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 bone structure (HP:0003330)

Parent Node:
Abnormal cortical bone morphology (HP:0003103)

..Starting node
..Abnormality of foot cortical bone (HP:0025332)

Term ID:

25332

Name:

Abnormality of foot cortical bone

Synonym:

Abnormality of the cortex of foot bones

Definition:

An anomaly of the outer shell (cortex) of a foot bone.

Comments:

Reference:

HP:0025332

Genes and Diseases:

Child Nodes:

........

Cortical thinning of foot bones (HP:0025333)

Sister Nodes:

Abnormal hand cortical bone morphology (HP:0005926)

Abnormal morphology of the cortex of the humerus (HP:0010629)

Cortical irregularity (HP:0005731)

Cortical sclerosis (HP:0005652)

Pseudo-fractures (HP:0100036)

Thickened cortex of bones (HP:0100039)

Thin bony cortex (HP:0002753)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025332	HP:0025332	Abnormality of foot cortical bone	0	CL E G H
HP:0025332	HP:0025333	Cortical thinning of foot bones	1	CL E G H

Genes (0) :

Diseases (0) :

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