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:
Visual loss (HP:0000572)

Parent Node:
Progressive visual loss (HP:0000529)

..Starting node
..Slow decrease in visual acuity (HP:0007924)

Term ID:

7924

Name:

Slow decrease in visual acuity

Synonym:

Decreased visual acuity, slowly progressive; Slow decrease in sharpness of vision; Subacute deterioration of visual acuity

Definition:

Comments:

Reference:

HP:0007924

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0007924	HP:0007924	Slow decrease in visual acuity	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional	54
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ATP6 CL E G H	4508	7414	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional	184
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	276
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	COX1 CL E G H	4512	7419	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	COX3 CL E G H	4514	7422	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040282 - Frequent	88
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	CYTB CL E G H	4519	7427	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	DNAJC30 CL E G H	84277	16410	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	DNM1L CL E G H	10059	2973	OMIM:610708	Optic atrophy 5	.	94
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	24
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	124
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ND1 CL E G H	4535	7455	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ND2 CL E G H	4536	7456	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ND4 CL E G H	4538	7459	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ND4L CL E G H	4539	7460	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ND5 CL E G H	4540	7461	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ND6 CL E G H	4541	7462	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	NDUFS2 CL E G H	4720	7708	ORPHA:104	Leber hereditary optic neuropathy	HP:0040281 - Very frequent	65
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional	220
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional	9
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional	162
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	159
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	RAX2 CL E G H	84839	18286	OMIM:610381	Cone-Rod dystrophy 11	.	52
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	RP1L1 CL E G H	94137	15946	OMIM:613587	OCCULT MACULAR DYSTROPHY; OCMD		284
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional	87
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional	47
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional	22
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional	124
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional	238
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	TGFBI CL E G H	7045	11771	ORPHA:98964	Lattice corneal dystrophy type I	HP:0040283 - Occasional	58
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	TGFBI CL E G H	7045	11771	ORPHA:98960	Thiel-Behnke corneal dystrophy	HP:0040281 - Very frequent	58
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional

Genes (34) :AKT1 ATP6 BAP1 BRAF COX1 COX3 CTNNB1 CYTB DNAJC30 DNM1L FA2H GUCA1A GUCY2D MFN2 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 NF2 PDGFB PIK3CA PRPH2 RAX2 RP1L1 SMARCB1 SMARCE1 SMO SUFU TERT TGFBI TRAF7

Diseases (11) :ORPHA:2495 ORPHA:104 ORPHA:54595 OMIM:610708 ORPHA:329308 ORPHA:75377 OMIM:601152 OMIM:610381 OMIM:613587 ORPHA:98964 ORPHA:98960

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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