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 skeletal system (HP:0000924)

Parent Node:
Abnormal skeletal morphology (HP:0011842)

..Starting node
..Hyperplastic callus formation (HP:0030268)

Term ID:

30268

Name:

Hyperplastic callus formation

Synonym:

Definition:

Increased growth of callus, the bony and cartilaginous material that forms a connecting bridge across a bone fracture during fracture healing.

Comments:

Reference:

HP:0030268

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal appendicular skeleton morphology (HP:0011844)

Abnormal axial skeleton morphology (HP:0009121)

Abnormal bone structure (HP:0003330)

Abnormal cartilage morphology (HP:0002763)

Abnormal growth plate morphology (HP:0025368)

Abnormal hyoid bone morphology (HP:3000052)

Abnormal joint morphology (HP:0001367)

Abnormal mandibular symphysis morphology (HP:3000079)

Abnormal synovial bursa morphology (HP:0025231)

Abnormal tendon morphology (HP:0100261)

Aplasia/hypoplasia involving the skeleton (HP:0009115)

Dysostosis multiplex (HP:0000943)

Hyperostosis (HP:0100774)

Neoplasm of the skeletal system (HP:0010622)

obsolete Abnormality of cartilage morphology (HP:0410007)

Skeletal dysplasia (HP:0002652)

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:0030268	HP:0030268	Hyperplastic callus formation	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.	8
HP:0030268	HP:0030268	Hyperplastic callus formation	0	KRT16 CL E G H	3868	6423	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	27
HP:0030268	HP:0030268	Hyperplastic callus formation	0	KRT17 CL E G H	3872	6427	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	23
HP:0030268	HP:0030268	Hyperplastic callus formation	0	KRT6A CL E G H	3853	6443	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	41
HP:0030268	HP:0030268	Hyperplastic callus formation	0	KRT6B CL E G H	3854	6444	ORPHA:2309	Pachyonychia congenita	HP:0040281 - Very frequent	4

Genes (5) :IFITM5 KRT16 KRT17 KRT6A KRT6B

Diseases (2) :OMIM:610967 ORPHA:2309

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