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
..Cortical irregularity (HP:0005731)

Term ID:

5731

Name:

Cortical irregularity

Synonym:

Definition:

An abnormal irregularity of cortical bone.

Comments:

Reference:

HP:0005731

Genes and Diseases:

Child Nodes:

........

Humeral cortical irregularity (HP:0003867)

................... HP:0003927 Cortical irregularity of humeral diaphysis

Sister Nodes:

Abnormal hand cortical bone morphology (HP:0005926)

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

Abnormality of foot cortical bone (HP:0025332)

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	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:0005731	HP:0005731	Cortical irregularity	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.	373
HP:0005731	HP:0005731	Cortical irregularity	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040281 - Very frequent	373
HP:0005731	HP:0005731	Cortical irregularity	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.	134
HP:0005731	HP:0003867	Humeral cortical irregularity	1	CL E G H
HP:0005731	HP:0003927	Cortical irregularity of humeral diaphysis	2	CL E G H

Genes (2) :COL1A1 SH3PXD2B

Diseases (3) :OMIM:114000 ORPHA:1310 OMIM:249420

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