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 choroid morphology (HP:0000610)

Grandparent Node:
Abnormal retinal morphology (HP:0000479)

Parent Node:
Abnormal chorioretinal morphology (HP:0000532)

..Starting node
..Chorioretinal dysplasia (HP:0007731)

Term ID:

7731

Name:

Chorioretinal dysplasia

Synonym:

Definition:

Abnormal development of the choroid and retina.

Comments:

Reference:

HP:0007731

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of chorioretinal pigmentation (HP:0007661)

Central serous chorioretinopathy (HP:0025567)

Chorioretinal coloboma (HP:0000567)

Chorioretinal degeneration (HP:0200065)

Chorioretinal dystrophy (HP:0001135)

Chorioretinal lacunae (HP:0007858)

Chorioretinitis (HP:0012424)

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:0007731	HP:0007731	Chorioretinal dysplasia	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	6
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	11
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	KIF11 CL E G H	3832	6388	OMIM:152950	Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	.	46
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional	46
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional	3
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040283 - Occasional	88
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	TUBGCP4 CL E G H	27229	16691	OMIM:616335	Microcephaly and chorioretinopathy, autosomal recessive, 3		14
HP:0007731	HP:0007731	Chorioretinal dysplasia	0	TUBGCP6 CL E G H	85378	18127	OMIM:251270	Microcephaly and chorioretinopathy, autosomal recessive, 1		61

Genes (21) :B3GALNT2 B4GAT1 COL4A1 COX7B CRPPA DAG1 FKRP FKTN HCCS KIF11 LARGE1 NDUFB11 OCRL POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1 TUBGCP4 TUBGCP6

Diseases (7) :ORPHA:899 ORPHA:2556 OMIM:152950 ORPHA:2526 ORPHA:534 OMIM:616335 OMIM:251270

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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