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 retinal morphology (HP:0000479)

Grandparent Node:
Coloboma (HP:0000589)

Parent Node:
Abnormal macular morphology (HP:0001103)

Parent Node:
Retinal coloboma (HP:0000480)

..Starting node
..Macular coloboma (HP:0001116)

Term ID:

1116

Name:

Macular coloboma

Synonym:

Coloboma of the macula

Definition:

A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects. Macular coloboma is characterized by a sharply defined, rather large defect in the central area of the fundus that is oval or round, and coarsely pigmented.

Comments:

Reference:

HP:0001116

Genes and Diseases:

Child Nodes:

Sister Nodes:

Inferior retinal coloboma (HP:0031614)

obsolete Bilateral retinal coloboma (HP:0007808)

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:0001116	HP:0001116	Macular 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:0001116	HP:0001116	Macular coloboma	0	CLDN19 CL E G H	149461	2040	OMIM:248190	Hypomagnesemia 5, renal, with or without ocular involvement	.	42
HP:0001116	HP:0001116	Macular coloboma	0	CRB1 CL E G H	23418	2343	OMIM:613835	Leber congenital amaurosis 8		156
HP:0001116	HP:0001116	Macular coloboma	0	DHX38 CL E G H	9785	17211	OMIM:618220	Retinitis pigmentosa 84	HP:0040284 - Very rare	1
HP:0001116	HP:0001116	Macular coloboma	0	LCA5 CL E G H	167691	31923	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	70
HP:0001116	HP:0001116	Macular coloboma	0	LRAT CL E G H	9227	6685	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	62
HP:0001116	HP:0001116	Macular coloboma	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040282 - Frequent	101
HP:0001116	HP:0001116	Macular coloboma	0	NMNAT1 CL E G H	64802	17877	OMIM:608553	Leber congenital amaurosis 9	.	15
HP:0001116	HP:0001116	Macular 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:0001116	HP:0001116	Macular coloboma	0	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:0001116	HP:0001116	Macular coloboma	0	RPE65 CL E G H	6121	10294	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	129
HP:0001116	HP:0001116	Macular coloboma	0	SPATA7 CL E G H	55812	20423	ORPHA:364055	Severe early-childhood-onset retinal dystrophy	HP:0040283 - Occasional	48

Genes (10) :CLDN19 CRB1 DHX38 LCA5 LRAT MMACHC NMNAT1 PRPS1 RPE65 SPATA7

Diseases (9) :ORPHA:2196 OMIM:248190 OMIM:613835 OMIM:618220 ORPHA:364055 ORPHA:79282 OMIM:608553 OMIM:619260 ORPHA:423479

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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