Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 bone structure (HP:0003330)

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

..Starting node
..Thickened cortex of bones (HP:0100039)

Term ID:

100039

Name:

Thickened cortex of bones

Synonym:

Definition:

An Abnormality of cortical bone leading to an abnormal thickness of the cortex of affected bones.

Comments:

Reference:

HP:0100039

Genes and Diseases:

Child Nodes:

........

Thickened cortex of long bones (HP:0000935)

................... HP:0003868 Humeral cortical thickening
................... HP:0005665 Massively thickened long bone cortices
................... HP:0005791 Cortical thickening of long bone diaphyses
................... HP:0006415 Cortically dense long tubular bones

........

Cortical thickening of hand bones (HP:0004271)

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 irregularity (HP:0005731)

Cortical sclerosis (HP:0005652)

Pseudo-fractures (HP:0100036)

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:0100039	HP:0100039	Thickened cortex of bones	0	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia		304
HP:0100039	HP:0100039	Thickened cortex of bones	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0100039	HP:0100039	Thickened cortex of bones	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0100039	HP:0100039	Thickened cortex of bones	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2		8
HP:0100039	HP:0100039	Thickened cortex of bones	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0100039	HP:0100039	Thickened cortex of bones	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0100039	HP:0100039	Thickened cortex of bones	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal		125
HP:0100039	HP:0100039	Thickened cortex of bones	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0100039	HP:0100039	Thickened cortex of bones	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0100039	HP:0100039	Thickened cortex of bones	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome		1952
HP:0100039	HP:0100039	Thickened cortex of bones	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0100039	HP:0100039	Thickened cortex of bones	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0100039	HP:0100039	Thickened cortex of bones	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0100039	HP:0100039	Thickened cortex of bones	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0100039	HP:0100039	Thickened cortex of bones	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0100039	HP:0100039	Thickened cortex of bones	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0100039	HP:0004271	Cortical thickening of hand bones	1	CL E G H
HP:0100039	HP:0000935	Thickened cortex of long bones	1	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040281 - Very frequent	304
HP:0100039	HP:0000935	Thickened cortex of long bones	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease		373
HP:0100039	HP:0000935	Thickened cortex of long bones	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome		8
HP:0100039	HP:0000935	Thickened cortex of long bones	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.	8
HP:0100039	HP:0000935	Thickened cortex of long bones	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent	144
HP:0100039	HP:0000935	Thickened cortex of long bones	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0100039	HP:0000935	Thickened cortex of long bones	1	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.	125
HP:0100039	HP:0000935	Thickened cortex of long bones	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1		125
HP:0100039	HP:0000935	Thickened cortex of long bones	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0100039	HP:0000935	Thickened cortex of long bones	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0100039	HP:0000935	Thickened cortex of long bones	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0100039	HP:0000935	Thickened cortex of long bones	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1		26
HP:0100039	HP:0000935	Thickened cortex of long bones	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome		52
HP:0100039	HP:0000935	Thickened cortex of long bones	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0100039	HP:0000935	Thickened cortex of long bones	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease		13
HP:0100039	HP:0000935	Thickened cortex of long bones	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0100039	HP:0005665	Massively thickened long bone cortices	2	CL E G H
HP:0100039	HP:0003868	Humeral cortical thickening	2	CL E G H
HP:0100039	HP:0005791	Cortical thickening of long bone diaphyses	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional	373
HP:0100039	HP:0005791	Cortical thickening of long bone diaphyses	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent	8
HP:0100039	HP:0005791	Cortical thickening of long bone diaphyses	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0100039	HP:0006415	Cortically dense long tubular bones	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26
HP:0100039	HP:0005791	Cortical thickening of long bone diaphyses	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent	52
HP:0100039	HP:0005791	Cortical thickening of long bone diaphyses	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent	13
HP:0100039	HP:0005791	Cortical thickening of long bone diaphyses	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13

Genes (12) :ANO5 COL1A1 FAM111A LIFR LRP5 MAN2B1 NF1 SETBP1 SOST TBCE TGFB1 TRIM37

Diseases (16) :ORPHA:53697 ORPHA:1310 ORPHA:93325 OMIM:127000 ORPHA:3206 OMIM:601559 OMIM:144750 OMIM:607634 ORPHA:309282 ORPHA:97685 OMIM:269150 OMIM:269500 ORPHA:93324 ORPHA:1328 OMIM:131300 OMIM:253250

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen