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)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

..Starting node
..Diaphyseal thickening (HP:0005019)

Term ID:

5019

Name:

Diaphyseal thickening

Synonym:

Thickening of shaft or central part of long bones

Definition:

Comments:

Reference:

HP:0005019

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of the medullary cavity of the long bones (HP:0100253)

Cortical thickening of long bone diaphyses (HP:0005791)

Diaphyseal dysplasia (HP:0100252)

Diaphyseal sclerosis (HP:0003034)

Metatarsal diaphyseal endosteal sclerosis (HP:0008114)

obsolete Anomaly of the limb diaphyses morphology (HP:0006504)

Short diaphyses (HP:0000941)

Slender long bones with narrow diaphyses (HP:0004993)

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:0005019	HP:0005019	Diaphyseal thickening	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0005019	HP:0005019	Diaphyseal thickening	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0005019	HP:0005019	Diaphyseal thickening	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0005019	HP:0005019	Diaphyseal thickening	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0005019	HP:0005019	Diaphyseal thickening	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional	18
HP:0005019	HP:0005019	Diaphyseal thickening	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0005019	HP:0005019	Diaphyseal thickening	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	124
HP:0005019	HP:0005019	Diaphyseal thickening	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent	125
HP:0005019	HP:0005019	Diaphyseal thickening	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent	125
HP:0005019	HP:0005019	Diaphyseal thickening	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0005019	HP:0005019	Diaphyseal thickening	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0005019	HP:0005019	Diaphyseal thickening	0	SHOX CL E G H	6473	10853	ORPHA:240	Léri-Weill dyschondrosteosis	HP:0040281 - Very frequent	66
HP:0005019	HP:0005019	Diaphyseal thickening	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional	9
HP:0005019	HP:0005019	Diaphyseal thickening	0	SOST CL E G H	50964	13771	ORPHA:1513	Craniodiaphyseal dysplasia	HP:0040281 - Very frequent	26
HP:0005019	HP:0005019	Diaphyseal thickening	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent	26
HP:0005019	HP:0005019	Diaphyseal thickening	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent	26
HP:0005019	HP:0005019	Diaphyseal thickening	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent	16

Genes (13) :GUSB IDS IDUA INPPL1 LBR LRP4 LRP5 PTDSS1 RMRP SHOX SLC35D1 SOST TBXAS1

Diseases (14) :ORPHA:584 ORPHA:217093 ORPHA:217085 OMIM:607014 ORPHA:3144 OMIM:215140 ORPHA:3152 ORPHA:2790 ORPHA:3416 OMIM:151050 ORPHA:175 ORPHA:240 ORPHA:1513 ORPHA:1802

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

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