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:
Abnormal morphology of the radius (HP:0002818)

Parent Node:
Abnormality of the radial head (HP:0003995)

..Starting node
..Hypoplastic radial head (HP:0003997)

Term ID:

3997

Name:

Hypoplastic radial head

Synonym:

Small radial head

Definition:

Comments:

Reference:

HP:0003997

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dislocated radial head (HP:0003083)

Flattened radial head (HP:0003996)

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:0003997	HP:0003997	Hypoplastic radial head	0	LMX1B CL E G H	4010	6654	OMIM:161200	Nail-Patella syndrome	.	165
HP:0003997	HP:0003997	Hypoplastic radial head	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.	494

Genes (2) :LMX1B NIPBL

Diseases (2) :OMIM:161200 OMIM:122470

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