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:
Recurrent bacterial infections (HP:0002718)

Grandparent Node:
Recurrent skin infections (HP:0001581)

Parent Node:
Recurrent bacterial skin infections (HP:0005406)

..Starting node
..Pyoderma (HP:0000999)

Term ID:

999

Name:

Pyoderma

Synonym:

Pus-filled lesion

Definition:

Any manifestation of a skin disease associated with the production of pus.

Comments:

Reference:

HP:0000999

Genes and Diseases:

Child Nodes:

Sister Nodes:

Chronic furunculosis (HP:0011132)

Recurrent cutaneous abscess formation (HP:0100838)

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:0000999	HP:0000999	Pyoderma	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.	109
HP:0000999	HP:0000999	Pyoderma	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.	109
HP:0000999	HP:0000999	Pyoderma	0	IL10RA CL E G H	3587	5964	OMIM:613148	INFLAMMATORY BOWEL DISEASE 28, AUTOSOMAL RECESSIVE; IBD28		64
HP:0000999	HP:0000999	Pyoderma	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	116
HP:0000999	HP:0000999	Pyoderma	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	167
HP:0000999	HP:0000999	Pyoderma	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040284 - Very rare	135

Genes (5) :BTK IL10RA LAMA3 LAMB3 LAMC2

Diseases (4) :OMIM:300755 OMIM:307200 OMIM:613148 ORPHA:79404

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