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:
Abnormality of bone mineral density (HP:0004348)

Parent Node:
Reduced bone mineral density (HP:0004349)

..Starting node
..Osteoporosis (HP:0000939)

Term ID:

939

Name:

Osteoporosis

Synonym:

Definition:

Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).

Comments:

Reference:

HP:0000939

Genes and Diseases:

Child Nodes:

........

Generalized osteoporosis (HP:0040160)

................... HP:0005653 Moderate generalized osteoporosis
................... HP:0005897 Severe generalized osteoporosis

........

Localized osteoporosis (HP:0040161)

................... HP:0005625 Osteoporosis of vertebrae

Sister Nodes:

Generalized bone demineralization (HP:0006462)

Osteomalacia (HP:0002749)

Osteopenia (HP:0000938)

Patchy reduction of bone mineral density (HP:0010657)

Patchy variation in bone mineral density (HP:0010659)

Rickets (HP:0002748)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000939	HP:0000939	Osteoporosis	0	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0000939	HP:0000939	Osteoporosis	0	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000939	HP:0000939	Osteoporosis	0	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000939	HP:0000939	Osteoporosis	0	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000939	HP:0000939	Osteoporosis	0	AIP CL E G H	9049	2965				ORPHA	1	741	358	605555
HP:0000939	HP:0000939	Osteoporosis	0	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000939	HP:0000939	Osteoporosis	0	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0000939	HP:0000939	Osteoporosis	0	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	426	6211	300836
HP:0000939	HP:0000939	Osteoporosis	0	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	264	21732	608041
HP:0000939	HP:0000939	Osteoporosis	0	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0000939	HP:0000939	Osteoporosis	0	AR CL E G H	367	99429				ORPHA	1	556	644	313700
HP:0000939	HP:0000939	Osteoporosis	0	ARMC5 CL E G H	79798	189427				ORPHA	1	100	25781	615549
HP:0000939	HP:0000939	Osteoporosis	0	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000939	HP:0000939	Osteoporosis	0	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0000939	HP:0000939	Osteoporosis	0	ATP7A CL E G H	538	198				ORPHA	1	1283	869	300011
HP:0000939	HP:0000939	Osteoporosis	0	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000939	HP:0000939	Osteoporosis	0	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1283	869	300011
HP:0000939	HP:0000939	Osteoporosis	0	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0000939	HP:0000939	Osteoporosis	0	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000939	HP:0000939	Osteoporosis	0	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	154	923	606374
HP:0000939	HP:0000939	Osteoporosis	0	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000939	HP:0000939	Osteoporosis	0	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	239	19721	613165
HP:0000939	HP:0000939	Osteoporosis	0	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0000939	HP:0000939	Osteoporosis	0	CBS CL E G H	875	394				ORPHA	1	967	1550	613381
HP:0000939	HP:0000939	Osteoporosis	0	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000939	HP:0000939	Osteoporosis	0	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	122	12771	603400
HP:0000939	HP:0000939	Osteoporosis	0	CDC73 CL E G H	79577	99880				ORPHA	1	1148	16783	607393
HP:0000939	HP:0000939	Osteoporosis	0	CDC73 CL E G H	79577	143				ORPHA	1	1148	16783	607393
HP:0000939	HP:0000939	Osteoporosis	0	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0000939	HP:0000939	Osteoporosis	0	CDH23 CL E G H	64072	91347				ORPHA	1	3604	13733	605516
HP:0000939	HP:0000939	Osteoporosis	0	CDH23 CL E G H	64072	2965				ORPHA	1	3604	13733	605516
HP:0000939	HP:0000939	Osteoporosis	0	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2318	20626	608892
HP:0000939	HP:0000939	Osteoporosis	0	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	352	1971	603799
HP:0000939	HP:0000939	Osteoporosis	0	COL7A1 CL E G H	1294	79408				ORPHA	1	2616	2214	120120
HP:0000939	HP:0000939	Osteoporosis	0	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0000939	HP:0000939	Osteoporosis	0	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000939	HP:0000939	Osteoporosis	0	CYB5A CL E G H	1528	90796				ORPHA	1	162	2570	613218
HP:0000939	HP:0000939	Osteoporosis	0	CYP11A1 CL E G H	1583	289548				ORPHA	1	125	2590	118485
HP:0000939	HP:0000939	Osteoporosis	0	CYP11A1 CL E G H	1583	168558				ORPHA	1	125	2590	118485
HP:0000939	HP:0000939	Osteoporosis	0	CYP11B1 CL E G H	1584	90795				ORPHA	1	582	2591	610613
HP:0000939	HP:0000939	Osteoporosis	0	CYP17A1 CL E G H	1586	90793				ORPHA	1	311	2593	609300
HP:0000939	HP:0000939	Osteoporosis	0	CYP17A1 CL E G H	1586	90796				ORPHA	1	311	2593	609300
HP:0000939	HP:0000939	Osteoporosis	0	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	341	2594	107910
HP:0000939	HP:0000939	Osteoporosis	0	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0000939	HP:0000939	Osteoporosis	0	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0000939	HP:0000939	Osteoporosis	0	DKK1 CL E G H	22943	85193				ORPHA	1	24	2891	605189
HP:0000939	HP:0000939	Osteoporosis	0	DMRT3 CL E G H	58524	251510				ORPHA	1	210	13909	614754
HP:0000939	HP:0000939	Osteoporosis	0	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	51	3072	602748
HP:0000939	HP:0000939	Osteoporosis	0	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0000939	HP:0000939	Osteoporosis	0	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000939	HP:0000939	Osteoporosis	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000939	HP:0000939	Osteoporosis	0	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000939	HP:0000939	Osteoporosis	0	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0000939	HP:0000939	Osteoporosis	0	ESR1 CL E G H	2099	785	Arthrogryposis multiplex congenita CNS calcification			ORPHA	1	191	3467	133430
HP:0000939	HP:0000939	Osteoporosis	0	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	100	3673	603725
HP:0000939	HP:0000939	Osteoporosis	0	FGF8 CL E G H	2253	432	Arbovirosis			ORPHA	1	77	3686	600483
HP:0000939	HP:0000939	Osteoporosis	0	FGFR1 CL E G H	2260	432	Arbovirosis			ORPHA	1	688	3688	136350
HP:0000939	HP:0000939	Osteoporosis	0	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	292	18169	607063
HP:0000939	HP:0000939	Osteoporosis	0	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	292	18169	607063
HP:0000939	HP:0000939	Osteoporosis	0	FSHR CL E G H	2492	233300	Ovarian dysgenesis 1	233300	C0949595	OMIM	1	176	3969	136435
HP:0000939	HP:0000939	Osteoporosis	0	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0000939	HP:0000939	Osteoporosis	0	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	944	4122	612222
HP:0000939	HP:0000939	Osteoporosis	0	GALT CL E G H	2592	79239				ORPHA	1	645	4135	606999
HP:0000939	HP:0000939	Osteoporosis	0	GATA4 CL E G H	2626	251510				ORPHA	1	630	4173	600576
HP:0000939	HP:0000939	Osteoporosis	0	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	220	4289	300474
HP:0000939	HP:0000939	Osteoporosis	0	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	696	4298	611458
HP:0000939	HP:0000939	Osteoporosis	0	GNAS CL E G H	2778	189427				ORPHA	1	445	4392	139320
HP:0000939	HP:0000939	Osteoporosis	0	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0000939	HP:0000939	Osteoporosis	0	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	445	4392	139320
HP:0000939	HP:0000939	Osteoporosis	0	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	445	4392	139320
HP:0000939	HP:0000939	Osteoporosis	0	GNAS CL E G H	2778	612463	Pseudopseudohypoparathyroidism	612463	C0033835	OMIM	1	445	4392	139320
HP:0000939	HP:0000939	Osteoporosis	0	GNRH1 CL E G H	2796	432	Arbovirosis			ORPHA	1	117	4419	152760
HP:0000939	HP:0000939	Osteoporosis	0	GNRHR CL E G H	2798	432	Arbovirosis			ORPHA	1	182	4421	138850
HP:0000939	HP:0000939	Osteoporosis	0	GORAB CL E G H	92344	2078				ORPHA	1	198	25676	607983
HP:0000939	HP:0000939	Osteoporosis	0	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	198	25676	607983
HP:0000939	HP:0000939	Osteoporosis	0	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	353	4446	603048
HP:0000939	HP:0000939	Osteoporosis	0	HBB CL E G H	3043	231214				ORPHA	1	1450	4827	141900
HP:0000939	HP:0000939	Osteoporosis	0	HBB CL E G H	3043	232	Medullary sponge kidney			ORPHA	1	1450	4827	141900
HP:0000939	HP:0000939	Osteoporosis	0	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	185	4886	613609
HP:0000939	HP:0000939	Osteoporosis	0	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	196	5154	601688
HP:0000939	HP:0000939	Osteoporosis	0	HS6ST1 CL E G H	9394	432	Arbovirosis			ORPHA	1	85	5201	604846
HP:0000939	HP:0000939	Osteoporosis	0	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	786	5213	601860
HP:0000939	HP:0000939	Osteoporosis	0	HSD3B2 CL E G H	3284	90791				ORPHA	1	231	5218	613890
HP:0000939	HP:0000939	Osteoporosis	0	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0000939	HP:0000939	Osteoporosis	0	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0000939	HP:0000939	Osteoporosis	0	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	892	18873	606951
HP:0000939	HP:0000939	Osteoporosis	0	IFT122 CL E G H	55764	1515				ORPHA	1	462	13556	606045
HP:0000939	HP:0000939	Osteoporosis	0	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0000939	HP:0000939	Osteoporosis	0	IFT43 CL E G H	112752	1515				ORPHA	1	199	29669	614068
HP:0000939	HP:0000939	Osteoporosis	0	IFT52 CL E G H	51098	1515				ORPHA	1	112	15901	617094
HP:0000939	HP:0000939	Osteoporosis	0	IGF1 CL E G H	3479	73272				ORPHA	1	183	5464	147440
HP:0000939	HP:0000939	Osteoporosis	0	KCNJ8 CL E G H	3764	1517				ORPHA	1	173	6269	600935
HP:0000939	HP:0000939	Osteoporosis	0	KISS1 CL E G H	3814	432	Arbovirosis			ORPHA	1	44	6341	603286
HP:0000939	HP:0000939	Osteoporosis	0	KISS1R CL E G H	84634	432	Arbovirosis			ORPHA	1	119	4510	604161
HP:0000939	HP:0000939	Osteoporosis	0	LIFR CL E G H	3977	3206				ORPHA	1	721	6597	151443
HP:0000939	HP:0000939	Osteoporosis	0	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	721	6597	151443
HP:0000939	HP:0000939	Osteoporosis	0	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0000939	HP:0000939	Osteoporosis	0	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1622	6636	150330
HP:0000939	HP:0000939	Osteoporosis	0	LRP5 CL E G H	4041	2788				ORPHA	1	1354	6697	603506
HP:0000939	HP:0000939	Osteoporosis	0	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1354	6697	603506
HP:0000939	HP:0000939	Osteoporosis	0	MAP3K1 CL E G H	4214	251510				ORPHA	1	184	6848	600982
HP:0000939	HP:0000939	Osteoporosis	0	MEN1 CL E G H	4221	2965				ORPHA	1	1906	7010	613733
HP:0000939	HP:0000939	Osteoporosis	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	206	12744	605678
HP:0000939	HP:0000939	Osteoporosis	0	MMP1 CL E G H	4312	79408				ORPHA	1	72	7155	120353
HP:0000939	HP:0000939	Osteoporosis	0	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000939	HP:0000939	Osteoporosis	0	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	153	14377	606470
HP:0000939	HP:0000939	Osteoporosis	0	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	89	14378	606471
HP:0000939	HP:0000939	Osteoporosis	0	NOTCH2 CL E G H	4853	955				ORPHA	1	750	7882	600275
HP:0000939	HP:0000939	Osteoporosis	0	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	750	7882	600275
HP:0000939	HP:0000939	Osteoporosis	0	NR0B1 CL E G H	190	251510				ORPHA	1	306	7960	300473
HP:0000939	HP:0000939	Osteoporosis	0	NR5A1 CL E G H	2516	251510				ORPHA	1	205	7983	184757
HP:0000939	HP:0000939	Osteoporosis	0	NSMF CL E G H	26012	432	Arbovirosis			ORPHA	1	145	29843	608137
HP:0000939	HP:0000939	Osteoporosis	0	NSMF CL E G H	26012	614838	Hypogonadotropic hypogonadism 9 with or without anosmia	614838	C3553842	OMIM	1	145	29843	608137
HP:0000939	HP:0000939	Osteoporosis	0	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	908	8653	232000
HP:0000939	HP:0000939	Osteoporosis	0	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	734	8654	232050
HP:0000939	HP:0000939	Osteoporosis	0	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	150	8773	604961
HP:0000939	HP:0000939	Osteoporosis	0	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	150	8773	604961
HP:0000939	HP:0000939	Osteoporosis	0	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	179	8794	603390
HP:0000939	HP:0000939	Osteoporosis	0	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	360	8854	601758
HP:0000939	HP:0000939	Osteoporosis	0	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0000939	HP:0000939	Osteoporosis	0	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	794	9081	153454
HP:0000939	HP:0000939	Osteoporosis	0	PLOD2 CL E G H	5352	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	305	9082	601865
HP:0000939	HP:0000939	Osteoporosis	0	PLS3 CL E G H	5358	300910	Bone mineral density quantitative trait locus 18	300910	C3806712	OMIM	1	282	9091	300131
HP:0000939	HP:0000939	Osteoporosis	0	POF1B CL E G H	79983	300604	Premature ovarian failure 2b	300604	C1845105	OMIM	1	218	13711	300603
HP:0000939	HP:0000939	Osteoporosis	0	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0000939	HP:0000939	Osteoporosis	0	POR CL E G H	5447	95699				ORPHA	1	402	9208	124015
HP:0000939	HP:0000939	Osteoporosis	0	PRDM5 CL E G H	11107	90354				ORPHA	1	347	9349	614161
HP:0000939	HP:0000939	Osteoporosis	0	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	32	9380	601639
HP:0000939	HP:0000939	Osteoporosis	0	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	32	9380	601639
HP:0000939	HP:0000939	Osteoporosis	0	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	916	9388	188830
HP:0000939	HP:0000939	Osteoporosis	0	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	916	9388	188830
HP:0000939	HP:0000939	Osteoporosis	0	PROK2 CL E G H	60675	432	Arbovirosis			ORPHA	1	55	18455	607002
HP:0000939	HP:0000939	Osteoporosis	0	PROKR2 CL E G H	128674	432	Arbovirosis			ORPHA	1	132	15836	607123
HP:0000939	HP:0000939	Osteoporosis	0	PYCR1 CL E G H	5831	2078				ORPHA	1	208	9721	179035
HP:0000939	HP:0000939	Osteoporosis	0	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	317	17063	602536
HP:0000939	HP:0000939	Osteoporosis	0	RECQL4 CL E G H	9401	268400	Rothmund-Thomson syndrome	268400	C0032339	OMIM	1	3666	9949	603780
HP:0000939	HP:0000939	Osteoporosis	0	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0000939	HP:0000939	Osteoporosis	0	RPL11 CL E G H	6135	612562	Diamond-Blackfan anemia 7	612562	C2675512	OMIM	1	125	10301	604175
HP:0000939	HP:0000939	Osteoporosis	0	RUNX2 CL E G H	860	1452				ORPHA	1	373	10472	600211
HP:0000939	HP:0000939	Osteoporosis	0	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	428	29242	613293
HP:0000939	HP:0000939	Osteoporosis	0	SLC25A19 CL E G H	60386	99742				ORPHA	1	136	14409	606521
HP:0000939	HP:0000939	Osteoporosis	0	SLC34A1 CL E G H	6569	612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	612286	C2676786	OMIM	1	334	11019	182309
HP:0000939	HP:0000939	Osteoporosis	0	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	819	4061	602671
HP:0000939	HP:0000939	Osteoporosis	0	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	528	11065	603593
HP:0000939	HP:0000939	Osteoporosis	0	SLC9A3R1 CL E G H	9368	612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	612287	C2676782	OMIM	1	62	11075	604990
HP:0000939	HP:0000939	Osteoporosis	0	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	747	11120	607608
HP:0000939	HP:0000939	Osteoporosis	0	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	264	11123	300105
HP:0000939	HP:0000939	Osteoporosis	0	SOX9 CL E G H	6662	251510				ORPHA	1	280	11204	608160
HP:0000939	HP:0000939	Osteoporosis	0	SPARC CL E G H	6678	616507	Osteogenesis imperfecta, type xvii	616507	C4225301	OMIM	1	106	11219	182120
HP:0000939	HP:0000939	Osteoporosis	0	SPRY4 CL E G H	81848	432	Arbovirosis			ORPHA	1	45	15533	607984
HP:0000939	HP:0000939	Osteoporosis	0	SRY CL E G H	6736	251510				ORPHA	1	113	11311	480000
HP:0000939	HP:0000939	Osteoporosis	0	TAC3 CL E G H	6866	432	Arbovirosis			ORPHA	1	22	11521	162330
HP:0000939	HP:0000939	Osteoporosis	0	TACR3 CL E G H	6870	432	Arbovirosis			ORPHA	1	111	11528	162332
HP:0000939	HP:0000939	Osteoporosis	0	TERC CL E G H	7012	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	293	11727	602322
HP:0000939	HP:0000939	Osteoporosis	0	TERT CL E G H	7015	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	2449	11730	187270
HP:0000939	HP:0000939	Osteoporosis	0	TINF2 CL E G H	26277	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	330	11824	604319
HP:0000939	HP:0000939	Osteoporosis	0	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	330	11824	604319
HP:0000939	HP:0000939	Osteoporosis	0	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	122	30760	614726
HP:0000939	HP:0000939	Osteoporosis	0	TNFRSF11A CL E G H	8792	2801				ORPHA	1	420	11908	603499
HP:0000939	HP:0000939	Osteoporosis	0	TNFRSF11B CL E G H	4982	2801				ORPHA	1	168	11909	602643
HP:0000939	HP:0000939	Osteoporosis	0	TNFRSF11B CL E G H	4982	239000	Hyperphosphatasemia with bone disease	239000	C0268414	OMIM	1	168	11909	602643
HP:0000939	HP:0000939	Osteoporosis	0	TRIP11 CL E G H	9321	184260	Goldblatt hypertension	184260	C0018036	OMIM	1	608	12305	604505
HP:0000939	HP:0000939	Osteoporosis	0	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HP:0000939	HP:0000939	Osteoporosis	0	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	134	12631	603158
HP:0000939	HP:0000939	Osteoporosis	0	VAMP7 CL E G H	6845	251510				ORPHA	1	124	11486	300053
HP:0000939	HP:0000939	Osteoporosis	0	VDR CL E G H	7421	166710	Postmenopausal osteoporosis	166710	C0029458	OMIM	1	269	12679	601769
HP:0000939	HP:0000939	Osteoporosis	0	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	315	25608	615850
HP:0000939	HP:0000939	Osteoporosis	0	WDR11 CL E G H	55717	432	Arbovirosis			ORPHA	1	293	13831	606417
HP:0000939	HP:0000939	Osteoporosis	0	WDR19 CL E G H	57728	1515				ORPHA	1	749	18340	608151
HP:0000939	HP:0000939	Osteoporosis	0	WDR35 CL E G H	57539	1515				ORPHA	1	523	29250	613602
HP:0000939	HP:0000939	Osteoporosis	0	WNT1 CL E G H	7471	85193				ORPHA	1	115	12774	164820
HP:0000939	HP:0000939	Osteoporosis	0	WNT3A CL E G H	89780	85193				ORPHA	1	80	15983	606359
HP:0000939	HP:0000939	Osteoporosis	0	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	1	2665	12791	604611
HP:0000939	HP:0000939	Osteoporosis	0	WRN CL E G H	7486	277700	Werner syndrome	277700	C0043119	OMIM	1	2665	12791	604611
HP:0000939	HP:0000939	Osteoporosis	0	WT1 CL E G H	7490	251510				ORPHA	1	1146	12796	607102
HP:0000939	HP:0000939	Osteoporosis	0	WWOX CL E G H	51741	251510				ORPHA	1	967	12799	605131
HP:0000939	HP:0000939	Osteoporosis	0	XYLT2 CL E G H	64132	85194				ORPHA	1	190	15517	608125
HP:0000939	HP:0000939	Osteoporosis	0	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	168	13503	606025
HP:0000939	HP:0000939	Osteoporosis	0	ZFPM2 CL E G H	23414	251510				ORPHA	1	241	16700	603693
HP:0000939	HP:0000939	Osteoporosis	0	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	176	12877	606480
HP:0000939	HP:0000939	Osteoporosis	0	ZNF469 CL E G H	84627	90354				ORPHA	1	2415	23216	612078
HP:0000939	HP:0040161	Localized osteoporosis	1	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0000939	HP:0040160	Generalized osteoporosis	1	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0000939	HP:0040160	Generalized osteoporosis	1	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000939	HP:0040161	Localized osteoporosis	1	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000939	HP:0040161	Localized osteoporosis	1	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000939	HP:0040160	Generalized osteoporosis	1	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000939	HP:0040161	Localized osteoporosis	1	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000939	HP:0040160	Generalized osteoporosis	1	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000939	HP:0040160	Generalized osteoporosis	1	AIP CL E G H	9049	2965				ORPHA	1	741	358	605555
HP:0000939	HP:0040161	Localized osteoporosis	1	AIP CL E G H	9049	2965				ORPHA	1	741	358	605555
HP:0000939	HP:0040160	Generalized osteoporosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000939	HP:0040161	Localized osteoporosis	1	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000939	HP:0040160	Generalized osteoporosis	1	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0000939	HP:0040161	Localized osteoporosis	1	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0000939	HP:0040160	Generalized osteoporosis	1	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	426	6211	300836
HP:0000939	HP:0040161	Localized osteoporosis	1	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	426	6211	300836
HP:0000939	HP:0040160	Generalized osteoporosis	1	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	264	21732	608041
HP:0000939	HP:0040161	Localized osteoporosis	1	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	264	21732	608041
HP:0000939	HP:0040160	Generalized osteoporosis	1	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0000939	HP:0040161	Localized osteoporosis	1	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0000939	HP:0040160	Generalized osteoporosis	1	AR CL E G H	367	99429				ORPHA	1	556	644	313700
HP:0000939	HP:0040161	Localized osteoporosis	1	AR CL E G H	367	99429				ORPHA	1	556	644	313700
HP:0000939	HP:0040160	Generalized osteoporosis	1	ARMC5 CL E G H	79798	189427				ORPHA	1	100	25781	615549
HP:0000939	HP:0040161	Localized osteoporosis	1	ARMC5 CL E G H	79798	189427				ORPHA	1	100	25781	615549
HP:0000939	HP:0040161	Localized osteoporosis	1	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000939	HP:0040160	Generalized osteoporosis	1	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000939	HP:0040160	Generalized osteoporosis	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0000939	HP:0040161	Localized osteoporosis	1	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0000939	HP:0040161	Localized osteoporosis	1	ATP7A CL E G H	538	198				ORPHA	1	1283	869	300011
HP:0000939	HP:0040160	Generalized osteoporosis	1	ATP7A CL E G H	538	198				ORPHA	1	1283	869	300011
HP:0000939	HP:0040160	Generalized osteoporosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000939	HP:0040161	Localized osteoporosis	1	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000939	HP:0040160	Generalized osteoporosis	1	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1283	869	300011
HP:0000939	HP:0040161	Localized osteoporosis	1	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1283	869	300011
HP:0000939	HP:0040160	Generalized osteoporosis	1	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0000939	HP:0040161	Localized osteoporosis	1	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0000939	HP:0040160	Generalized osteoporosis	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000939	HP:0040161	Localized osteoporosis	1	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000939	HP:0040160	Generalized osteoporosis	1	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	154	923	606374
HP:0000939	HP:0040161	Localized osteoporosis	1	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	154	923	606374
HP:0000939	HP:0040161	Localized osteoporosis	1	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000939	HP:0040160	Generalized osteoporosis	1	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000939	HP:0040160	Generalized osteoporosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	239	19721	613165
HP:0000939	HP:0040161	Localized osteoporosis	1	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	239	19721	613165
HP:0000939	HP:0040160	Generalized osteoporosis	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0000939	HP:0040161	Localized osteoporosis	1	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0000939	HP:0040161	Localized osteoporosis	1	CBS CL E G H	875	394				ORPHA	1	967	1550	613381
HP:0000939	HP:0040160	Generalized osteoporosis	1	CBS CL E G H	875	394				ORPHA	1	967	1550	613381
HP:0000939	HP:0040160	Generalized osteoporosis	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000939	HP:0040161	Localized osteoporosis	1	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000939	HP:0040160	Generalized osteoporosis	1	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	122	12771	603400
HP:0000939	HP:0040161	Localized osteoporosis	1	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	122	12771	603400
HP:0000939	HP:0040161	Localized osteoporosis	1	CDC73 CL E G H	79577	143				ORPHA	1	1148	16783	607393
HP:0000939	HP:0040160	Generalized osteoporosis	1	CDC73 CL E G H	79577	99880				ORPHA	1	1148	16783	607393
HP:0000939	HP:0040161	Localized osteoporosis	1	CDC73 CL E G H	79577	99880				ORPHA	1	1148	16783	607393
HP:0000939	HP:0040160	Generalized osteoporosis	1	CDC73 CL E G H	79577	143				ORPHA	1	1148	16783	607393
HP:0000939	HP:0040160	Generalized osteoporosis	1	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0000939	HP:0040160	Generalized osteoporosis	1	CDH23 CL E G H	64072	91347				ORPHA	1	3604	13733	605516
HP:0000939	HP:0040161	Localized osteoporosis	1	CDH23 CL E G H	64072	2965				ORPHA	1	3604	13733	605516
HP:0000939	HP:0040161	Localized osteoporosis	1	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0000939	HP:0040161	Localized osteoporosis	1	CDH23 CL E G H	64072	91347				ORPHA	1	3604	13733	605516
HP:0000939	HP:0040160	Generalized osteoporosis	1	CDH23 CL E G H	64072	2965				ORPHA	1	3604	13733	605516
HP:0000939	HP:0040161	Localized osteoporosis	1	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2318	20626	608892
HP:0000939	HP:0040160	Generalized osteoporosis	1	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2318	20626	608892
HP:0000939	HP:0040160	Generalized osteoporosis	1	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	352	1971	603799
HP:0000939	HP:0040161	Localized osteoporosis	1	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	352	1971	603799
HP:0000939	HP:0040160	Generalized osteoporosis	1	COL7A1 CL E G H	1294	79408				ORPHA	1	2616	2214	120120
HP:0000939	HP:0040161	Localized osteoporosis	1	COL7A1 CL E G H	1294	79408				ORPHA	1	2616	2214	120120
HP:0000939	HP:0040161	Localized osteoporosis	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0000939	HP:0040160	Generalized osteoporosis	1	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0000939	HP:0040160	Generalized osteoporosis	1	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000939	HP:0040161	Localized osteoporosis	1	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYB5A CL E G H	1528	90796				ORPHA	1	162	2570	613218
HP:0000939	HP:0040161	Localized osteoporosis	1	CYB5A CL E G H	1528	90796				ORPHA	1	162	2570	613218
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP11A1 CL E G H	1583	289548				ORPHA	1	125	2590	118485
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP11A1 CL E G H	1583	289548				ORPHA	1	125	2590	118485
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP11A1 CL E G H	1583	168558				ORPHA	1	125	2590	118485
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP11A1 CL E G H	1583	168558				ORPHA	1	125	2590	118485
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP11B1 CL E G H	1584	90795				ORPHA	1	582	2591	610613
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP11B1 CL E G H	1584	90795				ORPHA	1	582	2591	610613
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP17A1 CL E G H	1586	90796				ORPHA	1	311	2593	609300
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP17A1 CL E G H	1586	90793				ORPHA	1	311	2593	609300
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP17A1 CL E G H	1586	90793				ORPHA	1	311	2593	609300
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP17A1 CL E G H	1586	90796				ORPHA	1	311	2593	609300
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	341	2594	107910
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	341	2594	107910
HP:0000939	HP:0040160	Generalized osteoporosis	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0000939	HP:0040161	Localized osteoporosis	1	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0000939	HP:0040160	Generalized osteoporosis	1	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0000939	HP:0040161	Localized osteoporosis	1	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0000939	HP:0040161	Localized osteoporosis	1	DKK1 CL E G H	22943	85193				ORPHA	1	24	2891	605189
HP:0000939	HP:0040160	Generalized osteoporosis	1	DKK1 CL E G H	22943	85193				ORPHA	1	24	2891	605189
HP:0000939	HP:0040160	Generalized osteoporosis	1	DMRT3 CL E G H	58524	251510				ORPHA	1	210	13909	614754
HP:0000939	HP:0040161	Localized osteoporosis	1	DMRT3 CL E G H	58524	251510				ORPHA	1	210	13909	614754
HP:0000939	HP:0040160	Generalized osteoporosis	1	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	51	3072	602748
HP:0000939	HP:0040161	Localized osteoporosis	1	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	51	3072	602748
HP:0000939	HP:0040161	Localized osteoporosis	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0000939	HP:0040160	Generalized osteoporosis	1	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0000939	HP:0040160	Generalized osteoporosis	1	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000939	HP:0040161	Localized osteoporosis	1	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000939	HP:0040160	Generalized osteoporosis	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000939	HP:0040161	Localized osteoporosis	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000939	HP:0040160	Generalized osteoporosis	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000939	HP:0040161	Localized osteoporosis	1	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000939	HP:0040160	Generalized osteoporosis	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0000939	HP:0040161	Localized osteoporosis	1	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0000939	HP:0040161	Localized osteoporosis	1	ESR1 CL E G H	2099	785	Arthrogryposis multiplex congenita CNS calcification			ORPHA	1	191	3467	133430
HP:0000939	HP:0040160	Generalized osteoporosis	1	ESR1 CL E G H	2099	785	Arthrogryposis multiplex congenita CNS calcification			ORPHA	1	191	3467	133430
HP:0000939	HP:0040161	Localized osteoporosis	1	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	100	3673	603725
HP:0000939	HP:0040160	Generalized osteoporosis	1	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	100	3673	603725
HP:0000939	HP:0040160	Generalized osteoporosis	1	FGF8 CL E G H	2253	432	Arbovirosis			ORPHA	1	77	3686	600483
HP:0000939	HP:0040161	Localized osteoporosis	1	FGF8 CL E G H	2253	432	Arbovirosis			ORPHA	1	77	3686	600483
HP:0000939	HP:0040161	Localized osteoporosis	1	FGFR1 CL E G H	2260	432	Arbovirosis			ORPHA	1	688	3688	136350
HP:0000939	HP:0040160	Generalized osteoporosis	1	FGFR1 CL E G H	2260	432	Arbovirosis			ORPHA	1	688	3688	136350
HP:0000939	HP:0040160	Generalized osteoporosis	1	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	292	18169	607063
HP:0000939	HP:0040161	Localized osteoporosis	1	FKBP10 CL E G H	60681	259450	Bruck syndrome 1	259450	C1850168	OMIM	1	292	18169	607063
HP:0000939	HP:0040161	Localized osteoporosis	1	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	292	18169	607063
HP:0000939	HP:0040160	Generalized osteoporosis	1	FKBP10 CL E G H	60681	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	292	18169	607063
HP:0000939	HP:0040160	Generalized osteoporosis	1	FSHR CL E G H	2492	233300	Ovarian dysgenesis 1	233300	C0949595	OMIM	1	176	3969	136435
HP:0000939	HP:0040161	Localized osteoporosis	1	FSHR CL E G H	2492	233300	Ovarian dysgenesis 1	233300	C0949595	OMIM	1	176	3969	136435
HP:0000939	HP:0040160	Generalized osteoporosis	1	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0000939	HP:0040161	Localized osteoporosis	1	G6PC CL E G H	2538	232200	Glycogen storage disease type 1A	232200	C2919796	OMIM	1		4056	613742
HP:0000939	HP:0040160	Generalized osteoporosis	1	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	944	4122	612222
HP:0000939	HP:0040161	Localized osteoporosis	1	GALNS CL E G H	2588	253000	Mucopolysaccharidosis, MPS-IV-A	253000	C0086651	OMIM	1	944	4122	612222
HP:0000939	HP:0040160	Generalized osteoporosis	1	GALT CL E G H	2592	79239				ORPHA	1	645	4135	606999
HP:0000939	HP:0040161	Localized osteoporosis	1	GALT CL E G H	2592	79239				ORPHA	1	645	4135	606999
HP:0000939	HP:0040160	Generalized osteoporosis	1	GATA4 CL E G H	2626	251510				ORPHA	1	630	4173	600576
HP:0000939	HP:0040161	Localized osteoporosis	1	GATA4 CL E G H	2626	251510				ORPHA	1	630	4173	600576
HP:0000939	HP:0040160	Generalized osteoporosis	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	220	4289	300474
HP:0000939	HP:0040161	Localized osteoporosis	1	GK CL E G H	2710	307030	Deficiency of glycerol kinase	307030	C0268418	OMIM	1	220	4289	300474
HP:0000939	HP:0040160	Generalized osteoporosis	1	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	696	4298	611458
HP:0000939	HP:0040161	Localized osteoporosis	1	GLB1 CL E G H	2720	253010	Mucopolysaccharidosis, MPS-IV-B	253010	C0086652	OMIM	1	696	4298	611458
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNAS CL E G H	2778	189427				ORPHA	1	445	4392	139320
HP:0000939	HP:0040161	Localized osteoporosis	1	GNAS CL E G H	2778	189427				ORPHA	1	445	4392	139320
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0000939	HP:0040161	Localized osteoporosis	1	GNAS CL E G H	2778	219080	Cushing's syndrome	219080	C1857451	OMIM	1	445	4392	139320
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	445	4392	139320
HP:0000939	HP:0040161	Localized osteoporosis	1	GNAS CL E G H	2778	103580	Pseudohypoparathyroidism	103580	C0033806	OMIM	1	445	4392	139320
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	445	4392	139320
HP:0000939	HP:0040161	Localized osteoporosis	1	GNAS CL E G H	2778	612462	Pseudohypoparathyroidism type 1C	612462	C2932716	OMIM	1	445	4392	139320
HP:0000939	HP:0040161	Localized osteoporosis	1	GNAS CL E G H	2778	612463	Pseudopseudohypoparathyroidism	612463	C0033835	OMIM	1	445	4392	139320
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNAS CL E G H	2778	612463	Pseudopseudohypoparathyroidism	612463	C0033835	OMIM	1	445	4392	139320
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNRH1 CL E G H	2796	432	Arbovirosis			ORPHA	1	117	4419	152760
HP:0000939	HP:0040161	Localized osteoporosis	1	GNRH1 CL E G H	2796	432	Arbovirosis			ORPHA	1	117	4419	152760
HP:0000939	HP:0040161	Localized osteoporosis	1	GNRHR CL E G H	2798	432	Arbovirosis			ORPHA	1	182	4421	138850
HP:0000939	HP:0040160	Generalized osteoporosis	1	GNRHR CL E G H	2798	432	Arbovirosis			ORPHA	1	182	4421	138850
HP:0000939	HP:0040160	Generalized osteoporosis	1	GORAB CL E G H	92344	2078				ORPHA	1	198	25676	607983
HP:0000939	HP:0040161	Localized osteoporosis	1	GORAB CL E G H	92344	2078				ORPHA	1	198	25676	607983
HP:0000939	HP:0040160	Generalized osteoporosis	1	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	198	25676	607983
HP:0000939	HP:0040161	Localized osteoporosis	1	GORAB CL E G H	92344	231070	Geroderma osteodysplastica	231070	C0432255	OMIM	1	198	25676	607983
HP:0000939	HP:0040160	Generalized osteoporosis	1	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	353	4446	603048
HP:0000939	HP:0040161	Localized osteoporosis	1	GPAA1 CL E G H	8733	617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15	617810	C4540520	OMIM	1	353	4446	603048
HP:0000939	HP:0040160	Generalized osteoporosis	1	HBB CL E G H	3043	231214				ORPHA	1	1450	4827	141900
HP:0000939	HP:0040161	Localized osteoporosis	1	HBB CL E G H	3043	231214				ORPHA	1	1450	4827	141900
HP:0000939	HP:0040160	Generalized osteoporosis	1	HBB CL E G H	3043	232	Medullary sponge kidney			ORPHA	1	1450	4827	141900
HP:0000939	HP:0040161	Localized osteoporosis	1	HBB CL E G H	3043	232	Medullary sponge kidney			ORPHA	1	1450	4827	141900
HP:0000939	HP:0040160	Generalized osteoporosis	1	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	185	4886	613609
HP:0000939	HP:0040161	Localized osteoporosis	1	HFE CL E G H	3077	235200	Hemochromatosis type 1	235200	C3469186	OMIM	1	185	4886	613609
HP:0000939	HP:0040160	Generalized osteoporosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	196	5154	601688
HP:0000939	HP:0040161	Localized osteoporosis	1	HPGD CL E G H	3248	259100	Pachydermoperiostosis syndrome	259100	C0029411	OMIM	1	196	5154	601688
HP:0000939	HP:0040160	Generalized osteoporosis	1	HS6ST1 CL E G H	9394	432	Arbovirosis			ORPHA	1	85	5201	604846
HP:0000939	HP:0040161	Localized osteoporosis	1	HS6ST1 CL E G H	9394	432	Arbovirosis			ORPHA	1	85	5201	604846
HP:0000939	HP:0040160	Generalized osteoporosis	1	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	786	5213	601860
HP:0000939	HP:0040161	Localized osteoporosis	1	HSD17B4 CL E G H	3295	233400	Perrault syndrome 1	233400		OMIM	1	786	5213	601860
HP:0000939	HP:0040161	Localized osteoporosis	1	HSD3B2 CL E G H	3284	90791				ORPHA	1	231	5218	613890
HP:0000939	HP:0040160	Generalized osteoporosis	1	HSD3B2 CL E G H	3284	90791				ORPHA	1	231	5218	613890
HP:0000939	HP:0040160	Generalized osteoporosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0000939	HP:0040161	Localized osteoporosis	1	HSPG2 CL E G H	3339	800				ORPHA	1	1830	5273	142461
HP:0000939	HP:0040160	Generalized osteoporosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0000939	HP:0040161	Localized osteoporosis	1	HSPG2 CL E G H	3339	255800	Schwartz Jampel syndrome type 1	255800	C0036391	OMIM	1	1830	5273	142461
HP:0000939	HP:0040160	Generalized osteoporosis	1	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	892	18873	606951
HP:0000939	HP:0040161	Localized osteoporosis	1	IFIH1 CL E G H	64135	182250	Singleton-Merten syndrome 1	182250	C4225427	OMIM	1	892	18873	606951
HP:0000939	HP:0040160	Generalized osteoporosis	1	IFT122 CL E G H	55764	1515				ORPHA	1	462	13556	606045
HP:0000939	HP:0040161	Localized osteoporosis	1	IFT122 CL E G H	55764	1515				ORPHA	1	462	13556	606045
HP:0000939	HP:0040160	Generalized osteoporosis	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0000939	HP:0040161	Localized osteoporosis	1	IFT122 CL E G H	55764	218330	Cranioectodermal dysplasia 1	218330	C0432235	OMIM	1	462	13556	606045
HP:0000939	HP:0040161	Localized osteoporosis	1	IFT43 CL E G H	112752	1515				ORPHA	1	199	29669	614068
HP:0000939	HP:0040160	Generalized osteoporosis	1	IFT43 CL E G H	112752	1515				ORPHA	1	199	29669	614068
HP:0000939	HP:0040160	Generalized osteoporosis	1	IFT52 CL E G H	51098	1515				ORPHA	1	112	15901	617094
HP:0000939	HP:0040161	Localized osteoporosis	1	IFT52 CL E G H	51098	1515				ORPHA	1	112	15901	617094
HP:0000939	HP:0040161	Localized osteoporosis	1	IGF1 CL E G H	3479	73272				ORPHA	1	183	5464	147440
HP:0000939	HP:0040160	Generalized osteoporosis	1	IGF1 CL E G H	3479	73272				ORPHA	1	183	5464	147440
HP:0000939	HP:0040160	Generalized osteoporosis	1	KCNJ8 CL E G H	3764	1517				ORPHA	1	173	6269	600935
HP:0000939	HP:0040161	Localized osteoporosis	1	KCNJ8 CL E G H	3764	1517				ORPHA	1	173	6269	600935
HP:0000939	HP:0040161	Localized osteoporosis	1	KISS1 CL E G H	3814	432	Arbovirosis			ORPHA	1	44	6341	603286
HP:0000939	HP:0040160	Generalized osteoporosis	1	KISS1 CL E G H	3814	432	Arbovirosis			ORPHA	1	44	6341	603286
HP:0000939	HP:0040160	Generalized osteoporosis	1	KISS1R CL E G H	84634	432	Arbovirosis			ORPHA	1	119	4510	604161
HP:0000939	HP:0040161	Localized osteoporosis	1	KISS1R CL E G H	84634	432	Arbovirosis			ORPHA	1	119	4510	604161
HP:0000939	HP:0040161	Localized osteoporosis	1	LIFR CL E G H	3977	3206				ORPHA	1	721	6597	151443
HP:0000939	HP:0040160	Generalized osteoporosis	1	LIFR CL E G H	3977	3206				ORPHA	1	721	6597	151443
HP:0000939	HP:0040160	Generalized osteoporosis	1	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	721	6597	151443
HP:0000939	HP:0040161	Localized osteoporosis	1	LIFR CL E G H	3977	601559	Stuve-Wiedemann syndrome	601559	C0796176	OMIM	1	721	6597	151443
HP:0000939	HP:0040160	Generalized osteoporosis	1	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0000939	HP:0040161	Localized osteoporosis	1	LMNA CL E G H	4000	79474				ORPHA	1	1622	6636	150330
HP:0000939	HP:0040161	Localized osteoporosis	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1622	6636	150330
HP:0000939	HP:0040160	Generalized osteoporosis	1	LMNA CL E G H	4000	740	Aortic arch interruption			ORPHA	1	1622	6636	150330
HP:0000939	HP:0040161	Localized osteoporosis	1	LRP5 CL E G H	4041	2788				ORPHA	1	1354	6697	603506
HP:0000939	HP:0040160	Generalized osteoporosis	1	LRP5 CL E G H	4041	2788				ORPHA	1	1354	6697	603506
HP:0000939	HP:0040160	Generalized osteoporosis	1	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1354	6697	603506
HP:0000939	HP:0040161	Localized osteoporosis	1	LRP5 CL E G H	4041	259770	Osteoporosis with pseudoglioma	259770	C0432252	OMIM	1	1354	6697	603506
HP:0000939	HP:0040160	Generalized osteoporosis	1	MAP3K1 CL E G H	4214	251510				ORPHA	1	184	6848	600982
HP:0000939	HP:0040161	Localized osteoporosis	1	MAP3K1 CL E G H	4214	251510				ORPHA	1	184	6848	600982
HP:0000939	HP:0040160	Generalized osteoporosis	1	MEN1 CL E G H	4221	2965				ORPHA	1	1906	7010	613733
HP:0000939	HP:0040161	Localized osteoporosis	1	MEN1 CL E G H	4221	2965				ORPHA	1	1906	7010	613733
HP:0000939	HP:0040160	Generalized osteoporosis	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	206	12744	605678
HP:0000939	HP:0040161	Localized osteoporosis	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	1	206	12744	605678
HP:0000939	HP:0040161	Localized osteoporosis	1	MMP1 CL E G H	4312	79408				ORPHA	1	72	7155	120353
HP:0000939	HP:0040160	Generalized osteoporosis	1	MMP1 CL E G H	4312	79408				ORPHA	1	72	7155	120353
HP:0000939	HP:0040160	Generalized osteoporosis	1	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000939	HP:0040161	Localized osteoporosis	1	MMP2 CL E G H	4313	259600	Multicentric osteolysis, nodulosis and arthropathy	259600	C1850155	OMIM	1	271	7166	120360
HP:0000939	HP:0040160	Generalized osteoporosis	1	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	153	14377	606470
HP:0000939	HP:0040161	Localized osteoporosis	1	NHP2 CL E G H	55651	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	153	14377	606470
HP:0000939	HP:0040160	Generalized osteoporosis	1	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	89	14378	606471
HP:0000939	HP:0040161	Localized osteoporosis	1	NOP10 CL E G H	55505	224230	Dyskeratosis congenita autosomal recessive 1	224230	C1857144	OMIM	1	89	14378	606471
HP:0000939	HP:0040160	Generalized osteoporosis	1	NOTCH2 CL E G H	4853	955				ORPHA	1	750	7882	600275
HP:0000939	HP:0040161	Localized osteoporosis	1	NOTCH2 CL E G H	4853	955				ORPHA	1	750	7882	600275
HP:0000939	HP:0040160	Generalized osteoporosis	1	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	750	7882	600275
HP:0000939	HP:0040161	Localized osteoporosis	1	NOTCH2 CL E G H	4853	102500	Hajdu-Cheney syndrome	102500	C0917715	OMIM	1	750	7882	600275
HP:0000939	HP:0040160	Generalized osteoporosis	1	NR0B1 CL E G H	190	251510				ORPHA	1	306	7960	300473
HP:0000939	HP:0040161	Localized osteoporosis	1	NR0B1 CL E G H	190	251510				ORPHA	1	306	7960	300473
HP:0000939	HP:0040160	Generalized osteoporosis	1	NR5A1 CL E G H	2516	251510				ORPHA	1	205	7983	184757
HP:0000939	HP:0040161	Localized osteoporosis	1	NR5A1 CL E G H	2516	251510				ORPHA	1	205	7983	184757
HP:0000939	HP:0040161	Localized osteoporosis	1	NSMF CL E G H	26012	432	Arbovirosis			ORPHA	1	145	29843	608137
HP:0000939	HP:0040160	Generalized osteoporosis	1	NSMF CL E G H	26012	432	Arbovirosis			ORPHA	1	145	29843	608137
HP:0000939	HP:0040161	Localized osteoporosis	1	NSMF CL E G H	26012	614838	Hypogonadotropic hypogonadism 9 with or without anosmia	614838	C3553842	OMIM	1	145	29843	608137
HP:0000939	HP:0040160	Generalized osteoporosis	1	NSMF CL E G H	26012	614838	Hypogonadotropic hypogonadism 9 with or without anosmia	614838	C3553842	OMIM	1	145	29843	608137
HP:0000939	HP:0040160	Generalized osteoporosis	1	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	908	8653	232000
HP:0000939	HP:0040161	Localized osteoporosis	1	PCCA CL E G H	5095	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	908	8653	232000
HP:0000939	HP:0040160	Generalized osteoporosis	1	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	734	8654	232050
HP:0000939	HP:0040161	Localized osteoporosis	1	PCCB CL E G H	5096	606054	Propionyl-CoA carboxylase deficiency	606054	C0268579	OMIM	1	734	8654	232050
HP:0000939	HP:0040160	Generalized osteoporosis	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	150	8773	604961
HP:0000939	HP:0040161	Localized osteoporosis	1	PDE11A CL E G H	50940	610475	Pigmented nodular adrenocortical disease, primary, 2	610475	C1864851	OMIM	1	150	8773	604961
HP:0000939	HP:0040160	Generalized osteoporosis	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	150	8773	604961
HP:0000939	HP:0040161	Localized osteoporosis	1	PDE11A CL E G H	50940	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	150	8773	604961
HP:0000939	HP:0040160	Generalized osteoporosis	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	179	8794	603390
HP:0000939	HP:0040161	Localized osteoporosis	1	PDE8B CL E G H	8622	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	179	8794	603390
HP:0000939	HP:0040160	Generalized osteoporosis	1	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	360	8854	601758
HP:0000939	HP:0040161	Localized osteoporosis	1	PEX12 CL E G H	5193	266510	Infantile Refsum's disease	266510	C0282527	OMIM	1	360	8854	601758
HP:0000939	HP:0040161	Localized osteoporosis	1	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0000939	HP:0040160	Generalized osteoporosis	1	PIGT CL E G H	51604	615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	615398	C3809356	OMIM	1	161	14938	610272
HP:0000939	HP:0040160	Generalized osteoporosis	1	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	794	9081	153454
HP:0000939	HP:0040161	Localized osteoporosis	1	PLOD1 CL E G H	5351	225400	Ehlers-Danlos syndrome, hydroxylysine-deficient	225400	C0268342	OMIM	1	794	9081	153454
HP:0000939	HP:0040160	Generalized osteoporosis	1	PLOD2 CL E G H	5352	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	305	9082	601865
HP:0000939	HP:0040161	Localized osteoporosis	1	PLOD2 CL E G H	5352	2771	Hydrocephalus costovertebral dysplasia Sprengel anomaly			ORPHA	1	305	9082	601865
HP:0000939	HP:0040160	Generalized osteoporosis	1	PLS3 CL E G H	5358	300910	Bone mineral density quantitative trait locus 18	300910	C3806712	OMIM	1	282	9091	300131
HP:0000939	HP:0040161	Localized osteoporosis	1	PLS3 CL E G H	5358	300910	Bone mineral density quantitative trait locus 18	300910	C3806712	OMIM	1	282	9091	300131
HP:0000939	HP:0040160	Generalized osteoporosis	1	POF1B CL E G H	79983	300604	Premature ovarian failure 2b	300604	C1845105	OMIM	1	218	13711	300603
HP:0000939	HP:0040161	Localized osteoporosis	1	POF1B CL E G H	79983	300604	Premature ovarian failure 2b	300604	C1845105	OMIM	1	218	13711	300603
HP:0000939	HP:0040160	Generalized osteoporosis	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0000939	HP:0040161	Localized osteoporosis	1	POLD1 CL E G H	5424	615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	615381	C3715192	OMIM	1	3858	9175	174761
HP:0000939	HP:0040160	Generalized osteoporosis	1	POR CL E G H	5447	95699				ORPHA	1	402	9208	124015
HP:0000939	HP:0040161	Localized osteoporosis	1	POR CL E G H	5447	95699				ORPHA	1	402	9208	124015
HP:0000939	HP:0040161	Localized osteoporosis	1	PRDM5 CL E G H	11107	90354				ORPHA	1	347	9349	614161
HP:0000939	HP:0040160	Generalized osteoporosis	1	PRDM5 CL E G H	11107	90354				ORPHA	1	347	9349	614161
HP:0000939	HP:0040161	Localized osteoporosis	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	32	9380	601639
HP:0000939	HP:0040160	Generalized osteoporosis	1	PRKACA CL E G H	5566	615830	Pigmented nodular adrenocortical disease, primary, 4	615830	C4014425	OMIM	1	32	9380	601639
HP:0000939	HP:0040160	Generalized osteoporosis	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	32	9380	601639
HP:0000939	HP:0040161	Localized osteoporosis	1	PRKACA CL E G H	5566	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	32	9380	601639
HP:0000939	HP:0040160	Generalized osteoporosis	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	916	9388	188830
HP:0000939	HP:0040161	Localized osteoporosis	1	PRKAR1A CL E G H	5573	610489	Pigmented nodular adrenocortical disease, primary, 1	610489	C1864846	OMIM	1	916	9388	188830
HP:0000939	HP:0040160	Generalized osteoporosis	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	916	9388	188830
HP:0000939	HP:0040161	Localized osteoporosis	1	PRKAR1A CL E G H	5573	189439	Primary pigmented nodular adrenocortical disease		CN200645	ORPHA	1	916	9388	188830
HP:0000939	HP:0040160	Generalized osteoporosis	1	PROK2 CL E G H	60675	432	Arbovirosis			ORPHA	1	55	18455	607002
HP:0000939	HP:0040161	Localized osteoporosis	1	PROK2 CL E G H	60675	432	Arbovirosis			ORPHA	1	55	18455	607002
HP:0000939	HP:0040161	Localized osteoporosis	1	PROKR2 CL E G H	128674	432	Arbovirosis			ORPHA	1	132	15836	607123
HP:0000939	HP:0040160	Generalized osteoporosis	1	PROKR2 CL E G H	128674	432	Arbovirosis			ORPHA	1	132	15836	607123
HP:0000939	HP:0040161	Localized osteoporosis	1	PYCR1 CL E G H	5831	2078				ORPHA	1	208	9721	179035
HP:0000939	HP:0040160	Generalized osteoporosis	1	PYCR1 CL E G H	5831	2078				ORPHA	1	208	9721	179035
HP:0000939	HP:0040160	Generalized osteoporosis	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	317	17063	602536
HP:0000939	HP:0040161	Localized osteoporosis	1	RAB3GAP1 CL E G H	22930	600118	Warburg micro syndrome 1	600118	C1838625	OMIM	1	317	17063	602536
HP:0000939	HP:0040160	Generalized osteoporosis	1	RECQL4 CL E G H	9401	268400	Rothmund-Thomson syndrome	268400	C0032339	OMIM	1	3666	9949	603780
HP:0000939	HP:0040161	Localized osteoporosis	1	RECQL4 CL E G H	9401	268400	Rothmund-Thomson syndrome	268400	C0032339	OMIM	1	3666	9949	603780
HP:0000939	HP:0040160	Generalized osteoporosis	1	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0000939	HP:0040161	Localized osteoporosis	1	RNU4ATAC CL E G H	100151683	2636	Hemihypertrophy intestinal web corneal opacity			ORPHA	1	214	34016	601428
HP:0000939	HP:0040160	Generalized osteoporosis	1	RPL11 CL E G H	6135	612562	Diamond-Blackfan anemia 7	612562	C2675512	OMIM	1	125	10301	604175
HP:0000939	HP:0040161	Localized osteoporosis	1	RPL11 CL E G H	6135	612562	Diamond-Blackfan anemia 7	612562	C2675512	OMIM	1	125	10301	604175
HP:0000939	HP:0040161	Localized osteoporosis	1	RUNX2 CL E G H	860	1452				ORPHA	1	373	10472	600211
HP:0000939	HP:0040160	Generalized osteoporosis	1	RUNX2 CL E G H	860	1452				ORPHA	1	373	10472	600211
HP:0000939	HP:0040160	Generalized osteoporosis	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	428	29242	613293
HP:0000939	HP:0040161	Localized osteoporosis	1	SH3PXD2B CL E G H	285590	249420	Frank Ter Haar syndrome	249420	C1855305	OMIM	1	428	29242	613293
HP:0000939	HP:0040160	Generalized osteoporosis	1	SLC25A19 CL E G H	60386	99742				ORPHA	1	136	14409	606521
HP:0000939	HP:0040161	Localized osteoporosis	1	SLC25A19 CL E G H	60386	99742				ORPHA	1	136	14409	606521
HP:0000939	HP:0040160	Generalized osteoporosis	1	SLC34A1 CL E G H	6569	612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	612286	C2676786	OMIM	1	334	11019	182309
HP:0000939	HP:0040161	Localized osteoporosis	1	SLC34A1 CL E G H	6569	612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	612286	C2676786	OMIM	1	334	11019	182309
HP:0000939	HP:0040160	Generalized osteoporosis	1	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	819	4061	602671
HP:0000939	HP:0040161	Localized osteoporosis	1	SLC37A4 CL E G H	2542	232220	Glucose-6-phosphate transport defect	232220	C0268146	OMIM	1	819	4061	602671
HP:0000939	HP:0040160	Generalized osteoporosis	1	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	528	11065	603593
HP:0000939	HP:0040161	Localized osteoporosis	1	SLC7A7 CL E G H	9056	222700	Lysinuric protein intolerance	222700	C0268647	OMIM	1	528	11065	603593
HP:0000939	HP:0040161	Localized osteoporosis	1	SLC9A3R1 CL E G H	9368	612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	612287	C2676782	OMIM	1	62	11075	604990
HP:0000939	HP:0040160	Generalized osteoporosis	1	SLC9A3R1 CL E G H	9368	612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	612287	C2676782	OMIM	1	62	11075	604990
HP:0000939	HP:0040160	Generalized osteoporosis	1	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	747	11120	607608
HP:0000939	HP:0040161	Localized osteoporosis	1	SMPD1 CL E G H	6609	257200	Niemann-Pick disease, type A	257200	C0268242	OMIM	1	747	11120	607608
HP:0000939	HP:0040160	Generalized osteoporosis	1	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	264	11123	300105
HP:0000939	HP:0040161	Localized osteoporosis	1	SMS CL E G H	6611	309583	Snyder Robinson syndrome	309583	C0796160	OMIM	1	264	11123	300105
HP:0000939	HP:0040160	Generalized osteoporosis	1	SOX9 CL E G H	6662	251510				ORPHA	1	280	11204	608160
HP:0000939	HP:0040161	Localized osteoporosis	1	SOX9 CL E G H	6662	251510				ORPHA	1	280	11204	608160
HP:0000939	HP:0040161	Localized osteoporosis	1	SPARC CL E G H	6678	616507	Osteogenesis imperfecta, type xvii	616507	C4225301	OMIM	1	106	11219	182120
HP:0000939	HP:0040160	Generalized osteoporosis	1	SPARC CL E G H	6678	616507	Osteogenesis imperfecta, type xvii	616507	C4225301	OMIM	1	106	11219	182120
HP:0000939	HP:0040160	Generalized osteoporosis	1	SPRY4 CL E G H	81848	432	Arbovirosis			ORPHA	1	45	15533	607984
HP:0000939	HP:0040161	Localized osteoporosis	1	SPRY4 CL E G H	81848	432	Arbovirosis			ORPHA	1	45	15533	607984
HP:0000939	HP:0040160	Generalized osteoporosis	1	SRY CL E G H	6736	251510				ORPHA	1	113	11311	480000
HP:0000939	HP:0040161	Localized osteoporosis	1	SRY CL E G H	6736	251510				ORPHA	1	113	11311	480000
HP:0000939	HP:0040161	Localized osteoporosis	1	TAC3 CL E G H	6866	432	Arbovirosis			ORPHA	1	22	11521	162330
HP:0000939	HP:0040160	Generalized osteoporosis	1	TAC3 CL E G H	6866	432	Arbovirosis			ORPHA	1	22	11521	162330
HP:0000939	HP:0040160	Generalized osteoporosis	1	TACR3 CL E G H	6870	432	Arbovirosis			ORPHA	1	111	11528	162332
HP:0000939	HP:0040161	Localized osteoporosis	1	TACR3 CL E G H	6870	432	Arbovirosis			ORPHA	1	111	11528	162332
HP:0000939	HP:0040160	Generalized osteoporosis	1	TERC CL E G H	7012	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	293	11727	602322
HP:0000939	HP:0040161	Localized osteoporosis	1	TERC CL E G H	7012	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	293	11727	602322
HP:0000939	HP:0040160	Generalized osteoporosis	1	TERT CL E G H	7015	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	2449	11730	187270
HP:0000939	HP:0040161	Localized osteoporosis	1	TERT CL E G H	7015	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	2449	11730	187270
HP:0000939	HP:0040160	Generalized osteoporosis	1	TINF2 CL E G H	26277	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	330	11824	604319
HP:0000939	HP:0040161	Localized osteoporosis	1	TINF2 CL E G H	26277	127550	Dyskeratosis congenita autosomal dominant	127550	C1851970	OMIM	1	330	11824	604319
HP:0000939	HP:0040160	Generalized osteoporosis	1	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	330	11824	604319
HP:0000939	HP:0040161	Localized osteoporosis	1	TINF2 CL E G H	26277	613990	Dyskeratosis congenita, autosomal dominant, 3	613990	C3151445	OMIM	1	330	11824	604319
HP:0000939	HP:0040160	Generalized osteoporosis	1	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	122	30760	614726
HP:0000939	HP:0040161	Localized osteoporosis	1	TMEM165 CL E G H	55858	614727	Congenital disorder of glycosylation type 2k	614727	C3553571	OMIM	1	122	30760	614726
HP:0000939	HP:0040160	Generalized osteoporosis	1	TNFRSF11A CL E G H	8792	2801				ORPHA	1	420	11908	603499
HP:0000939	HP:0040161	Localized osteoporosis	1	TNFRSF11A CL E G H	8792	2801				ORPHA	1	420	11908	603499
HP:0000939	HP:0040161	Localized osteoporosis	1	TNFRSF11B CL E G H	4982	2801				ORPHA	1	168	11909	602643
HP:0000939	HP:0040160	Generalized osteoporosis	1	TNFRSF11B CL E G H	4982	2801				ORPHA	1	168	11909	602643
HP:0000939	HP:0040160	Generalized osteoporosis	1	TNFRSF11B CL E G H	4982	239000	Hyperphosphatasemia with bone disease	239000	C0268414	OMIM	1	168	11909	602643
HP:0000939	HP:0040161	Localized osteoporosis	1	TNFRSF11B CL E G H	4982	239000	Hyperphosphatasemia with bone disease	239000	C0268414	OMIM	1	168	11909	602643
HP:0000939	HP:0040160	Generalized osteoporosis	1	TRIP11 CL E G H	9321	184260	Goldblatt hypertension	184260	C0018036	OMIM	1	608	12305	604505
HP:0000939	HP:0040161	Localized osteoporosis	1	TRIP11 CL E G H	9321	184260	Goldblatt hypertension	184260	C0018036	OMIM	1	608	12305	604505
HP:0000939	HP:0040160	Generalized osteoporosis	1	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HP:0000939	HP:0040161	Localized osteoporosis	1	USP8 CL E G H	9101	96253				ORPHA	1	134	12631	603158
HP:0000939	HP:0040160	Generalized osteoporosis	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	134	12631	603158
HP:0000939	HP:0040161	Localized osteoporosis	1	USP8 CL E G H	9101	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	134	12631	603158
HP:0000939	HP:0040160	Generalized osteoporosis	1	VAMP7 CL E G H	6845	251510				ORPHA	1	124	11486	300053
HP:0000939	HP:0040161	Localized osteoporosis	1	VAMP7 CL E G H	6845	251510				ORPHA	1	124	11486	300053
HP:0000939	HP:0040160	Generalized osteoporosis	1	VDR CL E G H	7421	166710	Postmenopausal osteoporosis	166710	C0029458	OMIM	1	269	12679	601769
HP:0000939	HP:0040161	Localized osteoporosis	1	VDR CL E G H	7421	166710	Postmenopausal osteoporosis	166710	C0029458	OMIM	1	269	12679	601769
HP:0000939	HP:0040160	Generalized osteoporosis	1	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	315	25608	615850
HP:0000939	HP:0040161	Localized osteoporosis	1	VPS53 CL E G H	55275	615851	Pontocerebellar hypoplasia, type 2e	615851	C4014488	OMIM	1	315	25608	615850
HP:0000939	HP:0040161	Localized osteoporosis	1	WDR11 CL E G H	55717	432	Arbovirosis			ORPHA	1	293	13831	606417
HP:0000939	HP:0040160	Generalized osteoporosis	1	WDR11 CL E G H	55717	432	Arbovirosis			ORPHA	1	293	13831	606417
HP:0000939	HP:0040161	Localized osteoporosis	1	WDR19 CL E G H	57728	1515				ORPHA	1	749	18340	608151
HP:0000939	HP:0040160	Generalized osteoporosis	1	WDR19 CL E G H	57728	1515				ORPHA	1	749	18340	608151
HP:0000939	HP:0040160	Generalized osteoporosis	1	WDR35 CL E G H	57539	1515				ORPHA	1	523	29250	613602
HP:0000939	HP:0040161	Localized osteoporosis	1	WDR35 CL E G H	57539	1515				ORPHA	1	523	29250	613602
HP:0000939	HP:0040160	Generalized osteoporosis	1	WNT1 CL E G H	7471	85193				ORPHA	1	115	12774	164820
HP:0000939	HP:0040161	Localized osteoporosis	1	WNT1 CL E G H	7471	85193				ORPHA	1	115	12774	164820
HP:0000939	HP:0040161	Localized osteoporosis	1	WNT3A CL E G H	89780	85193				ORPHA	1	80	15983	606359
HP:0000939	HP:0040160	Generalized osteoporosis	1	WNT3A CL E G H	89780	85193				ORPHA	1	80	15983	606359
HP:0000939	HP:0040161	Localized osteoporosis	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	1	2665	12791	604611
HP:0000939	HP:0040160	Generalized osteoporosis	1	WRN CL E G H	7486	902	Blepharo naso facial syndrome Van maldergem type			ORPHA	1	2665	12791	604611
HP:0000939	HP:0040160	Generalized osteoporosis	1	WRN CL E G H	7486	277700	Werner syndrome	277700	C0043119	OMIM	1	2665	12791	604611
HP:0000939	HP:0040161	Localized osteoporosis	1	WRN CL E G H	7486	277700	Werner syndrome	277700	C0043119	OMIM	1	2665	12791	604611
HP:0000939	HP:0040160	Generalized osteoporosis	1	WT1 CL E G H	7490	251510				ORPHA	1	1146	12796	607102
HP:0000939	HP:0040161	Localized osteoporosis	1	WT1 CL E G H	7490	251510				ORPHA	1	1146	12796	607102
HP:0000939	HP:0040160	Generalized osteoporosis	1	WWOX CL E G H	51741	251510				ORPHA	1	967	12799	605131
HP:0000939	HP:0040161	Localized osteoporosis	1	WWOX CL E G H	51741	251510				ORPHA	1	967	12799	605131
HP:0000939	HP:0040160	Generalized osteoporosis	1	XYLT2 CL E G H	64132	85194				ORPHA	1	190	15517	608125
HP:0000939	HP:0040161	Localized osteoporosis	1	XYLT2 CL E G H	64132	85194				ORPHA	1	190	15517	608125
HP:0000939	HP:0040160	Generalized osteoporosis	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	168	13503	606025
HP:0000939	HP:0040161	Localized osteoporosis	1	ZBTB20 CL E G H	26137	259050	Primrose syndrome	259050	C0796121	OMIM	1	168	13503	606025
HP:0000939	HP:0040160	Generalized osteoporosis	1	ZFPM2 CL E G H	23414	251510				ORPHA	1	241	16700	603693
HP:0000939	HP:0040161	Localized osteoporosis	1	ZFPM2 CL E G H	23414	251510				ORPHA	1	241	16700	603693
HP:0000939	HP:0040160	Generalized osteoporosis	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	176	12877	606480
HP:0000939	HP:0040161	Localized osteoporosis	1	ZMPSTE24 CL E G H	10269	740	Aortic arch interruption			ORPHA	1	176	12877	606480
HP:0000939	HP:0040160	Generalized osteoporosis	1	ZNF469 CL E G H	84627	90354				ORPHA	1	2415	23216	612078
HP:0000939	HP:0040161	Localized osteoporosis	1	ZNF469 CL E G H	84627	90354				ORPHA	1	2415	23216	612078
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ABCC9 CL E G H	10060	1517				ORPHA	1	1266	60	601439
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ABCC9 CL E G H	10060	239850	Hypertrichotic osteochondrodysplasia	239850	C0795905	OMIM	1	1266	60	601439
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ADAMTS2 CL E G H	9509	1901				ORPHA	1	1221	218	604539
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	AEBP1 CL E G H	165	618000	EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2	618000	CN248508	OMIM	1	230	303	602981
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	AIP CL E G H	9049	2965				ORPHA	1	741	358	605555
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	AIP CL E G H	9049	2965				ORPHA	1	741	358	605555
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	AIP CL E G H	9049	2965				ORPHA	1	741	358	605555
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	AIP CL E G H	9049	219090	Pituitary dependent hypercortisolism	219090	C0221406	OMIM	1	741	358	605555
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ALB CL E G H	213	616000	Analbuminemia	616000	C0878666	OMIM	1	164	399	103600
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	426	6211	300836
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	426	6211	300836
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ANOS1 CL E G H	3730	432	Arbovirosis			ORPHA	1	426	6211	300836
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	264	21732	608041
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	264	21732	608041
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ANTXR2 CL E G H	118429	2176	Epimetaphyseal skeletal dysplasia			ORPHA	1	264	21732	608041
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ANTXR2 CL E G H	118429	228600	Hyaline fibromatosis syndrome	228600	C2745948	OMIM	1	264	21732	608041
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	AR CL E G H	367	99429				ORPHA	1	556	644	313700
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	AR CL E G H	367	99429				ORPHA	1	556	644	313700
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	AR CL E G H	367	99429				ORPHA	1	556	644	313700
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ARMC5 CL E G H	79798	189427				ORPHA	1	100	25781	615549
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ARMC5 CL E G H	79798	189427				ORPHA	1	100	25781	615549
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ARMC5 CL E G H	79798	189427				ORPHA	1	100	25781	615549
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ARMC5 CL E G H	79798	615954	Acth-independent macronodular adrenal hyperplasia 2	615954	C4014803	OMIM	1	100	25781	615549
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ASAH1 CL E G H	427	333				ORPHA	1	712	735	613468
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ATP7A CL E G H	538	198				ORPHA	1	1283	869	300011
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ATP7A CL E G H	538	198				ORPHA	1	1283	869	300011
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ATP7A CL E G H	538	198				ORPHA	1	1283	869	300011
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ATP7A CL E G H	538	304150	Cutis laxa, X-linked	304150	C0268353	OMIM	1	1283	869	300011
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1283	869	300011
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1283	869	300011
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ATP7A CL E G H	538	309400	Menkes kinky-hair syndrome	309400	C0022716	OMIM	1	1283	869	300011
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ATP7B CL E G H	540	277900	Wilson disease	277900	C0019202	OMIM	1	1806	870	606882
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	B3GALT6 CL E G H	126792	271640	Spondyloepimetaphyseal dysplasia with joint laxity	271640	C0432243	OMIM	1	366	17978	615291
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	154	923	606374
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	154	923	606374
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	B3GAT3 CL E G H	26229	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	154	923	606374
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	BANF1 CL E G H	8815	614008	Nestor-Guillermo progeria syndrome	614008	C3151446	OMIM	1	47	17397	603811
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	239	19721	613165
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	239	19721	613165
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CANT1 CL E G H	124583	251450	Desbuquois dysplasia 1	251450	C4012146	OMIM	1	239	19721	613165
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CAVIN1 CL E G H	284119	613327	Lipodystrophy, congenital generalized, type 4	613327	C2750069	OMIM	1	112	9688	603198
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CBS CL E G H	875	394				ORPHA	1	967	1550	613381
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CBS CL E G H	875	394				ORPHA	1	967	1550	613381
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CBS CL E G H	875	394				ORPHA	1	967	1550	613381
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CBS CL E G H	875	236200	Homocystinuria due to CBS deficiency	236200	C3150344	OMIM	1	967	1550	613381
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	122	12771	603400
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	122	12771	603400
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CCN6 CL E G H	8838	208230	Progressive pseudorheumatoid dysplasia	208230	C0432215	OMIM	1	122	12771	603400
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CDC73 CL E G H	79577	143				ORPHA	1	1148	16783	607393
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CDC73 CL E G H	79577	143				ORPHA	1	1148	16783	607393
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CDC73 CL E G H	79577	99880				ORPHA	1	1148	16783	607393
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CDC73 CL E G H	79577	143				ORPHA	1	1148	16783	607393
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CDC73 CL E G H	79577	99880				ORPHA	1	1148	16783	607393
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CDC73 CL E G H	79577	99880				ORPHA	1	1148	16783	607393
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CDH23 CL E G H	64072	2965				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CDH23 CL E G H	64072	91347				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CDH23 CL E G H	64072	2965				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CDH23 CL E G H	64072	91347				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CDH23 CL E G H	64072	2965				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CDH23 CL E G H	64072	96253				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CDH23 CL E G H	64072	91347				ORPHA	1	3604	13733	605516
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2318	20626	608892
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2318	20626	608892
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CHD7 CL E G H	55636	432	Arbovirosis			ORPHA	1	2318	20626	608892
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	352	1971	603799
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	352	1971	603799
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CHST3 CL E G H	9469	245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects	245600	C3278404	OMIM	1	352	1971	603799
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	COL7A1 CL E G H	1294	79408				ORPHA	1	2616	2214	120120
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	COL7A1 CL E G H	1294	79408				ORPHA	1	2616	2214	120120
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	COL7A1 CL E G H	1294	79408				ORPHA	1	2616	2214	120120
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CTC1 CL E G H	80169	612199	Cerebroretinal microangiopathy with calcifications and cysts 1	612199	C2677299	OMIM	1	1044	26169	613129
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CTDP1 CL E G H	9150	48431				ORPHA	1	383	2498	604927
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYB5A CL E G H	1528	90796				ORPHA	1	162	2570	613218
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYB5A CL E G H	1528	90796				ORPHA	1	162	2570	613218
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYB5A CL E G H	1528	90796				ORPHA	1	162	2570	613218
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP11A1 CL E G H	1583	168558				ORPHA	1	125	2590	118485
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP11A1 CL E G H	1583	168558				ORPHA	1	125	2590	118485
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP11A1 CL E G H	1583	289548				ORPHA	1	125	2590	118485
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP11A1 CL E G H	1583	289548				ORPHA	1	125	2590	118485
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP11A1 CL E G H	1583	289548				ORPHA	1	125	2590	118485
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP11A1 CL E G H	1583	168558				ORPHA	1	125	2590	118485
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP11B1 CL E G H	1584	90795				ORPHA	1	582	2591	610613
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP11B1 CL E G H	1584	90795				ORPHA	1	582	2591	610613
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP11B1 CL E G H	1584	90795				ORPHA	1	582	2591	610613
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP17A1 CL E G H	1586	90793				ORPHA	1	311	2593	609300
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP17A1 CL E G H	1586	90796				ORPHA	1	311	2593	609300
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP17A1 CL E G H	1586	90796				ORPHA	1	311	2593	609300
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP17A1 CL E G H	1586	90793				ORPHA	1	311	2593	609300
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP17A1 CL E G H	1586	90796				ORPHA	1	311	2593	609300
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP17A1 CL E G H	1586	90793				ORPHA	1	311	2593	609300
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	341	2594	107910
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	341	2594	107910
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP19A1 CL E G H	1588	91	Malignant melanoma, childhood			ORPHA	1	341	2594	107910
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	CYP27A1 CL E G H	1593	213700	Cholestanol storage disease	213700	C0238052	OMIM	1	751	2605	606530
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	DKC1 CL E G H	1736	305000	Dyskeratosis congenita X-linked	305000	C1148551	OMIM	1	477	2890	300126
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	DKK1 CL E G H	22943	85193				ORPHA	1	24	2891	605189
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	DKK1 CL E G H	22943	85193				ORPHA	1	24	2891	605189
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	DKK1 CL E G H	22943	85193				ORPHA	1	24	2891	605189
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	DMRT3 CL E G H	58524	251510				ORPHA	1	210	13909	614754
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	DMRT3 CL E G H	58524	251510				ORPHA	1	210	13909	614754
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	DMRT3 CL E G H	58524	251510				ORPHA	1	210	13909	614754
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	51	3072	602748
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	51	3072	602748
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	DUSP6 CL E G H	1848	432	Arbovirosis			ORPHA	1	51	3072	602748
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	EIF2AK3 CL E G H	9451	1667	Dandy-Walker malformation with facial hemangioma			ORPHA	1	359	3255	604032
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	EIF2AK3 CL E G H	9451	226980	Wolcott-Rallison dysplasia	226980	C0432217	OMIM	1	359	3255	604032
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	1	763	3327	130160
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ERCC6 CL E G H	2074	214150	Cerebro-oculo-facio-skeletal syndrome	214150	C0220722	OMIM	1	1170	3438	609413
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ERCC6 CL E G H	2074	133540	Cockayne syndrome B	133540	C0751038	OMIM	1	1170	3438	609413
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	ESR1 CL E G H	2099	785	Arthrogryposis multiplex congenita CNS calcification			ORPHA	1	191	3467	133430
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	ESR1 CL E G H	2099	785	Arthrogryposis multiplex congenita CNS calcification			ORPHA	1	191	3467	133430
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	ESR1 CL E G H	2099	785	Arthrogryposis multiplex congenita CNS calcification			ORPHA	1	191	3467	133430
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	100	3673	603725
HP:0000939	HP:0005897	Severe generalized osteoporosis	2	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	100	3673	603725
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	FGF17 CL E G H	8822	432	Arbovirosis			ORPHA	1	100	3673	603725
HP:0000939	HP:0005653	Moderate generalized osteoporosis	2	FGF8 CL E G H	2253	432	Arbovirosis			ORPHA	1	77	3686	600483
HP:0000939	HP:0005625	Osteoporosis of vertebrae	2	FGF8 CL E G H	2253	432	Arbovirosis			ORPHA	1	77	3686	600483
HP:0000939	HP:0005897	Severe generalized osteoporosis	2