Human Phenotype Ontology

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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:
Abnormality of the orbital region (HP:0000315)

Parent Node:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Coloboma (HP:0000589)

..Starting node
..Retinal coloboma (HP:0000480)

Term ID:

480

Name:

Retinal coloboma

Synonym:

Hole in the back of the eye

Definition:

A notch or cleft of the retina.

Comments:

Reference:

HP:0000480

Genes and Diseases:

Child Nodes:

........

Macular coloboma (HP:0001116)

........

Bilateral retinal coloboma (HP:0007808)

........

Inferior retinal coloboma (HP:0031614)

Sister Nodes:

Chorioretinal coloboma (HP:0000567)

Ciliary body coloboma (HP:0020006)

Iris coloboma (HP:0000612)

Lens coloboma (HP:0100719)

Optic disc coloboma (HP:0000588)

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:0000480	HP:0000480	Retinal coloboma	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	175
HP:0000480	HP:0000480	Retinal coloboma	0	ALDH1A3 CL E G H	220	409	OMIM:615113	Microphthalmia, isolated 8		10
HP:0000480	HP:0000480	Retinal coloboma	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0000480	HP:0000480	Retinal coloboma	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0000480	HP:0000480	Retinal coloboma	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0000480	HP:0000480	Retinal coloboma	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0000480	HP:0000480	Retinal coloboma	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	7
HP:0000480	HP:0000480	Retinal coloboma	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0000480	HP:0000480	Retinal coloboma	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	90
HP:0000480	HP:0000480	Retinal coloboma	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0000480	HP:0000480	Retinal coloboma	0	CLDN19 CL E G H	149461	2040	ORPHA:2196	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement		42
HP:0000480	HP:0000480	Retinal coloboma	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement		42
HP:0000480	HP:0000480	Retinal coloboma	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0000480	HP:0000480	Retinal coloboma	0	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84		1
HP:0000480	HP:0000480	Retinal coloboma	0	FGF3 CL E G H	2248	3681	ORPHA:2791	Otodental syndrome	HP:0040283 - Occasional	18
HP:0000480	HP:0000480	Retinal coloboma	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent	2
HP:0000480	HP:0000480	Retinal coloboma	0	HMX1 CL E G H	3166	5017	OMIM:612109	Oculoauricular syndrome		2
HP:0000480	HP:0000480	Retinal coloboma	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	111
HP:0000480	HP:0000480	Retinal coloboma	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0000480	HP:0000480	Retinal coloboma	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0000480	HP:0000480	Retinal coloboma	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		70
HP:0000480	HP:0000480	Retinal coloboma	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		62
HP:0000480	HP:0000480	Retinal coloboma	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0000480	HP:0000480	Retinal coloboma	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional	127
HP:0000480	HP:0000480	Retinal coloboma	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC		101
HP:0000480	HP:0000480	Retinal coloboma	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9		15
HP:0000480	HP:0000480	Retinal coloboma	0	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0000480	HP:0000480	Retinal coloboma	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0000480	HP:0000480	Retinal coloboma	0	PAX2 CL E G H	5076	8616	ORPHA:1475	Renal coloboma syndrome	HP:0040283 - Occasional	39
HP:0000480	HP:0000480	Retinal coloboma	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040281 - Very frequent	36
HP:0000480	HP:0000480	Retinal coloboma	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.	36
HP:0000480	HP:0000480	Retinal coloboma	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome		49
HP:0000480	HP:0000480	Retinal coloboma	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0000480	HP:0000480	Retinal 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:0000480	HP:0000480	Retinal coloboma	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	85
HP:0000480	HP:0000480	Retinal coloboma	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	90
HP:0000480	HP:0000480	Retinal coloboma	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	135
HP:0000480	HP:0000480	Retinal coloboma	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		129
HP:0000480	HP:0000480	Retinal coloboma	0	SALL2 CL E G H	6297	10526	OMIM:216820	COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE		1
HP:0000480	HP:0000480	Retinal coloboma	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.	86
HP:0000480	HP:0000480	Retinal coloboma	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy		48
HP:0000480	HP:0000480	Retinal coloboma	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	15
HP:0000480	HP:0000480	Retinal coloboma	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0000480	HP:0000480	Retinal 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:0000480	HP:0000480	Retinal coloboma	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0000480	HP:0031614	Inferior retinal coloboma	1	CL E G H
HP:0000480	HP:0001116	Macular coloboma	1	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:0000480	HP:0001116	Macular coloboma	1	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0000480	HP:0001116	Macular coloboma	1	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0000480	HP:0001116	Macular coloboma	1	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	HP:0040284 - Very rare	1
HP:0000480	HP:0001116	Macular coloboma	1	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	70
HP:0000480	HP:0001116	Macular coloboma	1	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	62
HP:0000480	HP:0001116	Macular coloboma	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent	101
HP:0000480	HP:0001116	Macular coloboma	1	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.	15
HP:0000480	HP:0001116	Macular coloboma	1	NMNAT1 CL E G H	64802	17877	OMIM:619260	SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA		15
HP:0000480	HP:0001116	Macular coloboma	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040282 - Frequent	49
HP:0000480	HP:0001116	Macular coloboma	1	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	129
HP:0000480	HP:0001116	Macular coloboma	1	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	48

Genes (38) :AHI1 ALDH1A3 B3GLCT C2CD3 CASK CEP120 CEP290 CEP41 CHD7 CLDN19 CRB1 DHX38 FGF3 FIBP HMX1 INPP5E INTS1 KIAA0586 LCA5 LRAT MAN2C1 MKS1 MMACHC NMNAT1 PAX2 PIGL PRPS1 PUF60 RAB18 RAB3GAP1 RAB3GAP2 RPE65 SALL2 SALL4 SPATA7 TBC1D20 TFAP2A ZEB2

Diseases (35) :ORPHA:220493 OMIM:615113 OMIM:261540 ORPHA:434179 OMIM:615948 OMIM:300749 OMIM:610188 OMIM:214800 ORPHA:2196 OMIM:248190 OMIM:613835 OMIM:618220 ORPHA:2791 ORPHA:500095 OMIM:612109 OMIM:618571 OMIM:616546 ORPHA:364055 OMIM:619775 ORPHA:79282 OMIM:608553 OMIM:619260 OMIM:120330 ORPHA:1475 ORPHA:3474 OMIM:280000 ORPHA:423479 ORPHA:508488 ORPHA:508498 ORPHA:2510 OMIM:216820 OMIM:607323 OMIM:113620 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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