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 diaphysis morphology (HP:0000940)

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

Parent Node:
Diaphyseal sclerosis (HP:0003034)

..Starting node
..Diaphyseal cortical sclerosis (HP:0005045)

Term ID:

5045

Name:

Diaphyseal cortical sclerosis

Synonym:

Definition:

An elevation in bone density of the cortex of one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Comments:

Reference:

HP:0005045

Genes and Diseases:

Child Nodes:

Sister Nodes:

Diaphyseal sclerosis of the upper limbs (HP:0003860)

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:0005045	HP:0005045	Diaphyseal cortical sclerosis	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.	304
HP:0005045	HP:0005045	Diaphyseal cortical sclerosis	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85

Genes (2) :ANO5 MTAP

Diseases (2) :OMIM:166260 OMIM:112250

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