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:
Skin nodule (HP:0200036)

Parent Node:
Subcutaneous nodule (HP:0001482)

..Starting node
..Periarticular subcutaneous nodules (HP:0007470)

Term ID:

7470

Name:

Periarticular subcutaneous nodules

Synonym:

Definition:

Subcutaneous nodules that are located in the vicinity of joints.

Comments:

Reference:

HP:0007470

Genes and Diseases:

Child Nodes:

Sister Nodes:

Subcutaneous spheroids (HP:0025014)

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:0007470	HP:0007470	Periarticular subcutaneous nodules	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040281 - Very frequent	78
HP:0007470	HP:0007470	Periarticular subcutaneous nodules	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.	78
HP:0007470	HP:0007470	Periarticular subcutaneous nodules	0	IARS2 CL E G H	55699	29685	ORPHA:436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	HP:0040281 - Very frequent	25

Genes (2) :ASAH1 IARS2

Diseases (3) :ORPHA:333 OMIM:228000 ORPHA:436174

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