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:
Abnormality of limb bone morphology (HP:0002813)

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

..Starting node
..Broad long bone diaphyses (HP:0006371)

Term ID:

6371

Name:

Broad long bone diaphyses

Synonym:

Broad shaft of long bone; Wide shaft of long bone

Definition:

Increased width of the diaphysis of long bones.

Comments:

Reference:

HP:0006371

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anomaly of lower limb diaphyses (HP:0012699)

Anomaly of the upper limb diaphyses (HP:0009808)

Bowing of the long bones (HP:0006487)

Increased density of long bone diaphyses (HP:0006440)

Thin long bone diaphyses (HP:0006470)

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:0006371	HP:0006371	Broad long bone diaphyses	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.	7
HP:0006371	HP:0006371	Broad long bone diaphyses	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0006371	HP:0006371	Broad long bone diaphyses	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0006371	HP:0006371	Broad long bone diaphyses	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly		95

Genes (4) :BGN GLB1 TFE3 WDR19

Diseases (4) :OMIM:300106 ORPHA:79255 OMIM:301066 OMIM:614376

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