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 morphology (HP:0002973)

Grandparent Node:
Abnormal upper limb bone morphology (HP:0040070)

Parent Node:
Abnormal forearm bone morphology (HP:0040072)

..Starting node
..Sclerotic forearm bones (HP:0003967)

Term ID:

3967

Name:

Sclerotic forearm bones

Synonym:

Increased bone density of forearm bones

Definition:

Comments:

Reference:

HP:0003967

Genes and Diseases:

Child Nodes:

........

Osteosclerosis of the ulna (HP:0003991)

........

Osteosclerosis of the radius (HP:0040061)

Sister Nodes:

Abnormal morphology of the radius (HP:0002818)

Aplasia/hypoplasia involving forearm bones (HP:0006503)

Cortical thickening of the forearm bones (HP:0003957)

Cross-fusion of the forearm bones (HP:0003958)

Exostoses of the forearm bones (HP:0003960)

Lytic defects of the forearm bones (HP:0003963)

Obsolete Abnormal forearm bone morphology (HP:0040073)

obsolete Abnormality of the ulna (HP:0002997)

Osteoporotic forearm bones (HP:0003964)

Pseudarthrosis of the forearm bones (HP:0003965)

Sclerotic foci in forearm bones (HP:0003966)

Undermodelled forearm bones (HP:0003970)

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:0003967	HP:0003967	Sclerotic forearm bones	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	72
HP:0003967	HP:0040061	Osteosclerosis of the radius	1	CL E G H
HP:0003967	HP:0003991	Osteosclerosis of the ulna	1	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.