Human Phenotype Ontology

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:0002659	HP:0002659	Increased susceptibility to fractures	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy		96
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy		96
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA		76
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.	126
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia		304
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.	304
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome		65
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		7
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis		145
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	145
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		71
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease		192
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease		315
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis		8
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	38
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	276
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis		29
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe		272
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism		272
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis		317
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria		242
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma		1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome		515
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma		833
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	74
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	88
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.	68
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1		112
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive		112
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis		102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis		102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2		102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4		102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability		6
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.	373
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	284
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII		124
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita		160
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional	88
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p		15
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional	114
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	41
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A		41
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent	5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B		5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome		36
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita		65
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1		45
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia		133
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional	3
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1		63
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome		3
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome		17
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome		172
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FGFR1 CL E G H	2260	3688	OMIM:166250	Osteoglophonic dysplasia	.	172
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome		61
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.	61
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.	61
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare	9
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		9
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	86
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency		13
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1		45
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia		101
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome		101
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome		101
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic		101
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica		52
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		58
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent	580
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome		21
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		113
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome		8
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome		6
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V		8
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome		9
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040283 - Occasional	3
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		276
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	327
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy		28
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy		13
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy		13
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		196
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome		68
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome		144
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome		144
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy		11
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040283 - Occasional	186
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040281 - Very frequent	125
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX		22
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional	462
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma		3
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB		37
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	39
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy		745
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy		745
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent	40
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		20
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V		20
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent	32
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita		27
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita		17
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita		12
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome		102
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4		97
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5		97
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome		88
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe		88
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII		43
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PANK2 CL E G H	80025	15894	ORPHA:216866	Classic pantothenate kinase-associated neurodegeneration	HP:0040282 - Frequent	55
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita		26
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	13
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	75
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome		45
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.	45
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	58
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2		58
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent	134
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome		9
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome		34
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome		948
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica		53
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma		365
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2		445
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		54
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RIN2 CL E G H	54453	18750	ORPHA:217335	RIN2 syndrome	HP:0040283 - Occasional	43
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita		77
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis		181
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.	90
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia		90
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional	34
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1		77
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive		318
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		318
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome		5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome		14
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p		6
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SERPINF1 CL E G H	5176	8824	OMIM:613982	Osteogenesis imperfecta, type VI	.	35
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis		68
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome		68
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		47
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.	47
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent	47
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria		52
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary		52
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional	110
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant		109
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance		104
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance		104
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B		164
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type		19
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type		19
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome		61
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia		109
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome		5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		54
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1		149
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3		62
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis		1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome		110
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome		110
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome		34
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis		82
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis		82
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	82
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1		82
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita		48
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita		238
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis		3
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional	3
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TIMM8A CL E G H	1678	11817	OMIM:304700	Mohr-Tranebjaerg syndrome	.	15
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita		60
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis		72
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis		72
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease		72
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease		44
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset		44
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis		44
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2		44
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma		911
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy		108
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A		133
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism		4
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita		1
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic		41
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita		8
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome		63
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets		104
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A		104
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome		10
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II		199
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis		12
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita		40
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040281 - Very frequent	5
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional	397
HP:0002659	HP:0002659	Increased susceptibility to fractures	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0002659	HP:0005855	Multiple prenatal fractures	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	96
HP:0002659	HP:0005855	Multiple prenatal fractures	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	96
HP:0002659	HP:0002756	Pathologic fracture	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76
HP:0002659	HP:0002756	Pathologic fracture	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0002659	HP:0002757	Recurrent fractures	1	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0002659	HP:0002756	Pathologic fracture	1	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.	126
HP:0002659	HP:0002757	Recurrent fractures	1	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040283 - Occasional	304
HP:0002659	HP:0002757	Recurrent fractures	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	65
HP:0002659	HP:0002757	Recurrent fractures	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent	49
HP:0002659	HP:0005855	Multiple prenatal fractures	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0002659	HP:0002756	Pathologic fracture	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0002659	HP:0002756	Pathologic fracture	1	ATL1 CL E G H	51062	11231	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	71
HP:0002659	HP:0002756	Pathologic fracture	1	ATL3 CL E G H	25923	24526	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	5
HP:0002659	HP:0002757	Recurrent fractures	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional	192
HP:0002659	HP:0002756	Pathologic fracture	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent	315
HP:0002659	HP:0002756	Pathologic fracture	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0002659	HP:0002757	Recurrent fractures	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME		38
HP:0002659	HP:0002757	Recurrent fractures	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent	38
HP:0002659	HP:0002756	Pathologic fracture	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0002659	HP:0002757	Recurrent fractures	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		5
HP:0002659	HP:0002757	Recurrent fractures	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1		29
HP:0002659	HP:0002756	Pathologic fracture	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002659	HP:0002757	Recurrent fractures	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent	29
HP:0002659	HP:0002757	Recurrent fractures	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.	272
HP:0002659	HP:0002757	Recurrent fractures	1	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent	272
HP:0002659	HP:0002756	Pathologic fracture	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0002659	HP:0002757	Recurrent fractures	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent	242
HP:0002659	HP:0005855	Multiple prenatal fractures	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002659	HP:0002757	Recurrent fractures	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0002659	HP:0002757	Recurrent fractures	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0002659	HP:0002756	Pathologic fracture	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040281 - Very frequent	1
HP:0002659	HP:0002757	Recurrent fractures	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	515
HP:0002659	HP:0002756	Pathologic fracture	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	833
HP:0002659	HP:0002757	Recurrent fractures	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects		165
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.	112
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.	112
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent	102
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	102
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	102
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0002659	HP:0002757	Recurrent fractures	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0002659	HP:0002757	Recurrent fractures	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040282 - Frequent	6
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1		373
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.	373
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.	373
HP:0002659	HP:0005855	Multiple prenatal fractures	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA		373
HP:0002659	HP:0005855	Multiple prenatal fractures	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002659	HP:0003023	Bowing of limbs due to multiple fractures	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002659	HP:0003023	Bowing of limbs due to multiple fractures	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV	.	373
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A2 CL E G H	1278	2198	OMIM:619120	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2; OIEDS2		243
HP:0002659	HP:0005855	Multiple prenatal fractures	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA		243
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.	243
HP:0002659	HP:0003023	Bowing of limbs due to multiple fractures	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002659	HP:0005855	Multiple prenatal fractures	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002659	HP:0003023	Bowing of limbs due to multiple fractures	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0002659	HP:0002757	Recurrent fractures	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV	.	243
HP:0002659	HP:0002757	Recurrent fractures	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0002659	HP:0002757	Recurrent fractures	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI		4
HP:0002659	HP:0005855	Multiple prenatal fractures	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0002659	HP:0002757	Recurrent fractures	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.	124
HP:0002659	HP:0002756	Pathologic fracture	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0002659	HP:0002757	Recurrent fractures	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	160
HP:0002659	HP:0002757	Recurrent fractures	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	15
HP:0002659	HP:0002757	Recurrent fractures	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.	41
HP:0002659	HP:0002757	Recurrent fractures	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.	5
HP:0002659	HP:0002757	Recurrent fractures	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	36
HP:0002659	HP:0002757	Recurrent fractures	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	65
HP:0002659	HP:0002757	Recurrent fractures	1	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0002659	HP:0002757	Recurrent fractures	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0002659	HP:0002756	Pathologic fracture	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	45
HP:0002659	HP:0002757	Recurrent fractures	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional	133
HP:0002659	HP:0002756	Pathologic fracture	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent	63
HP:0002659	HP:0002757	Recurrent fractures	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	2
HP:0002659	HP:0002757	Recurrent fractures	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	3
HP:0002659	HP:0002757	Recurrent fractures	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	17
HP:0002659	HP:0002757	Recurrent fractures	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	172
HP:0002659	HP:0002757	Recurrent fractures	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent	61
HP:0002659	HP:0002757	Recurrent fractures	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	4
HP:0002659	HP:0002757	Recurrent fractures	1	FOXE1 CL E G H	2304	3806	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	9
HP:0002659	HP:0002757	Recurrent fractures	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0002659	HP:0002756	Pathologic fracture	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002659	HP:0002756	Pathologic fracture	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002659	HP:0002756	Pathologic fracture	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.	13
HP:0002659	HP:0002757	Recurrent fractures	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent	45
HP:0002659	HP:0002757	Recurrent fractures	1	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome	HP:0040283 - Occasional	101
HP:0002659	HP:0002757	Recurrent fractures	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional	101
HP:0002659	HP:0002756	Pathologic fracture	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.	101
HP:0002659	HP:0002756	Pathologic fracture	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0002659	HP:0002757	Recurrent fractures	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	52
HP:0002659	HP:0002757	Recurrent fractures	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.	52
HP:0002659	HP:0002757	Recurrent fractures	1	HABP2 CL E G H	3026	4798	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	58
HP:0002659	HP:0002757	Recurrent fractures	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	21
HP:0002659	HP:0002756	Pathologic fracture	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040284 - Very rare	31
HP:0002659	HP:0002756	Pathologic fracture	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040284 - Very rare	5
HP:0002659	HP:0002757	Recurrent fractures	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	113
HP:0002659	HP:0002757	Recurrent fractures	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	8
HP:0002659	HP:0002757	Recurrent fractures	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0002659	HP:0002757	Recurrent fractures	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0002659	HP:0002756	Pathologic fracture	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional	6
HP:0002659	HP:0002757	Recurrent fractures	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.	8
HP:0002659	HP:0002757	Recurrent fractures	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0002659	HP:0002757	Recurrent fractures	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome		4
HP:0002659	HP:0002757	Recurrent fractures	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0002659	HP:0002661	Painless fractures due to injury	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	276
HP:0002659	HP:0005855	Multiple prenatal fractures	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	28
HP:0002659	HP:0005855	Multiple prenatal fractures	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	13
HP:0002659	HP:0005855	Multiple prenatal fractures	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	13
HP:0002659	HP:0002757	Recurrent fractures	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	196
HP:0002659	HP:0005855	Multiple prenatal fractures	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002659	HP:0002757	Recurrent fractures	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002659	HP:0002757	Recurrent fractures	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040283 - Occasional	68
HP:0002659	HP:0002757	Recurrent fractures	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent	144
HP:0002659	HP:0002756	Pathologic fracture	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.	144
HP:0002659	HP:0005855	Multiple prenatal fractures	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	11
HP:0002659	HP:0002757	Recurrent fractures	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0002659	HP:0002756	Pathologic fracture	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0002659	HP:0002756	Pathologic fracture	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040282 - Frequent
HP:0002659	HP:0002757	Recurrent fractures	1	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.	22
HP:0002659	HP:0005855	Multiple prenatal fractures	1	MESD CL E G H	23184	13520	OMIM:618644	OSTEOGENESIS IMPERFECTA, TYPE XX; OI20
HP:0002659	HP:0002756	Pathologic fracture	1	MET CL E G H	4233	7029	OMIM:607278	Osteofibrous dysplasia, susceptibility to		375
HP:0002659	HP:0002757	Recurrent fractures	1	MINPP1 CL E G H	9562	7102	ORPHA:319487	Familial papillary or follicular thyroid carcinoma	HP:0040283 - Occasional	3
HP:0002659	HP:0002757	Recurrent fractures	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.	37
HP:0002659	HP:0002661	Painless fractures due to injury	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.	56
HP:0002659	HP:0002756	Pathologic fracture	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0002659	HP:0002757	Recurrent fractures	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma		85
HP:0002659	HP:0002757	Recurrent fractures	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A		166
HP:0002659	HP:0002757	Recurrent fractures	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional
HP:0002659	HP:0005855	Multiple prenatal fractures	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	745
HP:0002659	HP:0005855	Multiple prenatal fractures	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent	745
HP:0002659	HP:0002757	Recurrent fractures	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002659	HP:0002661	Painless fractures due to injury	1	NGF CL E G H	4803	7808	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	20
HP:0002659	HP:0002661	Painless fractures due to injury	1	NGF CL E G H	4803	7808	OMIM:608654	Neuropathy, hereditary sensory and autonomic, type V	.	20
HP:0002659	HP:0002757	Recurrent fractures	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	27
HP:0002659	HP:0002757	Recurrent fractures	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	17
HP:0002659	HP:0002756	Pathologic fracture	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002659	HP:0002757	Recurrent fractures	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002659	HP:0002757	Recurrent fractures	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	12
HP:0002659	HP:0002757	Recurrent fractures	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.	102
HP:0002659	HP:0002661	Painless fractures due to injury	1	NTRK1 CL E G H	4914	8031	ORPHA:642	Hereditary sensory and autonomic neuropathy type 4	HP:0040282 - Frequent	97
HP:0002659	HP:0002661	Painless fractures due to injury	1	NTRK1 CL E G H	4914	8031	ORPHA:64752	Hereditary sensory and autonomic neuropathy type 5	HP:0040282 - Frequent	97
HP:0002659	HP:0002756	Pathologic fracture	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002659	HP:0002757	Recurrent fractures	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0002659	HP:0002757	Recurrent fractures	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0002659	HP:0005855	Multiple prenatal fractures	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.	43
HP:0002659	HP:0002757	Recurrent fractures	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	2
HP:0002659	HP:0002757	Recurrent fractures	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.	2
HP:0002659	HP:0002757	Recurrent fractures	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	26
HP:0002659	HP:0002757	Recurrent fractures	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	2
HP:0002659	HP:0002757	Recurrent fractures	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3		2
HP:0002659	HP:0002757	Recurrent fractures	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent	45
HP:0002659	HP:0002756	Pathologic fracture	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.	5
HP:0002659	HP:0002757	Recurrent fractures	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.	39
HP:0002659	HP:0003023	Bowing of limbs due to multiple fractures	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX		39
HP:0002659	HP:0005855	Multiple prenatal fractures	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX	.	39
HP:0002659	HP:0002757	Recurrent fractures	1	PRDM5 CL E G H	11107	9349	OMIM:614170	Brittle cornea syndrome 2	HP:0040283 - Occasional	58
HP:0002659	HP:0002757	Recurrent fractures	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	9
HP:0002659	HP:0002757	Recurrent fractures	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0002659	HP:0002757	Recurrent fractures	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040283 - Occasional	948
HP:0002659	HP:0002756	Pathologic fracture	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0002659	HP:0002757	Recurrent fractures	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent	53
HP:0002659	HP:0002756	Pathologic fracture	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	365
HP:0002659	HP:0002756	Pathologic fracture	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional	445
HP:0002659	HP:0002661	Painless fractures due to injury	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	54
HP:0002659	HP:0002757	Recurrent fractures	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION		125
HP:0002659	HP:0002757	Recurrent fractures	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	77
HP:0002659	HP:0002756	Pathologic fracture	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0002659	HP:0002757	Recurrent fractures	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040283 - Occasional	90
HP:0002659	HP:0002756	Pathologic fracture	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002659	HP:0002756	Pathologic fracture	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0002659	HP:0002661	Painless fractures due to injury	1	SCN9A CL E G H	6335	10597	OMIM:243000	Indifference to pain, congenital, autosomal recessive	.	318
HP:0002659	HP:0002661	Painless fractures due to injury	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	318
HP:0002659	HP:0002757	Recurrent fractures	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent	5
HP:0002659	HP:0002757	Recurrent fractures	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	14
HP:0002659	HP:0002757	Recurrent fractures	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional	6
HP:0002659	HP:0002757	Recurrent fractures	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0002659	HP:0002757	Recurrent fractures	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	68
HP:0002659	HP:0002757	Recurrent fractures	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional	68
HP:0002659	HP:0002756	Pathologic fracture	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional	47
HP:0002659	HP:0002756	Pathologic fracture	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040283 - Occasional	52
HP:0002659	HP:0002757	Recurrent fractures	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.	52
HP:0002659	HP:0002756	Pathologic fracture	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.	109
HP:0002659	HP:0002756	Pathologic fracture	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040284 - Very rare	104
HP:0002659	HP:0002757	Recurrent fractures	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.	104
HP:0002659	HP:0002756	Pathologic fracture	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare	164
HP:0002659	HP:0002757	Recurrent fractures	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.	19
HP:0002659	HP:0002757	Recurrent fractures	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040283 - Occasional	19
HP:0002659	HP:0002757	Recurrent fractures	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	2
HP:0002659	HP:0002757	Recurrent fractures	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	61
HP:0002659	HP:0002757	Recurrent fractures	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent	109
HP:0002659	HP:0002757	Recurrent fractures	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII		34
HP:0002659	HP:0002757	Recurrent fractures	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	5
HP:0002659	HP:0002756	Pathologic fracture	1	SPTLC1 CL E G H	10558	11277	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	54
HP:0002659	HP:0002756	Pathologic fracture	1	SPTLC2 CL E G H	9517	11278	ORPHA:36386	Hereditary sensory and autonomic neuropathy type 1	HP:0040283 - Occasional	149
HP:0002659	HP:0002757	Recurrent fractures	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3		62
HP:0002659	HP:0002756	Pathologic fracture	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0002659	HP:0002757	Recurrent fractures	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent	110
HP:0002659	HP:0002757	Recurrent fractures	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.	110
HP:0002659	HP:0002757	Recurrent fractures	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	34
HP:0002659	HP:0002757	Recurrent fractures	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002659	HP:0005855	Multiple prenatal fractures	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002659	HP:0002757	Recurrent fractures	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome		16
HP:0002659	HP:0002757	Recurrent fractures	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	82
HP:0002659	HP:0002757	Recurrent fractures	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	82
HP:0002659	HP:0002757	Recurrent fractures	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent	82
HP:0002659	HP:0002756	Pathologic fracture	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1	.	82
HP:0002659	HP:0002757	Recurrent fractures	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0002659	HP:0002757	Recurrent fractures	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	48
HP:0002659	HP:0002757	Recurrent fractures	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	238
HP:0002659	HP:0002756	Pathologic fracture	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0002659	HP:0002757	Recurrent fractures	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	60
HP:0002659	HP:0002757	Recurrent fractures	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14		4
HP:0002659	HP:0002757	Recurrent fractures	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent	72
HP:0002659	HP:0002756	Pathologic fracture	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.	72
HP:0002659	HP:0002757	Recurrent fractures	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	72
HP:0002659	HP:0002757	Recurrent fractures	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0002659	HP:0002757	Recurrent fractures	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent	44
HP:0002659	HP:0002757	Recurrent fractures	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.	44
HP:0002659	HP:0002757	Recurrent fractures	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent	44
HP:0002659	HP:0002757	Recurrent fractures	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0002659	HP:0002756	Pathologic fracture	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040284 - Very rare	911
HP:0002659	HP:0005855	Multiple prenatal fractures	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent	108
HP:0002659	HP:0002756	Pathologic fracture	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2		31
HP:0002659	HP:0002757	Recurrent fractures	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent	133
HP:0002659	HP:0005855	Multiple prenatal fractures	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0002659	HP:0002757	Recurrent fractures	1	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent	4
HP:0002659	HP:0002757	Recurrent fractures	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	1
HP:0002659	HP:0002756	Pathologic fracture	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0002659	HP:0002757	Recurrent fractures	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002659	HP:0002756	Pathologic fracture	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.	41
HP:0002659	HP:0002757	Recurrent fractures	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	8
HP:0002659	HP:0002756	Pathologic fracture	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040284 - Very rare	63
HP:0002659	HP:0002757	Recurrent fractures	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent	63
HP:0002659	HP:0002757	Recurrent fractures	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent	104
HP:0002659	HP:0002757	Recurrent fractures	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.	104
HP:0002659	HP:0002757	Recurrent fractures	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040283 - Occasional	10
HP:0002659	HP:0002661	Painless fractures due to injury	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.	199
HP:0002659	HP:0002757	Recurrent fractures	1	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent	12
HP:0002659	HP:0003023	Bowing of limbs due to multiple fractures	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12
HP:0002659	HP:0002757	Recurrent fractures	1	WNT1 CL E G H	7471	12774	OMIM:615220	Osteogenesis imperfecta, type XV		12
HP:0002659	HP:0002757	Recurrent fractures	1	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0002659	HP:0002757	Recurrent fractures	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent	40
HP:0002659	HP:0002757	Recurrent fractures	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	.	5
HP:0002659	HP:0002661	Painless fractures due to injury	1	ZFHX2 CL E G H	85446	20152	OMIM:147430	Marsili syndrome
HP:0002659	HP:0002757	Recurrent fractures	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6		2
HP:0002659	HP:0003084	Fractures of the long bones	2	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.	102
HP:0002659	HP:0003084	Fractures of the long bones	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002659	HP:0003084	Fractures of the long bones	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.	85
HP:0002659	HP:0003084	Fractures of the long bones	2	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.	62
HP:0002659	HP:0003084	Fractures of the long bones	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002659	HP:0003084	Fractures of the long bones	2	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional	16
HP:0002659	HP:0003084	Fractures of the long bones	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.	72
HP:0002659	HP:0003987	Fractured ulna	3	CL E G H
HP:0002659	HP:0041223	Fractured metatarsal bone of digit 5	3	CL E G H
HP:0002659	HP:0041144	Fractured clavicle bone	3	CL E G H
HP:0002659	HP:0041222	Fractured fibula	3	CL E G H
HP:0002659	HP:0041143	Fractured tibia	3	CL E G H
HP:0002659	HP:0041221	Fractured head of femur	3	CL E G H
HP:0002659	HP:0041083	Fractured phalanx	3	CL E G H
HP:0002659	HP:0041231	Fractured metatarsal bone of digit 1	3	CL E G H
HP:0002659	HP:0041210	Fractured lateral malleolus of fibula	3	CL E G H
HP:0002659	HP:0041055	Fractured humerus	3	CL E G H
HP:0002659	HP:0041230	Fractured metatarsal bone of digit 4	3	CL E G H
HP:0002659	HP:0041215	Fractured fused metatarsal bones 2-4	3	CL E G H
HP:0002659	HP:0041225	Fractured metacarpal bone of digit 1	3	CL E G H
HP:0002659	HP:0041200	Fractured sternal end of clavicle	3	CL E G H
HP:0002659	HP:0041114	Fractured metaphysis of femur	3	CL E G H
HP:0002659	HP:0041147	Fractured epiphysis	3	CL E G H
HP:0002659	HP:0041159	Fractured rib	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002659	HP:0003978	Fractured radius	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002659	HP:0041192	Fractured epiphysis of fourth metacarpal bone	4	CL E G H
HP:0002659	HP:0041240	Fractured phalanx of pes	4	CL E G H
HP:0002659	HP:0041213	Fractured proximal phalanx of digit 4	4	CL E G H
HP:0002659	HP:0041191	Fractured epiphysis of third metacarpal bone	4	CL E G H
HP:0002659	HP:0041197	Fractured proximal epiphysis of first metacarpal bone	4	CL E G H
HP:0002659	HP:0041089	Avulsion fractured tibia	4	CL E G H
HP:0002659	HP:0041212	Fractured proximal phalanx of digit 3	4	CL E G H
HP:0002659	HP:0041190	Fractured epiphysis of second metacarpal bone	4	CL E G H
HP:0002659	HP:0041196	Fractured distal epiphysis of radius	4	CL E G H
HP:0002659	HP:0041088	Avulsion fractured humerus	4	CL E G H
HP:0002659	HP:0041211	Fractured proximal phalanx of digit 2	4	CL E G H
HP:0002659	HP:0041121	Fractured epiphysis of fifth metacarpal bone	4	CL E G H
HP:0002659	HP:0041189	Fractured epiphysis of femur	4	CL E G H
HP:0002659	HP:0041218	Fractured distal phalanx	4	CL E G H
HP:0002659	HP:0041195	Fractured epiphysis of third metatarsal bone	4	CL E G H
HP:0002659	HP:0041116	Fractured left clavicle	4	CL E G H
HP:0002659	HP:0041216	Fractured distal epiphysis of distal phalanx of manual digit 1	4	CL E G H
HP:0002659	HP:0041194	Fractured epiphysis of second metatarsal bone	4	CL E G H
HP:0002659	HP:0041209	Fractured epiphysis of middle phalanx of manus	4	CL E G H
HP:0002659	HP:0041115	Fractured right clavicle	4	CL E G H
HP:0002659	HP:0033262	Transphyseal fracture of the distal humerus	4	CL E G H
HP:0002659	HP:0041193	Fractured epiphysis of first metatarsal bone	4	CL E G H
HP:0002659	HP:0041241	Fractured phalanx of manus	4	CL E G H
HP:0002659	HP:0041214	Fractured proximal phalanx of digit 5	4	CL E G H
HP:0002659	HP:0041198	Fractured proximal epiphysis of middle phalanx of manual digit 3	5	CL E G H
HP:0002659	HP:0041091	Avulsion fractured epiphysis of femur	5	CL E G H
HP:0002659	HP:0041239	Fractured manual digit 1 phalanx	5	CL E G H
HP:0002659	HP:0041236	Fractured middle phalanx of manus	5	CL E G H
HP:0002659	HP:0041175	Fractured middle phalanx of pes	5	CL E G H
HP:0002659	HP:0041181	Fractured distal phalanx of pedal digit 3	5	CL E G H
HP:0002659	HP:0041243	Fractured proximal phalanx of manus	5	CL E G H
HP:0002659	HP:0041187	Fractured proximal phalanx of pedal digit 1	5	CL E G H
HP:0002659	HP:0041174	Fractured distal phalanx of manus	5	CL E G H
HP:0002659	HP:0041180	Fractured distal phalanx of pedal digit 1	5	CL E G H
HP:0002659	HP:0041179	Fractured distal phalanx of manual digit 5	6	CL E G H
HP:0002659	HP:0041185	Fractured middle phalanx of manual digit 5	6	CL E G H
HP:0002659	HP:0041178	Fractured distal phalanx of manual digit 4	6	CL E G H
HP:0002659	HP:0041184	Fractured middle phalanx of manual digit 4	6	CL E G H
HP:0002659	HP:0041177	Fractured distal phalanx of manual digit 3	6	CL E G H
HP:0002659	HP:0041183	Fractured middle phalanx of manual digit 3	6	CL E G H
HP:0002659	HP:0041176	Fractured distal phalanx of manual digit 2	6	CL E G H
HP:0002659	HP:0041182	Fractured middle phalanx of manual digit 2	6	CL E G H
HP:0002659	HP:0041188	Fractured proximal phalanx of manual digit 1	6	CL E G H
HP:0002659	HP:0041186	Fractured middle phalanx of pedal digit 3	6	CL E G H