:0000612	HP:0000612	Iris coloboma	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	57
HP:0000612	HP:0000612	Iris coloboma	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000612	HP:0000612	Iris coloboma	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000612	HP:0000612	Iris coloboma	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000612	HP:0000612	Iris coloboma	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	108
HP:0000612	HP:0000612	Iris coloboma	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0000612	HP:0000612	Iris coloboma	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	22
HP:0000612	HP:0000612	Iris coloboma	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	3
HP:0000612	HP:0000612	Iris coloboma	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare	134
HP:0000612	HP:0000612	Iris coloboma	0	ELP4 CL E G H	26610	1171	OMIM:617141	Aniridia 2		4
HP:0000612	HP:0000612	Iris coloboma	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	12
HP:0000612	HP:0000612	Iris coloboma	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional	18
HP:0000612	HP:0000612	Iris coloboma	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	17
HP:0000612	HP:0000612	Iris coloboma	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0000612	HP:0000612	Iris coloboma	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	HP:0040283 - Occasional	172
HP:0000612	HP:0000612	Iris coloboma	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	172
HP:0000612	HP:0000612	Iris coloboma	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional	175
HP:0000612	HP:0000612	Iris coloboma	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0000612	HP:0000612	Iris coloboma	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	157
HP:0000612	HP:0000612	Iris coloboma	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	184
HP:0000612	HP:0000612	Iris coloboma	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional	8
HP:0000612	HP:0000612	Iris coloboma	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.	493
HP:0000612	HP:0000612	Iris coloboma	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0000612	HP:0000612	Iris coloboma	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	48
HP:0000612	HP:0000612	Iris coloboma	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	2
HP:0000612	HP:0000612	Iris coloboma	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0000612	HP:0000612	Iris coloboma	0	GJA8 CL E G H	2703	4281	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	34
HP:0000612	HP:0000612	Iris coloboma	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	173
HP:0000612	HP:0000612	Iris coloboma	0	GMPPA CL E G H	29926	22923	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	24
HP:0000612	HP:0000612	Iris coloboma	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0000612	HP:0000612	Iris coloboma	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	HP:0040284 - Very rare
HP:0000612	HP:0000612	Iris coloboma	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0000612	HP:0000612	Iris coloboma	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000612	HP:0000612	Iris coloboma	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0000612	HP:0000612	Iris coloboma	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	31
HP:0000612	HP:0000612	Iris coloboma	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent	5
HP:0000612	HP:0000612	Iris coloboma	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0000612	HP:0000612	Iris coloboma	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	111
HP:0000612	HP:0000612	Iris coloboma	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	111
HP:0000612	HP:0000612	Iris coloboma	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0000612	HP:0000612	Iris coloboma	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	KCTD1 CL E G H	284252	18249	OMIM:181270	Scalp-Ear-Nipple syndrome	HP:0040283 - Occasional	11
HP:0000612	HP:0000612	Iris coloboma	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	24
HP:0000612	HP:0000612	Iris coloboma	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040282 - Frequent
HP:0000612	HP:0000612	Iris coloboma	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0000612	HP:0000612	Iris coloboma	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0000612	HP:0000612	Iris coloboma	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	136
HP:0000612	HP:0000612	Iris coloboma	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	2
HP:0000612	HP:0000612	Iris coloboma	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome		2
HP:0000612	HP:0000612	Iris coloboma	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040283 - Occasional	289
HP:0000612	HP:0000612	Iris coloboma	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome		289
HP:0000612	HP:0000612	Iris coloboma	0	MAF CL E G H	4094	6776	OMIM:610202	Cataract 21, multiple types	.	21
HP:0000612	HP:0000612	Iris coloboma	0	MAF CL E G H	4094	6776	ORPHA:1377	Cataract-microcornea syndrome	HP:0040283 - Occasional	21
HP:0000612	HP:0000612	Iris coloboma	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000612	HP:0000612	Iris coloboma	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040282 - Frequent	22
HP:0000612	HP:0000612	Iris coloboma	0	MED12L CL E G H	116931	16050	OMIM:618872	NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000612	HP:0000612	Iris coloboma	0	MIR204 CL E G H	406987	31582	OMIM:616722	Retinal dystrophy and iris coloboma with or without congenital cataract		1
HP:0000612	HP:0000612	Iris coloboma	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	127
HP:0000612	HP:0000612	Iris coloboma	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0000612	HP:0000612	Iris coloboma	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0000612	HP:0000612	Iris coloboma	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0000612	HP:0000612	Iris coloboma	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0000612	HP:0000612	Iris coloboma	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0000612	HP:0000612	Iris coloboma	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000612	HP:0000612	Iris coloboma	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0000612	HP:0000612	Iris coloboma	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0000612	HP:0000612	Iris coloboma	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0000612	HP:0000612	Iris coloboma	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	45
HP:0000612	HP:0000612	Iris coloboma	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0000612	HP:0000612	Iris coloboma	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0000612	HP:0000612	Iris coloboma	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	85
HP:0000612	HP:0000612	Iris coloboma	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0000612	HP:0000612	Iris coloboma	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome		118
HP:0000612	HP:0000612	Iris coloboma	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	118
HP:0000612	HP:0000612	Iris coloboma	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	4
HP:0000612	HP:0000612	Iris coloboma	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent	7
HP:0000612	HP:0000612	Iris coloboma	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional	103
HP:0000612	HP:0000612	Iris coloboma	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	.	35
HP:0000612	HP:0000612	Iris coloboma	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0000612	HP:0000612	Iris coloboma	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent
HP:0000612	HP:0000612	Iris coloboma	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	38
HP:0000612	HP:0000612	Iris coloboma	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	31
HP:0000612	HP:0000612	Iris coloboma	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	180
HP:0000612	HP:0000612	Iris coloboma	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	33
HP:0000612	HP:0000612	Iris coloboma	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	18
HP:0000612	HP:0000612	Iris coloboma	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	213
HP:0000612	HP:0000612	Iris coloboma	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional	221
HP:0000612	HP:0000612	Iris coloboma	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000612	HP:0000612	Iris coloboma	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0000612	HP:0000612	Iris coloboma	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0000612	HP:0000612	Iris coloboma	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome	.	665
HP:0000612	HP:0000612	Iris coloboma	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	665
HP:0000612	HP:0000612	Iris coloboma	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7		665
HP:0000612	HP:0000612	Iris coloboma	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	665
HP:0000612	HP:0000612	Iris coloboma	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome	.	40
HP:0000612	HP:0000612	Iris coloboma	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	40
HP:0000612	HP:0000612	Iris coloboma	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0000612	HP:0000612	Iris coloboma	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0000612	HP:0000612	Iris coloboma	0	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	.	8
HP:0000612	HP:0000612	Iris coloboma	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8
HP:0000612	HP:0000612	Iris coloboma	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000612	HP:0000612	Iris coloboma	0	ROR1 CL E G H	4919	10256	OMIM:617654	Deafness, autosomal recessive 108		1
HP:0000612	HP:0000612	Iris coloboma	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	167
HP:0000612	HP:0000612	Iris coloboma	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	167
HP:0000612	HP:0000612	Iris coloboma	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0000612	HP:0000612	Iris coloboma	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000612	HP:0000612	Iris coloboma	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0000612	HP:0000612	Iris coloboma	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0000612	HP:0000612	Iris coloboma	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000612	HP:0000612	Iris coloboma	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000612	HP:0000612	Iris coloboma	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040281 - Very frequent	16
HP:0000612	HP:0000612	Iris coloboma	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	67
HP:0000612	HP:0000612	Iris coloboma	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0000612	HP:0000612	Iris coloboma	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome		9
HP:0000612	HP:0000612	Iris coloboma	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000612	HP:0000612	Iris coloboma	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000612	HP:0000612	Iris coloboma	0	SIX6 CL E G H	4990	10892	OMIM:212550	Optic disc anomalies with retinal and/or macular dystrophy	HP:0040283 - Occasional	20
HP:0000612	HP:0000612	Iris coloboma	0	SMCHD1 CL E G H	23347	29090	ORPHA:2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	HP:0040282 - Frequent	174
HP:0000612	HP:0000612	Iris coloboma	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0000612	HP:0000612	Iris coloboma	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0000612	HP:0000612	Iris coloboma	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0000612	HP:0000612	Iris coloboma	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000612	HP:0000612	Iris coloboma	0	SRD5A3 CL E G H	79644	25812	OMIM:612713	Kahrizi syndrome	.	80
HP:0000612	HP:0000612	Iris coloboma	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome	.	124
HP:0000612	HP:0000612	Iris coloboma	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional	124
HP:0000612	HP:0000612	Iris coloboma	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	124
HP:0000612	HP:0000612	Iris coloboma	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	124
HP:0000612	HP:0000612	Iris coloboma	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent	28
HP:0000612	HP:0000612	Iris coloboma	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040282 - Frequent	140
HP:0000612	HP:0000612	Iris coloboma	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	45
HP:0000612	HP:0000612	Iris coloboma	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	76
HP:0000612	HP:0000612	Iris coloboma	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	1
HP:0000612	HP:0000612	Iris coloboma	0	TENM3 CL E G H	55714	29944	OMIM:615145	Microphthalmia, isolated, with coloboma 9	.	12
HP:0000612	HP:0000612	Iris coloboma	0	TFAP2A CL E G H	7020	11742	ORPHA:1297	Branchio-oculo-facial syndrome	HP:0040282 - Frequent	12
HP:0000612	HP:0000612	Iris coloboma	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000612	HP:0000612	Iris coloboma	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	32
HP:0000612	HP:0000612	Iris coloboma	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	39
HP:0000612	HP:0000612	Iris coloboma	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	45
HP:0000612	HP:0000612	Iris coloboma	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	33
HP:0000612	HP:0000612	Iris coloboma	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	82
HP:0000612	HP:0000612	Iris coloboma	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	82
HP:0000612	HP:0000612	Iris coloboma	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional	82
HP:0000612	HP:0000612	Iris coloboma	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional	166
HP:0000612	HP:0000612	Iris coloboma	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	166
HP:0000612	HP:0000612	Iris coloboma	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0000612	HP:0000612	Iris coloboma	0	TRAPPC11 CL E G H	60684	25751	ORPHA:869	Triple A syndrome	HP:0040283 - Occasional	27
HP:0000612	HP:0000612	Iris coloboma	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0000612	HP:0000612	Iris coloboma	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional	546
HP:0000612	HP:0000612	Iris coloboma	0	VSX2 CL E G H	338917	1975	OMIM:610092	MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 3; MCOPCB3		66
HP:0000612	HP:0000612	Iris coloboma	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000612	HP:0000612	Iris coloboma	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent	12
HP:0000612	HP:0000612	Iris coloboma	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040282 - Frequent	2
HP:0000612	HP:0000612	Iris coloboma	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000612	HP:0000612	Iris coloboma	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0000612	HP:0000612	Iris coloboma	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000612	HP:0000612	Iris coloboma	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional	34
HP:0000612	HP:0000612	Iris coloboma	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	49

Genes (166) :AAAS ACTB ACTG1 ADNP AHI1 ALG2 ALG3 ALX3 ANK1 ARL13B ARL3 ARMC9 ATOH7 ATP6V1A B3GALNT2 B3GLCT B4GAT1 B9D1 B9D2 BCOR BMP4 C12ORF57 CBY1 CC2D2A CCDC22 CDON CENPF CEP104 CEP120 CEP290 CEP41 CHD7 CHN1 COL4A1 COX7B CPLANE1 CPLX1 CRPPA CRYAA CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CTBP1 DACT1 DAG1 DHCR7 DISP1 DLL1 DYRK1A ELP4 ERF FGF3 FGF8 FGFR1 FGFR2 FGFRL1 FKRP FKTN FLI1 FLNA FOXH1 GAS1 GDF3 GJA8 GLI2 GMPPA GNAQ GZF1 HCCS HMX1 HRAS HYLS1 IGBP1 INPP5E KATNIP KCTD1 KIAA0586 KIFBP KRAS LARGE1 LETM1 LRP2 MAF MAFB MBTPS2 MED12L MIR204 MKS1 MMP14 MMP2 MPDZ NAA10 NDUFB11 NELFA NODAL NOTCH2 NOTCH3 NPHP1 NRAS NSD2 PIBF1 PIGG PNPLA6 POGZ POLR1B POLR1C POLR1D POMGNT1 POMGNT2 POMK POMT1 POMT2 PORCN PRR12 PTCH1 PTCH2 PUF60 RB1 RBP4 RERE ROR1 RPGRIP1L RSPO2 RXYLT1 SALL1 SALL2 SALL4 SEMA3E SHH SIN3A SIX3 SIX6 SMCHD1 SMO SOX2 SPTBN1 SRD5A3 SUFU TBX22 TCOF1 TCTN1 TCTN2 TDGF1 TENM3 TFAP2A TGIF1 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TRAPPC11 TRIM37 VPS13B VSX2 WASHC5 WNT3 YAP1 ZEB2 ZIC2 ZNF423

Diseases (109) :ORPHA:869 ORPHA:2995 OMIM:243310 ORPHA:404448 ORPHA:475 ORPHA:220493 ORPHA:79326 OMIM:607906 OMIM:601110 ORPHA:391474 ORPHA:251066 OMIM:221900 OMIM:618012 ORPHA:899 ORPHA:709 OMIM:261540 ORPHA:568 OMIM:309800 OMIM:300166 ORPHA:2712 ORPHA:139471 OMIM:218340 ORPHA:1777 ORPHA:1454 ORPHA:2318 ORPHA:7 ORPHA:280200 OMIM:243605 OMIM:214800 ORPHA:138 ORPHA:233 OMIM:309801 ORPHA:280 OMIM:194190 OMIM:604219 ORPHA:1377 ORPHA:857 ORPHA:818 ORPHA:268261 OMIM:617141 ORPHA:207 ORPHA:2791 ORPHA:2396 OMIM:147950 ORPHA:2308 OMIM:300244 ORPHA:88630 OMIM:613702 ORPHA:3205 OMIM:617662 OMIM:612109 ORPHA:2612 ORPHA:52055 OMIM:300472 OMIM:181270 ORPHA:66629 ORPHA:2143 OMIM:222448 OMIM:610202 ORPHA:85284 OMIM:618872 OMIM:616722 OMIM:249000 ORPHA:371428 OMIM:615219 ORPHA:955 ORPHA:2789 ORPHA:220497 ORPHA:2377 OMIM:616364 ORPHA:468678 ORPHA:861 OMIM:305600 ORPHA:2092 OMIM:619539 OMIM:109400 ORPHA:377 OMIM:610828 ORPHA:508498 ORPHA:1587 OMIM:616428 OMIM:615147 ORPHA:494344 OMIM:617654 ORPHA:3301 OMIM:216820 ORPHA:959 OMIM:607323 OMIM:611638 OMIM:613406 OMIM:157170 OMIM:212550 ORPHA:2250 ORPHA:1553 OMIM:601707 ORPHA:77298 OMIM:619475 OMIM:612713 ORPHA:921 OMIM:615145 ORPHA:1297 OMIM:113620 OMIM:253250 ORPHA:193 OMIM:610092 ORPHA:1473 OMIM:235730 ORPHA:261552 ORPHA:261537

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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