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 appendicular skeleton morphology (HP:0011844)

Parent Node:
Abnormal long bone morphology (HP:0011314)

..Starting node
..Protuberances at ends of long bones (HP:0003105)

Term ID:

3105

Name:

Protuberances at ends of long bones

Synonym:

Protuberances at ends of long bones

Definition:

The presence of multiple protuberances (bulges, or knobs) at the ends of the long bones.

Comments:

Reference:

HP:0003105

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal diaphysis morphology (HP:0000940)

Abnormal epiphysis morphology (HP:0005930)

Abnormal humerus morphology (HP:0031095)

Abnormal metaphysis morphology (HP:0000944)

Abnormal morphology of ulna (HP:0040071)

Broad long bones (HP:0005622)

Crumpled long bones (HP:0006367)

Fractures of the long bones (HP:0003084)

Increased density of long bones (HP:0006392)

obsolete Abnormal morphology of the radius (HP:0045009)

Overtubulated long bones (HP:0006391)

Periosteal thickening of long tubular bones (HP:0006465)

Phocomelia (HP:0009829)

Pseudoarthrosis (HP:0005864)

Short long bone (HP:0003026)

Slender long bone (HP:0003100)

Thickened cortex of long bones (HP:0000935)

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:0003105	HP:0003105	Protuberances at ends of long bones	0	EXT1 CL E G H	2131	3512	OMIM:133700	Exostoses, multiple, type I	.	96
HP:0003105	HP:0003105	Protuberances at ends of long bones	0	EXT2 CL E G H	2132	3513	OMIM:133701	Exostoses, multiple, type II	.	102

Genes (2) :EXT1 EXT2

Diseases (2) :OMIM:133700 OMIM:133701

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