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
..Anomaly of lower limb diaphyses (HP:0012699)

Term ID:

12699

Name:

Anomaly of lower limb diaphyses

Synonym:

Anomaly of shaft of long bone of lower limb

Definition:

A structural abnormality of a diaphysis of the leg.

Comments:

Reference:

HP:0012699

Genes and Diseases:

Child Nodes:

Sister Nodes:

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)

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:0012699	HP:0012699	Anomaly of lower limb diaphyses	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0012699	HP:0012699	Anomaly of lower limb diaphyses	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283

Genes (1) :KANSL1

Diseases (2) :ORPHA:363958 ORPHA:363965

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