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:
Abnormality of the elbow (HP:0009811)

Parent Node:
Abnormality of the joint spaces of the elbow (HP:0003943)

..Starting node
..Narrow joint spaces of the elbow (HP:0003944)

Term ID:

3944

Name:

Narrow joint spaces of the elbow

Synonym:

Narrow joint spaces of the elbow

Definition:

Comments:

Reference:

HP:0003944

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003944	HP:0003944	Narrow joint spaces of the elbow	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional

Genes (1) :GRB10

Diseases (1) :ORPHA:96182

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