Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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 foot morphology (HP:0001760)

Parent Node:
Pes cavus (HP:0001761)

..Starting node
..Progressive pes cavus (HP:0008075)

Term ID:

8075

Name:

Progressive pes cavus

Synonym:

Definition:

The development of Pes cavus that is progressive with age.

Comments:

Reference:

HP:0008075

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:0008075	HP:0008075	Progressive pes cavus	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447757	Autosomal dominant spastic paraplegia type 9B	HP:0040282 - Frequent	89
HP:0008075	HP:0008075	Progressive pes cavus	0	ATP13A2 CL E G H	23400	30213	ORPHA:513436	Autosomal recessive spastic paraplegia type 78	HP:0040282 - Frequent	100
HP:0008075	HP:0008075	Progressive pes cavus	0	CAV3 CL E G H	859	1529	ORPHA:488650	Distal myopathy, Tateyama type	HP:0040282 - Frequent	148
HP:0008075	HP:0008075	Progressive pes cavus	0	CPT1C CL E G H	126129	18540	ORPHA:444099	Autosomal dominant spastic paraplegia type 73	HP:0040283 - Occasional	1
HP:0008075	HP:0008075	Progressive pes cavus	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.	68
HP:0008075	HP:0008075	Progressive pes cavus	0	KIF5A CL E G H	3798	6323	ORPHA:100991	Autosomal dominant spastic paraplegia type 10	HP:0040283 - Occasional	93
HP:0008075	HP:0008075	Progressive pes cavus	0	KPNA3 CL E G H	3839	6396	ORPHA:171612	Autosomal dominant spastic paraplegia type 37	HP:0040283 - Occasional
HP:0008075	HP:0008075	Progressive pes cavus	0	RTN2 CL E G H	6253	10468	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent	25
HP:0008075	HP:0008075	Progressive pes cavus	0	SLC33A1 CL E G H	9197	95	ORPHA:171863	Autosomal dominant spastic paraplegia type 42	HP:0040283 - Occasional	48
HP:0008075	HP:0008075	Progressive pes cavus	0	UBAP1 CL E G H	51271	12461	ORPHA:100993	Autosomal dominant spastic paraplegia type 12	HP:0040282 - Frequent
HP:0008075	HP:0008075	Progressive pes cavus	0	WASHC5 CL E G H	9897	28984	ORPHA:100989	Autosomal dominant spastic paraplegia type 8	HP:0040282 - Frequent	83

Genes (11) :ALDH18A1 ATP13A2 CAV3 CPT1C FHL1 KIF5A KPNA3 RTN2 SLC33A1 UBAP1 WASHC5

Diseases (10) :ORPHA:447757 ORPHA:513436 ORPHA:488650 ORPHA:444099 OMIM:300280 ORPHA:100991 ORPHA:171612 ORPHA:100993 ORPHA:171863 ORPHA:100989

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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