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:
Reduced bone mineral density (HP:0004349)

Parent Node:
Osteoporosis (HP:0000939)

..Starting node
..Generalized osteoporosis (HP:0040160)

Term ID:

40160

Name:

Generalized osteoporosis

Synonym:

Generalised osteoporosis; Generalised osteoporosis with pathologic fractures; Generalized osteoporosis with pathologic fractures

Definition:

Comments:

Reference:

HP:0040160

Genes and Diseases:

Child Nodes:

........

Moderate generalized osteoporosis (HP:0005653)

........

Severe generalized osteoporosis (HP:0005897)

Sister Nodes:

Localized osteoporosis (HP:0040161)

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:0040160	HP:0040160	Generalized osteoporosis	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	5
HP:0040160	HP:0040160	Generalized osteoporosis	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.	242
HP:0040160	HP:0040160	Generalized osteoporosis	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0040160	HP:0040160	Generalized osteoporosis	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	169
HP:0040160	HP:0040160	Generalized osteoporosis	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional	165
HP:0040160	HP:0040160	Generalized osteoporosis	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0040160	HP:0040160	Generalized osteoporosis	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0040160	HP:0040160	Generalized osteoporosis	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	HP:0040283 - Occasional	284
HP:0040160	HP:0040160	Generalized osteoporosis	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	51
HP:0040160	HP:0040160	Generalized osteoporosis	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.	645
HP:0040160	HP:0040160	Generalized osteoporosis	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent	462
HP:0040160	HP:0040160	Generalized osteoporosis	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome	.	2
HP:0040160	HP:0040160	Generalized osteoporosis	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome		34
HP:0040160	HP:0040160	Generalized osteoporosis	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.	34
HP:0040160	HP:0040160	Generalized osteoporosis	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0040160	HP:0040160	Generalized osteoporosis	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0040160	HP:0040160	Generalized osteoporosis	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0040160	HP:0040160	Generalized osteoporosis	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0040160	HP:0005653	Moderate generalized osteoporosis	1	CL E G H
HP:0040160	HP:0005897	Severe generalized osteoporosis	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0040160	HP:0005897	Severe generalized osteoporosis	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243

Genes (18) :B3GAT3 CBS CCN6 CDC73 CHST3 COL1A1 COL1A2 COL2A1 GCM2 LMNA MEN1 MMP14 SATB2 SP7 STAT1 TENT5A TOM1 ZBTB20

Diseases (13) :OMIM:245600 OMIM:236200 ORPHA:1159 ORPHA:99879 OMIM:259420 OMIM:608805 OMIM:176670 OMIM:277950 OMIM:612313 OMIM:613849 ORPHA:391487 OMIM:617952 OMIM:259050

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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