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 chorioretinal morphology (HP:0000532)

Parent Node:
Abnormality of chorioretinal pigmentation (HP:0007661)

..Starting node
..Chorioretinal hypopigmentation (HP:0040030)

Term ID:

40030

Name:

Chorioretinal hypopigmentation

Synonym:

Definition:

Comments:

Reference:

HP:0040030

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chorioretinal hyperpigmentation (HP:0040031)

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:0040030	HP:0040030	Chorioretinal hypopigmentation	0	DCT CL E G H	1638	2709	OMIM:619165	OCULOCUTANEOUS ALBINISM, TYPE VIII; OCA8
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	23
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional	63
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	PAX6 CL E G H	5080	8620	OMIM:106210	Aniridia		194
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional	40
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040284 - Very rare	88
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	1090
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent	2738
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0040030	HP:0040030	Chorioretinal hypopigmentation	0	WT1 CL E G H	7490	12796	OMIM:106210	Aniridia		177

Genes (10) :DCT IFNG MAGEL2 PAX6 SIM1 SLC25A15 TSC1 TSC2 VPS33A WT1

Diseases (7) :OMIM:619165 ORPHA:805 ORPHA:398069 OMIM:106210 ORPHA:398079 ORPHA:415 OMIM:617303

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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