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:
Thickened skin (HP:0001072)

Parent Node:
Epidermal thickening (HP:0011368)

..Starting node
..Porokeratosis (HP:0200044)

Term ID:

200044

Name:

Porokeratosis

Synonym:

Definition:

A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.

Comments:

Reference:

HP:0200044

Genes and Diseases:

Child Nodes:

Sister Nodes:

Acanthosis nigricans (HP:0000956)

Acrokeratosis (HP:0200016)

Generalized keratosis follicularis (HP:0007439)

Hypergranulosis (HP:0025114)

Hyperkeratosis (HP:0000962)

Ichthyosis (HP:0008064)

Orthokeratosis (HP:0040162)

Parakeratosis (HP:0001036)

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:0200044	HP:0200044	Porokeratosis	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare	2
HP:0200044	HP:0200044	Porokeratosis	0	FDPS CL E G H	2224	3631	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040281 - Very frequent	4
HP:0200044	HP:0200044	Porokeratosis	0	FDPS CL E G H	2224	3631	OMIM:616631	Porokeratosis 9, multiple types	.	4
HP:0200044	HP:0200044	Porokeratosis	0	MVD CL E G H	4597	7529	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040281 - Very frequent	2
HP:0200044	HP:0200044	Porokeratosis	0	MVD CL E G H	4597	7529	OMIM:614714	POROKERATOSIS 7, MULTIPLE TYPES; POROK7		2
HP:0200044	HP:0200044	Porokeratosis	0	MVK CL E G H	4598	7530	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040281 - Very frequent	150
HP:0200044	HP:0200044	Porokeratosis	0	MVK CL E G H	4598	7530	OMIM:175900	Porokeratosis 3, multiple types	.	150
HP:0200044	HP:0200044	Porokeratosis	0	MVK CL E G H	4598	7530	ORPHA:735	Porokeratosis of Mibelli	HP:0040281 - Very frequent	150
HP:0200044	HP:0200044	Porokeratosis	0	PMVK CL E G H	10654	9141	OMIM:175800	Porokeratosis 1, multiple types	.	3
HP:0200044	HP:0200044	Porokeratosis	0	PMVK CL E G H	10654	9141	ORPHA:735	Porokeratosis of Mibelli	HP:0040281 - Very frequent	3
HP:0200044	HP:0200044	Porokeratosis	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040284 - Very rare	445
HP:0200044	HP:0200044	Porokeratosis	0	SLC17A9 CL E G H	63910	16192	ORPHA:79152	Disseminated superficial actinic porokeratosis	HP:0040281 - Very frequent	3
HP:0200044	HP:0200044	Porokeratosis	0	SLC17A9 CL E G H	63910	16192	OMIM:616063	Porokeratosis 8, disseminated superficial Actinic type	.	3

Genes (7) :ANAPC1 FDPS MVD MVK PMVK RECQL4 SLC17A9

Diseases (9) :ORPHA:221008 ORPHA:79152 OMIM:616631 OMIM:614714 OMIM:175900 ORPHA:735 OMIM:175800 ORPHA:221016 OMIM:616063

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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