Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Thin long bone diaphyses (HP:0006470)

Term ID:

6470

Name:

Thin long bone diaphyses

Synonym:

Thin diaphyses of long bones; Thin shaft of long bone

Definition:

Decreased width of the diaphysis of long bones.

Comments:

Reference:

HP:0006470

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)

Broad long bone diaphyses (HP:0006371)

Increased density of long bone diaphyses (HP:0006440)

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:0006470	HP:0006470	Thin long bone diaphyses	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent	8
HP:0006470	HP:0006470	Thin long bone diaphyses	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138
HP:0006470	HP:0006470	Thin long bone diaphyses	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52

Genes (3) :FAM111A POLR3A TBCE

Diseases (3) :ORPHA:93325 ORPHA:3455 ORPHA:93324

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