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 forearm bone morphology (HP:0040072)

Parent Node:
Increased density of long bones (HP:0006392)

Parent Node:
obsolete Abnormality of the ulna (HP:0002997)

Parent Node:
Sclerotic forearm bones (HP:0003967)

..Starting node
..Osteosclerosis of the ulna (HP:0003991)

Term ID:

3991

Name:

Osteosclerosis of the ulna

Synonym:

Sclerotic ulna

Definition:

Osteosclerosis (increased density related to increased bone mass) of the ulna.

Comments:

Reference:

HP:0003991

Genes and Diseases:

Child Nodes:

Sister Nodes:

Osteosclerosis of the radius (HP:0040061)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003991	HP:0003991	Osteosclerosis of the ulna	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	72

Genes (1) :TNFRSF11A

Diseases (1) :OMIM:602080

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