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:
Inflammatory abnormality of the skin (HP:0011123)

Parent Node:
Neutrophilic infiltration of the skin (HP:0031234)

..Starting node
..Predominantly dermal neutrophilic infiltrate (HP:0031236)

Term ID:

31236

Name:

Predominantly dermal neutrophilic infiltrate

Synonym:

Definition:

Collection of neutrophils in the dermis.

Comments:

Reference:

HP:0031236

Genes and Diseases:

Child Nodes:

Sister Nodes:

Predominantly epidermal neutrophilic infiltrate (HP:0031235)

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:0031236	HP:0031236	Predominantly dermal neutrophilic infiltrate	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040283 - Occasional	35
HP:0031236	HP:0031236	Predominantly dermal neutrophilic infiltrate	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040281 - Very frequent	281

Genes (2) :LDHA MEFV

Diseases (2) :ORPHA:284426 ORPHA:3243

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