Human Phenotype Ontology

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:
Skin pit (HP:0100276)

..Starting node
..Digital pitting scar (HP:0031293)

Term ID:

31293

Name:

Digital pitting scar

Synonym:

Definition:

Pinhole-sized concave depressions with hyperkeratosis in the skin of a finger or toe.

Comments:

Reference:

HP:0031293

Genes and Diseases:

Child Nodes:

Sister Nodes:

Lip pit (HP:0100267)

Palmar pits (HP:0010610)

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:0031293	HP:0031293	Digital pitting scar	0	KRT5 CL E G H	3852	6442	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	173
HP:0031293	HP:0031293	Digital pitting scar	0	POFUT1 CL E G H	23509	14988	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2
HP:0031293	HP:0031293	Digital pitting scar	0	POGLUT1 CL E G H	56983	22954	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	6
HP:0031293	HP:0031293	Digital pitting scar	0	PSENEN CL E G H	55851	30100	ORPHA:79145	Dowling-Degos disease	HP:0040283 - Occasional	2

Genes (4) :KRT5 POFUT1 POGLUT1 PSENEN

Diseases (1) :ORPHA:79145

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.