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:
Abnormal chorioretinal morphology (HP:0000532)

Parent Node:
Coloboma (HP:0000589)

..Starting node
..Chorioretinal coloboma (HP:0000567)

Term ID:

567

Name:

Chorioretinal coloboma

Synonym:

Birth defect that causes a hole in the innermost layer at the back of the eye; Choroid coloboma; Choroidal coloboma; Choroidoretinal coloboma; Coloboma of choroid

Definition:

Absence of a region of the retina, retinal pigment epithelium, and choroid.

Comments:

Reference:

HP:0000567

Genes and Diseases:

Child Nodes:

........

Inferior chorioretinal coloboma (HP:0031613)

Sister Nodes:

Ciliary body coloboma (HP:0020006)

Iris coloboma (HP:0000612)

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:0000567	HP:0000567	Chorioretinal coloboma	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0000567	HP:0000567	Chorioretinal coloboma	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	54
HP:0000567	HP:0000567	Chorioretinal coloboma	0	BCOR CL E G H	54880	20893	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	101
HP:0000567	HP:0000567	Chorioretinal coloboma	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0000567	HP:0000567	Chorioretinal coloboma	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040282 - Frequent	38
HP:0000567	HP:0000567	Chorioretinal coloboma	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0000567	HP:0000567	Chorioretinal coloboma	0	C12ORF57 CL E G H	113246	29521	ORPHA:1777	Temtamy syndrome	HP:0040281 - Very frequent	13
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CASK CL E G H	8573	1497	ORPHA:163937	X-linked intellectual disability, Najm type	HP:0040283 - Occasional	118
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	247
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	247
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional	33
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	342
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CHN1 CL E G H	1123	1943	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	35
HP:0000567	HP:0000567	Chorioretinal coloboma	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	HP:0040281 - Very frequent	42
HP:0000567	HP:0000567	Chorioretinal coloboma	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0000567	HP:0000567	Chorioretinal coloboma	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant		7
HP:0000567	HP:0000567	Chorioretinal coloboma	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	HP:0040284 - Very rare
HP:0000567	HP:0000567	Chorioretinal coloboma	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040282 - Frequent
HP:0000567	HP:0000567	Chorioretinal coloboma	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000567	HP:0000567	Chorioretinal coloboma	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0000567	HP:0000567	Chorioretinal coloboma	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	111
HP:0000567	HP:0000567	Chorioretinal coloboma	0	MAFB CL E G H	9935	6408	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	63
HP:0000567	HP:0000567	Chorioretinal coloboma	0	NAA10 CL E G H	8260	18704	ORPHA:568	Microphthalmia, Lenz type	HP:0040282 - Frequent	23
HP:0000567	HP:0000567	Chorioretinal coloboma	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0000567	HP:0000567	Chorioretinal coloboma	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0000567	HP:0000567	Chorioretinal coloboma	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040282 - Frequent	194
HP:0000567	HP:0000567	Chorioretinal coloboma	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0000567	HP:0000567	Chorioretinal coloboma	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040282 - Frequent	20
HP:0000567	HP:0000567	Chorioretinal coloboma	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional	948
HP:0000567	HP:0000567	Chorioretinal coloboma	0	RBP4 CL E G H	5950	9922	OMIM:616428	Microphthalmia, isolated, with coloboma 10	.	8
HP:0000567	HP:0000567	Chorioretinal coloboma	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0000567	HP:0000567	Chorioretinal coloboma	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	167
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.	124
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional	86
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SALL4 CL E G H	57167	15924	ORPHA:233	Duane retraction syndrome	HP:0040283 - Occasional	86
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SHH CL E G H	6469	10848	OMIM:611638	Microphthalmia, isolated, with coloboma 5		67
HP:0000567	HP:0000567	Chorioretinal coloboma	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0000567	HP:0000567	Chorioretinal 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:0000567	HP:0000567	Chorioretinal coloboma	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040282 - Frequent	28
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	39
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	45
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	33
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	82
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0000567	HP:0000567	Chorioretinal coloboma	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040282 - Frequent	166
HP:0000567	HP:0000567	Chorioretinal coloboma	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0000567	HP:0000567	Chorioretinal coloboma	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0000567	HP:0000567	Chorioretinal coloboma	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional	83
HP:0000567	HP:0000567	Chorioretinal coloboma	0	YAP1 CL E G H	10413	16262	ORPHA:1473	Uveal coloboma-cleft lip and palate-intellectual disability	HP:0040281 - Very frequent	2
HP:0000567	HP:0000567	Chorioretinal coloboma	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0000567	HP:0000567	Chorioretinal coloboma	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040282 - Frequent	49
HP:0000567	HP:0031613	Inferior chorioretinal coloboma	1	CL E G H

Genes (45) :ACTB AKT1 BCOR BMP4 C12ORF57 CASK CC2D2A CCDC22 CEP290 CHD7 CHN1 CLDN19 DACT1 GDF3 GZF1 HHAT HMX1 INPP5E MAFB NAA10 PAX6 PORCN PTEN RBP4 RERE RPGRIP1L SALL1 SALL4 SEMA3E SHH SIX3 SIX6 SPTBN1 TBX22 TMEM138 TMEM216 TMEM231 TMEM237 TMEM67 VPS35L WAC WASHC5 YAP1 ZEB2 ZNF423

Diseases (40) :OMIM:243310 ORPHA:744 ORPHA:568 OMIM:309800 ORPHA:139471 OMIM:218340 ORPHA:1777 ORPHA:163937 OMIM:619111 ORPHA:1454 ORPHA:2318 ORPHA:7 ORPHA:138 ORPHA:233 ORPHA:2196 ORPHA:857 OMIM:613702 OMIM:617662 ORPHA:1422 OMIM:612109 OMIM:213300 OMIM:120200 ORPHA:137902 OMIM:305600 ORPHA:2092 OMIM:616428 ORPHA:494344 OMIM:107480 ORPHA:959 OMIM:611638 OMIM:157170 OMIM:212550 OMIM:619475 ORPHA:921 OMIM:608091 OMIM:610688 OMIM:619135 ORPHA:284169 ORPHA:1473 OMIM:235730

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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