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 long bone morphology (HP:0011314)

Grandparent Node:
Thickened cortex of bones (HP:0100039)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

Parent Node:
Thickened cortex of long bones (HP:0000935)

..Starting node
..Cortical thickening of long bone diaphyses (HP:0005791)

Term ID:

5791

Name:

Cortical thickening of long bone diaphyses

Synonym:

Definition:

Abnormal thickening of the cortex of the diaphyseal region of long bones.

Comments:

Reference:

HP:0005791

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cortically dense long tubular bones (HP:0006415)

Humeral cortical thickening (HP:0003868)

Massively thickened long bone cortices (HP:0005665)

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:0005791	HP:0005791	Cortical thickening of long bone diaphyses	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional	373
HP:0005791	HP:0005791	Cortical thickening of long bone diaphyses	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent	8
HP:0005791	HP:0005791	Cortical thickening of long bone diaphyses	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0005791	HP:0005791	Cortical thickening of long bone diaphyses	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0005791	HP:0005791	Cortical thickening of long bone diaphyses	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13
HP:0005791	HP:0005791	Cortical thickening of long bone diaphyses	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13

Genes (5) :COL1A1 FAM111A MAN2B1 TBCE TGFB1

Diseases (6) :ORPHA:1310 ORPHA:93325 ORPHA:309282 ORPHA:93324 ORPHA:1328 OMIM:131300

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