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
..Localized osteoporosis (HP:0040161)

Term ID:

40161

Name:

Localized osteoporosis

Synonym:

Localised osteoporosis

Definition:

Comments:

Reference:

HP:0040161

Genes and Diseases:

Child Nodes:

........

Osteoporosis of vertebrae (HP:0005625)

Sister Nodes:

Generalized osteoporosis (HP:0040160)

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:0040161	HP:0040161	Localized osteoporosis	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis		16
HP:0040161	HP:0040161	Localized osteoporosis	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0040161	HP:0040161	Localized osteoporosis	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0040161	HP:0040161	Localized osteoporosis	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis		50
HP:0040161	HP:0040161	Localized osteoporosis	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		173
HP:0040161	HP:0040161	Localized osteoporosis	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		21
HP:0040161	HP:0040161	Localized osteoporosis	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy		34
HP:0040161	HP:0040161	Localized osteoporosis	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		43
HP:0040161	HP:0040161	Localized osteoporosis	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis		25
HP:0040161	HP:0040161	Localized osteoporosis	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis		38
HP:0040161	HP:0040161	Localized osteoporosis	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis		5
HP:0040161	HP:0040161	Localized osteoporosis	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		41
HP:0040161	HP:0040161	Localized osteoporosis	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0040161	HP:0040161	Localized osteoporosis	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		36
HP:0040161	HP:0040161	Localized osteoporosis	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms		54
HP:0040161	HP:0040161	Localized osteoporosis	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism		54
HP:0040161	HP:0040161	Localized osteoporosis	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0040161	HP:0040161	Localized osteoporosis	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly		90
HP:0040161	HP:0040161	Localized osteoporosis	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism		24
HP:0040161	HP:0040161	Localized osteoporosis	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis		2
HP:0040161	HP:0040161	Localized osteoporosis	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional	46
HP:0040161	HP:0040161	Localized osteoporosis	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	16
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	50
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	173
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	21
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	43
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	25
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	38
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	5
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	41
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	36
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional	54
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional	54
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.	90
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional	24
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent	2
HP:0040161	HP:0005625	Osteoporosis of vertebrae	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent

Genes (21) :BMP15 BNC1 FOXA2 FSHR GLI2 HESX1 HTRA1 LHX4 MRPS22 NR5A1 NUP107 OTX2 POLR3H POU1F1 PROP1 PSMC3IP RUNX2 SOX3 SPIDR TRAPPC2 ZSWIM7

Diseases (6) :ORPHA:243 ORPHA:95494 ORPHA:199354 ORPHA:90695 OMIM:156510 ORPHA:93284

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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