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 long bone morphology (HP:0011314)

Grandparent Node:
Increased bone mineral density (HP:0011001)

Parent Node:
Abnormal diaphysis morphology (HP:0000940)

Parent Node:
Increased density of long bones (HP:0006392)

..Starting node
..Diaphyseal sclerosis (HP:0003034)

Term ID:

3034

Name:

Diaphyseal sclerosis

Synonym:

Craniodiaphyseal osteosclerosis; Diaphyseal osteosclerosis; Increased bone density in shaft of long bone

Definition:

An elevation in bone density in one or more diaphyses. Sclerosis is normally detected on a radiograph as an area of increased opacity.

Comments:

Reference:

HP:0003034

Genes and Diseases:

Child Nodes:

........

Diaphyseal sclerosis of the upper limbs (HP:0003860)

................... HP:0003933 Sclerosis of humeral diaphysis

........

Diaphyseal cortical sclerosis (HP:0005045)

Sister Nodes:

Humeral sclerosis (HP:0003881)

Increased density of long bone diaphyses (HP:0006440)

Osteosclerosis of the ulna (HP:0003991)

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:0003034	HP:0003034	Diaphyseal sclerosis	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia		304
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	101
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.	26
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional	86
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0003034	HP:0003034	Diaphyseal sclerosis	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0003034	HP:0003860	Diaphyseal sclerosis of the upper limbs	1	CL E G H
HP:0003034	HP:0005045	Diaphyseal cortical sclerosis	1	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.	304
HP:0003034	HP:0005045	Diaphyseal cortical sclerosis	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0003034	HP:0003933	Sclerosis of humeral diaphysis	2	CL E G H

Genes (9) :ANO5 CA2 CSF1R GNAS MTAP SOST STX16 TGFB1 TNFSF11

Diseases (8) :OMIM:166260 OMIM:259730 OMIM:618476 ORPHA:94089 OMIM:112250 OMIM:122860 OMIM:131300 OMIM:259710

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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