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:
Abnormality of bone mineral density (HP:0004348)

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

..Starting node
..Generalized osteosclerosis (HP:0005789)

Term ID:

5789

Name:

Generalized osteosclerosis

Synonym:

Diffuse, symmetrical osteosclerosis; Generalised osteosclerosis; Increased bone density in skeletal bones; Osteosclerosis, diffuse symmetrical

Definition:

An abnormal increase of bone mineral density with generalized involvement of the skeleton.

Comments:

Reference:

HP:0005789

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bone-in-a-bone appearance of carpal bones (HP:0004234)

Clavicular sclerosis (HP:0100923)

Cortical sclerosis (HP:0005652)

Craniofacial osteosclerosis (HP:0005464)

Increased bone density with cystic changes (HP:0005700)

Increased density of long bones (HP:0006392)

Increased skull ossification (HP:0004330)

Ivory epiphyses of the metacarpals (HP:0009191)

Metacarpal diaphyseal endosteal sclerosis (HP:0006174)

Osteopetrosis (HP:0011002)

Osteopoikilosis (HP:0010739)

Patchy osteosclerosis (HP:0005686)

Sclerosis of foot bone (HP:0100925)

Sclerosis of hand bone (HP:0004054)

Sclerosis of skull base (HP:0002694)

Sclerotic scapulae (HP:0001474)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005789	HP:0005789	Generalized osteosclerosis	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0005789	HP:0005789	Generalized osteosclerosis	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0005789	HP:0005789	Generalized osteosclerosis	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0005789	HP:0005789	Generalized osteosclerosis	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0005789	HP:0005789	Generalized osteosclerosis	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0005789	HP:0005789	Generalized osteosclerosis	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0005789	HP:0005789	Generalized osteosclerosis	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent		125
HP:0005789	HP:0005789	Generalized osteosclerosis	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		125
HP:0005789	HP:0005789	Generalized osteosclerosis	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1	.		125
HP:0005789	HP:0005789	Generalized osteosclerosis	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare		217
HP:0005789	HP:0005789	Generalized osteosclerosis	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0005789	HP:0005789	Generalized osteosclerosis	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	HP:0003577 - Congenital onset	58
HP:0005789	HP:0005789	Generalized osteosclerosis	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		26
HP:0005789	HP:0005789	Generalized osteosclerosis	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82

Genes (10) :CLCN7 CTSK DHCR24 LEMD3 LRP5 PHEX PLEKHM1 PTH1R SOST TCIRG1

Diseases (11) :ORPHA:53 ORPHA:210110 OMIM:166600 ORPHA:763 OMIM:602398 ORPHA:1306 ORPHA:2790 ORPHA:3416 OMIM:607634 ORPHA:89936 OMIM:215045

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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