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	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	BRAF CL E G H	673	54595				ORPHA	1	948	1097	164757
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	CTNNB1 CL E G H	1499	54595				ORPHA	1	468	2514	116806
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	DNM1L CL E G H	10059	610708	Optic atrophy 5	610708	C1853139	OMIM	1	445	2973	603850
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MFN2 CL E G H	9927	601152	Hereditary motor and sensory neuropathy with optic atrophy	601152	C0393807	OMIM	1	1063	16877	608507
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ATP6 CL E G H	4508	104				ORPHA	1		7414	516060
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-CO1 CL E G H	4512	104				ORPHA	1		7419	516030
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-CO3 CL E G H	4514	104				ORPHA	1		7422	516050
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-CYB CL E G H	4519	104				ORPHA	1		7427	516020
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ND1 CL E G H	4535	104				ORPHA	1		7455	516000
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ND2 CL E G H	4536	104				ORPHA	1		7456	516001
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ND4 CL E G H	4538	104				ORPHA	1		7459	516003
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ND4L CL E G H	4539	104				ORPHA	1		7460	516004
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ND5 CL E G H	4540	104				ORPHA	1		7461	516005
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	MT-ND6 CL E G H	4541	104				ORPHA	1		7462	516006
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	NDUFS2 CL E G H	4720	104				ORPHA	1	178	7708	602985
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	RAX2 CL E G H	84839	610381	Cone-rod dystrophy 11	610381	C1835865	OMIM	1	223	18286	610362
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	RP1L1 CL E G H	94137	613587	Occult macular dystrophy	613587	C3150833	OMIM	1	848	15946	608581
HP:0007924	HP:0007924	Slow decrease in visual acuity	0	ST3GAL5 CL E G H	8869	370938				ORPHA	1	309	10872	604402
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (28) :ATP6 BRAF COX1 COX3 CTNNB1 CYTB DNM1L MFN2 MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 ND1 ND2 ND4 ND4L ND5 ND6 NDUFS2 RAX2 RP1L1 ST3GAL5

Diseases (7) :104 54595 610708 601152 610381 613587 370938

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.

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