Human Phenotype Ontology

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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 cortical bone morphology (HP:0003103)

Parent Node:
Abnormal long bone morphology (HP:0011314)

Parent Node:
Thickened cortex of bones (HP:0100039)

..Starting node
..Thickened cortex of long bones (HP:0000935)

Term ID:

935

Name:

Thickened cortex of long bones

Synonym:

Broad cortex of long bones; Cortical thickening of the long bones; Thickened cortices of long bones

Definition:

Abnormal thickening of the cortex of long bones.

Comments:

Reference:

HP:0000935

Genes and Diseases:

Child Nodes:

........

Humeral cortical thickening (HP:0003868)

........

Massively thickened long bone cortices (HP:0005665)

........

Cortical thickening of long bone diaphyses (HP:0005791)

........

Cortically dense long tubular bones (HP:0006415)

Sister Nodes:

Cortical thickening of hand bones (HP:0004271)

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

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