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:
Localized skin lesion (HP:0011355)

Parent Node:
Abnormal skin morphology of the palm (HP:0040211)

Parent Node:
Skin pit (HP:0100276)

..Starting node
..Palmar pits (HP:0010610)

Term ID:

10610

Name:

Palmar pits

Synonym:

Definition:

Comments:

Reference:

HP:0010610

Genes and Diseases:

Child Nodes:

Sister Nodes:

Digital pitting scar (HP:0031293)

Lip pit (HP:0100267)

Periauricular skin pits (HP:0100277)

Plantar pits (HP:0010612)

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:0010610	HP:0010610	Palmar pits	0	ATP2A2 CL E G H	488	812	OMIM:124200	Darier-White disease	.	86
HP:0010610	HP:0010610	Palmar pits	0	CIB1 CL E G H	10519	16920	OMIM:618267	Epidermodysplasia verruciformis, susceptibility to, 3	HP:0040284 - Very rare
HP:0010610	HP:0010610	Palmar pits	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	173
HP:0010610	HP:0010610	Palmar pits	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0010610	HP:0010610	Palmar pits	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	6
HP:0010610	HP:0010610	Palmar pits	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040284 - Very rare	2
HP:0010610	HP:0010610	Palmar pits	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome		665
HP:0010610	HP:0010610	Palmar pits	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	665
HP:0010610	HP:0010610	Palmar pits	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent	665
HP:0010610	HP:0010610	Palmar pits	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome		40
HP:0010610	HP:0010610	Palmar pits	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	40
HP:0010610	HP:0010610	Palmar pits	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome		124
HP:0010610	HP:0010610	Palmar pits	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040281 - Very frequent	124

Genes (9) :ATP2A2 CIB1 KRT5 POFUT1 POGLUT1 PSENEN PTCH1 PTCH2 SUFU

Diseases (6) :OMIM:124200 OMIM:618267 ORPHA:79145 OMIM:109400 ORPHA:377 ORPHA:77301

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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