Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003330	HP:0003330	Abnormal bone structure	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0003330	HP:0003330	Abnormal bone structure	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0003330	Abnormal bone structure	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003330	HP:0003330	Abnormal bone structure	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003330	HP:0003330	Abnormal bone structure	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0003330	HP:0003330	Abnormal bone structure	0	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0003330	HP:0003330	Abnormal bone structure	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0003330	HP:0003330	Abnormal bone structure	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0003330	HP:0003330	Abnormal bone structure	0	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003330	HP:0003330	Abnormal bone structure	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003330	HP:0003330	Abnormal bone structure	0	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003330	HP:0003330	Abnormal bone structure	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003330	HP:0003330	Abnormal bone structure	0	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria			5
HP:0003330	HP:0003330	Abnormal bone structure	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003330	HP:0003330	Abnormal bone structure	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003330	HP:0003330	Abnormal bone structure	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0003330	HP:0003330	Abnormal bone structure	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0003330	HP:0003330	Abnormal bone structure	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0003330	HP:0003330	Abnormal bone structure	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003330	HP:0003330	Abnormal bone structure	0	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0003330	HP:0003330	Abnormal bone structure	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0003330	HP:0003330	Abnormal bone structure	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0003330	HP:0003330	Abnormal bone structure	0	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0003330	HP:0003330	Abnormal bone structure	0	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0003330	HP:0003330	Abnormal bone structure	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0003330	HP:0003330	Abnormal bone structure	0	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome			54
HP:0003330	HP:0003330	Abnormal bone structure	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0003330	HP:0003330	Abnormal bone structure	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003330	HP:0003330	Abnormal bone structure	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003330	HP:0003330	Abnormal bone structure	0	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0003330	HP:0003330	Abnormal bone structure	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0003330	HP:0003330	Abnormal bone structure	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003330	HP:0003330	Abnormal bone structure	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0003330	HP:0003330	Abnormal bone structure	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003330	HP:0003330	Abnormal bone structure	0	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult			126
HP:0003330	HP:0003330	Abnormal bone structure	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0003330	HP:0003330	Abnormal bone structure	0	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0003330	HP:0003330	Abnormal bone structure	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003330	HP:0003330	Abnormal bone structure	0	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0003330	HP:0003330	Abnormal bone structure	0	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0003330	HP:0003330	Abnormal bone structure	0	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0003330	HP:0003330	Abnormal bone structure	0	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0003330	HP:0003330	Abnormal bone structure	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0003330	HP:0003330	Abnormal bone structure	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly			3
HP:0003330	HP:0003330	Abnormal bone structure	0	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0003330	Abnormal bone structure	0	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0003330	Abnormal bone structure	0	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0003330	HP:0003330	Abnormal bone structure	0	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0003330	HP:0003330	Abnormal bone structure	0	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003330	HP:0003330	Abnormal bone structure	0	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003330	HP:0003330	Abnormal bone structure	0	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis			49
HP:0003330	HP:0003330	Abnormal bone structure	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003330	HP:0003330	Abnormal bone structure	0	APC CL E G H	324	583	ORPHA:873	Desmoid tumor			3179
HP:0003330	HP:0003330	Abnormal bone structure	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0003330	HP:0003330	Abnormal bone structure	0	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0003330	HP:0003330	Abnormal bone structure	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003330	HP:0003330	Abnormal bone structure	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0003330	Abnormal bone structure	0	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0003330	HP:0003330	Abnormal bone structure	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0003330	HP:0003330	Abnormal bone structure	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0003330	Abnormal bone structure	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly			512
HP:0003330	HP:0003330	Abnormal bone structure	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0003330	HP:0003330	Abnormal bone structure	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0003330	HP:0003330	Abnormal bone structure	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0003330	HP:0003330	Abnormal bone structure	0	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0003330	HP:0003330	Abnormal bone structure	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0003330	HP:0003330	Abnormal bone structure	0	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003330	HP:0003330	Abnormal bone structure	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type			22
HP:0003330	HP:0003330	Abnormal bone structure	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0003330	HP:0003330	Abnormal bone structure	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003330	HP:0003330	Abnormal bone structure	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003330	HP:0003330	Abnormal bone structure	0	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0003330	HP:0003330	Abnormal bone structure	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0003330	Abnormal bone structure	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:0003330	HP:0003330	Abnormal bone structure	0	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003330	HP:0003330	Abnormal bone structure	0	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003330	HP:0003330	Abnormal bone structure	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0003330	HP:0003330	Abnormal bone structure	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0003330	Abnormal bone structure	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0003330	HP:0003330	Abnormal bone structure	0	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003330	HP:0003330	Abnormal bone structure	0	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0003330	HP:0003330	Abnormal bone structure	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0003330	HP:0003330	Abnormal bone structure	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0003330	HP:0003330	Abnormal bone structure	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0003330	Abnormal bone structure	0	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0003330	HP:0003330	Abnormal bone structure	0	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0003330	Abnormal bone structure	0	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0003330	HP:0003330	Abnormal bone structure	0	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003330	Abnormal bone structure	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0003330	HP:0003330	Abnormal bone structure	0	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003330	HP:0003330	Abnormal bone structure	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0003330	HP:0003330	Abnormal bone structure	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0003330	HP:0003330	Abnormal bone structure	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0003330	HP:0003330	Abnormal bone structure	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0003330	HP:0003330	Abnormal bone structure	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003330	HP:0003330	Abnormal bone structure	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0003330	HP:0003330	Abnormal bone structure	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0003330	HP:0003330	Abnormal bone structure	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0003330	HP:0003330	Abnormal bone structure	0	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0003330	Abnormal bone structure	0	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0003330	Abnormal bone structure	0	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0003330	HP:0003330	Abnormal bone structure	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0003330	Abnormal bone structure	0	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0003330	HP:0003330	Abnormal bone structure	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0003330	HP:0003330	Abnormal bone structure	0	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis			11
HP:0003330	HP:0003330	Abnormal bone structure	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0003330	HP:0003330	Abnormal bone structure	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003330	HP:0003330	Abnormal bone structure	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0003330	HP:0003330	Abnormal bone structure	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0003330	HP:0003330	Abnormal bone structure	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003330	HP:0003330	Abnormal bone structure	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003330	HP:0003330	Abnormal bone structure	0	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003330	HP:0003330	Abnormal bone structure	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003330	HP:0003330	Abnormal bone structure	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003330	HP:0003330	Abnormal bone structure	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0003330	HP:0003330	Abnormal bone structure	0	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis
HP:0003330	HP:0003330	Abnormal bone structure	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003330	HP:0003330	Abnormal bone structure	0	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003330	HP:0003330	Abnormal bone structure	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003330	HP:0003330	Abnormal bone structure	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003330	HP:0003330	Abnormal bone structure	0	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003330	HP:0003330	Abnormal bone structure	0	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0003330	HP:0003330	Abnormal bone structure	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0003330	HP:0003330	Abnormal bone structure	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly			181
HP:0003330	HP:0003330	Abnormal bone structure	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly			6
HP:0003330	HP:0003330	Abnormal bone structure	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003330	HP:0003330	Abnormal bone structure	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003330	HP:0003330	Abnormal bone structure	0	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0003330	HP:0003330	Abnormal bone structure	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003330	HP:0003330	Abnormal bone structure	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003330	HP:0003330	Abnormal bone structure	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0003330	Abnormal bone structure	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly			161
HP:0003330	HP:0003330	Abnormal bone structure	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly			38
HP:0003330	HP:0003330	Abnormal bone structure	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly			146
HP:0003330	HP:0003330	Abnormal bone structure	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0003330	HP:0003330	Abnormal bone structure	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0003330	HP:0003330	Abnormal bone structure	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0003330	HP:0003330	Abnormal bone structure	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly			31
HP:0003330	HP:0003330	Abnormal bone structure	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0003330	HP:0003330	Abnormal bone structure	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0003330	HP:0003330	Abnormal bone structure	0	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0003330	HP:0003330	Abnormal bone structure	0	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003330	HP:0003330	Abnormal bone structure	0	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma			833
HP:0003330	HP:0003330	Abnormal bone structure	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0003330	HP:0003330	Abnormal bone structure	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:0003330	HP:0003330	Abnormal bone structure	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0003330	Abnormal bone structure	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly			15
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0003330	HP:0003330	Abnormal bone structure	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0003330	HP:0003330	Abnormal bone structure	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0003330	HP:0003330	Abnormal bone structure	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0003330	HP:0003330	Abnormal bone structure	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003330	HP:0003330	Abnormal bone structure	0	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0003330	HP:0003330	Abnormal bone structure	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS			373
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0003330	HP:0003330	Abnormal bone structure	0	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS			243
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent		284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0003330	HP:0003330	Abnormal bone structure	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0003330	Abnormal bone structure	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0003330	HP:0003330	Abnormal bone structure	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003330	HP:0003330	Abnormal bone structure	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003330	HP:0003330	Abnormal bone structure	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003330	HP:0003330	Abnormal bone structure	0	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0003330	HP:0003330	Abnormal bone structure	0	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0003330	HP:0003330	Abnormal bone structure	0	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0003330	HP:0003330	Abnormal bone structure	0	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0003330	HP:0003330	Abnormal bone structure	0	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0003330	HP:0003330	Abnormal bone structure	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0003330	HP:0003330	Abnormal bone structure	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0003330	HP:0003330	Abnormal bone structure	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0003330	HP:0003330	Abnormal bone structure	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0003330	HP:0003330	Abnormal bone structure	0	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0003330	HP:0003330	Abnormal bone structure	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0003330	HP:0003330	Abnormal bone structure	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0003330	Abnormal bone structure	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0003330	HP:0003330	Abnormal bone structure	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0003330	HP:0003330	Abnormal bone structure	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0003330	HP:0003330	Abnormal bone structure	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003330	HP:0003330	Abnormal bone structure	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003330	HP:0003330	Abnormal bone structure	0	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor			88
HP:0003330	HP:0003330	Abnormal bone structure	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0003330	HP:0003330	Abnormal bone structure	0	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0003330	HP:0003330	Abnormal bone structure	0	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0003330	HP:0003330	Abnormal bone structure	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0003330	HP:0003330	Abnormal bone structure	0	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0003330	HP:0003330	Abnormal bone structure	0	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0003330	HP:0003330	Abnormal bone structure	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0003330	HP:0003330	Abnormal bone structure	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0003330	Abnormal bone structure	0	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0003330	Abnormal bone structure	0	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0003330	Abnormal bone structure	0	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0003330	HP:0003330	Abnormal bone structure	0	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0003330	HP:0003330	Abnormal bone structure	0	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0003330	HP:0003330	Abnormal bone structure	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003330	HP:0003330	Abnormal bone structure	0	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0003330	HP:0003330	Abnormal bone structure	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0003330	Abnormal bone structure	0	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0003330	HP:0003330	Abnormal bone structure	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0003330	HP:0003330	Abnormal bone structure	0	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003330	HP:0003330	Abnormal bone structure	0	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003330	HP:0003330	Abnormal bone structure	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0003330	Abnormal bone structure	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0003330	Abnormal bone structure	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003330	HP:0003330	Abnormal bone structure	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0003330	HP:0003330	Abnormal bone structure	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0003330	HP:0003330	Abnormal bone structure	0	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0003330	HP:0003330	Abnormal bone structure	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0003330	HP:0003330	Abnormal bone structure	0	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0003330	Abnormal bone structure	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0003330	Abnormal bone structure	0	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0003330	HP:0003330	Abnormal bone structure	0	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0003330	HP:0003330	Abnormal bone structure	0	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome			48
HP:0003330	HP:0003330	Abnormal bone structure	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003330	HP:0003330	Abnormal bone structure	0	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0003330	HP:0003330	Abnormal bone structure	0	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0003330	HP:0003330	Abnormal bone structure	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0003330	HP:0003330	Abnormal bone structure	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003330	HP:0003330	Abnormal bone structure	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003330	HP:0003330	Abnormal bone structure	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003330	HP:0003330	Abnormal bone structure	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003330	HP:0003330	Abnormal bone structure	0	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0003330	HP:0003330	Abnormal bone structure	0	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0003330	HP:0003330	Abnormal bone structure	0	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003330	HP:0003330	Abnormal bone structure	0	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003330	HP:0003330	Abnormal bone structure	0	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0003330	Abnormal bone structure	0	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0003330	HP:0003330	Abnormal bone structure	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003330	HP:0003330	Abnormal bone structure	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0003330	Abnormal bone structure	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0003330	Abnormal bone structure	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0003330	Abnormal bone structure	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0003330	Abnormal bone structure	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0003330	Abnormal bone structure	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003330	HP:0003330	Abnormal bone structure	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0003330	HP:0003330	Abnormal bone structure	0	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0003330	Abnormal bone structure	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0003330	HP:0003330	Abnormal bone structure	0	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome			3
HP:0003330	HP:0003330	Abnormal bone structure	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003330	HP:0003330	Abnormal bone structure	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003330	HP:0003330	Abnormal bone structure	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003330	HP:0003330	Abnormal bone structure	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0003330	HP:0003330	Abnormal bone structure	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0003330	HP:0003330	Abnormal bone structure	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003330	HP:0003330	Abnormal bone structure	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0003330	Abnormal bone structure	0	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0003330	HP:0003330	Abnormal bone structure	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003330	HP:0003330	Abnormal bone structure	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003330	HP:0003330	Abnormal bone structure	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0003330	HP:0003330	Abnormal bone structure	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003330	HP:0003330	Abnormal bone structure	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0003330	Abnormal bone structure	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003330	HP:0003330	Abnormal bone structure	0	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0003330	HP:0003330	Abnormal bone structure	0	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0003330	HP:0003330	Abnormal bone structure	0	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003330	HP:0003330	Abnormal bone structure	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0003330	HP:0003330	Abnormal bone structure	0	EXT1 CL E G H	2131	3512	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		96
HP:0003330	HP:0003330	Abnormal bone structure	0	EXT2 CL E G H	2132	3513	ORPHA:321	Multiple osteochondromas	HP:0040282 - Frequent		102
HP:0003330	HP:0003330	Abnormal bone structure	0	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0003330	HP:0003330	Abnormal bone structure	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0003330	HP:0003330	Abnormal bone structure	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0003330	HP:0003330	Abnormal bone structure	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0003330	HP:0003330	Abnormal bone structure	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0003330	HP:0003330	Abnormal bone structure	0	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0003330	Abnormal bone structure	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0003330	HP:0003330	Abnormal bone structure	0	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0003330	HP:0003330	Abnormal bone structure	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0003330	HP:0003330	Abnormal bone structure	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0003330	HP:0003330	Abnormal bone structure	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0003330	Abnormal bone structure	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003330	HP:0003330	Abnormal bone structure	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003330	HP:0003330	Abnormal bone structure	0	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0003330	HP:0003330	Abnormal bone structure	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003330	HP:0003330	Abnormal bone structure	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003330	HP:0003330	Abnormal bone structure	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003330	HP:0003330	Abnormal bone structure	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003330	HP:0003330	Abnormal bone structure	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0003330	HP:0003330	Abnormal bone structure	0	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia			3
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0003330	HP:0003330	Abnormal bone structure	0	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia			172
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0003330	Abnormal bone structure	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0003330	HP:0003330	Abnormal bone structure	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0003330	Abnormal bone structure	0	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003330	HP:0003330	Abnormal bone structure	0	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003330	HP:0003330	Abnormal bone structure	0	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0003330	HP:0003330	Abnormal bone structure	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003330	HP:0003330	Abnormal bone structure	0	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003330	HP:0003330	Abnormal bone structure	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0003330	HP:0003330	Abnormal bone structure	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0003330	HP:0003330	Abnormal bone structure	0	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0003330	HP:0003330	Abnormal bone structure	0	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0003330	HP:0003330	Abnormal bone structure	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0003330	HP:0003330	Abnormal bone structure	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0003330	HP:0003330	Abnormal bone structure	0	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003330	HP:0003330	Abnormal bone structure	0	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0003330	HP:0003330	Abnormal bone structure	0	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1			50
HP:0003330	HP:0003330	Abnormal bone structure	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0003330	HP:0003330	Abnormal bone structure	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0003330	HP:0003330	Abnormal bone structure	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003330	HP:0003330	Abnormal bone structure	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003330	HP:0003330	Abnormal bone structure	0	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1			46
HP:0003330	HP:0003330	Abnormal bone structure	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0003330	HP:0003330	Abnormal bone structure	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0003330	HP:0003330	Abnormal bone structure	0	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0003330	HP:0003330	Abnormal bone structure	0	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0003330	HP:0003330	Abnormal bone structure	0	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0003330	HP:0003330	Abnormal bone structure	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0003330	HP:0003330	Abnormal bone structure	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0003330	HP:0003330	Abnormal bone structure	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003330	HP:0003330	Abnormal bone structure	0	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4			51
HP:0003330	HP:0003330	Abnormal bone structure	0	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0003330	Abnormal bone structure	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0003330	HP:0003330	Abnormal bone structure	0	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0003330	HP:0003330	Abnormal bone structure	0	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1			129
HP:0003330	HP:0003330	Abnormal bone structure	0	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0003330	HP:0003330	Abnormal bone structure	0	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0003330	Abnormal bone structure	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0003330	HP:0003330	Abnormal bone structure	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0003330	HP:0003330	Abnormal bone structure	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003330	HP:0003330	Abnormal bone structure	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003330	HP:0003330	Abnormal bone structure	0	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0003330	HP:0003330	Abnormal bone structure	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0003330	HP:0003330	Abnormal bone structure	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0003330	HP:0003330	Abnormal bone structure	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003330	HP:0003330	Abnormal bone structure	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0003330	HP:0003330	Abnormal bone structure	0	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0003330	HP:0003330	Abnormal bone structure	0	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003330	HP:0003330	Abnormal bone structure	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003330	HP:0003330	Abnormal bone structure	0	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0003330	HP:0003330	Abnormal bone structure	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003330	HP:0003330	Abnormal bone structure	0	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0003330	HP:0003330	Abnormal bone structure	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003330	HP:0003330	Abnormal bone structure	0	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003330	HP:0003330	Abnormal bone structure	0	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003330	HP:0003330	Abnormal bone structure	0	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0003330	HP:0003330	Abnormal bone structure	0	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003330	HP:0003330	Abnormal bone structure	0	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003330	HP:0003330	Abnormal bone structure	0	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003330	HP:0003330	Abnormal bone structure	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003330	HP:0003330	Abnormal bone structure	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0003330	HP:0003330	Abnormal bone structure	0	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003330	HP:0003330	Abnormal bone structure	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003330	HP:0003330	Abnormal bone structure	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0003330	Abnormal bone structure	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003330	HP:0003330	Abnormal bone structure	0	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0003330	HP:0003330	Abnormal bone structure	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0003330	HP:0003330	Abnormal bone structure	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0003330	HP:0003330	Abnormal bone structure	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0003330	HP:0003330	Abnormal bone structure	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0003330	HP:0003330	Abnormal bone structure	0	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		580
HP:0003330	HP:0003330	Abnormal bone structure	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0003330	HP:0003330	Abnormal bone structure	0	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		35
HP:0003330	HP:0003330	Abnormal bone structure	0	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		50
HP:0003330	HP:0003330	Abnormal bone structure	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0003330	HP:0003330	Abnormal bone structure	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0003330	HP:0003330	Abnormal bone structure	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0003330	HP:0003330	Abnormal bone structure	0	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0003330	HP:0003330	Abnormal bone structure	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003330	HP:0003330	Abnormal bone structure	0	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0003330	HP:0003330	Abnormal bone structure	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0003330	HP:0003330	Abnormal bone structure	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0003330	HP:0003330	Abnormal bone structure	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0003330	HP:0003330	Abnormal bone structure	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0003330	HP:0003330	Abnormal bone structure	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0003330	HP:0003330	Abnormal bone structure	0	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0003330	HP:0003330	Abnormal bone structure	0	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0003330	Abnormal bone structure	0	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0003330	Abnormal bone structure	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0003330	HP:0003330	Abnormal bone structure	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0003330	Abnormal bone structure	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0003330	HP:0003330	Abnormal bone structure	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0003330	HP:0003330	Abnormal bone structure	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0003330	HP:0003330	Abnormal bone structure	0	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0003330	HP:0003330	Abnormal bone structure	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0003330	HP:0003330	Abnormal bone structure	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003330	HP:0003330	Abnormal bone structure	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0003330	HP:0003330	Abnormal bone structure	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0003330	HP:0003330	Abnormal bone structure	0	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0003330	Abnormal bone structure	0	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy			55
HP:0003330	HP:0003330	Abnormal bone structure	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0003330	Abnormal bone structure	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0003330	HP:0003330	Abnormal bone structure	0	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0003330	HP:0003330	Abnormal bone structure	0	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0003330	HP:0003330	Abnormal bone structure	0	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0003330	HP:0003330	Abnormal bone structure	0	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0003330	HP:0003330	Abnormal bone structure	0	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003330	HP:0003330	Abnormal bone structure	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0003330	HP:0003330	Abnormal bone structure	0	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0003330	HP:0003330	Abnormal bone structure	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0003330	HP:0003330	Abnormal bone structure	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0003330	HP:0003330	Abnormal bone structure	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003330	HP:0003330	Abnormal bone structure	0	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003330	HP:0003330	Abnormal bone structure	0	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0003330	HP:0003330	Abnormal bone structure	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0003330	Abnormal bone structure	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome			15
HP:0003330	HP:0003330	Abnormal bone structure	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003330	HP:0003330	Abnormal bone structure	0	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease			15
HP:0003330	HP:0003330	Abnormal bone structure	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome			29
HP:0003330	HP:0003330	Abnormal bone structure	0	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease			29
HP:0003330	HP:0003330	Abnormal bone structure	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0003330	HP:0003330	Abnormal bone structure	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0003330	Abnormal bone structure	0	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0003330	HP:0003330	Abnormal bone structure	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003330	HP:0003330	Abnormal bone structure	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0003330	HP:0003330	Abnormal bone structure	0	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0003330	HP:0003330	Abnormal bone structure	0	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0003330	HP:0003330	Abnormal bone structure	0	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti			52
HP:0003330	HP:0003330	Abnormal bone structure	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0003330	Abnormal bone structure	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0003330	HP:0003330	Abnormal bone structure	0	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0003330	HP:0003330	Abnormal bone structure	0	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0003330	HP:0003330	Abnormal bone structure	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0003330	Abnormal bone structure	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0003330	HP:0003330	Abnormal bone structure	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0003330	HP:0003330	Abnormal bone structure	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003330	HP:0003330	Abnormal bone structure	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0003330	HP:0003330	Abnormal bone structure	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0003330	HP:0003330	Abnormal bone structure	0	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis			4
HP:0003330	HP:0003330	Abnormal bone structure	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0003330	HP:0003330	Abnormal bone structure	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003330	HP:0003330	Abnormal bone structure	0	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0003330	HP:0003330	Abnormal bone structure	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003330	HP:0003330	Abnormal bone structure	0	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0003330	HP:0003330	Abnormal bone structure	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0003330	HP:0003330	Abnormal bone structure	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003330	HP:0003330	Abnormal bone structure	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0003330	Abnormal bone structure	0	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003330	HP:0003330	Abnormal bone structure	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0003330	HP:0003330	Abnormal bone structure	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly			9
HP:0003330	HP:0003330	Abnormal bone structure	0	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0003330	HP:0003330	Abnormal bone structure	0	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0003330	Abnormal bone structure	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0003330	HP:0003330	Abnormal bone structure	0	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003330	HP:0003330	Abnormal bone structure	0	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0003330	HP:0003330	Abnormal bone structure	0	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0003330	Abnormal bone structure	0	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia			14
HP:0003330	HP:0003330	Abnormal bone structure	0	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003330	HP:0003330	Abnormal bone structure	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0003330	HP:0003330	Abnormal bone structure	0	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0003330	Abnormal bone structure	0	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		42
HP:0003330	HP:0003330	Abnormal bone structure	0	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly			112
HP:0003330	HP:0003330	Abnormal bone structure	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003330	HP:0003330	Abnormal bone structure	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0003330	HP:0003330	Abnormal bone structure	0	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0003330	HP:0003330	Abnormal bone structure	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003330	HP:0003330	Abnormal bone structure	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0003330	Abnormal bone structure	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003330	HP:0003330	Abnormal bone structure	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003330	HP:0003330	Abnormal bone structure	0	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0003330	HP:0003330	Abnormal bone structure	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0003330	Abnormal bone structure	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0003330	HP:0003330	Abnormal bone structure	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003330	HP:0003330	Abnormal bone structure	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0003330	HP:0003330	Abnormal bone structure	0	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0003330	Abnormal bone structure	0	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0003330	HP:0003330	Abnormal bone structure	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0003330	Abnormal bone structure	0	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003330	HP:0003330	Abnormal bone structure	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003330	HP:0003330	Abnormal bone structure	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003330	HP:0003330	Abnormal bone structure	0	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0003330	HP:0003330	Abnormal bone structure	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003330	HP:0003330	Abnormal bone structure	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003330	HP:0003330	Abnormal bone structure	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003330	HP:0003330	Abnormal bone structure	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003330	HP:0003330	Abnormal bone structure	0	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003330	HP:0003330	Abnormal bone structure	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003330	HP:0003330	Abnormal bone structure	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0003330	HP:0003330	Abnormal bone structure	0	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0003330	HP:0003330	Abnormal bone structure	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0003330	HP:0003330	Abnormal bone structure	0	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12			6
HP:0003330	HP:0003330	Abnormal bone structure	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0003330	HP:0003330	Abnormal bone structure	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0003330	Abnormal bone structure	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0003330	HP:0003330	Abnormal bone structure	0	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated			134
HP:0003330	HP:0003330	Abnormal bone structure	0	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0003330	HP:0003330	Abnormal bone structure	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003330	HP:0003330	Abnormal bone structure	0	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0003330	Abnormal bone structure	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0003330	HP:0003330	Abnormal bone structure	0	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0003330	HP:0003330	Abnormal bone structure	0	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			22
HP:0003330	HP:0003330	Abnormal bone structure	0	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0003330	HP:0003330	Abnormal bone structure	0	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0003330	HP:0003330	Abnormal bone structure	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0003330	HP:0003330	Abnormal bone structure	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly			155
HP:0003330	HP:0003330	Abnormal bone structure	0	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003330	HP:0003330	Abnormal bone structure	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003330	HP:0003330	Abnormal bone structure	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003330	HP:0003330	Abnormal bone structure	0	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0003330	HP:0003330	Abnormal bone structure	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0003330	HP:0003330	Abnormal bone structure	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly			5
HP:0003330	HP:0003330	Abnormal bone structure	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0003330	HP:0003330	Abnormal bone structure	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0003330	HP:0003330	Abnormal bone structure	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0003330	HP:0003330	Abnormal bone structure	0	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003330	HP:0003330	Abnormal bone structure	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0003330	HP:0003330	Abnormal bone structure	0	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0003330	HP:0003330	Abnormal bone structure	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0003330	Abnormal bone structure	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003330	HP:0003330	Abnormal bone structure	0	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0003330	HP:0003330	Abnormal bone structure	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003330	HP:0003330	Abnormal bone structure	0	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0003330	Abnormal bone structure	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003330	HP:0003330	Abnormal bone structure	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0003330	HP:0003330	Abnormal bone structure	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003330	HP:0003330	Abnormal bone structure	0	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0003330	HP:0003330	Abnormal bone structure	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0003330	Abnormal bone structure	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0003330	HP:0003330	Abnormal bone structure	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0003330	HP:0003330	Abnormal bone structure	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0003330	Abnormal bone structure	0	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0003330	Abnormal bone structure	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003330	HP:0003330	Abnormal bone structure	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0003330	HP:0003330	Abnormal bone structure	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0003330	HP:0003330	Abnormal bone structure	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0003330	HP:0003330	Abnormal bone structure	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0003330	HP:0003330	Abnormal bone structure	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003330	HP:0003330	Abnormal bone structure	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003330	HP:0003330	Abnormal bone structure	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003330	HP:0003330	Abnormal bone structure	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003330	HP:0003330	Abnormal bone structure	0	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0003330	HP:0003330	Abnormal bone structure	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0003330	HP:0003330	Abnormal bone structure	0	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003330	HP:0003330	Abnormal bone structure	0	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0003330	HP:0003330	Abnormal bone structure	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003330	HP:0003330	Abnormal bone structure	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0003330	HP:0003330	Abnormal bone structure	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0003330	HP:0003330	Abnormal bone structure	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0003330	HP:0003330	Abnormal bone structure	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0003330	HP:0003330	Abnormal bone structure	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003330	HP:0003330	Abnormal bone structure	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0003330	Abnormal bone structure	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0003330	HP:0003330	Abnormal bone structure	0	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0003330	HP:0003330	Abnormal bone structure	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0003330	HP:0003330	Abnormal bone structure	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0003330	HP:0003330	Abnormal bone structure	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003330	HP:0003330	Abnormal bone structure	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0003330	HP:0003330	Abnormal bone structure	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0003330	HP:0003330	Abnormal bone structure	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0003330	HP:0003330	Abnormal bone structure	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0003330	Abnormal bone structure	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003330	HP:0003330	Abnormal bone structure	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0003330	HP:0003330	Abnormal bone structure	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003330	HP:0003330	Abnormal bone structure	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0003330	HP:0003330	Abnormal bone structure	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0003330	HP:0003330	Abnormal bone structure	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0003330	HP:0003330	Abnormal bone structure	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0003330	HP:0003330	Abnormal bone structure	0	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type			53
HP:0003330	HP:0003330	Abnormal bone structure	0	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0003330	HP:0003330	Abnormal bone structure	0	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003330	HP:0003330	Abnormal bone structure	0	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0003330	HP:0003330	Abnormal bone structure	0	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0003330	HP:0003330	Abnormal bone structure	0	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0003330	HP:0003330	Abnormal bone structure	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0003330	Abnormal bone structure	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0003330	Abnormal bone structure	0	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome			34
HP:0003330	HP:0003330	Abnormal bone structure	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003330	HP:0003330	Abnormal bone structure	0	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia			6
HP:0003330	HP:0003330	Abnormal bone structure	0	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0003330	Abnormal bone structure	0	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries			3
HP:0003330	HP:0003330	Abnormal bone structure	0	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0003330	HP:0003330	Abnormal bone structure	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0003330	HP:0003330	Abnormal bone structure	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0003330	HP:0003330	Abnormal bone structure	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0003330	HP:0003330	Abnormal bone structure	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003330	HP:0003330	Abnormal bone structure	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003330	HP:0003330	Abnormal bone structure	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0003330	HP:0003330	Abnormal bone structure	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003330	HP:0003330	Abnormal bone structure	0	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0003330	HP:0003330	Abnormal bone structure	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0003330	HP:0003330	Abnormal bone structure	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0003330	HP:0003330	Abnormal bone structure	0	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0003330	HP:0003330	Abnormal bone structure	0	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003330	HP:0003330	Abnormal bone structure	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0003330	HP:0003330	Abnormal bone structure	0	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0003330	HP:0003330	Abnormal bone structure	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0003330	HP:0003330	Abnormal bone structure	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0003330	HP:0003330	Abnormal bone structure	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0003330	HP:0003330	Abnormal bone structure	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003330	HP:0003330	Abnormal bone structure	0	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0003330	HP:0003330	Abnormal bone structure	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003330	HP:0003330	Abnormal bone structure	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0003330	HP:0003330	Abnormal bone structure	0	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0003330	Abnormal bone structure	0	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0003330	Abnormal bone structure	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0003330	HP:0003330	Abnormal bone structure	0	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0003330	HP:0003330	Abnormal bone structure	0	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0003330	HP:0003330	Abnormal bone structure	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly			16
HP:0003330	HP:0003330	Abnormal bone structure	0	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003330	HP:0003330	Abnormal bone structure	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003330	HP:0003330	Abnormal bone structure	0	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0003330	HP:0003330	Abnormal bone structure	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0003330	HP:0003330	Abnormal bone structure	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0003330	HP:0003330	Abnormal bone structure	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome			162
HP:0003330	HP:0003330	Abnormal bone structure	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003330	HP:0003330	Abnormal bone structure	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003330	HP:0003330	Abnormal bone structure	0	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0003330	HP:0003330	Abnormal bone structure	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0003330	HP:0003330	Abnormal bone structure	0	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0003330	HP:0003330	Abnormal bone structure	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003330	HP:0003330	Abnormal bone structure	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003330	HP:0003330	Abnormal bone structure	0	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003330	HP:0003330	Abnormal bone structure	0	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003330	HP:0003330	Abnormal bone structure	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003330	HP:0003330	Abnormal bone structure	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003330	HP:0003330	Abnormal bone structure	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003330	HP:0003330	Abnormal bone structure	0	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0003330	HP:0003330	Abnormal bone structure	0	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B			31
HP:0003330	HP:0003330	Abnormal bone structure	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003330	HP:0003330	Abnormal bone structure	0	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0003330	HP:0003330	Abnormal bone structure	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0003330	HP:0003330	Abnormal bone structure	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0003330	HP:0003330	Abnormal bone structure	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0003330	HP:0003330	Abnormal bone structure	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0003330	HP:0003330	Abnormal bone structure	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003330	HP:0003330	Abnormal bone structure	0	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003330	Abnormal bone structure	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0003330	HP:0003330	Abnormal bone structure	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003330	HP:0003330	Abnormal bone structure	0	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0003330	HP:0003330	Abnormal bone structure	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003330	HP:0003330	Abnormal bone structure	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0003330	Abnormal bone structure	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0003330	HP:0003330	Abnormal bone structure	0	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0003330	HP:0003330	Abnormal bone structure	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003330	HP:0003330	Abnormal bone structure	0	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0003330	HP:0003330	Abnormal bone structure	0	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0003330	HP:0003330	Abnormal bone structure	0	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0003330	HP:0003330	Abnormal bone structure	0	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003330	HP:0003330	Abnormal bone structure	0	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0003330	HP:0003330	Abnormal bone structure	0	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0003330	Abnormal bone structure	0	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0003330	HP:0003330	Abnormal bone structure	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003330	HP:0003330	Abnormal bone structure	0	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0003330	HP:0003330	Abnormal bone structure	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0003330	HP:0003330	Abnormal bone structure	0	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0003330	HP:0003330	Abnormal bone structure	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0003330	HP:0003330	Abnormal bone structure	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0003330	Abnormal bone structure	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0003330	Abnormal bone structure	0	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome			948
HP:0003330	HP:0003330	Abnormal bone structure	0	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0003330	HP:0003330	Abnormal bone structure	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease			58
HP:0003330	HP:0003330	Abnormal bone structure	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003330	HP:0003330	Abnormal bone structure	0	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003330	HP:0003330	Abnormal bone structure	0	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0003330	HP:0003330	Abnormal bone structure	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly			11
HP:0003330	HP:0003330	Abnormal bone structure	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0003330	HP:0003330	Abnormal bone structure	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0003330	HP:0003330	Abnormal bone structure	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0003330	HP:0003330	Abnormal bone structure	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0003330	HP:0003330	Abnormal bone structure	0	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma			365
HP:0003330	HP:0003330	Abnormal bone structure	0	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0003330	HP:0003330	Abnormal bone structure	0	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0003330	HP:0003330	Abnormal bone structure	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0003330	HP:0003330	Abnormal bone structure	0	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0003330	HP:0003330	Abnormal bone structure	0	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0003330	Abnormal bone structure	0	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0003330	HP:0003330	Abnormal bone structure	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0003330	HP:0003330	Abnormal bone structure	0	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003330	HP:0003330	Abnormal bone structure	0	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003330	HP:0003330	Abnormal bone structure	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0003330	HP:0003330	Abnormal bone structure	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0003330	Abnormal bone structure	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0003330	HP:0003330	Abnormal bone structure	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003330	HP:0003330	Abnormal bone structure	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003330	HP:0003330	Abnormal bone structure	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003330	HP:0003330	Abnormal bone structure	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003330	HP:0003330	Abnormal bone structure	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003330	HP:0003330	Abnormal bone structure	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0003330	HP:0003330	Abnormal bone structure	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0003330	HP:0003330	Abnormal bone structure	0	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0003330	HP:0003330	Abnormal bone structure	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0003330	HP:0003330	Abnormal bone structure	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0003330	HP:0003330	Abnormal bone structure	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003330	HP:0003330	Abnormal bone structure	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0003330	HP:0003330	Abnormal bone structure	0	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003330	HP:0003330	Abnormal bone structure	0	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0003330	HP:0003330	Abnormal bone structure	0	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0003330	HP:0003330	Abnormal bone structure	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0003330	HP:0003330	Abnormal bone structure	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0003330	HP:0003330	Abnormal bone structure	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly			4
HP:0003330	HP:0003330	Abnormal bone structure	0	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003330	HP:0003330	Abnormal bone structure	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0003330	HP:0003330	Abnormal bone structure	0	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0003330	HP:0003330	Abnormal bone structure	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0003330	HP:0003330	Abnormal bone structure	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0003330	HP:0003330	Abnormal bone structure	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0003330	HP:0003330	Abnormal bone structure	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0003330	HP:0003330	Abnormal bone structure	0	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0003330	HP:0003330	Abnormal bone structure	0	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0003330	Abnormal bone structure	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0003330	HP:0003330	Abnormal bone structure	0	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome			237
HP:0003330	HP:0003330	Abnormal bone structure	0	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome			147
HP:0003330	HP:0003330	Abnormal bone structure	0	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome			129
HP:0003330	HP:0003330	Abnormal bone structure	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome			60
HP:0003330	HP:0003330	Abnormal bone structure	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0003330	HP:0003330	Abnormal bone structure	0	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0003330	HP:0003330	Abnormal bone structure	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0003330	HP:0003330	Abnormal bone structure	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0003330	HP:0003330	Abnormal bone structure	0	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0003330	HP:0003330	Abnormal bone structure	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0003330	HP:0003330	Abnormal bone structure	0	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003330	HP:0003330	Abnormal bone structure	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0003330	HP:0003330	Abnormal bone structure	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003330	HP:0003330	Abnormal bone structure	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0003330	HP:0003330	Abnormal bone structure	0	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0003330	HP:0003330	Abnormal bone structure	0	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0003330	HP:0003330	Abnormal bone structure	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003330	HP:0003330	Abnormal bone structure	0	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism			177
HP:0003330	HP:0003330	Abnormal bone structure	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003330	HP:0003330	Abnormal bone structure	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0003330	HP:0003330	Abnormal bone structure	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0003330	Abnormal bone structure	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0003330	HP:0003330	Abnormal bone structure	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003330	HP:0003330	Abnormal bone structure	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1			47
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0003330	HP:0003330	Abnormal bone structure	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0003330	HP:0003330	Abnormal bone structure	0	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0003330	HP:0003330	Abnormal bone structure	0	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0003330	HP:0003330	Abnormal bone structure	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0003330	HP:0003330	Abnormal bone structure	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0003330	HP:0003330	Abnormal bone structure	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003330	HP:0003330	Abnormal bone structure	0	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0003330	HP:0003330	Abnormal bone structure	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003330	HP:0003330	Abnormal bone structure	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0003330	HP:0003330	Abnormal bone structure	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0003330	HP:0003330	Abnormal bone structure	0	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0003330	HP:0003330	Abnormal bone structure	0	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003330	HP:0003330	Abnormal bone structure	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003330	HP:0003330	Abnormal bone structure	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0003330	HP:0003330	Abnormal bone structure	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0003330	HP:0003330	Abnormal bone structure	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0003330	HP:0003330	Abnormal bone structure	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0003330	HP:0003330	Abnormal bone structure	0	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0003330	HP:0003330	Abnormal bone structure	0	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0003330	HP:0003330	Abnormal bone structure	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0003330	Abnormal bone structure	0	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0003330	HP:0003330	Abnormal bone structure	0	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0003330	HP:0003330	Abnormal bone structure	0	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0003330	HP:0003330	Abnormal bone structure	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0003330	HP:0003330	Abnormal bone structure	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0003330	Abnormal bone structure	0	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0003330	HP:0003330	Abnormal bone structure	0	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0003330	Abnormal bone structure	0	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0003330	HP:0003330	Abnormal bone structure	0	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003330	HP:0003330	Abnormal bone structure	0	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0003330	HP:0003330	Abnormal bone structure	0	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0003330	HP:0003330	Abnormal bone structure	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0003330	Abnormal bone structure	0	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0003330	HP:0003330	Abnormal bone structure	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0003330	HP:0003330	Abnormal bone structure	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0003330	HP:0003330	Abnormal bone structure	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0003330	HP:0003330	Abnormal bone structure	0	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0003330	HP:0003330	Abnormal bone structure	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0003330	HP:0003330	Abnormal bone structure	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0003330	HP:0003330	Abnormal bone structure	0	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0003330	HP:0003330	Abnormal bone structure	0	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome			110
HP:0003330	HP:0003330	Abnormal bone structure	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0003330	HP:0003330	Abnormal bone structure	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly			99
HP:0003330	HP:0003330	Abnormal bone structure	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0003330	HP:0003330	Abnormal bone structure	0	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003330	HP:0003330	Abnormal bone structure	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0003330	Abnormal bone structure	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0003330	HP:0003330	Abnormal bone structure	0	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0003330	HP:0003330	Abnormal bone structure	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0003330	HP:0003330	Abnormal bone structure	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0003330	HP:0003330	Abnormal bone structure	0	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0003330	Abnormal bone structure	0	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0003330	HP:0003330	Abnormal bone structure	0	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0003330	Abnormal bone structure	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0003330	HP:0003330	Abnormal bone structure	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly			2
HP:0003330	HP:0003330	Abnormal bone structure	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003330	HP:0003330	Abnormal bone structure	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0003330	Abnormal bone structure	0	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0003330	Abnormal bone structure	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0003330	HP:0003330	Abnormal bone structure	0	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0003330	HP:0003330	Abnormal bone structure	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003330	HP:0003330	Abnormal bone structure	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0003330	HP:0003330	Abnormal bone structure	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0003330	HP:0003330	Abnormal bone structure	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0003330	HP:0003330	Abnormal bone structure	0	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0003330	HP:0003330	Abnormal bone structure	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0003330	HP:0003330	Abnormal bone structure	0	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0003330	HP:0003330	Abnormal bone structure	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0003330	HP:0003330	Abnormal bone structure	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0003330	HP:0003330	Abnormal bone structure	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0003330	HP:0003330	Abnormal bone structure	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0003330	Abnormal bone structure	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0003330	HP:0003330	Abnormal bone structure	0	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0003330	Abnormal bone structure	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0003330	HP:0003330	Abnormal bone structure	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0003330	HP:0003330	Abnormal bone structure	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0003330	HP:0003330	Abnormal bone structure	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0003330	HP:0003330	Abnormal bone structure	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0003330	HP:0003330	Abnormal bone structure	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0003330	HP:0003330	Abnormal bone structure	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0003330	HP:0003330	Abnormal bone structure	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0003330	HP:0003330	Abnormal bone structure	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003330	HP:0003330	Abnormal bone structure	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0003330	Abnormal bone structure	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0003330	Abnormal bone structure	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0003330	HP:0003330	Abnormal bone structure	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003330	HP:0003330	Abnormal bone structure	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0003330	HP:0003330	Abnormal bone structure	0	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0003330	HP:0003330	Abnormal bone structure	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0003330	HP:0003330	Abnormal bone structure	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0003330	HP:0003330	Abnormal bone structure	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0003330	HP:0003330	Abnormal bone structure	0	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0003330	HP:0003330	Abnormal bone structure	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003330	HP:0003330	Abnormal bone structure	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0003330	HP:0003330	Abnormal bone structure	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0003330	Abnormal bone structure	0	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0003330	HP:0003330	Abnormal bone structure	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0003330	Abnormal bone structure	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0003330	Abnormal bone structure	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0003330	HP:0003330	Abnormal bone structure	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0003330	Abnormal bone structure	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0003330	Abnormal bone structure	0	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003330	HP:0003330	Abnormal bone structure	0	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma			911
HP:0003330	HP:0003330	Abnormal bone structure	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003330	HP:0003330	Abnormal bone structure	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0003330	HP:0003330	Abnormal bone structure	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly			1
HP:0003330	HP:0003330	Abnormal bone structure	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly
HP:0003330	HP:0003330	Abnormal bone structure	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0003330	HP:0003330	Abnormal bone structure	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0003330	HP:0003330	Abnormal bone structure	0	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0003330	HP:0003330	Abnormal bone structure	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003330	HP:0003330	Abnormal bone structure	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0003330	HP:0003330	Abnormal bone structure	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0003330	HP:0003330	Abnormal bone structure	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0003330	Abnormal bone structure	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0003330	HP:0003330	Abnormal bone structure	0	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques			151
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0003330	Abnormal bone structure	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0003330	HP:0003330	Abnormal bone structure	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003330	HP:0003330	Abnormal bone structure	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003330	HP:0003330	Abnormal bone structure	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0003330	HP:0003330	Abnormal bone structure	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003330	HP:0003330	Abnormal bone structure	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0003330	HP:0003330	Abnormal bone structure	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0003330	HP:0003330	Abnormal bone structure	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0003330	HP:0003330	Abnormal bone structure	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0003330	HP:0003330	Abnormal bone structure	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy			22
HP:0003330	HP:0003330	Abnormal bone structure	0	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0003330	HP:0003330	Abnormal bone structure	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0003330	HP:0003330	Abnormal bone structure	0	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type			2
HP:0003330	HP:0003330	Abnormal bone structure	0	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0003330	Abnormal bone structure	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0003330	HP:0003330	Abnormal bone structure	0	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003330	HP:0003330	Abnormal bone structure	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0003330	HP:0003330	Abnormal bone structure	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0003330	HP:0003330	Abnormal bone structure	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003330	HP:0003330	Abnormal bone structure	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0003330	HP:0003330	Abnormal bone structure	0	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome			1
HP:0003330	HP:0003330	Abnormal bone structure	0	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003330	HP:0003330	Abnormal bone structure	0	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003330	HP:0003330	Abnormal bone structure	0	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0003330	HP:0003330	Abnormal bone structure	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0003330	HP:0003330	Abnormal bone structure	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0003330	HP:0003330	Abnormal bone structure	0	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0003330	Abnormal bone structure	0	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0003330	HP:0003330	Abnormal bone structure	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0003330	HP:0003330	Abnormal bone structure	0	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0003330	HP:0003330	Abnormal bone structure	0	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0003330	HP:0003330	Abnormal bone structure	0	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0003330	Abnormal bone structure	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0003330	Abnormal bone structure	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003330	HP:0003330	Abnormal bone structure	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003330	HP:0003330	Abnormal bone structure	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly			224
HP:0003330	HP:0003330	Abnormal bone structure	0	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0003330	HP:0003330	Abnormal bone structure	0	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0003330	Abnormal bone structure	0	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0003330	HP:0003330	Abnormal bone structure	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0003330	HP:0003330	Abnormal bone structure	0	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0003330	Abnormal bone structure	0	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003330	HP:0003330	Abnormal bone structure	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0003330	HP:0003330	Abnormal bone structure	0	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0003330	HP:0003330	Abnormal bone structure	0	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003330	HP:0003330	Abnormal bone structure	0	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0003330	HP:0003330	Abnormal bone structure	0	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0003330	HP:0003330	Abnormal bone structure	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0003330	HP:0003330	Abnormal bone structure	0	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003330	HP:0003330	Abnormal bone structure	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0003330	HP:0003330	Abnormal bone structure	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0003330	HP:0003330	Abnormal bone structure	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003330	HP:0003330	Abnormal bone structure	0	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0003330	HP:0003330	Abnormal bone structure	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0003330	Abnormal bone structure	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0003330	Abnormal bone structure	0	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0003330	Abnormal bone structure	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003330	HP:0003330	Abnormal bone structure	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0003330	Abnormal bone structure	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0003330	HP:0003330	Abnormal bone structure	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003330	HP:0003330	Abnormal bone structure	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003330	HP:0003330	Abnormal bone structure	0	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003976	Constricted radius	1	CL E G H
HP:0003330	HP:0011849	Abnormal bone ossification	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0003330	HP:0011849	Abnormal bone ossification	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0011849	Abnormal bone ossification	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003330	HP:0011849	Abnormal bone ossification	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003330	HP:0011849	Abnormal bone ossification	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0003330	HP:0011849	Abnormal bone ossification	1	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0003330	HP:0011849	Abnormal bone ossification	1	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003330	HP:0011849	Abnormal bone ossification	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003330	HP:0011849	Abnormal bone ossification	1	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003330	HP:0011849	Abnormal bone ossification	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003330	HP:0011849	Abnormal bone ossification	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040282 - Frequent		76
HP:0003330	HP:0012062	Bone cyst	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0003330	HP:0012062	Bone cyst	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0003330	HP:0011849	Abnormal bone ossification	1	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0003330	HP:0011849	Abnormal bone ossification	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0003330	HP:0011849	Abnormal bone ossification	1	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0003330	HP:0011849	Abnormal bone ossification	1	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0003330	HP:0011849	Abnormal bone ossification	1	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0003330	HP:0011849	Abnormal bone ossification	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0003330	HP:0012062	Bone cyst	1	AKT1 CL E G H	207	391	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		54
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult			126
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0003330	HP:0011849	Abnormal bone ossification	1	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome			132
HP:0003330	HP:0011849	Abnormal bone ossification	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040283 - Occasional		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		3
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome			8
HP:0003330	HP:0002797	Osteolysis	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003330	HP:0011849	Abnormal bone ossification	1	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003330	HP:0002797	Osteolysis	1	ANTXR2 CL E G H	118429	21732	ORPHA:2028	Juvenile hyaline fibromatosis	HP:0040283 - Occasional		49
HP:0003330	HP:0011849	Abnormal bone ossification	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003330	HP:0002797	Osteolysis	1	APC CL E G H	324	583	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		3179
HP:0003330	HP:0011849	Abnormal bone ossification	1	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0011849	Abnormal bone ossification	1	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0003330	HP:0011849	Abnormal bone ossification	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0003330	HP:0002797	Osteolysis	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		512
HP:0003330	HP:0002797	Osteolysis	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		145
HP:0003330	HP:0011849	Abnormal bone ossification	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0003330	HP:0011849	Abnormal bone ossification	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0003330	HP:0011849	Abnormal bone ossification	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0003330	HP:0002797	Osteolysis	1	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0003330	HP:0002797	Osteolysis	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040283 - Occasional		192
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0003330	HP:0011849	Abnormal bone ossification	1	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type			22
HP:0003330	HP:0012062	Bone cyst	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0011849	Abnormal bone ossification	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:0003330	HP:0011849	Abnormal bone ossification	1	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003330	HP:0011849	Abnormal bone ossification	1	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003330	HP:0011849	Abnormal bone ossification	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0003330	HP:0002797	Osteolysis	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0003330	HP:0011849	Abnormal bone ossification	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0011849	Abnormal bone ossification	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0011849	Abnormal bone ossification	1	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0011849	Abnormal bone ossification	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0003330	HP:0011849	Abnormal bone ossification	1	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003330	HP:0011849	Abnormal bone ossification	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0003330	HP:0011849	Abnormal bone ossification	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0003330	HP:0011849	Abnormal bone ossification	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0003330	HP:0012062	Bone cyst	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0003330	HP:0012062	Bone cyst	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0003330	HP:0012062	Bone cyst	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0003330	HP:0002797	Osteolysis	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0003330	HP:0002797	Osteolysis	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0003330	HP:0002797	Osteolysis	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0003330	HP:0011849	Abnormal bone ossification	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0003330	HP:0011849	Abnormal bone ossification	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0003330	HP:0011849	Abnormal bone ossification	1	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0011849	Abnormal bone ossification	1	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0003330	HP:0011849	Abnormal bone ossification	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0011849	Abnormal bone ossification	1	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0003330	HP:0012062	Bone cyst	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0003330	HP:0002797	Osteolysis	1	CAV1 CL E G H	857	1527	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		11
HP:0003330	HP:0012062	Bone cyst	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0003330	HP:0011849	Abnormal bone ossification	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003330	HP:0002797	Osteolysis	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		317
HP:0003330	HP:0011849	Abnormal bone ossification	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0003330	HP:0011849	Abnormal bone ossification	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0003330	HP:0011849	Abnormal bone ossification	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003330	HP:0011849	Abnormal bone ossification	1	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003330	HP:0011849	Abnormal bone ossification	1	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0003330	HP:0002797	Osteolysis	1	CCN2 CL E G H	1490	2500	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003330	HP:0011849	Abnormal bone ossification	1	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003330	HP:0011849	Abnormal bone ossification	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0003330	HP:0002797	Osteolysis	1	CCR6 CL E G H	1235	1607	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		181
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		6
HP:0003330	HP:0002797	Osteolysis	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003330	HP:0002797	Osteolysis	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0003330	HP:0002797	Osteolysis	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003330	HP:0002797	Osteolysis	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0003330	HP:0011849	Abnormal bone ossification	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003330	HP:0011849	Abnormal bone ossification	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		161
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		38
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		146
HP:0003330	HP:0011849	Abnormal bone ossification	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0003330	HP:0002797	Osteolysis	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		31
HP:0003330	HP:0011849	Abnormal bone ossification	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0003330	HP:0011849	Abnormal bone ossification	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0003330	HP:0011849	Abnormal bone ossification	1	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0003330	HP:0011849	Abnormal bone ossification	1	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003330	HP:0002797	Osteolysis	1	CHEK2 CL E G H	11200	16627	ORPHA:668	Osteosarcoma	HP:0040281 - Very frequent		833
HP:0003330	HP:0006446	Dysplastic patella	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0003330	HP:0011849	Abnormal bone ossification	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:0003330	HP:0011849	Abnormal bone ossification	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		15
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS			373
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS			243
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040281 - Very frequent		284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		284
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0003330	HP:0002797	Osteolysis	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0002797	Osteolysis	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional		749
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003330	HP:0011849	Abnormal bone ossification	1	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0003330	HP:0011849	Abnormal bone ossification	1	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0003330	HP:0011849	Abnormal bone ossification	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0011849	Abnormal bone ossification	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003330	HP:0002797	Osteolysis	1	CTNNB1 CL E G H	1499	2514	ORPHA:873	Desmoid tumor	HP:0040283 - Occasional		88
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0003330	HP:0002797	Osteolysis	1	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0003330	HP:0002797	Osteolysis	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0003330	HP:0002797	Osteolysis	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0002797	Osteolysis	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040281 - Very frequent		39
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0003330	HP:0011849	Abnormal bone ossification	1	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0003330	HP:0011849	Abnormal bone ossification	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0003330	HP:0011849	Abnormal bone ossification	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0003330	HP:0011849	Abnormal bone ossification	1	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003330	HP:0002797	Osteolysis	1	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003330	HP:0011849	Abnormal bone ossification	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0011849	Abnormal bone ossification	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0011849	Abnormal bone ossification	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0003330	HP:0011849	Abnormal bone ossification	1	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome			48
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003330	HP:0011849	Abnormal bone ossification	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003330	HP:0011849	Abnormal bone ossification	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0011849	Abnormal bone ossification	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0011849	Abnormal bone ossification	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0003330	HP:0002797	Osteolysis	1	ELMO2 CL E G H	63916	17233	ORPHA:3019	Ramon syndrome	HP:0040281 - Very frequent		3
HP:0003330	HP:0011849	Abnormal bone ossification	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003330	HP:0011849	Abnormal bone ossification	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003330	HP:0011849	Abnormal bone ossification	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003330	HP:0002797	Osteolysis	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional		133
HP:0003330	HP:0011849	Abnormal bone ossification	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003330	HP:0011849	Abnormal bone ossification	1	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003330	HP:0011849	Abnormal bone ossification	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0011849	Abnormal bone ossification	1	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0003330	HP:0011849	Abnormal bone ossification	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003330	HP:0011849	Abnormal bone ossification	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0003330	HP:0011849	Abnormal bone ossification	1	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003330	HP:0011849	Abnormal bone ossification	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0011849	Abnormal bone ossification	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003330	HP:0011849	Abnormal bone ossification	1	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003330	HP:0011849	Abnormal bone ossification	1	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0003330	HP:0011849	Abnormal bone ossification	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0011849	Abnormal bone ossification	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003330	HP:0011849	Abnormal bone ossification	1	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0003330	HP:0011849	Abnormal bone ossification	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0003330	HP:0011849	Abnormal bone ossification	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003330	HP:0011849	Abnormal bone ossification	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0003330	HP:0011849	Abnormal bone ossification	1	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003330	HP:0002797	Osteolysis	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0003330	HP:0012062	Bone cyst	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFR1 CL E G H	2260	3688	ORPHA:2645	Osteoglosphonic dysplasia	HP:0040283 - Occasional		172
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0011849	Abnormal bone ossification	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0003330	HP:0011849	Abnormal bone ossification	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0011849	Abnormal bone ossification	1	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003330	HP:0011849	Abnormal bone ossification	1	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003330	HP:0011849	Abnormal bone ossification	1	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0003330	HP:0011849	Abnormal bone ossification	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003330	HP:0002797	Osteolysis	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003330	HP:0002797	Osteolysis	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040281 - Very frequent		493
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003330	HP:0002797	Osteolysis	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent		233
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040282 - Frequent		9
HP:0003330	HP:0012062	Bone cyst	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0003330	HP:0011849	Abnormal bone ossification	1	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003330	HP:0011849	Abnormal bone ossification	1	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0003330	HP:0011849	Abnormal bone ossification	1	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1			50
HP:0003330	HP:0011849	Abnormal bone ossification	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0003330	HP:0011849	Abnormal bone ossification	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003330	HP:0011849	Abnormal bone ossification	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1			46
HP:0003330	HP:0011849	Abnormal bone ossification	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0003330	HP:0002797	Osteolysis	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		29
HP:0003330	HP:0011849	Abnormal bone ossification	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0003330	HP:0011849	Abnormal bone ossification	1	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0003330	HP:0011849	Abnormal bone ossification	1	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0003330	HP:0011849	Abnormal bone ossification	1	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0003330	HP:0002797	Osteolysis	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0003330	HP:0002797	Osteolysis	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0003330	HP:0011849	Abnormal bone ossification	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0003330	HP:0011849	Abnormal bone ossification	1	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1			129
HP:0003330	HP:0011849	Abnormal bone ossification	1	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040282 - Frequent		68
HP:0003330	HP:0002797	Osteolysis	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040283 - Occasional		199
HP:0003330	HP:0011849	Abnormal bone ossification	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003330	HP:0011849	Abnormal bone ossification	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003330	HP:0011849	Abnormal bone ossification	1	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0003330	HP:0011849	Abnormal bone ossification	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent		45
HP:0003330	HP:0011849	Abnormal bone ossification	1	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0003330	HP:0006433	Radial dysplasia	1	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia			270
HP:0003330	HP:0011849	Abnormal bone ossification	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003330	HP:0010734	Fibrous dysplasia of the bones	1	GNAS CL E G H	2778	4392	ORPHA:57782	Mazabraud syndrome	HP:0040281 - Very frequent		101
HP:0003330	HP:0010734	Fibrous dysplasia of the bones	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent		101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0003330	HP:0012062	Bone cyst	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0003330	HP:0010734	Fibrous dysplasia of the bones	1	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003330	HP:0011849	Abnormal bone ossification	1	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		52
HP:0003330	HP:0011849	Abnormal bone ossification	1	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003330	HP:0011849	Abnormal bone ossification	1	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003330	HP:0011849	Abnormal bone ossification	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003330	HP:0011849	Abnormal bone ossification	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0003330	HP:0011849	Abnormal bone ossification	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0003330	HP:0011849	Abnormal bone ossification	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0003330	HP:0011849	Abnormal bone ossification	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0003330	HP:0011849	Abnormal bone ossification	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0003330	HP:0011849	Abnormal bone ossification	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0003330	HP:0011849	Abnormal bone ossification	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003330	HP:0011849	Abnormal bone ossification	1	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0003330	HP:0011849	Abnormal bone ossification	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0003330	HP:0011849	Abnormal bone ossification	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0003330	HP:0011849	Abnormal bone ossification	1	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0003330	HP:0011849	Abnormal bone ossification	1	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0011849	Abnormal bone ossification	1	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0002797	Osteolysis	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		2
HP:0003330	HP:0012062	Bone cyst	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0003330	HP:0012062	Bone cyst	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	.		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0003330	HP:0011849	Abnormal bone ossification	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0003330	HP:0002797	Osteolysis	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		31
HP:0003330	HP:0034159	Paget disease of bone	1	HNRNPA2B1 CL E G H	3181	5033	OMIM:615422	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2			5
HP:0003330	HP:0002797	Osteolysis	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		5
HP:0003330	HP:0011849	Abnormal bone ossification	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003330	HP:0011849	Abnormal bone ossification	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	HPGD CL E G H	3248	5154	ORPHA:1525	Cranio-osteoarthropathy	HP:0040281 - Very frequent		55
HP:0003330	HP:0002797	Osteolysis	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0011849	Abnormal bone ossification	1	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0002797	Osteolysis	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		55
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent		55
HP:0003330	HP:0011849	Abnormal bone ossification	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0003330	HP:0011849	Abnormal bone ossification	1	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0003330	HP:0011849	Abnormal bone ossification	1	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0003330	HP:0011849	Abnormal bone ossification	1	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0003330	HP:0011849	Abnormal bone ossification	1	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0003330	HP:0011849	Abnormal bone ossification	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003330	HP:0011849	Abnormal bone ossification	1	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003330	HP:0011849	Abnormal bone ossification	1	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0002797	Osteolysis	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040281 - Very frequent		15
HP:0003330	HP:0011849	Abnormal bone ossification	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0003330	HP:0002797	Osteolysis	1	IDH1 CL E G H	3417	5382	ORPHA:296	Ollier disease	HP:0040281 - Very frequent		15
HP:0003330	HP:0002797	Osteolysis	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040281 - Very frequent		29
HP:0003330	HP:0002797	Osteolysis	1	IDH2 CL E G H	3418	5383	ORPHA:296	Ollier disease	HP:0040281 - Very frequent		29
HP:0003330	HP:0011849	Abnormal bone ossification	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0003330	HP:0002797	Osteolysis	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0003330	HP:0011849	Abnormal bone ossification	1	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0003330	HP:0011849	Abnormal bone ossification	1	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0003330	HP:0002797	Osteolysis	1	IKBKG CL E G H	8517	5961	ORPHA:464	Incontinentia pigmenti	HP:0040282 - Frequent		52
HP:0003330	HP:0011849	Abnormal bone ossification	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0011849	Abnormal bone ossification	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0003330	HP:0011849	Abnormal bone ossification	1	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0003330	HP:0002797	Osteolysis	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0003330	HP:0011849	Abnormal bone ossification	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0003330	HP:0011849	Abnormal bone ossification	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003330	HP:0011849	Abnormal bone ossification	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0003330	HP:0011849	Abnormal bone ossification	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0003330	HP:0002797	Osteolysis	1	IRF5 CL E G H	3663	6120	ORPHA:220393	Diffuse cutaneous systemic sclerosis	HP:0040282 - Frequent		4
HP:0003330	HP:0011849	Abnormal bone ossification	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita			124
HP:0003330	HP:0011849	Abnormal bone ossification	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003330	HP:0011849	Abnormal bone ossification	1	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003330	HP:0011849	Abnormal bone ossification	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003330	HP:0011849	Abnormal bone ossification	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		9
HP:0003330	HP:0002797	Osteolysis	1	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0003330	HP:0011849	Abnormal bone ossification	1	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0003330	HP:0002797	Osteolysis	1	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0011849	Abnormal bone ossification	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0003330	HP:0011849	Abnormal bone ossification	1	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0003330	HP:0011849	Abnormal bone ossification	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0012062	Bone cyst	1	KLLN CL E G H	100144748	37212	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		112
HP:0003330	HP:0011849	Abnormal bone ossification	1	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003330	HP:0002797	Osteolysis	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0003330	HP:0012062	Bone cyst	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0003330	HP:0011849	Abnormal bone ossification	1	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0003330	HP:0011849	Abnormal bone ossification	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003330	HP:0011849	Abnormal bone ossification	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0011849	Abnormal bone ossification	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003330	HP:0011849	Abnormal bone ossification	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003330	HP:0011849	Abnormal bone ossification	1	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0011849	Abnormal bone ossification	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0003330	HP:0011849	Abnormal bone ossification	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040281 - Very frequent		68
HP:0003330	HP:0011849	Abnormal bone ossification	1	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003330	HP:0011849	Abnormal bone ossification	1	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0003330	HP:0011849	Abnormal bone ossification	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0003330	HP:0011849	Abnormal bone ossification	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003330	HP:0011849	Abnormal bone ossification	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003330	HP:0011849	Abnormal bone ossification	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003330	HP:0002797	Osteolysis	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003330	HP:0002797	Osteolysis	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0002797	Osteolysis	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0002797	Osteolysis	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0003330	HP:0002797	Osteolysis	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0002797	Osteolysis	1	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003330	HP:0011849	Abnormal bone ossification	1	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003330	HP:0011849	Abnormal bone ossification	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		124
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent		125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0003330	HP:0002797	Osteolysis	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent		63
HP:0003330	HP:0002797	Osteolysis	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0003330	HP:0011849	Abnormal bone ossification	1	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0003330	HP:0002797	Osteolysis	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0011849	Abnormal bone ossification	1	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0003330	HP:0011849	Abnormal bone ossification	1	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0003330	HP:0002797	Osteolysis	1	MBTPS2 CL E G H	51360	15455	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional		22
HP:0003330	HP:0011849	Abnormal bone ossification	1	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0003330	HP:0011849	Abnormal bone ossification	1	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		155
HP:0003330	HP:0011849	Abnormal bone ossification	1	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003330	HP:0011849	Abnormal bone ossification	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003330	HP:0002797	Osteolysis	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0003330	HP:0011849	Abnormal bone ossification	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003330	HP:0011849	Abnormal bone ossification	1	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0003330	HP:0011849	Abnormal bone ossification	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		5
HP:0003330	HP:0011849	Abnormal bone ossification	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0003330	HP:0011849	Abnormal bone ossification	1	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003330	HP:0011849	Abnormal bone ossification	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0003330	HP:0011849	Abnormal bone ossification	1	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0003330	HP:0011849	Abnormal bone ossification	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0003330	HP:0002797	Osteolysis	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003330	HP:0002797	Osteolysis	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0002797	Osteolysis	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0002797	Osteolysis	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0011849	Abnormal bone ossification	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003330	HP:0011849	Abnormal bone ossification	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0003330	HP:0011849	Abnormal bone ossification	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0003330	HP:0011849	Abnormal bone ossification	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0011849	Abnormal bone ossification	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0003330	HP:0011849	Abnormal bone ossification	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0003330	HP:0002797	Osteolysis	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0011849	Abnormal bone ossification	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0002797	Osteolysis	1	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003330	HP:0011849	Abnormal bone ossification	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0003330	HP:0011849	Abnormal bone ossification	1	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		1
HP:0003330	HP:0011849	Abnormal bone ossification	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003330	HP:0002797	Osteolysis	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0003330	HP:0011849	Abnormal bone ossification	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0003330	HP:0012062	Bone cyst	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0003330	HP:0011849	Abnormal bone ossification	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0011849	Abnormal bone ossification	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0003330	HP:0011849	Abnormal bone ossification	1	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003330	HP:0011849	Abnormal bone ossification	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0003330	HP:0011849	Abnormal bone ossification	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0003330	HP:0011849	Abnormal bone ossification	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003330	HP:0002797	Osteolysis	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0002797	Osteolysis	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0003330	HP:0011849	Abnormal bone ossification	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0011849	Abnormal bone ossification	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003330	HP:0002797	Osteolysis	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional		144
HP:0003330	HP:0012062	Bone cyst	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		144
HP:0003330	HP:0011849	Abnormal bone ossification	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003330	HP:0011849	Abnormal bone ossification	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0003330	HP:0011849	Abnormal bone ossification	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0003330	HP:0011849	Abnormal bone ossification	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0003330	HP:0011849	Abnormal bone ossification	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0003330	HP:0011849	Abnormal bone ossification	1	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type			53
HP:0003330	HP:0011849	Abnormal bone ossification	1	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003330	HP:0011849	Abnormal bone ossification	1	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0003330	HP:0011849	Abnormal bone ossification	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0011849	Abnormal bone ossification	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	NSDHL CL E G H	50814	13398	OMIM:300831	Ck syndrome	.		34
HP:0003330	HP:0011849	Abnormal bone ossification	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0003330	HP:0011849	Abnormal bone ossification	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0003330	HP:0011849	Abnormal bone ossification	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0003330	HP:0011849	Abnormal bone ossification	1	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003330	HP:0011849	Abnormal bone ossification	1	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003330	HP:0011849	Abnormal bone ossification	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0003330	HP:0011849	Abnormal bone ossification	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003330	HP:0011849	Abnormal bone ossification	1	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0003330	HP:0011849	Abnormal bone ossification	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0003330	HP:0030327	Abnormal osteoclast count	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0003330	HP:0011849	Abnormal bone ossification	1	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0003330	HP:0011849	Abnormal bone ossification	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003330	HP:0011862	Abnormal bone collagen fibril morphology	1	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003330	HP:0011849	Abnormal bone ossification	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0003330	HP:0011849	Abnormal bone ossification	1	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0003330	HP:0011849	Abnormal bone ossification	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0003330	HP:0011849	Abnormal bone ossification	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0003330	HP:0011849	Abnormal bone ossification	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003330	HP:0002797	Osteolysis	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional		28
HP:0003330	HP:0012062	Bone cyst	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040281 - Very frequent		28
HP:0003330	HP:0002797	Osteolysis	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0011849	Abnormal bone ossification	1	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0011849	Abnormal bone ossification	1	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0003330	HP:0002797	Osteolysis	1	PERP CL E G H	64065	17637	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0003330	HP:0011849	Abnormal bone ossification	1	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		16
HP:0003330	HP:0011849	Abnormal bone ossification	1	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003330	HP:0011849	Abnormal bone ossification	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003330	HP:0011849	Abnormal bone ossification	1	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0003330	HP:0011849	Abnormal bone ossification	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0003330	HP:0002797	Osteolysis	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003330	HP:0012062	Bone cyst	1	PIK3CA CL E G H	5290	8975	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		162
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita			759
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003330	HP:0011849	Abnormal bone ossification	1	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003330	HP:0011849	Abnormal bone ossification	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003330	HP:0011849	Abnormal bone ossification	1	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0003330	HP:0011849	Abnormal bone ossification	1	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B			31
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome			38
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome			31
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0011849	Abnormal bone ossification	1	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0003330	HP:0011849	Abnormal bone ossification	1	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0003330	HP:0011849	Abnormal bone ossification	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003330	HP:0011849	Abnormal bone ossification	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0012062	Bone cyst	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0003330	HP:0011849	Abnormal bone ossification	1	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003330	HP:0012062	Bone cyst	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0003330	HP:0011849	Abnormal bone ossification	1	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0003330	HP:0011849	Abnormal bone ossification	1	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0012062	Bone cyst	1	PTEN CL E G H	5728	9588	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		948
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0003330	HP:0011849	Abnormal bone ossification	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003330	HP:0002797	Osteolysis	1	PTH1R CL E G H	5745	9608	ORPHA:296	Ollier disease	HP:0040281 - Very frequent		58
HP:0003330	HP:0011849	Abnormal bone ossification	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003330	HP:0011849	Abnormal bone ossification	1	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003330	HP:0011849	Abnormal bone ossification	1	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		53
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		11
HP:0003330	HP:0011849	Abnormal bone ossification	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0003330	HP:0011849	Abnormal bone ossification	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0003330	HP:0011849	Abnormal bone ossification	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0003330	HP:0002797	Osteolysis	1	RB1 CL E G H	5925	9884	ORPHA:668	Osteosarcoma	HP:0040281 - Very frequent		365
HP:0003330	HP:0011849	Abnormal bone ossification	1	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0003330	HP:0011849	Abnormal bone ossification	1	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0003330	HP:0011849	Abnormal bone ossification	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0003330	HP:0002797	Osteolysis	1	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0003330	HP:0011849	Abnormal bone ossification	1	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0003330	HP:0002797	Osteolysis	1	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0002797	Osteolysis	1	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0003330	HP:0011849	Abnormal bone ossification	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0003330	HP:0011849	Abnormal bone ossification	1	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003330	HP:0011849	Abnormal bone ossification	1	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003330	HP:0011849	Abnormal bone ossification	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0003330	HP:0011849	Abnormal bone ossification	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003330	HP:0011849	Abnormal bone ossification	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003330	HP:0011849	Abnormal bone ossification	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003330	HP:0011849	Abnormal bone ossification	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0003330	HP:0011849	Abnormal bone ossification	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0003330	HP:0011849	Abnormal bone ossification	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0003330	HP:0011849	Abnormal bone ossification	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003330	HP:0002797	Osteolysis	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		181
HP:0003330	HP:0011849	Abnormal bone ossification	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0003330	HP:0011849	Abnormal bone ossification	1	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003330	HP:0011849	Abnormal bone ossification	1	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0003330	HP:0011849	Abnormal bone ossification	1	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0003330	HP:0006433	Radial dysplasia	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0003330	HP:0006433	Radial dysplasia	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		4
HP:0003330	HP:0011849	Abnormal bone ossification	1	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0003330	HP:0002797	Osteolysis	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0003330	HP:0011849	Abnormal bone ossification	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0003330	HP:0002797	Osteolysis	1	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0003330	HP:0011849	Abnormal bone ossification	1	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0003330	HP:0002797	Osteolysis	1	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0011849	Abnormal bone ossification	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0003330	HP:0012062	Bone cyst	1	SDHB CL E G H	6390	10681	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		237
HP:0003330	HP:0012062	Bone cyst	1	SDHC CL E G H	6391	10682	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		147
HP:0003330	HP:0012062	Bone cyst	1	SDHD CL E G H	6392	10683	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		129
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0003330	HP:0012062	Bone cyst	1	SEC23B CL E G H	10483	10702	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		60
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0003330	HP:0011849	Abnormal bone ossification	1	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0003330	HP:0011849	Abnormal bone ossification	1	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0003330	HP:0011849	Abnormal bone ossification	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0003330	HP:0011849	Abnormal bone ossification	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003330	HP:0011849	Abnormal bone ossification	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0003330	HP:0011849	Abnormal bone ossification	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003330	HP:0012062	Bone cyst	1	SH3BP2 CL E G H	6452	10825	ORPHA:184	Cherubism	HP:0040281 - Very frequent		177
HP:0003330	HP:0002797	Osteolysis	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent		134
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003330	HP:0011849	Abnormal bone ossification	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0011849	Abnormal bone ossification	1	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003330	HP:0011849	Abnormal bone ossification	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0003330	HP:0002797	Osteolysis	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0003330	HP:0030313	Abnormal periosteum morphology	1	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2			13
HP:0003330	HP:0002797	Osteolysis	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040282 - Frequent		13
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040281 - Very frequent		13
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0003330	HP:0011849	Abnormal bone ossification	1	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0003330	HP:0011849	Abnormal bone ossification	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0011849	Abnormal bone ossification	1	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0011849	Abnormal bone ossification	1	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003330	HP:0002797	Osteolysis	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.		62
HP:0003330	HP:0011849	Abnormal bone ossification	1	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0003330	HP:0002797	Osteolysis	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		1
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0003330	HP:0011849	Abnormal bone ossification	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0003330	HP:0011849	Abnormal bone ossification	1	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0003330	HP:0011849	Abnormal bone ossification	1	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome			110
HP:0003330	HP:0011849	Abnormal bone ossification	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		99
HP:0003330	HP:0011849	Abnormal bone ossification	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003330	HP:0011849	Abnormal bone ossification	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0003330	HP:0011849	Abnormal bone ossification	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0011849	Abnormal bone ossification	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040281 - Very frequent		16
HP:0003330	HP:0011849	Abnormal bone ossification	1	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0011849	Abnormal bone ossification	1	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome			140
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0011849	Abnormal bone ossification	1	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0003330	HP:0011849	Abnormal bone ossification	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0003330	HP:0011849	Abnormal bone ossification	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0003330	HP:0011849	Abnormal bone ossification	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0003330	HP:0011849	Abnormal bone ossification	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0003330	HP:0011849	Abnormal bone ossification	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0003330	HP:0002797	Osteolysis	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		3
HP:0003330	HP:0011849	Abnormal bone ossification	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0003330	HP:0011849	Abnormal bone ossification	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0003330	HP:0011849	Abnormal bone ossification	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003330	HP:0011849	Abnormal bone ossification	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0003330	HP:0011849	Abnormal bone ossification	1	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0003330	HP:0011849	Abnormal bone ossification	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0003330	HP:0011849	Abnormal bone ossification	1	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0003330	HP:0011849	Abnormal bone ossification	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0003330	HP:0011849	Abnormal bone ossification	1	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0003330	HP:0011849	Abnormal bone ossification	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003330	HP:0011849	Abnormal bone ossification	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0011849	Abnormal bone ossification	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0011849	Abnormal bone ossification	1	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0003330	HP:0011849	Abnormal bone ossification	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0003330	HP:0002797	Osteolysis	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.		72
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis			72
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0003330	HP:0002797	Osteolysis	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset	.		72
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0030327	Abnormal osteoclast count	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0011849	Abnormal bone ossification	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0003330	HP:0011849	Abnormal bone ossification	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0011849	Abnormal bone ossification	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0011849	Abnormal bone ossification	1	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003330	HP:0002797	Osteolysis	1	TP53 CL E G H	7157	11998	ORPHA:668	Osteosarcoma	HP:0040281 - Very frequent		911
HP:0003330	HP:0011849	Abnormal bone ossification	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		1
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0003330	HP:0011849	Abnormal bone ossification	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0003330	HP:0012062	Bone cyst	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0003330	HP:0011849	Abnormal bone ossification	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0003330	HP:0012062	Bone cyst	1	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0002797	Osteolysis	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0003330	HP:0002797	Osteolysis	1	TRPV3 CL E G H	162514	18084	ORPHA:659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	HP:0040283 - Occasional		151
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0011849	Abnormal bone ossification	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0003330	HP:0011849	Abnormal bone ossification	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003330	HP:0011849	Abnormal bone ossification	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003330	HP:0011849	Abnormal bone ossification	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0003330	HP:0011849	Abnormal bone ossification	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003330	HP:0011849	Abnormal bone ossification	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0003330	HP:0011849	Abnormal bone ossification	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0003330	HP:0012062	Bone cyst	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0003330	HP:0012062	Bone cyst	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.		22
HP:0003330	HP:0011849	Abnormal bone ossification	1	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita
HP:0003330	HP:0011849	Abnormal bone ossification	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent		2
HP:0003330	HP:0011849	Abnormal bone ossification	1	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0011849	Abnormal bone ossification	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0003330	HP:0011849	Abnormal bone ossification	1	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003330	HP:0002797	Osteolysis	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040284 - Very rare		31
HP:0003330	HP:0011849	Abnormal bone ossification	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0003330	HP:0002797	Osteolysis	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040284 - Very rare		41
HP:0003330	HP:0011849	Abnormal bone ossification	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0003330	HP:0002797	Osteolysis	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0003330	HP:0011849	Abnormal bone ossification	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0003330	HP:0011849	Abnormal bone ossification	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0003330	HP:0012062	Bone cyst	1	USF3 CL E G H	205717	30494	ORPHA:201	Cowden syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0011849	Abnormal bone ossification	1	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003330	HP:0011849	Abnormal bone ossification	1	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0003330	HP:0011849	Abnormal bone ossification	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0003330	HP:0011849	Abnormal bone ossification	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0003330	HP:0011849	Abnormal bone ossification	1	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0034159	Paget disease of bone	1	VCP CL E G H	7415	12666	OMIM:167320	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1			63
HP:0003330	HP:0002797	Osteolysis	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040282 - Frequent		63
HP:0003330	HP:0011849	Abnormal bone ossification	1	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0003330	HP:0002797	Osteolysis	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0003330	HP:0011849	Abnormal bone ossification	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0003330	HP:0012062	Bone cyst	1	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0011849	Abnormal bone ossification	1	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0011849	Abnormal bone ossification	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0011849	Abnormal bone ossification	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003330	HP:0011849	Abnormal bone ossification	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003330	HP:0011849	Abnormal bone ossification	1	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0003330	HP:0011849	Abnormal bone ossification	1	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003330	HP:0011849	Abnormal bone ossification	1	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0003330	HP:0011849	Abnormal bone ossification	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0003330	HP:0011849	Abnormal bone ossification	1	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0003330	HP:0011849	Abnormal bone ossification	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent		224
HP:0003330	HP:0002797	Osteolysis	1	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0003330	HP:0011849	Abnormal bone ossification	1	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0003330	HP:0002797	Osteolysis	1	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0011849	Abnormal bone ossification	1	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0003330	HP:0011849	Abnormal bone ossification	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0003330	HP:0011849	Abnormal bone ossification	1	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0011849	Abnormal bone ossification	1	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003330	HP:0100671	Abnormal trabecular bone morphology	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0003330	HP:0011849	Abnormal bone ossification	1	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0003330	HP:0011849	Abnormal bone ossification	1	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003330	HP:0011849	Abnormal bone ossification	1	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0003330	HP:0011849	Abnormal bone ossification	1	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0003330	HP:0011849	Abnormal bone ossification	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0003330	HP:0011849	Abnormal bone ossification	1	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0003330	HP:0003103	Abnormal cortical bone morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0003330	HP:0011849	Abnormal bone ossification	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0003330	HP:0002797	Osteolysis	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0003330	HP:0012062	Bone cyst	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0003330	HP:0002797	Osteolysis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0002797	Osteolysis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0002797	Osteolysis	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003330	HP:0002797	Osteolysis	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003330	HP:0011849	Abnormal bone ossification	1	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0005926	Abnormal hand cortical bone morphology	2	CL E G H
HP:0003330	HP:0006175	Proximal phalangeal periosteal thickening	2	CL E G H
HP:0003330	HP:0006420	Asymmetric radial dysplasia	2	CL E G H
HP:0003330	HP:0008074	Metatarsal periosteal thickening	2	CL E G H
HP:0003330	HP:0010629	Abnormal morphology of the cortex of the humerus	2	CL E G H
HP:0003330	HP:0010657	Patchy reduction of bone mineral density	2	CL E G H
HP:0003330	HP:0012064	Unicameral bone cyst	2	CL E G H
HP:0003330	HP:0012790	Abnormal intramembranous ossification	2	CL E G H
HP:0003330	HP:0025332	Abnormality of foot cortical bone	2	CL E G H
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0003330	HP:0011986	Ectopic ossification	2	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva			49
HP:0003330	HP:0011986	Ectopic ossification	2	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva			49
HP:0003330	HP:0002753	Thin bony cortex	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0003330	HP:0002833	Cystic angiomatosis of bone	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I			260
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome			60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0003330	HP:0002753	Thin bony cortex	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003330	HP:0004331	Decreased skull ossification	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult			126
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0003330	HP:0004331	Decreased skull ossification	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0003330	HP:0004331	Decreased skull ossification	2	ALX4 CL E G H	60529	450	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		132
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent		34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0003330	HP:0100039	Thickened cortex of bones	2	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome			65
HP:0003330	HP:0004331	Decreased skull ossification	2	ANTXR1 CL E G H	84168	21014	ORPHA:2067	GAPO syndrome	HP:0040283 - Occasional		8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type			22
HP:0003330	HP:0012065	Multiple bony cystic lesions	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0003330	HP:0000905	Progressive clavicular acroosteolysis	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0003330	HP:0034046	Mandibular osteolysis	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0034047	Rib osteolysis	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0003330	HP:0004331	Decreased skull ossification	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BMS1 CL E G H	9790	23505	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0003330	HP:0002833	Cystic angiomatosis of bone	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia			272
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003330	HP:0002753	Thin bony cortex	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		342
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		515
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome			515
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0002752	Sparse bone trabeculae	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0003330	HP:0002753	Thin bony cortex	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0002752	Sparse bone trabeculae	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003330	HP:0002753	Thin bony cortex	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040281 - Very frequent		102
HP:0003330	HP:0005652	Cortical sclerosis	2	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0003330	HP:0100039	Thickened cortex of bones	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0003330	HP:0005731	Cortical irregularity	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.		373
HP:0003330	HP:0005731	Cortical irregularity	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040281 - Very frequent		373
HP:0003330	HP:0006465	Periosteal thickening of long tubular bones	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease	.		373
HP:0003330	HP:0006465	Periosteal thickening of long tubular bones	2	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040282 - Frequent		373
HP:0003330	HP:0031485	Subperiosteal bone formation	2	COL1A1 CL E G H	1277	2197	OMIM:114000	Caffey disease			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0003330	HP:0004331	Decreased skull ossification	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0003330	HP:0004331	Decreased skull ossification	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS			373
HP:0003330	HP:0004331	Decreased skull ossification	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0003330	HP:0004331	Decreased skull ossification	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS			243
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003330	HP:0004331	Decreased skull ossification	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			284
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0004331	Decreased skull ossification	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0003330	HP:0004331	Decreased skull ossification	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		160
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy			88
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTNND2 CL E G H	1501	2516	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional		15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency			53
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0002752	Sparse bone trabeculae	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0003330	HP:0002753	Thin bony cortex	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0002752	Sparse bone trabeculae	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0003330	HP:0002753	Thin bony cortex	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0002752	Sparse bone trabeculae	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0003330	HP:0002753	Thin bony cortex	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0002752	Sparse bone trabeculae	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0003330	HP:0002753	Thin bony cortex	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome			36
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DLL4 CL E G H	54567	2910	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome			48
HP:0003330	HP:0100036	Pseudo-fractures	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0003330	HP:0100036	Pseudo-fractures	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040282 - Frequent		151
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0003330	HP:0004331	Decreased skull ossification	2	EXT2 CL E G H	2132	3513	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		102
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0003330	HP:0100039	Thickened cortex of bones	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0004331	Decreased skull ossification	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0004331	Decreased skull ossification	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	HP:0040283 - Occasional		8
HP:0003330	HP:0100039	Thickened cortex of bones	2	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003330	HP:0031485	Subperiosteal bone formation	2	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0003330	HP:0002753	Thin bony cortex	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003330	HP:0002753	Thin bony cortex	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome			17
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome			172
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0004331	Decreased skull ossification	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0003330	HP:0004331	Decreased skull ossification	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0003330	HP:0004331	Decreased skull ossification	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1			493
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia			493
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1			50
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy			109
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003330	HP:0031485	Subperiosteal bone formation	2	GALNT3 CL E G H	2591	4125	OMIM:211900	Tumoral calcinosis, hyperphosphatemic, familial, 1	.		46
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4			51
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1			129
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0003330	HP:0002753	Thin bony cortex	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0003330	HP:0004059	Radial club hand	2	GLI3 CL E G H	2737	4319	ORPHA:93322	Tibial hemimelia	HP:0040283 - Occasional		270
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia			16
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita			16
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0003330	HP:0010735	Polyostotic fibrous dysplasia	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0003330	HP:0010736	Monostotic fibrous dysplasia	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent		101
HP:0003330	HP:0012063	Aneurysmal bone cyst	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare		101
HP:0003330	HP:0010735	Polyostotic fibrous dysplasia	2	GNAS CL E G H	2778	4392	OMIM:174800	McCune-Albright syndrome, somatic, mosaic	.		101
HP:0003330	HP:0011986	Ectopic ossification	2	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A			101
HP:0003330	HP:0011986	Ectopic ossification	2	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C			101
HP:0003330	HP:0011986	Ectopic ossification	2	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040282 - Frequent		101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003330	HP:0011986	Ectopic ossification	2	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003330	HP:0011986	Ectopic ossification	2	GNAS CL E G H	2778	4392	ORPHA:79445	Pseudopseudohypoparathyroidism	HP:0040282 - Frequent		101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0003330	HP:0004331	Decreased skull ossification	2	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome			21
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0003330	HP:0004331	Decreased skull ossification	2	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0040165	Periostitis	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0003330	HP:0004331	Decreased skull ossification	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		106
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		61
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ITGB4 CL E G H	3691	6158	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		124
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia			14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0006051	Metacarpal periosteal thickening	2	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003330	HP:0004331	Decreased skull ossification	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0004331	Decreased skull ossification	2	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040282 - Frequent		70
HP:0003330	HP:0004331	Decreased skull ossification	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0011986	Ectopic ossification	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003330	HP:0100039	Thickened cortex of bones	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003330	HP:0100039	Thickened cortex of bones	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003330	HP:0000905	Progressive clavicular acroosteolysis	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0000905	Progressive clavicular acroosteolysis	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0003330	HP:0000905	Progressive clavicular acroosteolysis	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0004331	Decreased skull ossification	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome			165
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis			124
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0003330	HP:0100039	Thickened cortex of bones	2	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0100039	Thickened cortex of bones	2	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0003330	HP:0100039	Thickened cortex of bones	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated			134
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome	.		2
HP:0003330	HP:0002753	Thin bony cortex	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0004331	Decreased skull ossification	2	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040283 - Occasional		97
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003330	HP:0100039	Thickened cortex of bones	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome			40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		27
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		17
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0003330	HP:0004331	Decreased skull ossification	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		85
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		157
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		220
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		12
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type			53
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0011986	Ectopic ossification	2	NT5E CL E G H	4907	8021	OMIM:211800	Calcification of joints and arteries	.		3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0003330	HP:0030328	Decreased osteoclast count	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0003330	HP:0003784	Type 1 collagen overmodification	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0003330	HP:0004331	Decreased skull ossification	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003330	HP:0004331	Decreased skull ossification	2	PHF21A CL E G H	51317	24156	ORPHA:52022	Potocki-Shaffer syndrome	HP:0040281 - Very frequent		2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLEC CL E G H	5339	9069	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional		759
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040281 - Very frequent		2
HP:0003330	HP:0005652	Cortical sclerosis	2	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B			31
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		38
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		31
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040281 - Very frequent		20
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004331	Decreased skull ossification	2	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003330	HP:0002753	Thin bony cortex	2	PRKG2 CL E G H	5593	9416	OMIM:619638	SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE; SMDP
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome			948
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0002753	Thin bony cortex	2	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		77
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003330	HP:0004331	Decreased skull ossification	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent		90
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0003330	HP:0004059	Radial club hand	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040282 - Frequent		86
HP:0003330	HP:0004059	Radial club hand	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.		8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		61
HP:0003330	HP:0004331	Decreased skull ossification	2	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent		2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome			14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional		16
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SEMA5A CL E G H	9037	10736	ORPHA:281	Monosomy 5p	HP:0040283 - Occasional		6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003330	HP:0100039	Thickened cortex of bones	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0003330	HP:0002753	Thin bony cortex	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003330	HP:0005731	Cortical irregularity	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.		134
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0003330	HP:0004331	Decreased skull ossification	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional		36
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0003330	HP:0004331	Decreased skull ossification	2	SLC25A24 CL E G H	29957	20662	ORPHA:2963	Progeroid syndrome, Petty type	HP:0040281 - Very frequent
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia			166
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1			47
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0003330	HP:0002752	Sparse bone trabeculae	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0003330	HP:0002753	Thin bony cortex	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0003330	HP:0006465	Periosteal thickening of long tubular bones	2	SLCO2A1 CL E G H	6578	10955	OMIM:167100	Hypertrophic osteoarthropathy, primary, autosomal dominant			13
HP:0003330	HP:0030314	Periostosis	2	SLCO2A1 CL E G H	6578	10955	OMIM:614441	Hypertrophic osteoarthropathy, primary, autosomal recessive 2	.		13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0003330	HP:0002753	Thin bony cortex	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0003330	HP:0005652	Cortical sclerosis	2	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis			26
HP:0003330	HP:0100039	Thickened cortex of bones	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome			61
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome			110
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0003330	HP:0004331	Decreased skull ossification	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0100039	Thickened cortex of bones	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0004331	Decreased skull ossification	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0003330	HP:0004331	Decreased skull ossification	2	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia			16
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040281 - Very frequent		82
HP:0003330	HP:0005652	Cortical sclerosis	2	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040281 - Very frequent		140
HP:0003330	HP:0002753	Thin bony cortex	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		238
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003330	HP:0100039	Thickened cortex of bones	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0100039	Thickened cortex of bones	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003330	HP:0004331	Decreased skull ossification	2	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040283 - Occasional		23
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0003330	HP:0002753	Thin bony cortex	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0003330	HP:0002753	Thin bony cortex	2	TNFRSF11A CL E G H	8792	11908	OMIM:174810	Familial expansile osteolysis	.		72
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		44
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0030328	Decreased osteoclast count	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		6
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0003330	HP:0100039	Thickened cortex of bones	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0003330	HP:0004331	Decreased skull ossification	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040281 - Very frequent		214
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040282 - Frequent		214
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy			39
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0003330	HP:0004331	Decreased skull ossification	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UBA2 CL E G H	10054	30661	ORPHA:1114	Aplasia cutis congenita	HP:0040283 - Occasional
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent		2
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0003330	HP:0004331	Decreased skull ossification	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0003330	HP:0002752	Sparse bone trabeculae	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0003330	HP:0002753	Thin bony cortex	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome			10
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		95
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0004331	Decreased skull ossification	2	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency			13
HP:0003330	HP:0100670	Coarse metaphyseal trabecularization	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040282 - Frequent		40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0003330	HP:0003336	Abnormal enchondral ossification	2	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0003330	HP:0002753	Thin bony cortex	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0003330	HP:0000905	Progressive clavicular acroosteolysis	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0000905	Progressive clavicular acroosteolysis	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009139	Osteolysis involving bones of the lower limbs	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0004331	Decreased skull ossification	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003330	HP:0004331	Decreased skull ossification	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0045039	Osteolysis involving bones of the upper limbs	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy			14
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003330	HP:0004348	Abnormality of bone mineral density	2	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003837	Soft-tissue ossification around the shoulders	3	CL E G H
HP:0003330	HP:0003867	Humeral cortical irregularity	3	CL E G H
HP:0003330	HP:0003868	Humeral cortical thickening	3	CL E G H
HP:0003330	HP:0003869	Humeral cortical thinning	3	CL E G H
HP:0003330	HP:0003878	Periosteal new bone of humerus	3	CL E G H
HP:0003330	HP:0003931	Periosteal new bone of humeral diaphysis	3	CL E G H
HP:0003330	HP:0004020	Irregular ossification of the radial metaphysis	3	CL E G H
HP:0003330	HP:0004043	Lytic defects of ulnar metaphysis	3	CL E G H
HP:0003330	HP:0004271	Cortical thickening of hand bones	3	CL E G H
HP:0003330	HP:0004272	Cortical thinning of hand bones	3	CL E G H
HP:0003330	HP:0006378	Osteolysis of patellae	3	CL E G H
HP:0003330	HP:0006607	Precocious costochondral ossification	3	CL E G H
HP:0003330	HP:0025333	Cortical thinning of foot bones	3	CL E G H
HP:0003330	HP:0004349	Reduced bone mineral density	3	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0003330	HP:0004349	Reduced bone mineral density	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0004349	Reduced bone mineral density	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0003330	HP:0004349	Reduced bone mineral density	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0003330	HP:0011001	Increased bone mineral density	3	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0003330	HP:0011987	Ectopic ossification in muscle tissue	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent		49
HP:0003330	HP:0011987	Ectopic ossification in muscle tissue	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0003330	HP:0011988	Ectopic ossification in tendon tissue	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0003330	HP:0011989	Ectopic ossification in ligament tissue	3	ACVR1 CL E G H	90	171	ORPHA:337	Fibrodysplasia ossificans progressiva	HP:0040281 - Very frequent		49
HP:0003330	HP:0011989	Ectopic ossification in ligament tissue	3	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.		49
HP:0003330	HP:0004349	Reduced bone mineral density	3	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			165
HP:0003330	HP:0004349	Reduced bone mineral density	3	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0003330	HP:0004349	Reduced bone mineral density	3	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome			72
HP:0003330	HP:0004349	Reduced bone mineral density	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0003330	HP:0004349	Reduced bone mineral density	3	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0003330	HP:0004349	Reduced bone mineral density	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003330	HP:0004349	Reduced bone mineral density	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3			117
HP:0003330	HP:0011001	Increased bone mineral density	3	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.		260
HP:0003330	HP:0004349	Reduced bone mineral density	3	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent		60
HP:0003330	HP:0004349	Reduced bone mineral density	3	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			95
HP:0003330	HP:0004349	Reduced bone mineral density	3	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma			95
HP:0003330	HP:0004349	Reduced bone mineral density	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0003330	HP:0004349	Reduced bone mineral density	3	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003330	HP:0004349	Reduced bone mineral density	3	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003330	HP:0004349	Reduced bone mineral density	3	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3			89
HP:0003330	HP:0004349	Reduced bone mineral density	3	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0003330	HP:0004349	Reduced bone mineral density	3	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult			126
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0003330	HP:0005474	Decreased calvarial ossification	3	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0003330	HP:0011001	Increased bone mineral density	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0003330	HP:0011001	Increased bone mineral density	3	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent		34
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0003330	HP:0011001	Increased bone mineral density	3	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia			164
HP:0003330	HP:0011001	Increased bone mineral density	3	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0003330	HP:0000935	Thickened cortex of long bones	3	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040281 - Very frequent		304
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0011001	Increased bone mineral density	3	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANOS1 CL E G H	3730	6211	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		65
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome			49
HP:0003330	HP:0004349	Reduced bone mineral density	3	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis			49
HP:0003330	HP:0004349	Reduced bone mineral density	3	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive
HP:0003330	HP:0004349	Reduced bone mineral density	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0004349	Reduced bone mineral density	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0003330	HP:0004349	Reduced bone mineral density	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0003330	HP:0004349	Reduced bone mineral density	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease			192
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome			192
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0003330	HP:0004349	Reduced bone mineral density	3	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease			169
HP:0003330	HP:0004349	Reduced bone mineral density	3	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type			22
HP:0003330	HP:0004349	Reduced bone mineral density	3	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome			29
HP:0003330	HP:0004349	Reduced bone mineral density	3	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003330	HP:0004349	Reduced bone mineral density	3	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0004349	Reduced bone mineral density	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII			49
HP:0003330	HP:0011001	Increased bone mineral density	3	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0003330	HP:0004349	Reduced bone mineral density	3	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		16
HP:0003330	HP:0004349	Reduced bone mineral density	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis			78
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0012306	Abnormal rib ossification	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0004349	Reduced bone mineral density	3	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0003330	HP:0004349	Reduced bone mineral density	3	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease			276
HP:0003330	HP:0004349	Reduced bone mineral density	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0003330	HP:0004349	Reduced bone mineral density	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0003330	HP:0004349	Reduced bone mineral density	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0003330	HP:0004349	Reduced bone mineral density	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0011001	Increased bone mineral density	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0003330	HP:0011001	Increased bone mineral density	3	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0003330	HP:0004349	Reduced bone mineral density	3	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0003330	HP:0004349	Reduced bone mineral density	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0011001	Increased bone mineral density	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	CASR CL E G H	846	1514	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional		272
HP:0003330	HP:0004349	Reduced bone mineral density	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0003330	HP:0004349	Reduced bone mineral density	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0003330	HP:0004349	Reduced bone mineral density	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0003330	HP:0004349	Reduced bone mineral density	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0003330	HP:0004349	Reduced bone mineral density	3	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22
HP:0003330	HP:0004349	Reduced bone mineral density	3	CCDC141 CL E G H	285025	26821	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood
HP:0003330	HP:0004349	Reduced bone mineral density	3	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003330	HP:0004349	Reduced bone mineral density	3	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0003330	HP:0011863	Abnormal sternal ossification	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease			636
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma			636
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004349	Reduced bone mineral density	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0003330	HP:0004349	Reduced bone mineral density	3	CHD7 CL E G H	55636	20626	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		515
HP:0003330	HP:0004349	Reduced bone mineral density	3	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			515
HP:0003330	HP:0004349	Reduced bone mineral density	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0003330	HP:0004349	Reduced bone mineral density	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0004349	Reduced bone mineral density	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004349	Reduced bone mineral density	3	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1			112
HP:0003330	HP:0004349	Reduced bone mineral density	3	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive			112
HP:0003330	HP:0011001	Increased bone mineral density	3	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0003330	HP:0004349	Reduced bone mineral density	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0003330	HP:0011001	Increased bone mineral density	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0003330	HP:0011001	Increased bone mineral density	3	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0003330	HP:0011001	Increased bone mineral density	3	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2			102
HP:0003330	HP:0011001	Increased bone mineral density	3	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0003330	HP:0004349	Reduced bone mineral density	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0003330	HP:0004349	Reduced bone mineral density	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0003330	HP:0012306	Abnormal rib ossification	3	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type			79
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0003330	HP:0000935	Thickened cortex of long bones	3	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease			373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0003330	HP:0005474	Decreased calvarial ossification	3	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0005474	Decreased calvarial ossification	3	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	OMIM:166220	Osteogenesis imperfecta, type IV			373
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS			373
HP:0003330	HP:0005474	Decreased calvarial ossification	3	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0005474	Decreased calvarial ossification	3	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A2 CL E G H	1278	2198	OMIM:166220	Osteogenesis imperfecta, type IV			243
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS			243
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0003330	HP:0006454	Delayed patellar ossification	3	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional		284
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia			284
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia			284
HP:0003330	HP:0005451	Decreased cranial base ossification	3	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type	.		284
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040282 - Frequent		284
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040283 - Occasional		284
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		284
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0003330	HP:0004349	Reduced bone mineral density	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy			137
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1			89
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1			89
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040283 - Occasional		89
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia			89
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0003330	HP:0004349	Reduced bone mineral density	3	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0003330	HP:0004349	Reduced bone mineral density	3	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0003330	HP:0011863	Abnormal sternal ossification	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0003330	HP:0005474	Decreased calvarial ossification	3	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI			4
HP:0003330	HP:0004349	Reduced bone mineral density	3	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0003330	HP:0004349	Reduced bone mineral density	3	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0003330	HP:0005474	Decreased calvarial ossification	3	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0003330	HP:0011001	Increased bone mineral density	3	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			57
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0011863	Abnormal sternal ossification	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts			160
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome			17
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		88
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type			178
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0003330	HP:0004349	Reduced bone mineral density	3	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis			178
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome			50
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0011001	Increased bone mineral density	3	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.		39
HP:0003330	HP:0011001	Increased bone mineral density	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			41
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A			41
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome			87
HP:0003330	HP:0004349	Reduced bone mineral density	3	DCC CL E G H	1630	2701	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		36
HP:0003330	HP:0004349	Reduced bone mineral density	3	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome			27
HP:0003330	HP:0004349	Reduced bone mineral density	3	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1			27
HP:0003330	HP:0004349	Reduced bone mineral density	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004349	Reduced bone mineral density	3	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0003330	HP:0004349	Reduced bone mineral density	3	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003330	HP:0004349	Reduced bone mineral density	3	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0003330	HP:0011001	Increased bone mineral density	3	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003330	HP:0011001	Increased bone mineral density	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0003330	HP:0004349	Reduced bone mineral density	3	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0003330	HP:0004349	Reduced bone mineral density	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0003330	HP:0004349	Reduced bone mineral density	3	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0011001	Increased bone mineral density	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0011001	Increased bone mineral density	3	DLX3 CL E G H	1747	2916	ORPHA:3352	Tricho-dento-osseous syndrome	HP:0040282 - Frequent		48
HP:0003330	HP:0011001	Increased bone mineral density	3	DLX3 CL E G H	1747	2916	OMIM:190320	Trichodentoosseous syndrome	.		48
HP:0003330	HP:0004349	Reduced bone mineral density	3	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003330	HP:0011001	Increased bone mineral density	3	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0003330	HP:0004349	Reduced bone mineral density	3	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive			48
HP:0003330	HP:0011001	Increased bone mineral density	3	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.		48
HP:0003330	HP:0004349	Reduced bone mineral density	3	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0003330	HP:0004349	Reduced bone mineral density	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0003330	HP:0012306	Abnormal rib ossification	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003330	HP:0004349	Reduced bone mineral density	3	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia			4
HP:0003330	HP:0004349	Reduced bone mineral density	3	DUSP6 CL E G H	1848	3072	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		4
HP:0003330	HP:0004349	Reduced bone mineral density	3	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			4
HP:0003330	HP:0011001	Increased bone mineral density	3	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0012791	Abnormal humeral ossification	3	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1			65
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		304
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent
HP:0003330	HP:0009132	Abnormal tarsal bone mineral density	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0011001	Increased bone mineral density	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0012306	Abnormal rib ossification	3	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0004349	Reduced bone mineral density	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome			4
HP:0003330	HP:0004349	Reduced bone mineral density	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0011001	Increased bone mineral density	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0004349	Reduced bone mineral density	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia			79
HP:0003330	HP:0004349	Reduced bone mineral density	3	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003330	HP:0004349	Reduced bone mineral density	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0003330	HP:0011001	Increased bone mineral density	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0003330	HP:0004349	Reduced bone mineral density	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003330	HP:0004349	Reduced bone mineral density	3	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0003330	HP:0004349	Reduced bone mineral density	3	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003330	HP:0011001	Increased bone mineral density	3	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0003330	HP:0004349	Reduced bone mineral density	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0004349	Reduced bone mineral density	3	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0003330	HP:0004349	Reduced bone mineral density	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0003330	HP:0011001	Increased bone mineral density	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0003330	HP:0004349	Reduced bone mineral density	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0003330	HP:0011001	Increased bone mineral density	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0003330	HP:0004349	Reduced bone mineral density	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0003330	HP:0004349	Reduced bone mineral density	3	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1			199
HP:0003330	HP:0004349	Reduced bone mineral density	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0011001	Increased bone mineral density	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0011001	Increased bone mineral density	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003330	HP:0004349	Reduced bone mineral density	3	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040281 - Very frequent		102
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0003330	HP:0004349	Reduced bone mineral density	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0003330	HP:0000935	Thickened cortex of long bones	3	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0011001	Increased bone mineral density	3	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0000935	Thickened cortex of long bones	3	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0003330	HP:0011001	Increased bone mineral density	3	FAM111A CL E G H	63901	24725	OMIM:127000	Kenny-caffey syndrome, type 2	.		8
HP:0003330	HP:0011001	Increased bone mineral density	3	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	.	HP:0003623 - Neonatal onset	35
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0003330	HP:0004349	Reduced bone mineral density	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0003330	HP:0004349	Reduced bone mineral density	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0004349	Reduced bone mineral density	3	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome			114
HP:0003330	HP:0004349	Reduced bone mineral density	3	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003330	HP:0004349	Reduced bone mineral density	3	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2			114
HP:0003330	HP:0004349	Reduced bone mineral density	3	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0003330	HP:0004349	Reduced bone mineral density	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0003330	HP:0011001	Increased bone mineral density	3	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0003330	HP:0004349	Reduced bone mineral density	3	FEZF1 CL E G H	389549	22788	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF17 CL E G H	8822	3673	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		3
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets			51
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant			51
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF8 CL E G H	2253	3686	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		17
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			17
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia			172
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGFR1 CL E G H	2260	3688	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		172
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			172
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0003330	HP:0004349	Reduced bone mineral density	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0005474	Decreased calvarial ossification	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0011863	Abnormal sternal ossification	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0003330	HP:0005474	Decreased calvarial ossification	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0011863	Abnormal sternal ossification	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0003330	HP:0011863	Abnormal sternal ossification	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0004349	Reduced bone mineral density	3	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome			61
HP:0003330	HP:0004349	Reduced bone mineral density	3	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1			61
HP:0003330	HP:0004349	Reduced bone mineral density	3	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI			61
HP:0003330	HP:0004349	Reduced bone mineral density	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0011001	Increased bone mineral density	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003330	HP:0011001	Increased bone mineral density	3	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia			493
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0003330	HP:0011001	Increased bone mineral density	3	FLNA CL E G H	2316	3754	ORPHA:90650	Otopalatodigital syndrome type 1	HP:0040282 - Frequent		493
HP:0003330	HP:0011001	Increased bone mineral density	3	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0011001	Increased bone mineral density	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	FLNA CL E G H	2316	3754	OMIM:300244	Terminal osseous dysplasia	.		493
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent		233
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0012791	Abnormal humeral ossification	3	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent		233
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0003330	HP:0004349	Reduced bone mineral density	3	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia			4
HP:0003330	HP:0004349	Reduced bone mineral density	3	FLRT3 CL E G H	23767	3762	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		4
HP:0003330	HP:0004349	Reduced bone mineral density	3	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040284 - Very rare		9
HP:0003330	HP:0004349	Reduced bone mineral density	3	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003330	HP:0004349	Reduced bone mineral density	3	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		50
HP:0003330	HP:0004349	Reduced bone mineral density	3	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1			50
HP:0003330	HP:0004349	Reduced bone mineral density	3	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		109
HP:0003330	HP:0004349	Reduced bone mineral density	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0003330	HP:0004349	Reduced bone mineral density	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0003330	HP:0004349	Reduced bone mineral density	3	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0003330	HP:0004349	Reduced bone mineral density	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0003330	HP:0004349	Reduced bone mineral density	3	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis			87
HP:0003330	HP:0004349	Reduced bone mineral density	3	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1			86
HP:0003330	HP:0004349	Reduced bone mineral density	3	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0003330	HP:0004349	Reduced bone mineral density	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0003330	HP:0011001	Increased bone mineral density	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0003330	HP:0011001	Increased bone mineral density	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003330	HP:0004349	Reduced bone mineral density	3	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4			51
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0004349	Reduced bone mineral density	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia			56
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1			129
HP:0003330	HP:0011001	Increased bone mineral density	3	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia			68
HP:0003330	HP:0010658	Patchy changes of bone mineral density	3	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0011001	Increased bone mineral density	3	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003330	HP:0004349	Reduced bone mineral density	3	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0003330	HP:0004349	Reduced bone mineral density	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0003330	HP:0004349	Reduced bone mineral density	3	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0003330	HP:0004349	Reduced bone mineral density	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNA11 CL E G H	2767	4379	ORPHA:428	Autosomal dominant hypocalcemia	HP:0040283 - Occasional		16
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional		16
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0003330	HP:0011987	Ectopic ossification in muscle tissue	3	GNAS CL E G H	2778	4392	ORPHA:2762	Progressive osseous heteroplasia	HP:0040282 - Frequent		101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040283 - Occasional		101
HP:0003330	HP:0011001	Increased bone mineral density	3	GNAS CL E G H	2778	4392	ORPHA:79443	Pseudohypoparathyroidism type 1A	HP:0040282 - Frequent		101
HP:0003330	HP:0011001	Increased bone mineral density	3	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0003330	HP:0011001	Increased bone mineral density	3	GNAS CL E G H	2778	4392	ORPHA:79444	Pseudohypoparathyroidism type 1C	HP:0040283 - Occasional		101
HP:0003330	HP:0034282	Subcutaneous ossification	3	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2			58
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			15
HP:0003330	HP:0004349	Reduced bone mineral density	3	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			92
HP:0003330	HP:0004349	Reduced bone mineral density	3	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica			52
HP:0003330	HP:0004349	Reduced bone mineral density	3	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum			52
HP:0003330	HP:0004349	Reduced bone mineral density	3	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003330	HP:0004349	Reduced bone mineral density	3	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003330	HP:0004349	Reduced bone mineral density	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0003330	HP:0011001	Increased bone mineral density	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0011001	Increased bone mineral density	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003330	HP:0004349	Reduced bone mineral density	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011001	Increased bone mineral density	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011001	Increased bone mineral density	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011001	Increased bone mineral density	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0003330	HP:0004349	Reduced bone mineral density	3	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia
HP:0003330	HP:0004349	Reduced bone mineral density	3	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0003330	HP:0004349	Reduced bone mineral density	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent		580
HP:0003330	HP:0004349	Reduced bone mineral density	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0003330	HP:0004349	Reduced bone mineral density	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0003330	HP:0004349	Reduced bone mineral density	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0003330	HP:0004349	Reduced bone mineral density	3	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0003330	HP:0004349	Reduced bone mineral density	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003330	HP:0004349	Reduced bone mineral density	3	HESX1 CL E G H	8820	4877	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		21
HP:0003330	HP:0004349	Reduced bone mineral density	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040283 - Occasional		77
HP:0003330	HP:0011001	Increased bone mineral density	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0003330	HP:0011001	Increased bone mineral density	3	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome
HP:0003330	HP:0004349	Reduced bone mineral density	3	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0003330	HP:0004349	Reduced bone mineral density	3	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0004349	Reduced bone mineral density	3	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1
HP:0003330	HP:0011001	Increased bone mineral density	3	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0003330	HP:0004349	Reduced bone mineral density	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0003330	HP:0004349	Reduced bone mineral density	3	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003330	HP:0004349	Reduced bone mineral density	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0003330	HP:0004349	Reduced bone mineral density	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0004349	Reduced bone mineral density	3	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1			55
HP:0003330	HP:0004349	Reduced bone mineral density	3	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0003330	HP:0004349	Reduced bone mineral density	3	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0003330	HP:0004349	Reduced bone mineral density	3	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0003330	HP:0004349	Reduced bone mineral density	3	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0003330	HP:0004349	Reduced bone mineral density	3	HS6ST1 CL E G H	9394	5201	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		8
HP:0003330	HP:0004349	Reduced bone mineral density	3	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			8
HP:0003330	HP:0004349	Reduced bone mineral density	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0003330	HP:0004349	Reduced bone mineral density	3	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1			98
HP:0003330	HP:0004349	Reduced bone mineral density	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0003330	HP:0004349	Reduced bone mineral density	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003330	HP:0004349	Reduced bone mineral density	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0003330	HP:0011001	Increased bone mineral density	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0003330	HP:0004349	Reduced bone mineral density	3	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1			345
HP:0003330	HP:0004349	Reduced bone mineral density	3	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0004349	Reduced bone mineral density	3	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V			8
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia			93
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia			11
HP:0003330	HP:0005474	Decreased calvarial ossification	3	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0003330	HP:0004349	Reduced bone mineral density	3	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia			4
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		65
HP:0003330	HP:0004349	Reduced bone mineral density	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0003330	HP:0004349	Reduced bone mineral density	3	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency			91
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0003330	HP:0004349	Reduced bone mineral density	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004349	Reduced bone mineral density	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0003330	HP:0004349	Reduced bone mineral density	3	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia			9
HP:0003330	HP:0004349	Reduced bone mineral density	3	IL17RD CL E G H	54756	17616	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		9
HP:0003330	HP:0004349	Reduced bone mineral density	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040281 - Very frequent		18
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0003330	HP:0005474	Decreased calvarial ossification	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0003330	HP:0004349	Reduced bone mineral density	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004349	Reduced bone mineral density	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0003330	HP:0004349	Reduced bone mineral density	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0003330	HP:0004349	Reduced bone mineral density	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0003330	HP:0004349	Reduced bone mineral density	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy			24
HP:0003330	HP:0004349	Reduced bone mineral density	3	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0006454	Delayed patellar ossification	3	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations			14
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type			167
HP:0003330	HP:0004349	Reduced bone mineral density	3	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia			14
HP:0003330	HP:0004349	Reduced bone mineral density	3	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			14
HP:0003330	HP:0004349	Reduced bone mineral density	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0003330	HP:0004349	Reduced bone mineral density	3	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0011001	Increased bone mineral density	3	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0004349	Reduced bone mineral density	3	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0003330	HP:0004349	Reduced bone mineral density	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0003330	HP:0004349	Reduced bone mineral density	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0005474	Decreased calvarial ossification	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0004349	Reduced bone mineral density	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0003330	HP:0004349	Reduced bone mineral density	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0003330	HP:0004349	Reduced bone mineral density	3	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0004349	Reduced bone mineral density	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0010658	Patchy changes of bone mineral density	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0011001	Increased bone mineral density	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0012306	Abnormal rib ossification	3	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0003330	HP:0012306	Abnormal rib ossification	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0004349	Reduced bone mineral density	3	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0003330	HP:0011001	Increased bone mineral density	3	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0003330	HP:0011001	Increased bone mineral density	3	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0011001	Increased bone mineral density	3	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome			68
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0009132	Abnormal tarsal bone mineral density	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0011001	Increased bone mineral density	3	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0011001	Increased bone mineral density	3	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis			68
HP:0003330	HP:0004349	Reduced bone mineral density	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0003330	HP:0011863	Abnormal sternal ossification	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive			13
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003330	HP:0004349	Reduced bone mineral density	3	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003330	HP:0000935	Thickened cortex of long bones	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040281 - Very frequent		144
HP:0003330	HP:0004349	Reduced bone mineral density	3	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0003330	HP:0000935	Thickened cortex of long bones	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003330	HP:0004349	Reduced bone mineral density	3	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0003330	HP:0004349	Reduced bone mineral density	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0003330	HP:0011001	Increased bone mineral density	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040283 - Occasional		645
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0003330	HP:0004349	Reduced bone mineral density	3	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003330	HP:0011001	Increased bone mineral density	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0003330	HP:0011001	Increased bone mineral density	3	LRP4 CL E G H	4038	6696	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		124
HP:0003330	HP:0011001	Increased bone mineral density	3	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type			125
HP:0003330	HP:0004349	Reduced bone mineral density	3	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4			125
HP:0003330	HP:0004349	Reduced bone mineral density	3	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		125
HP:0003330	HP:0011001	Increased bone mineral density	3	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata			125
HP:0003330	HP:0000935	Thickened cortex of long bones	3	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0003330	HP:0011001	Increased bone mineral density	3	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0000935	Thickened cortex of long bones	3	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0011001	Increased bone mineral density	3	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0004349	Reduced bone mineral density	3	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS			125
HP:0003330	HP:0004349	Reduced bone mineral density	3	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome			125
HP:0003330	HP:0004349	Reduced bone mineral density	3	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0003330	HP:0011001	Increased bone mineral density	3	LRP5 CL E G H	4041	6697	ORPHA:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	HP:0040281 - Very frequent		125
HP:0003330	HP:0004349	Reduced bone mineral density	3	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2			26
HP:0003330	HP:0011001	Increased bone mineral density	3	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	.		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0003330	HP:0001495	Carpal osteolysis	3	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent		63
HP:0003330	HP:0001504	Metacarpal osteolysis	3	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040281 - Very frequent		63
HP:0003330	HP:0001495	Carpal osteolysis	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0003330	HP:0001504	Metacarpal osteolysis	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0003330	HP:0000935	Thickened cortex of long bones	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0003330	HP:0011001	Increased bone mineral density	3	MAP2K1 CL E G H	5604	6840	OMIM:155950	Melorheostosis, isolated	.		134
HP:0003330	HP:0004349	Reduced bone mineral density	3	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis			13
HP:0003330	HP:0011001	Increased bone mineral density	3	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia			11
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0003330	HP:0004349	Reduced bone mineral density	3	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX			22
HP:0003330	HP:0011001	Increased bone mineral density	3	MC4R CL E G H	4160	6932	OMIM:618406	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; BMIQ20			54
HP:0003330	HP:0004349	Reduced bone mineral density	3	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0011001	Increased bone mineral density	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003330	HP:0004349	Reduced bone mineral density	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0003330	HP:0004349	Reduced bone mineral density	3	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma			462
HP:0003330	HP:0004349	Reduced bone mineral density	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011001	Increased bone mineral density	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0003330	HP:0004349	Reduced bone mineral density	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0003330	HP:0012306	Abnormal rib ossification	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0003330	HP:0004349	Reduced bone mineral density	3	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003330	HP:0004349	Reduced bone mineral density	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0003330	HP:0011001	Increased bone mineral density	3	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness			91
HP:0003330	HP:0004349	Reduced bone mineral density	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004349	Reduced bone mineral density	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0003330	HP:0011001	Increased bone mineral density	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMP13 CL E G H	4322	7159	ORPHA:2501	Metaphyseal chondrodysplasia, Spahr type	HP:0040281 - Very frequent		52
HP:0003330	HP:0001495	Carpal osteolysis	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0003330	HP:0001495	Carpal osteolysis	3	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome	.		2
HP:0003330	HP:0001495	Carpal osteolysis	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0001504	Metacarpal osteolysis	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0001495	Carpal osteolysis	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0004349	Reduced bone mineral density	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0003330	HP:0004349	Reduced bone mineral density	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0003330	HP:0011001	Increased bone mineral density	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0003330	HP:0004349	Reduced bone mineral density	3	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		25
HP:0003330	HP:0004349	Reduced bone mineral density	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0010658	Patchy changes of bone mineral density	3	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0011001	Increased bone mineral density	3	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0004349	Reduced bone mineral density	3	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0003330	HP:0004349	Reduced bone mineral density	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0003330	HP:0004349	Reduced bone mineral density	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0004349	Reduced bone mineral density	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003330	HP:0004349	Reduced bone mineral density	3	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0003330	HP:0004349	Reduced bone mineral density	3	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I			47
HP:0003330	HP:0011001	Increased bone mineral density	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0003330	HP:0004349	Reduced bone mineral density	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0003330	HP:0011001	Increased bone mineral density	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDNF CL E G H	79625	26256	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003330	HP:0004349	Reduced bone mineral density	3	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0003330	HP:0004349	Reduced bone mineral density	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0003330	HP:0000935	Thickened cortex of long bones	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0003330	HP:0004349	Reduced bone mineral density	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0003330	HP:0004349	Reduced bone mineral density	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0003330	HP:0004349	Reduced bone mineral density	3	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040282 - Frequent		40
HP:0003330	HP:0011863	Abnormal sternal ossification	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0003330	HP:0004349	Reduced bone mineral density	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003330	HP:0009132	Abnormal tarsal bone mineral density	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0011001	Increased bone mineral density	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0004349	Reduced bone mineral density	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0003330	HP:0004349	Reduced bone mineral density	3	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2
HP:0003330	HP:0004349	Reduced bone mineral density	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0003330	HP:0004349	Reduced bone mineral density	3	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003330	HP:0004349	Reduced bone mineral density	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0003330	HP:0004349	Reduced bone mineral density	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0003330	HP:0004349	Reduced bone mineral density	3	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0003330	HP:0004349	Reduced bone mineral density	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0004349	Reduced bone mineral density	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0011001	Increased bone mineral density	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0003330	HP:0004349	Reduced bone mineral density	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0003330	HP:0004349	Reduced bone mineral density	3	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type			53
HP:0003330	HP:0004349	Reduced bone mineral density	3	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis			48
HP:0003330	HP:0004349	Reduced bone mineral density	3	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease			79
HP:0003330	HP:0004349	Reduced bone mineral density	3	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0003330	HP:0004349	Reduced bone mineral density	3	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis			38
HP:0003330	HP:0004349	Reduced bone mineral density	3	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0003330	HP:0004349	Reduced bone mineral density	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0003330	HP:0011863	Abnormal sternal ossification	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		5
HP:0003330	HP:0004349	Reduced bone mineral density	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0003330	HP:0004349	Reduced bone mineral density	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0003330	HP:0004349	Reduced bone mineral density	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0003330	HP:0004349	Reduced bone mineral density	3	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome			88
HP:0003330	HP:0004349	Reduced bone mineral density	3	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe			88
HP:0003330	HP:0004349	Reduced bone mineral density	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040282 - Frequent		201
HP:0003330	HP:0011863	Abnormal sternal ossification	3	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0003330	HP:0011863	Abnormal sternal ossification	3	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3			39
HP:0003330	HP:0011001	Increased bone mineral density	3	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0003330	HP:0011001	Increased bone mineral density	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0003330	HP:0004349	Reduced bone mineral density	3	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0003330	HP:0004349	Reduced bone mineral density	3	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003330	HP:0005474	Decreased calvarial ossification	3	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII			43
HP:0003330	HP:0004349	Reduced bone mineral density	3	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0003330	HP:0004349	Reduced bone mineral density	3	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0003330	HP:0004349	Reduced bone mineral density	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0003330	HP:0004349	Reduced bone mineral density	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0003330	HP:0004349	Reduced bone mineral density	3	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis			113
HP:0003330	HP:0004349	Reduced bone mineral density	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0003330	HP:0004349	Reduced bone mineral density	3	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type			28
HP:0003330	HP:0004349	Reduced bone mineral density	3	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional		66
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0003330	HP:0004349	Reduced bone mineral density	3	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0003330	HP:0005841	Calcific stippling of infantile cartilaginous skeleton	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1			72
HP:0003330	HP:0004349	Reduced bone mineral density	3	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003330	HP:0004349	Reduced bone mineral density	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040282 - Frequent		217
HP:0003330	HP:0011001	Increased bone mineral density	3	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia			217
HP:0003330	HP:0004349	Reduced bone mineral density	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0003330	HP:0004349	Reduced bone mineral density	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0003330	HP:0004349	Reduced bone mineral density	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies			9
HP:0003330	HP:0004349	Reduced bone mineral density	3	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome			9
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0003330	HP:0011001	Increased bone mineral density	3	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0003330	HP:0011001	Increased bone mineral density	3	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003330	HP:0004349	Reduced bone mineral density	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0003330	HP:0004349	Reduced bone mineral density	3	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome			45
HP:0003330	HP:0004349	Reduced bone mineral density	3	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2			45
HP:0003330	HP:0004349	Reduced bone mineral density	3	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0003330	HP:0004349	Reduced bone mineral density	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0003330	HP:0004349	Reduced bone mineral density	3	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0003330	HP:0004349	Reduced bone mineral density	3	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B			31
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency			1129
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003330	HP:0004349	Reduced bone mineral density	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0005474	Decreased calvarial ossification	3	PPIB CL E G H	5479	9255	OMIM:259440	Osteogenesis imperfecta, type IX			39
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis			134
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1			134
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0003330	HP:0004349	Reduced bone mineral density	3	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia			9
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROK2 CL E G H	60675	18455	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		9
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			9
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROKR2 CL E G H	128674	15836	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		34
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003330	HP:0004349	Reduced bone mineral density	3	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0003330	HP:0004349	Reduced bone mineral density	3	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0003330	HP:0004349	Reduced bone mineral density	3	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0003330	HP:0011001	Increased bone mineral density	3	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0011001	Increased bone mineral density	3	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0003330	HP:0004349	Reduced bone mineral density	3	PTEN CL E G H	5728	9588	ORPHA:137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	HP:0040282 - Frequent		948
HP:0003330	HP:0011001	Increased bone mineral density	3	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0011001	Increased bone mineral density	3	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome			58
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0004349	Reduced bone mineral density	3	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type			58
HP:0003330	HP:0004349	Reduced bone mineral density	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004349	Reduced bone mineral density	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004349	Reduced bone mineral density	3	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0003330	HP:0004349	Reduced bone mineral density	3	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003330	HP:0004349	Reduced bone mineral density	3	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica			53
HP:0003330	HP:0004349	Reduced bone mineral density	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0003330	HP:0004349	Reduced bone mineral density	3	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1			90
HP:0003330	HP:0004349	Reduced bone mineral density	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0003330	HP:0004349	Reduced bone mineral density	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0003330	HP:0011001	Increased bone mineral density	3	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0003330	HP:0004349	Reduced bone mineral density	3	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2			445
HP:0003330	HP:0004349	Reduced bone mineral density	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0003330	HP:0004349	Reduced bone mineral density	3	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0003330	HP:0004349	Reduced bone mineral density	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome			43
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0003330	HP:0004349	Reduced bone mineral density	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0003330	HP:0011001	Increased bone mineral density	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003330	HP:0004349	Reduced bone mineral density	3	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0003330	HP:0004349	Reduced bone mineral density	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003330	HP:0004349	Reduced bone mineral density	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003330	HP:0004349	Reduced bone mineral density	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003330	HP:0004349	Reduced bone mineral density	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0003330	HP:0004349	Reduced bone mineral density	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0003330	HP:0004349	Reduced bone mineral density	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0003330	HP:0004349	Reduced bone mineral density	3	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent
HP:0003330	HP:0004349	Reduced bone mineral density	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003330	HP:0011001	Increased bone mineral density	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0003330	HP:0004349	Reduced bone mineral density	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0003330	HP:0004349	Reduced bone mineral density	3	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia			90
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003330	HP:0011001	Increased bone mineral density	3	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0003330	HP:0004349	Reduced bone mineral density	3	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0003330	HP:0004349	Reduced bone mineral density	3	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0003330	HP:0012306	Abnormal rib ossification	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0003330	HP:0004349	Reduced bone mineral density	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0003330	HP:0004349	Reduced bone mineral density	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0003330	HP:0011001	Increased bone mineral density	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0003330	HP:0004349	Reduced bone mineral density	3	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0004349	Reduced bone mineral density	3	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	SEMA3A CL E G H	10371	10723	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		14
HP:0003330	HP:0004349	Reduced bone mineral density	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0003330	HP:0004349	Reduced bone mineral density	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0003330	HP:0004349	Reduced bone mineral density	3	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X			52
HP:0003330	HP:0000935	Thickened cortex of long bones	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0003330	HP:0011001	Increased bone mineral density	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0003330	HP:0011001	Increased bone mineral density	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0003330	HP:0004349	Reduced bone mineral density	3	SFRP4 CL E G H	6424	10778	OMIM:265900	Pyle disease	.		3
HP:0003330	HP:0004349	Reduced bone mineral density	3	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility
HP:0003330	HP:0011001	Increased bone mineral density	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003330	HP:0004349	Reduced bone mineral density	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0011001	Increased bone mineral density	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0004349	Reduced bone mineral density	3	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome			40
HP:0003330	HP:0004349	Reduced bone mineral density	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0003330	HP:0004349	Reduced bone mineral density	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0003330	HP:0011001	Increased bone mineral density	3	SLC26A2 CL E G H	1836	10994	ORPHA:628	Diastrophic dysplasia	HP:0040281 - Very frequent		166
HP:0003330	HP:0012306	Abnormal rib ossification	3	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia			166
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4			166
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0003330	HP:0011001	Increased bone mineral density	3	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome			71
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2			47
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		47
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1			47
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0011001	Increased bone mineral density	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		52
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary			52
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome			24
HP:0003330	HP:0011001	Increased bone mineral density	3	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN			11
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant			109
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type			74
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type			19
HP:0003330	HP:0004349	Reduced bone mineral density	3	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type			19
HP:0003330	HP:0004349	Reduced bone mineral density	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0004349	Reduced bone mineral density	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0003330	HP:0004349	Reduced bone mineral density	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0003330	HP:0004349	Reduced bone mineral density	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0003330	HP:0004349	Reduced bone mineral density	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0003330	HP:0011001	Increased bone mineral density	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0003330	HP:0011001	Increased bone mineral density	3	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0003330	HP:0011001	Increased bone mineral density	3	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0003330	HP:0011001	Increased bone mineral density	3	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata			26
HP:0003330	HP:0011001	Increased bone mineral density	3	SOST CL E G H	50964	13771	ORPHA:3152	Sclerosteosis	HP:0040281 - Very frequent		26
HP:0003330	HP:0000935	Thickened cortex of long bones	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0011001	Increased bone mineral density	3	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1			26
HP:0003330	HP:0004349	Reduced bone mineral density	3	SOX10 CL E G H	6663	11190	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		61
HP:0003330	HP:0004349	Reduced bone mineral density	3	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0003330	HP:0004349	Reduced bone mineral density	3	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis			109
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0011863	Abnormal sternal ossification	3	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0004349	Reduced bone mineral density	3	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004349	Reduced bone mineral density	3	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	SPRY4 CL E G H	81848	15533	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		5
HP:0003330	HP:0004349	Reduced bone mineral density	3	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			5
HP:0003330	HP:0010658	Patchy changes of bone mineral density	3	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0003330	HP:0011001	Increased bone mineral density	3	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3			62
HP:0003330	HP:0004349	Reduced bone mineral density	3	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6			15
HP:0003330	HP:0011001	Increased bone mineral density	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0004349	Reduced bone mineral density	3	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia
HP:0003330	HP:0004349	Reduced bone mineral density	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0003330	HP:0012306	Abnormal rib ossification	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0003330	HP:0004349	Reduced bone mineral density	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis			23
HP:0003330	HP:0004349	Reduced bone mineral density	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0003330	HP:0004349	Reduced bone mineral density	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0003330	HP:0004349	Reduced bone mineral density	3	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome			110
HP:0003330	HP:0004349	Reduced bone mineral density	3	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome			110
HP:0003330	HP:0004349	Reduced bone mineral density	3	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0003330	HP:0011001	Increased bone mineral density	3	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0003330	HP:0004349	Reduced bone mineral density	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0004349	Reduced bone mineral density	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0003330	HP:0004349	Reduced bone mineral density	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	TACR3 CL E G H	6870	11528	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		34
HP:0003330	HP:0004349	Reduced bone mineral density	3	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			34
HP:0003330	HP:0004349	Reduced bone mineral density	3	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0003330	HP:0004349	Reduced bone mineral density	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0003330	HP:0011001	Increased bone mineral density	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003330	HP:0000935	Thickened cortex of long bones	3	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0011001	Increased bone mineral density	3	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0010658	Patchy changes of bone mineral density	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0003330	HP:0011001	Increased bone mineral density	3	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome			52
HP:0003330	HP:0011001	Increased bone mineral density	3	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0003330	HP:0010658	Patchy changes of bone mineral density	3	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003330	HP:0011001	Increased bone mineral density	3	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome			52
HP:0003330	HP:0004349	Reduced bone mineral density	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0011001	Increased bone mineral density	3	TBXAS1 CL E G H	6916	11609	OMIM:231095	Ghosal hematodiaphyseal dysplasia	.		16
HP:0003330	HP:0004349	Reduced bone mineral density	3	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0003330	HP:0004349	Reduced bone mineral density	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0003330	HP:0004349	Reduced bone mineral density	3	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia			82
HP:0003330	HP:0004349	Reduced bone mineral density	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0003330	HP:0011001	Increased bone mineral density	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0003330	HP:0011001	Increased bone mineral density	3	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0003330	HP:0011001	Increased bone mineral density	3	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0003330	HP:0011001	Increased bone mineral density	3	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0004349	Reduced bone mineral density	3	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0004349	Reduced bone mineral density	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0003330	HP:0004349	Reduced bone mineral density	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0003330	HP:0004349	Reduced bone mineral density	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0003330	HP:0004349	Reduced bone mineral density	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0003330	HP:0004349	Reduced bone mineral density	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0003330	HP:0004349	Reduced bone mineral density	3	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0003330	HP:0004349	Reduced bone mineral density	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0003330	HP:0004349	Reduced bone mineral density	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003330	HP:0000935	Thickened cortex of long bones	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0000935	Thickened cortex of long bones	3	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0011001	Increased bone mineral density	3	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0011001	Increased bone mineral density	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0003330	HP:0004349	Reduced bone mineral density	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive			161
HP:0003330	HP:0004349	Reduced bone mineral density	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0003330	HP:0004349	Reduced bone mineral density	3	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3			60
HP:0003330	HP:0004349	Reduced bone mineral density	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0003330	HP:0004349	Reduced bone mineral density	3	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial			149
HP:0003330	HP:0004349	Reduced bone mineral density	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0003330	HP:0004349	Reduced bone mineral density	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0003330	HP:0011001	Increased bone mineral density	3	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0004349	Reduced bone mineral density	3	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome			166
HP:0003330	HP:0004349	Reduced bone mineral density	3	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0003330	HP:0011001	Increased bone mineral density	3	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0003330	HP:0004349	Reduced bone mineral density	3	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease			72
HP:0003330	HP:0011001	Increased bone mineral density	3	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0003330	HP:0011001	Increased bone mineral density	3	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0004349	Reduced bone mineral density	3	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease			44
HP:0003330	HP:0004349	Reduced bone mineral density	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003330	HP:0011001	Increased bone mineral density	3	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0003330	HP:0004349	Reduced bone mineral density	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0003330	HP:0011001	Increased bone mineral density	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0003330	HP:0011001	Increased bone mineral density	3	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0004349	Reduced bone mineral density	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0003330	HP:0004349	Reduced bone mineral density	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0003330	HP:0004349	Reduced bone mineral density	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0011001	Increased bone mineral density	3	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0004349	Reduced bone mineral density	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0004349	Reduced bone mineral density	3	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease			911
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0003330	HP:0004349	Reduced bone mineral density	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0003330	HP:0011001	Increased bone mineral density	3	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent		46
HP:0003330	HP:0004349	Reduced bone mineral density	3	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		31
HP:0003330	HP:0004349	Reduced bone mineral density	3	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0003330	HP:0000935	Thickened cortex of long bones	3	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0003330	HP:0010675	Abnormal foot bone ossification	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0003330	HP:0004349	Reduced bone mineral density	3	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0004349	Reduced bone mineral density	3	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0011001	Increased bone mineral density	3	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0004349	Reduced bone mineral density	3	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III			171
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0004349	Reduced bone mineral density	3	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003330	HP:0004349	Reduced bone mineral density	3	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		39
HP:0003330	HP:0004349	Reduced bone mineral density	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003330	HP:0004349	Reduced bone mineral density	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0003330	HP:0005474	Decreased calvarial ossification	3	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0003330	HP:0004349	Reduced bone mineral density	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent		22
HP:0003330	HP:0004349	Reduced bone mineral density	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0003330	HP:0009107	Abnormal ossification involving the femoral head and neck	3	UFSP2 CL E G H	55325	25640	ORPHA:2114	Hip dysplasia, Beukes type	HP:0040281 - Very frequent		2
HP:0003330	HP:0004349	Reduced bone mineral density	3	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0004349	Reduced bone mineral density	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0003330	HP:0004349	Reduced bone mineral density	3	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003330	HP:0004349	Reduced bone mineral density	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0003330	HP:0004349	Reduced bone mineral density	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0003330	HP:0004349	Reduced bone mineral density	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0003330	HP:0004349	Reduced bone mineral density	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0003330	HP:0004349	Reduced bone mineral density	3	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease			1
HP:0003330	HP:0004349	Reduced bone mineral density	3	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic			7
HP:0003330	HP:0004349	Reduced bone mineral density	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0003330	HP:0011863	Abnormal sternal ossification	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0003330	HP:0004349	Reduced bone mineral density	3	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis			2
HP:0003330	HP:0011001	Increased bone mineral density	3	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0003330	HP:0004349	Reduced bone mineral density	3	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets			104
HP:0003330	HP:0004349	Reduced bone mineral density	3	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A			104
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0010656	Abnormal epiphyseal ossification	3	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0004349	Reduced bone mineral density	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0003330	HP:0011001	Increased bone mineral density	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0004349	Reduced bone mineral density	3	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003330	HP:0004349	Reduced bone mineral density	3	WDR11 CL E G H	55717	13831	ORPHA:478	Kallmann syndrome	HP:0040282 - Frequent		10
HP:0003330	HP:0004349	Reduced bone mineral density	3	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism			10
HP:0003330	HP:0004349	Reduced bone mineral density	3	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia			95
HP:0003330	HP:0004349	Reduced bone mineral density	3	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia			136
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0003330	HP:0009106	Abnormal pelvis bone ossification	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040281 - Very frequent		136
HP:0003330	HP:0004349	Reduced bone mineral density	3	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0004349	Reduced bone mineral density	3	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis			12
HP:0003330	HP:0100569	Abnormally ossified vertebrae	3	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040282 - Frequent		12
HP:0003330	HP:0004349	Reduced bone mineral density	3	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis
HP:0003330	HP:0005474	Decreased calvarial ossification	3	WNT7A CL E G H	7476	12786	OMIM:276820	Ulna and fibula, absence of, with severe limb deficiency	.		13
HP:0003330	HP:0004349	Reduced bone mineral density	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0003330	HP:0004349	Reduced bone mineral density	3	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome			310
HP:0003330	HP:0004349	Reduced bone mineral density	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome			310
HP:0003330	HP:0011001	Increased bone mineral density	3	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040282 - Frequent		310
HP:0003330	HP:0004349	Reduced bone mineral density	3	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis			177
HP:0003330	HP:0004349	Reduced bone mineral density	3	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis			149
HP:0003330	HP:0004349	Reduced bone mineral density	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0003330	HP:0010660	Abnormal hand bone ossification	3	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003330	HP:0004349	Reduced bone mineral density	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome			17
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis			31
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009134	Osteolysis involving bones of the feet	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0003330	HP:0005474	Decreased calvarial ossification	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0003330	HP:0009699	Osteolytic defects of the hand bones	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional		14
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003330	HP:0004349	Reduced bone mineral density	3	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0003868	Humeral cortical thickening	4	CL E G H
HP:0003330	HP:0003892	Absent humeral epiphyseal ossification	4	CL E G H
HP:0003330	HP:0003893	Advanced ossification of the humeral epiphysis	4	CL E G H
HP:0003330	HP:0003914	Irregular ossification of humeral metaphyses	4	CL E G H
HP:0003330	HP:0003927	Cortical irregularity of humeral diaphysis	4	CL E G H
HP:0003330	HP:0004051	Advanced ossification of the hand bones	4	CL E G H
HP:0003330	HP:0004052	Delayed ossification of the hand bones	4	CL E G H
HP:0003330	HP:0004053	Dysharmonic maturation of the hand bones	4	CL E G H
HP:0003330	HP:0004234	Bone-in-a-bone appearance of carpal bones	4	CL E G H
HP:0003330	HP:0004238	Lytic defects of carpal bones	4	CL E G H
HP:0003330	HP:0004274	Deficient ossification of hand bones	4	CL E G H
HP:0003330	HP:0005665	Massively thickened long bone cortices	4	CL E G H
HP:0003330	HP:0006202	Osteolysis of scaphoids	4	CL E G H
HP:0003330	HP:0006607	Precocious costochondral ossification	4	CL E G H
HP:0003330	HP:0006611	Decreased number of sternal ossification centers	4	CL E G H
HP:0003330	HP:0008076	Osteoporotic tarsals	4	CL E G H
HP:0003330	HP:0008095	Osteolysis of talus	4	CL E G H
HP:0003330	HP:0008820	Absent ossification of capital femoral epiphysis	4	CL E G H
HP:0003330	HP:0009191	Ivory epiphyses of the metacarpals	4	CL E G H
HP:0003330	HP:0009195	Epiphyseal stippling of the metacarpals	4	CL E G H
HP:0003330	HP:0010030	Osteolytic defects of the 1st metacarpal	4	CL E G H
HP:0003330	HP:0010657	Patchy reduction of bone mineral density	4	CL E G H
HP:0003330	HP:0012711	Delayed ossification of vertebral epiphysis	4	CL E G H
HP:0003330	HP:0002748	Rickets	4	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0003330	HP:0002748	Rickets	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0002749	Osteomalacia	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0003330	HP:0000939	Osteoporosis	4	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0003330	HP:0000939	Osteoporosis	4	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		254
HP:0003330	HP:0002694	Sclerosis of skull base	4	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation			16
HP:0003330	HP:0000938	Osteopenia	4	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003330	HP:0000939	Osteoporosis	4	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003330	HP:0002748	Rickets	4	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003330	HP:0002749	Osteomalacia	4	ADAMTS2 CL E G H	9509	218	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		165
HP:0003330	HP:0000938	Osteopenia	4	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0003330	HP:0000938	Osteopenia	4	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003330	HP:0000939	Osteoporosis	4	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003330	HP:0002748	Rickets	4	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003330	HP:0002749	Osteomalacia	4	ADAMTSL2 CL E G H	9719	14631	ORPHA:1901	Dermatosparaxis Ehlers-Danlos syndrome	HP:0040281 - Very frequent		72
HP:0003330	HP:0000938	Osteopenia	4	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0003330	HP:0000938	Osteopenia	4	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040282 - Frequent		5
HP:0003330	HP:0000939	Osteoporosis	4	ADCY10 CL E G H	55811	21285	ORPHA:2197	Idiopathic hypercalciuria	HP:0040283 - Occasional		5
HP:0003330	HP:0000938	Osteopenia	4	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040281 - Very frequent
HP:0003330	HP:0000938	Osteopenia	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0003330	HP:0000939	Osteoporosis	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0003330	HP:0000938	Osteopenia	4	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS			1
HP:0003330	HP:0010655	Epiphyseal stippling	4	AGPS CL E G H	8540	327	OMIM:600121	Rhizomelic chondrodysplasia punctata, type 3	.		117
HP:0003330	HP:0000939	Osteoporosis	4	AIP CL E G H	9049	358	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		95
HP:0003330	HP:0000938	Osteopenia	4	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0003330	HP:0000939	Osteoporosis	4	AIP CL E G H	9049	358	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		95
HP:0003330	HP:0002748	Rickets	4	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0003330	HP:0000939	Osteoporosis	4	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0003330	HP:0000938	Osteopenia	4	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0003330	HP:0000938	Osteopenia	4	ALDH18A1 CL E G H	5832	9722	OMIM:616603	Cutis laxa, autosomal dominant 3	HP:0040283 - Occasional		89
HP:0003330	HP:0000938	Osteopenia	4	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040282 - Frequent		37
HP:0003330	HP:0002748	Rickets	4	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.		126
HP:0003330	HP:0002749	Osteomalacia	4	ALPL CL E G H	249	438	OMIM:146300	Hypophosphatasia, adult	.		126
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0003330	HP:0002694	Sclerosis of skull base	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0003330	HP:0011002	Osteopetrosis	4	AMER1 CL E G H	139285	26837	ORPHA:2780	Osteopathia striata-cranial sclerosis syndrome	HP:0040281 - Very frequent		34
HP:0003330	HP:0000938	Osteopenia	4	ANAPC1 CL E G H	64682	19988	ORPHA:221008	Rothmund-Thomson syndrome type 1	HP:0040284 - Very rare		2
HP:0003330	HP:0000939	Osteoporosis	4	ANAPC1 CL E G H	64682	19988	OMIM:618625	ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS1			2
HP:0003330	HP:0011002	Osteopetrosis	4	ANKH CL E G H	56172	15492	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent		164
HP:0003330	HP:0002694	Sclerosis of skull base	4	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.		164
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant			164
HP:0003330	HP:0000938	Osteopenia	4	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.		304
HP:0003330	HP:0000938	Osteopenia	4	ANO5 CL E G H	203859	27337	ORPHA:53697	Gnathodiaphyseal dysplasia	HP:0040282 - Frequent		304
HP:0003330	HP:0006392	Increased density of long bones	4	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0000938	Osteopenia	4	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0003330	HP:0000939	Osteoporosis	4	ANTXR2 CL E G H	118429	21732	OMIM:228600	Hyaline fibromatosis syndrome	.		49
HP:0003330	HP:0000938	Osteopenia	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003330	HP:0000939	Osteoporosis	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003330	HP:0002749	Osteomalacia	4	ANTXR2 CL E G H	118429	21732	ORPHA:2176	Infantile systemic hyalinosis	HP:0040281 - Very frequent		49
HP:0003330	HP:0002749	Osteomalacia	4	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0003330	HP:0000939	Osteoporosis	4	ARMC5 CL E G H	79798	25781	OMIM:615954	ACTH-independent macronodular adrenal hyperplasia 2	.		7
HP:0003330	HP:0000939	Osteoporosis	4	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent		7
HP:0003330	HP:0010237	Epiphyseal stippling of finger phalanges	4	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0010655	Epiphyseal stippling	4	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040282 - Frequent
HP:0003330	HP:0010655	Epiphyseal stippling	4	ARSL CL E G H	415	719	OMIM:302950	Chondrodysplasia punctata 1, X-linked recessive	.
HP:0003330	HP:0000939	Osteoporosis	4	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0003330	HP:0000939	Osteoporosis	4	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0003330	HP:0000939	Osteoporosis	4	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0003330	HP:0000939	Osteoporosis	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	HP:0040283 - Occasional		7
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	ATL3 CL E G H	25923	24526	OMIM:615632	Neuropathy, hereditary sensory, type IF	.		5
HP:0003330	HP:0000939	Osteoporosis	4	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0003330	HP:0000938	Osteopenia	4	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0003330	HP:0000938	Osteopenia	4	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0003330	HP:0002748	Rickets	4	ATP6V0A4 CL E G H	50617	866	OMIM:602722	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE; RTADR			64
HP:0003330	HP:0000939	Osteoporosis	4	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040283 - Occasional		192
HP:0003330	HP:0000939	Osteoporosis	4	ATP7A CL E G H	538	869	OMIM:309400	Menkes disease	.		192
HP:0003330	HP:0000938	Osteopenia	4	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003330	HP:0000939	Osteoporosis	4	ATP7A CL E G H	538	869	OMIM:304150	Occipital horn syndrome	.		192
HP:0003330	HP:0000939	Osteoporosis	4	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003330	HP:0002748	Rickets	4	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003330	HP:0002749	Osteomalacia	4	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0003330	HP:0000939	Osteoporosis	4	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0003330	HP:0002749	Osteomalacia	4	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0003330	HP:0000938	Osteopenia	4	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0003330	HP:0002748	Rickets	4	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0003330	HP:0000939	Osteoporosis	4	ATRX CL E G H	546	886	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		169
HP:0003330	HP:0000938	Osteopenia	4	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.		22
HP:0003330	HP:0000938	Osteopenia	4	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0003330	HP:0000938	Osteopenia	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040281 - Very frequent		38
HP:0003330	HP:0000939	Osteoporosis	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2			38
HP:0003330	HP:0000939	Osteoporosis	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0003330	HP:0000938	Osteopenia	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0003330	HP:0000939	Osteoporosis	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0003330	HP:0000938	Osteopenia	4	B4GALT7 CL E G H	11285	930	ORPHA:75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		29
HP:0003330	HP:0000938	Osteopenia	4	B4GALT7 CL E G H	11285	930	OMIM:130070	Ehlers-Danlos syndrome, spondylodysplastic type, 1			29
HP:0003330	HP:0002748	Rickets	4	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0003330	HP:0000939	Osteoporosis	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0003330	HP:0000938	Osteopenia	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked			7
HP:0003330	HP:0000939	Osteoporosis	4	BMP1 CL E G H	649	1067	OMIM:614856	Osteogenesis imperfecta, type XIII	HP:0040283 - Occasional		49
HP:0003330	HP:0000938	Osteopenia	4	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		16
HP:0003330	HP:0000939	Osteoporosis	4	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0003330	HP:0000939	Osteoporosis	4	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0003330	HP:0000939	Osteoporosis	4	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	BMPER CL E G H	168667	24154	ORPHA:66637	Diaphanospondylodysostosis	HP:0040281 - Very frequent		78
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0006615	Absent in utero rib ossification	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0003330	HP:0031096	Delayed vertebral ossification	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0010237	Epiphyseal stippling of finger phalanges	4	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0010655	Epiphyseal stippling	4	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0000938	Osteopenia	4	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0000939	Osteoporosis	4	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0000938	Osteopenia	4	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0003330	HP:0000939	Osteoporosis	4	BRAF CL E G H	673	1097	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		276
HP:0003330	HP:0000938	Osteopenia	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0011002	Osteopetrosis	4	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0003330	HP:0006392	Increased density of long bones	4	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0003330	HP:0011002	Osteopetrosis	4	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0003330	HP:0000939	Osteoporosis	4	CALCR CL E G H	799	1440	OMIM:166710	OSTEOPOROSIS	.		1
HP:0003330	HP:0000939	Osteoporosis	4	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0003330	HP:0000938	Osteopenia	4	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0003330	HP:0000939	Osteoporosis	4	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0003330	HP:0000939	Osteoporosis	4	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0003330	HP:0000939	Osteoporosis	4	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040281 - Very frequent		242
HP:0003330	HP:0000939	Osteoporosis	4	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0003330	HP:0000939	Osteoporosis	4	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0003330	HP:0000939	Osteoporosis	4	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood
HP:0003330	HP:0000938	Osteopenia	4	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040281 - Very frequent		1
HP:0003330	HP:0006643	Fused sternal ossification centers	4	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0003330	HP:0000938	Osteopenia	4	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		169
HP:0003330	HP:0000939	Osteoporosis	4	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism			169
HP:0003330	HP:0000939	Osteoporosis	4	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040282 - Frequent		169
HP:0003330	HP:0000939	Osteoporosis	4	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040282 - Frequent		169
HP:0003330	HP:0000939	Osteoporosis	4	CDH23 CL E G H	64072	13733	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		636
HP:0003330	HP:0000938	Osteopenia	4	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0003330	HP:0000939	Osteoporosis	4	CDH23 CL E G H	64072	13733	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		636
HP:0003330	HP:0000938	Osteopenia	4	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0003330	HP:0000939	Osteoporosis	4	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040282 - Frequent		636
HP:0003330	HP:0000938	Osteopenia	4	CDKN1C CL E G H	1028	1786	OMIM:614732	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies			114
HP:0003330	HP:0000938	Osteopenia	4	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000939	Osteoporosis	4	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000938	Osteopenia	4	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0000939	Osteoporosis	4	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0000938	Osteopenia	4	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0003330	HP:0000939	Osteoporosis	4	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0003330	HP:0000938	Osteopenia	4	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		515
HP:0003330	HP:0000939	Osteoporosis	4	CHD7 CL E G H	55636	20626	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		515
HP:0003330	HP:0000938	Osteopenia	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0003330	HP:0000939	Osteoporosis	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0003330	HP:0006462	Generalized bone demineralization	4	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003330	HP:0000938	Osteopenia	4	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000939	Osteoporosis	4	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0003330	HP:0002748	Rickets	4	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0003330	HP:0002749	Osteomalacia	4	CLCN5 CL E G H	1184	2023	OMIM:300009	Dent disease 1	.		112
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003330	HP:0002748	Rickets	4	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003330	HP:0002749	Osteomalacia	4	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003330	HP:0005789	Generalized osteosclerosis	4	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040281 - Very frequent		102
HP:0003330	HP:0011002	Osteopetrosis	4	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0003330	HP:0005652	Cortical sclerosis	4	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0003330	HP:0005789	Generalized osteosclerosis	4	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0003330	HP:0005789	Generalized osteosclerosis	4	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0003330	HP:0011002	Osteopetrosis	4	CLCN7 CL E G H	1186	2025	OMIM:166600	Osteopetrosis, autosomal dominant 2	.		102
HP:0003330	HP:0011002	Osteopetrosis	4	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0003330	HP:0000938	Osteopenia	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	CLPB CL E G H	81570	30664	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		38
HP:0003330	HP:0000938	Osteopenia	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0003330	HP:0000938	Osteopenia	4	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.		52
HP:0003330	HP:0006634	Osteosclerosis of ribs	4	COL10A1 CL E G H	1300	2185	ORPHA:174	Metaphyseal chondrodysplasia, Schmid type	HP:0040282 - Frequent		79
HP:0003330	HP:0005791	Cortical thickening of long bone diaphyses	4	COL1A1 CL E G H	1277	2197	ORPHA:1310	Caffey disease	HP:0040283 - Occasional		373
HP:0003330	HP:0000938	Osteopenia	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		373
HP:0003330	HP:0000938	Osteopenia	4	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0003330	HP:0000938	Osteopenia	4	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0003330	HP:0005623	Absent ossification of calvaria	4	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0003330	HP:0000939	Osteoporosis	4	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0000939	Osteoporosis	4	COL1A1 CL E G H	1277	2197	OMIM:166710	OSTEOPOROSIS	.		373
HP:0003330	HP:0005623	Absent ossification of calvaria	4	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0003330	HP:0000939	Osteoporosis	4	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0000939	Osteoporosis	4	COL1A2 CL E G H	1278	2198	OMIM:166710	OSTEOPOROSIS	.		243
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2			284
HP:0003330	HP:0031096	Delayed vertebral ossification	4	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0003330	HP:0000939	Osteoporosis	4	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1			284
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent		284
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.		284
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type			284
HP:0003330	HP:0000939	Osteoporosis	4	COL2A1 CL E G H	1280	2200	ORPHA:94068	Spondyloepiphyseal dysplasia congenita	HP:0040282 - Frequent		284
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome			284
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0003330	HP:0000938	Osteopenia	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		660
HP:0003330	HP:0000938	Osteopenia	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040282 - Frequent		325
HP:0003330	HP:0000938	Osteopenia	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0003330	HP:0000939	Osteoporosis	4	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COL9A3 CL E G H	1299	2219	OMIM:600969	Epiphyseal dysplasia, multiple, 3, with or without myopathy	.		137
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COMP CL E G H	1311	2227	OMIM:132400	Epiphyseal dysplasia, multiple, 1	.		89
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COMP CL E G H	1311	2227	ORPHA:93308	Multiple epiphyseal dysplasia type 1	HP:0040283 - Occasional		89
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COMP CL E G H	1311	2227	OMIM:177170	Pseudoachondroplasia			89
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	COMP CL E G H	1311	2227	ORPHA:750	Pseudoachondroplasia	HP:0040282 - Frequent		89
HP:0003330	HP:0000938	Osteopenia	4	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0003330	HP:0000938	Osteopenia	4	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0003330	HP:0000939	Osteoporosis	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	CREB3L1 CL E G H	90993	18856	OMIM:616229	Osteogenesis imperfecta, type XVI	.		4
HP:0003330	HP:0000938	Osteopenia	4	CRIPT CL E G H	9419	14312	OMIM:615789	Short stature with microcephaly and distinctive facies			4
HP:0003330	HP:0000938	Osteopenia	4	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0003330	HP:0004330	Increased skull ossification	4	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0006392	Increased density of long bones	4	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0011002	Osteopetrosis	4	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0003330	HP:0008797	Early ossification of capital femoral epiphyses	4	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		57
HP:0003330	HP:0000939	Osteoporosis	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0003330	HP:0000938	Osteopenia	4	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0003330	HP:0000939	Osteoporosis	4	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.		160
HP:0003330	HP:0000939	Osteoporosis	4	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0003330	HP:0000938	Osteopenia	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0003330	HP:0000939	Osteoporosis	4	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040282 - Frequent		17
HP:0003330	HP:0002748	Rickets	4	CTNS CL E G H	1497	2518	OMIM:219900	Cystinosis, late-onset juvenile or adolescent Nephropathic type	.		178
HP:0003330	HP:0002748	Rickets	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0003330	HP:0002748	Rickets	4	CTNS CL E G H	1497	2518	ORPHA:411629	Infantile nephropathic cystinosis	HP:0040281 - Very frequent		178
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	CTSC CL E G H	1075	2528	OMIM:245010	Haim-Munk syndrome	.		50
HP:0003330	HP:0005789	Generalized osteosclerosis	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS			39
HP:0003330	HP:0000939	Osteoporosis	4	CYB5A CL E G H	1528	2570	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0003330	HP:0000939	Osteoporosis	4	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0003330	HP:0000939	Osteoporosis	4	CYP17A1 CL E G H	1586	2593	ORPHA:90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	HP:0040281 - Very frequent		53
HP:0003330	HP:0000938	Osteopenia	4	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0003330	HP:0000939	Osteoporosis	4	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0003330	HP:0000938	Osteopenia	4	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0003330	HP:0000939	Osteoporosis	4	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040282 - Frequent		114
HP:0003330	HP:0000939	Osteoporosis	4	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis	.		114
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0003330	HP:0002748	Rickets	4	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate		41
HP:0003330	HP:0002749	Osteomalacia	4	CYP27B1 CL E G H	1594	2606	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		41
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0003330	HP:0002748	Rickets	4	CYP27B1 CL E G H	1594	2606	OMIM:264700	Vitamin D hydroxylation-deficient rickets, type 1A	.		41
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0003330	HP:0002748	Rickets	4	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040280 - Obligate		5
HP:0003330	HP:0002749	Osteomalacia	4	CYP2R1 CL E G H	120227	20580	ORPHA:289157	Hypocalcemic vitamin D-dependent rickets	HP:0040281 - Very frequent		5
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0003330	HP:0002748	Rickets	4	CYP2R1 CL E G H	120227	20580	OMIM:600081	Vitamin D hydroxylation-deficient rickets, type 1B	.		5
HP:0003330	HP:0000938	Osteopenia	4	CYP3A4 CL E G H	1576	2637	OMIM:619073	VITAMIN D-DEPENDENT RICKETS, TYPE 3; VDDR3			2
HP:0003330	HP:0000938	Osteopenia	4	DCAF17 CL E G H	80067	25784	ORPHA:3464	Woodhouse-Sakati syndrome	HP:0040281 - Very frequent		87
HP:0003330	HP:0000938	Osteopenia	4	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		27
HP:0003330	HP:0000938	Osteopenia	4	DCHS1 CL E G H	8642	13681	OMIM:601390	Van maldergem syndrome 1	.		27
HP:0003330	HP:0000938	Osteopenia	4	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000939	Osteoporosis	4	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000938	Osteopenia	4	DDOST CL E G H	1650	2728	OMIM:614507	Congenital disorder of glycosylation, type IR			62
HP:0003330	HP:0000938	Osteopenia	4	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type			45
HP:0003330	HP:0010655	Epiphyseal stippling	4	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	DDR2 CL E G H	4921	2731	OMIM:618175	WARBURG-CINOTTI SYNDROME; WRCN			45
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0003330	HP:0006462	Generalized bone demineralization	4	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040282 - Frequent
HP:0003330	HP:0005789	Generalized osteosclerosis	4	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0003330	HP:0011002	Osteopetrosis	4	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0003330	HP:0010655	Epiphyseal stippling	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.		159
HP:0003330	HP:0000939	Osteoporosis	4	DHX37 CL E G H	57647	17210	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0003330	HP:0000939	Osteoporosis	4	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0003330	HP:0000939	Osteoporosis	4	DKK1 CL E G H	22943	2891	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0003330	HP:0002694	Sclerosis of skull base	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003330	HP:0010655	Epiphyseal stippling	4	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003330	HP:0002748	Rickets	4	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			48
HP:0003330	HP:0002749	Osteomalacia	4	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0003330	HP:0002748	Rickets	4	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.		48
HP:0003330	HP:0000939	Osteoporosis	4	DMRT3 CL E G H	58524	13909	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		1
HP:0003330	HP:0000938	Osteopenia	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		5
HP:0003330	HP:0006598	Irregular ossification at anterior rib ends	4	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0003330	HP:0000938	Osteopenia	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0003330	HP:0000938	Osteopenia	4	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0003330	HP:0000938	Osteopenia	4	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	HP:0040283 - Occasional		4
HP:0003330	HP:0000939	Osteoporosis	4	DUSP6 CL E G H	1848	3072	OMIM:615269	Hypogonadotropic hypogonadism 19 with or without anosmia	HP:0040283 - Occasional		4
HP:0003330	HP:0000938	Osteopenia	4	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		4
HP:0003330	HP:0000939	Osteoporosis	4	DUSP6 CL E G H	1848	3072	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		4
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003330	HP:0003897	Irregular ossification of the humeral epiphyses	4	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease			65
HP:0003330	HP:0006450	Multicentric ossification of proximal femoral epiphyses	4	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0003330	HP:0008829	Delayed femoral head ossification	4	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0003330	HP:0008835	Multicentric femoral head ossification	4	DYM CL E G H	54808	21317	OMIM:607326	Smith-Mccort dysplasia 1	.		65
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0003330	HP:0100925	Sclerosis of foot bone	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0004054	Sclerosis of hand bone	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0010655	Epiphyseal stippling	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0003330	HP:0031051	Tarsal sclerosis	4	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0006619	Anterior rib punctate calcifications	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0010655	Epiphyseal stippling	4	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0000938	Osteopenia	4	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0000939	Osteoporosis	4	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0000938	Osteopenia	4	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	.		4
HP:0003330	HP:0000938	Osteopenia	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0002748	Rickets	4	EHHADH CL E G H	1962	3247	OMIM:615605	Fanconi renotubular syndrome 3	.		2
HP:0003330	HP:0002748	Rickets	4	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome			2
HP:0003330	HP:0002749	Osteomalacia	4	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0003330	HP:0004054	Sclerosis of hand bone	4	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0000938	Osteopenia	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	ELANE CL E G H	1991	3309	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		79
HP:0003330	HP:0000938	Osteopenia	4	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0003330	HP:0000938	Osteopenia	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0003330	HP:0000939	Osteoporosis	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0003330	HP:0000938	Osteopenia	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003330	HP:0000939	Osteoporosis	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0003330	HP:0002748	Rickets	4	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0003330	HP:0002748	Rickets	4	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets			151
HP:0003330	HP:0002749	Osteomalacia	4	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0003330	HP:0002748	Rickets	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0002749	Osteomalacia	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0003330	HP:0002748	Rickets	4	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2			151
HP:0003330	HP:0000938	Osteopenia	4	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0003330	HP:0000938	Osteopenia	4	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0003330	HP:0000939	Osteoporosis	4	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1	.		199
HP:0003330	HP:0000939	Osteoporosis	4	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003330	HP:0004054	Sclerosis of hand bone	4	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0004054	Sclerosis of hand bone	4	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003330	HP:0000938	Osteopenia	4	ESR1 CL E G H	2099	3467	OMIM:615363	Estrogen resistance	.		13
HP:0003330	HP:0000938	Osteopenia	4	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0003330	HP:0000939	Osteoporosis	4	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	ESR1 CL E G H	2099	3467	ORPHA:785	Estrogen resistance syndrome	HP:0040281 - Very frequent		13
HP:0003330	HP:0000939	Osteoporosis	4	ESR2 CL E G H	2100	3468	OMIM:618187	Ovarian dysgenesis 8	.
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0003330	HP:0002748	Rickets	4	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0003330	HP:0002748	Rickets	4	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome			8
HP:0003330	HP:0005791	Cortical thickening of long bone diaphyses	4	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040281 - Very frequent		8
HP:0003330	HP:0000938	Osteopenia	4	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0002748	Rickets	4	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0003330	HP:0000938	Osteopenia	4	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040282 - Frequent		114
HP:0003330	HP:0000939	Osteoporosis	4	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0003330	HP:0000938	Osteopenia	4	FAT4 CL E G H	79633	23109	OMIM:615546	Van maldergem syndrome 2	.		114
HP:0003330	HP:0000938	Osteopenia	4	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0003330	HP:0000938	Osteopenia	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		1361
HP:0003330	HP:0000938	Osteopenia	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0003330	HP:0011002	Osteopetrosis	4	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	HP:0040283 - Occasional		23
HP:0003330	HP:0000938	Osteopenia	4	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	HP:0040283 - Occasional		3
HP:0003330	HP:0000939	Osteoporosis	4	FGF17 CL E G H	8822	3673	OMIM:615270	Hypogonadotropic hypogonadism 20 with or without anosmia	HP:0040283 - Occasional		3
HP:0003330	HP:0000938	Osteopenia	4	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0003330	HP:0000939	Osteoporosis	4	FGF17 CL E G H	8822	3673	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0003330	HP:0002748	Rickets	4	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0003330	HP:0002749	Osteomalacia	4	FGF23 CL E G H	8074	3680	ORPHA:89937	Autosomal dominant hypophosphatemic rickets	HP:0040282 - Frequent		51
HP:0003330	HP:0002748	Rickets	4	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0003330	HP:0002749	Osteomalacia	4	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0003330	HP:0000938	Osteopenia	4	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		17
HP:0003330	HP:0000939	Osteoporosis	4	FGF8 CL E G H	2253	3686	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		17
HP:0003330	HP:0000938	Osteopenia	4	FGFR1 CL E G H	2260	3688	OMIM:147950	Hypogonadotropic hypogonadism 2 with or without anosmia	HP:0040283 - Occasional		172
HP:0003330	HP:0000938	Osteopenia	4	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		172
HP:0003330	HP:0000939	Osteoporosis	4	FGFR1 CL E G H	2260	3688	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		172
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0003330	HP:0000938	Osteopenia	4	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0003330	HP:0006628	Absent sternal ossification	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0003330	HP:0006628	Absent sternal ossification	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0000939	Osteoporosis	4	FKBP10 CL E G H	60681	18169	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		61
HP:0003330	HP:0000939	Osteoporosis	4	FKBP10 CL E G H	60681	18169	OMIM:259450	Bruck syndrome 1	.		61
HP:0003330	HP:0000938	Osteopenia	4	FKBP10 CL E G H	60681	18169	OMIM:610968	Osteogenesis imperfecta, type XI	.		61
HP:0003330	HP:0000938	Osteopenia	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	.		13
HP:0003330	HP:0000938	Osteopenia	4	FKBP14 CL E G H	55033	18625	ORPHA:300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	HP:0040282 - Frequent		13
HP:0003330	HP:0000938	Osteopenia	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0002694	Sclerosis of skull base	4	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0003330	HP:0006392	Increased density of long bones	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0003330	HP:0002694	Sclerosis of skull base	4	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0003330	HP:0008371	Abnormal metatarsal ossification	4	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040282 - Frequent		233
HP:0003330	HP:0003897	Irregular ossification of the humeral epiphyses	4	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0010655	Epiphyseal stippling	4	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0003330	HP:0000938	Osteopenia	4	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia	HP:0040283 - Occasional		4
HP:0003330	HP:0000939	Osteoporosis	4	FLRT3 CL E G H	23767	3762	OMIM:615271	Hypogonadotropic hypogonadism 21 with or without anosmia	HP:0040283 - Occasional		4
HP:0003330	HP:0000938	Osteopenia	4	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent
HP:0003330	HP:0000939	Osteoporosis	4	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003330	HP:0000938	Osteopenia	4	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		50
HP:0003330	HP:0000939	Osteoporosis	4	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0003330	HP:0000939	Osteoporosis	4	FSHR CL E G H	2492	3969	OMIM:233300	Ovarian dysgenesis 1	.		50
HP:0003330	HP:0000938	Osteopenia	4	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0003330	HP:0000939	Osteoporosis	4	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0003330	HP:0000939	Osteoporosis	4	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0003330	HP:0000939	Osteoporosis	4	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040283 - Occasional		351
HP:0003330	HP:0000938	Osteopenia	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0003330	HP:0000939	Osteoporosis	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0003330	HP:0000939	Osteoporosis	4	GATA4 CL E G H	2626	4173	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		87
HP:0003330	HP:0002748	Rickets	4	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.		86
HP:0003330	HP:0002749	Osteomalacia	4	GATM CL E G H	2628	4175	OMIM:134600	Fanconi renotubular syndrome 1	.		86
HP:0003330	HP:0002748	Rickets	4	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome			86
HP:0003330	HP:0002749	Osteomalacia	4	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0003330	HP:0000938	Osteopenia	4	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0003330	HP:0000938	Osteopenia	4	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0000939	Osteoporosis	4	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0000938	Osteopenia	4	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		51
HP:0003330	HP:0000939	Osteoporosis	4	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism			51
HP:0003330	HP:0000938	Osteopenia	4	GCM2 CL E G H	9247	4198	OMIM:617343	Hyperparathyroidism 4	HP:0040283 - Occasional		51
HP:0003330	HP:0010237	Epiphyseal stippling of finger phalanges	4	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0010655	Epiphyseal stippling	4	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0000938	Osteopenia	4	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities	.		1
HP:0003330	HP:0000938	Osteopenia	4	GFI1 CL E G H	2672	4237	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		56
HP:0003330	HP:0010655	Epiphyseal stippling	4	GGCX CL E G H	2677	4247	OMIM:277450	VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1	.		129
HP:0003330	HP:0011002	Osteopetrosis	4	GJA1 CL E G H	2697	4274	ORPHA:1522	Craniometaphyseal dysplasia	HP:0040281 - Very frequent		68
HP:0003330	HP:0004054	Sclerosis of hand bone	4	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0005686	Patchy osteosclerosis	4	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003330	HP:0000939	Osteoporosis	4	GK CL E G H	2710	4289	OMIM:307030	Glycerol kinase deficiency	.		13
HP:0003330	HP:0000939	Osteoporosis	4	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0003330	HP:0000938	Osteopenia	4	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		173
HP:0003330	HP:0000939	Osteoporosis	4	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0003330	HP:0000938	Osteopenia	4	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0003330	HP:0000938	Osteopenia	4	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0003330	HP:0000939	Osteoporosis	4	GNAS CL E G H	2778	4392	OMIM:219080	ACTH-independent macronodular adrenal hyperplasia	.		101
HP:0003330	HP:0000939	Osteoporosis	4	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia	HP:0040282 - Frequent		101
HP:0003330	HP:0002749	Osteomalacia	4	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0003330	HP:0005700	Increased bone density with cystic changes	4	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0003330	HP:0006392	Increased density of long bones	4	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B			101
HP:0003330	HP:0000939	Osteoporosis	4	GNAS CL E G H	2778	4392	OMIM:103580	Pseudohypoparathyroidism, type IA	.		101
HP:0003330	HP:0000939	Osteoporosis	4	GNAS CL E G H	2778	4392	OMIM:612462	Pseudohypoparathyroidism, type IC	.		101
HP:0003330	HP:0000939	Osteoporosis	4	GNAS CL E G H	2778	4392	OMIM:612463	PSEUDOPSEUDOHYPOPARATHYROIDISM	.		101
HP:0003330	HP:0000938	Osteopenia	4	GNPAT CL E G H	8443	4416	OMIM:222765	Rhizomelic chondrodysplasia punctata, type 2	.		58
HP:0003330	HP:0000938	Osteopenia	4	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0003330	HP:0000938	Osteopenia	4	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		15
HP:0003330	HP:0000939	Osteoporosis	4	GNRH1 CL E G H	2796	4419	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		15
HP:0003330	HP:0000938	Osteopenia	4	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		92
HP:0003330	HP:0000939	Osteoporosis	4	GNRHR CL E G H	2798	4421	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		92
HP:0003330	HP:0000939	Osteoporosis	4	GORAB CL E G H	92344	25676	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		52
HP:0003330	HP:0000938	Osteopenia	4	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0003330	HP:0000939	Osteoporosis	4	GORAB CL E G H	92344	25676	OMIM:231070	Geroderma osteodysplasticum	.		52
HP:0003330	HP:0000938	Osteopenia	4	GPAA1 CL E G H	8733	4446	OMIM:617810	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15
HP:0003330	HP:0000938	Osteopenia	4	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0003330	HP:0000939	Osteoporosis	4	GPAA1 CL E G H	8733	4446	ORPHA:529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	HP:0040282 - Frequent
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003330	HP:0000938	Osteopenia	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0003330	HP:0000939	Osteoporosis	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities			3
HP:0003330	HP:0000938	Osteopenia	4	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0000939	Osteoporosis	4	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0000938	Osteopenia	4	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0003330	HP:0000938	Osteopenia	4	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003330	HP:0000938	Osteopenia	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0010655	Epiphyseal stippling	4	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent		54
HP:0003330	HP:0000938	Osteopenia	4	GZF1 CL E G H	64412	15808	OMIM:617662	Joint laxity, short stature, and myopia	.
HP:0003330	HP:0000939	Osteoporosis	4	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040283 - Occasional		15
HP:0003330	HP:0000938	Osteopenia	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0003330	HP:0000939	Osteoporosis	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040281 - Very frequent		580
HP:0003330	HP:0000939	Osteoporosis	4	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0003330	HP:0000939	Osteoporosis	4	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0003330	HP:0000939	Osteoporosis	4	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0003330	HP:0000938	Osteopenia	4	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language			11
HP:0003330	HP:0000938	Osteopenia	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0003330	HP:0000939	Osteoporosis	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0003330	HP:0000938	Osteopenia	4	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		21
HP:0003330	HP:0000939	Osteoporosis	4	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0003330	HP:0000938	Osteopenia	4	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0003330	HP:0000939	Osteoporosis	4	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0003330	HP:0000939	Osteoporosis	4	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0003330	HP:0000939	Osteoporosis	4	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0003330	HP:0004330	Increased skull ossification	4	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0003330	HP:0004330	Increased skull ossification	4	HHAT CL E G H	55733	18270	ORPHA:1422	Chondrodysplasia-disorder of sex development syndrome	HP:0040281 - Very frequent
HP:0003330	HP:0000939	Osteoporosis	4	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003330	HP:0002748	Rickets	4	HLA-DQA1 CL E G H	3117	4942	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003330	HP:0000939	Osteoporosis	4	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003330	HP:0002748	Rickets	4	HLA-DQB1 CL E G H	3119	4944	OMIM:212750	Celiac disease, susceptibility to, 1	.
HP:0003330	HP:0010739	Osteopoikilosis	4	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040282 - Frequent		2
HP:0003330	HP:0000938	Osteopenia	4	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0000939	Osteoporosis	4	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0002748	Rickets	4	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young	.		138
HP:0003330	HP:0002748	Rickets	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0003330	HP:0000938	Osteopenia	4	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0003330	HP:0000938	Osteopenia	4	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0003330	HP:0000938	Osteopenia	4	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome			11
HP:0003330	HP:0000938	Osteopenia	4	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0003330	HP:0000939	Osteoporosis	4	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.		55
HP:0003330	HP:0000939	Osteoporosis	4	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0003330	HP:0002748	Rickets	4	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0003330	HP:0000938	Osteopenia	4	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0003330	HP:0002748	Rickets	4	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			113
HP:0003330	HP:0000938	Osteopenia	4	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0003330	HP:0000939	Osteoporosis	4	HS6ST1 CL E G H	9394	5201	OMIM:614880	Hypogonadotropic hypogonadism 15 with or without anosmia			8
HP:0003330	HP:0000938	Osteopenia	4	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		8
HP:0003330	HP:0000939	Osteoporosis	4	HS6ST1 CL E G H	9394	5201	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		8
HP:0003330	HP:0000938	Osteopenia	4	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0003330	HP:0000939	Osteoporosis	4	HSD17B4 CL E G H	3295	5213	OMIM:233400	Perrault syndrome 1	.		98
HP:0003330	HP:0002748	Rickets	4	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0003330	HP:0000939	Osteoporosis	4	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040283 - Occasional		26
HP:0003330	HP:0000939	Osteoporosis	4	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040282 - Frequent		345
HP:0003330	HP:0000939	Osteoporosis	4	HSPG2 CL E G H	3339	5273	OMIM:255800	Schwartz-jampel syndrome, type 1	.		345
HP:0003330	HP:0000939	Osteoporosis	4	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0003330	HP:0000938	Osteopenia	4	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia	.		25
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0003330	HP:0000938	Osteopenia	4	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	HP:0040283 - Occasional		6
HP:0003330	HP:0000938	Osteopenia	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0003330	HP:0000939	Osteoporosis	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0003330	HP:0000938	Osteopenia	4	IFITM5 CL E G H	387733	16644	OMIM:610967	Osteogenesis imperfecta, type V	.		8
HP:0003330	HP:0000939	Osteoporosis	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0003330	HP:0000939	Osteoporosis	4	IFT122 CL E G H	55764	13556	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		93
HP:0003330	HP:0000938	Osteopenia	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0003330	HP:0000939	Osteoporosis	4	IFT43 CL E G H	112752	29669	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		11
HP:0003330	HP:0000939	Osteoporosis	4	IFT52 CL E G H	51098	15901	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		4
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0003330	HP:0000939	Osteoporosis	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040282 - Frequent		91
HP:0003330	HP:0000938	Osteopenia	4	IGF1 CL E G H	3479	5464	OMIM:608747	Insulin-Like growth factor I deficiency	.		91
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0003330	HP:0000939	Osteoporosis	4	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		46
HP:0003330	HP:0000938	Osteopenia	4	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	HP:0040283 - Occasional		9
HP:0003330	HP:0000939	Osteoporosis	4	IL17RD CL E G H	54756	17616	OMIM:615267	Hypogonadotropic hypogonadism 18 with or without anosmia	HP:0040283 - Occasional		9
HP:0003330	HP:0000938	Osteopenia	4	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0003330	HP:0000938	Osteopenia	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		4
HP:0003330	HP:0000938	Osteopenia	4	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	.		4
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome			13
HP:0003330	HP:0000938	Osteopenia	4	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0003330	HP:0000939	Osteoporosis	4	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent		23
HP:0003330	HP:0000938	Osteopenia	4	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0000939	Osteoporosis	4	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0003330	HP:0000939	Osteoporosis	4	KDELR2 CL E G H	11014	6305	OMIM:619131	OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0003330	HP:0008797	Early ossification of capital femoral epiphyses	4	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional		24
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			276
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			276
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2			14
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	KIF22 CL E G H	3835	6391	ORPHA:93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	HP:0040282 - Frequent		14
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	KIF7 CL E G H	374654	30497	ORPHA:166024	Multiple epiphyseal dysplasia, Al-Gazali type	HP:0040281 - Very frequent		167
HP:0003330	HP:0000938	Osteopenia	4	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0003330	HP:0000939	Osteoporosis	4	KISS1 CL E G H	3814	6341	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		3
HP:0003330	HP:0000938	Osteopenia	4	KISS1R CL E G H	84634	4510	OMIM:614837	Hypogonadotropic hypogonadism 8 with or without anosmia	.		14
HP:0003330	HP:0000938	Osteopenia	4	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		14
HP:0003330	HP:0000939	Osteoporosis	4	KISS1R CL E G H	84634	4510	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		14
HP:0003330	HP:0000939	Osteoporosis	4	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0003330	HP:0000938	Osteopenia	4	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0000938	Osteopenia	4	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		1
HP:0003330	HP:0000938	Osteopenia	4	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.		1
HP:0003330	HP:0000938	Osteopenia	4	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0003330	HP:0002748	Rickets	4	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			196
HP:0003330	HP:0000939	Osteoporosis	4	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0003330	HP:0000938	Osteopenia	4	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0003330	HP:0000939	Osteoporosis	4	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0003330	HP:0000939	Osteoporosis	4	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0003330	HP:0000939	Osteoporosis	4	LARS2 CL E G H	23395	17095	OMIM:615300	Perrault syndrome 4			54
HP:0003330	HP:0002694	Sclerosis of skull base	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0004598	Supernumerary vertebral ossification centers	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.		70
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0006619	Anterior rib punctate calcifications	4	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040281 - Very frequent		70
HP:0003330	HP:0006619	Anterior rib punctate calcifications	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0006646	Costal cartilage calcification	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0010655	Epiphyseal stippling	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0003330	HP:0010659	Patchy variation in bone mineral density	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia	.		70
HP:0003330	HP:0010739	Osteopoikilosis	4	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040282 - Frequent		68
HP:0003330	HP:0005789	Generalized osteosclerosis	4	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040281 - Very frequent		68
HP:0003330	HP:0010739	Osteopoikilosis	4	LEMD3 CL E G H	23592	28887	ORPHA:1306	Buschke-Ollendorff syndrome	HP:0040280 - Obligate		68
HP:0003330	HP:0010739	Osteopoikilosis	4	LEMD3 CL E G H	23592	28887	OMIM:166700	Buschke-Ollendorff syndrome	.		68
HP:0003330	HP:0001474	Sclerotic scapulae	4	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0100925	Sclerosis of foot bone	4	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0004054	Sclerosis of hand bone	4	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0031051	Tarsal sclerosis	4	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0010739	Osteopoikilosis	4	LEMD3 CL E G H	23592	28887	ORPHA:1879	Melorheostosis with osteopoikilosis	HP:0040281 - Very frequent		68
HP:0003330	HP:0000939	Osteoporosis	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0003330	HP:0004598	Supernumerary vertebral ossification centers	4	LFNG CL E G H	3955	6560	OMIM:609813	Spondylocostal dysostosis 3, autosomal recessive	.		13
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0003330	HP:0000938	Osteopenia	4	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		43
HP:0003330	HP:0000939	Osteoporosis	4	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0003330	HP:0000938	Osteopenia	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003330	HP:0000939	Osteoporosis	4	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0003330	HP:0000939	Osteoporosis	4	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome	.		144
HP:0003330	HP:0000938	Osteopenia	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003330	HP:0004054	Sclerosis of hand bone	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0000939	Osteoporosis	4	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0003330	HP:0000938	Osteopenia	4	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0003330	HP:0000938	Osteopenia	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0000938	Osteopenia	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0003330	HP:0000939	Osteoporosis	4	LMX1B CL E G H	4010	6654	ORPHA:2614	Nail-patella syndrome	HP:0040283 - Occasional		165
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0003330	HP:0100923	Clavicular sclerosis	4	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent		125
HP:0003330	HP:0005789	Generalized osteosclerosis	4	LRP5 CL E G H	4041	6697	ORPHA:2790	Endosteal hyperostosis, Worth type	HP:0040281 - Very frequent		125
HP:0003330	HP:0000938	Osteopenia	4	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.		125
HP:0003330	HP:0005789	Generalized osteosclerosis	4	LRP5 CL E G H	4041	6697	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		125
HP:0003330	HP:0100923	Clavicular sclerosis	4	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0003330	HP:0100925	Sclerosis of foot bone	4	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal			125
HP:0003330	HP:0006174	Metacarpal diaphyseal endosteal sclerosis	4	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0005789	Generalized osteosclerosis	4	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1	.		125
HP:0003330	HP:0011002	Osteopetrosis	4	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0000939	Osteoporosis	4	LRP5 CL E G H	4041	6697	OMIM:166710	OSTEOPOROSIS	.		125
HP:0003330	HP:0000938	Osteopenia	4	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent		125
HP:0003330	HP:0000939	Osteoporosis	4	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040281 - Very frequent		125
HP:0003330	HP:0000939	Osteoporosis	4	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0003330	HP:0000939	Osteoporosis	4	LRP6 CL E G H	4040	6698	OMIM:610947	Coronary artery disease, autosomal dominant 2	.		26
HP:0003330	HP:0100923	Clavicular sclerosis	4	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia	.		1
HP:0003330	HP:0000938	Osteopenia	4	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0003330	HP:0001473	Metatarsal osteolysis	4	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0003330	HP:0006234	Osteolysis involving tarsal bones	4	MAFB CL E G H	9935	6408	OMIM:166300	Multicentric carpotarsal osteolysis syndrome	.		63
HP:0003330	HP:0000938	Osteopenia	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0003330	HP:0000939	Osteoporosis	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0003330	HP:0000938	Osteopenia	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0003330	HP:0000939	Osteoporosis	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0003330	HP:0000938	Osteopenia	4	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0003330	HP:0000939	Osteoporosis	4	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0003330	HP:0000938	Osteopenia	4	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0003330	HP:0000939	Osteoporosis	4	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0003330	HP:0000938	Osteopenia	4	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0003330	HP:0000939	Osteoporosis	4	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0003330	HP:0000939	Osteoporosis	4	MALT1 CL E G H	10892	6819	OMIM:615468	Immunodeficiency 12	HP:0040283 - Occasional		6
HP:0003330	HP:0000938	Osteopenia	4	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0003330	HP:0000938	Osteopenia	4	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0003330	HP:0005791	Cortical thickening of long bone diaphyses	4	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional		136
HP:0003330	HP:0000939	Osteoporosis	4	MAP3K1 CL E G H	4214	6848	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		13
HP:0003330	HP:0002694	Sclerosis of skull base	4	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5			32
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5			32
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040281 - Very frequent		32
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type
HP:0003330	HP:0000938	Osteopenia	4	MBTPS2 CL E G H	51360	15455	OMIM:301014	Osteogenesis imperfecta, type XIX	.		22
HP:0003330	HP:0000938	Osteopenia	4	MDM4 CL E G H	4194	6974	OMIM:618849	BONE MARROW FAILURE SYNDROME 6; BMFS6			1
HP:0003330	HP:0000939	Osteoporosis	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0003330	HP:0002694	Sclerosis of skull base	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003330	HP:0010655	Epiphyseal stippling	4	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		462
HP:0003330	HP:0000939	Osteoporosis	4	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism			462
HP:0003330	HP:0000938	Osteopenia	4	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0003330	HP:0000939	Osteoporosis	4	MEN1 CL E G H	4221	7010	ORPHA:2965	Prolactinoma	HP:0040282 - Frequent		462
HP:0003330	HP:0000938	Osteopenia	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0003330	HP:0000938	Osteopenia	4	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0003330	HP:0006140	Premature fusion of phalangeal epiphyses	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0003330	HP:0006646	Costal cartilage calcification	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0003330	HP:0010655	Epiphyseal stippling	4	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0003330	HP:0000938	Osteopenia	4	MIA3 CL E G H	375056	24008	OMIM:619269	ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2
HP:0003330	HP:0000938	Osteopenia	4	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0000939	Osteoporosis	4	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	MIR140 CL E G H	406932	31527	OMIM:618618	SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE; SEDN
HP:0003330	HP:0011002	Osteopetrosis	4	MITF CL E G H	4286	7105	OMIM:617306	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness	.		91
HP:0003330	HP:0000938	Osteopenia	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0003330	HP:0000939	Osteoporosis	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0003330	HP:0000938	Osteopenia	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000938	Osteopenia	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003330	HP:0000939	Osteoporosis	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0003330	HP:0000939	Osteoporosis	4	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0003330	HP:0000939	Osteoporosis	4	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0003330	HP:0000938	Osteopenia	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0006234	Osteolysis involving tarsal bones	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0006234	Osteolysis involving tarsal bones	4	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome			2
HP:0003330	HP:0000938	Osteopenia	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003330	HP:0000939	Osteoporosis	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003330	HP:0001473	Metatarsal osteolysis	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy	.		64
HP:0003330	HP:0006234	Osteolysis involving tarsal bones	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0003330	HP:0000938	Osteopenia	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0000939	Osteoporosis	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0006234	Osteolysis involving tarsal bones	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040281 - Very frequent		64
HP:0003330	HP:0000938	Osteopenia	4	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0003330	HP:0000938	Osteopenia	4	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		25
HP:0003330	HP:0000939	Osteoporosis	4	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0003330	HP:0000938	Osteopenia	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0003330	HP:0000938	Osteopenia	4	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0003330	HP:0005686	Patchy osteosclerosis	4	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0003330	HP:0006392	Increased density of long bones	4	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0000939	Osteoporosis	4	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0003330	HP:0000938	Osteopenia	4	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0003330	HP:0000938	Osteopenia	4	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0000938	Osteopenia	4	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0003330	HP:0002748	Rickets	4	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0003330	HP:0000938	Osteopenia	4	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.		47
HP:0003330	HP:0004330	Increased skull ossification	4	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0003330	HP:0000938	Osteopenia	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0003330	HP:0000939	Osteoporosis	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0003330	HP:0000938	Osteopenia	4	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0003330	HP:0002748	Rickets	4	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003330	HP:0002748	Rickets	4	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome			39
HP:0003330	HP:0002749	Osteomalacia	4	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0003330	HP:0000939	Osteoporosis	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0003330	HP:0010655	Epiphyseal stippling	4	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0003330	HP:0000938	Osteopenia	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0003330	HP:0000939	Osteoporosis	4	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0003330	HP:0000939	Osteoporosis	4	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0003330	HP:0006642	Large sternal ossification centers	4	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0003330	HP:0100925	Sclerosis of foot bone	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0004054	Sclerosis of hand bone	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0003330	HP:0031051	Tarsal sclerosis	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003330	HP:0000939	Osteoporosis	4	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0003330	HP:0000938	Osteopenia	4	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0003330	HP:0000939	Osteoporosis	4	NHERF1 CL E G H	9368	11075	OMIM:612287	Nephrolithiasis/osteoporosis, hypophosphatemic, 2	.
HP:0003330	HP:0000939	Osteoporosis	4	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0003330	HP:0000939	Osteoporosis	4	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003330	HP:0031096	Delayed vertebral ossification	4	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0003330	HP:0000939	Osteoporosis	4	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0003330	HP:0000939	Osteoporosis	4	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0003330	HP:0000938	Osteopenia	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0003330	HP:0000938	Osteopenia	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0003330	HP:0000939	Osteoporosis	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0003330	HP:0000939	Osteoporosis	4	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040281 - Very frequent		138
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0003330	HP:0002694	Sclerosis of skull base	4	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.		144
HP:0003330	HP:0000938	Osteopenia	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0003330	HP:0000939	Osteoporosis	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0003330	HP:0000939	Osteoporosis	4	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0003330	HP:0000938	Osteopenia	4	NPR2 CL E G H	4882	7944	OMIM:615923	Epiphyseal chondrodysplasia, Miura type	.		53
HP:0003330	HP:0000939	Osteoporosis	4	NR0B1 CL E G H	190	7960	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		48
HP:0003330	HP:0000939	Osteoporosis	4	NR3C1 CL E G H	2908	7978	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		79
HP:0003330	HP:0000938	Osteopenia	4	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0003330	HP:0000939	Osteoporosis	4	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0003330	HP:0000939	Osteoporosis	4	NR5A1 CL E G H	2516	7983	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		38
HP:0003330	HP:0000938	Osteopenia	4	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0003330	HP:0002748	Rickets	4	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome			102
HP:0003330	HP:0000939	Osteoporosis	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0003330	HP:0010655	Epiphyseal stippling	4	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0003330	HP:0000939	Osteoporosis	4	NSMF CL E G H	26012	29843	OMIM:614838	Hypogonadotropic hypogonadism 9 with or without anosmia	.		6
HP:0003330	HP:0000938	Osteopenia	4	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0003330	HP:0000939	Osteoporosis	4	NSMF CL E G H	26012	29843	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0003330	HP:0000938	Osteopenia	4	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		5
HP:0003330	HP:0000939	Osteoporosis	4	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0003330	HP:0000938	Osteopenia	4	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0003330	HP:0000939	Osteoporosis	4	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0003330	HP:0000938	Osteopenia	4	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0003330	HP:0000939	Osteoporosis	4	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0003330	HP:0000938	Osteopenia	4	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0003330	HP:0000939	Osteoporosis	4	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0003330	HP:0002748	Rickets	4	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003330	HP:0002749	Osteomalacia	4	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.		88
HP:0003330	HP:0002749	Osteomalacia	4	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent		88
HP:0003330	HP:0006628	Absent sternal ossification	4	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0003330	HP:0006628	Absent sternal ossification	4	ORC6 CL E G H	23594	17151	OMIM:613803	Meier-Gorlin syndrome 3	.		39
HP:0003330	HP:0004330	Increased skull ossification	4	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent		73
HP:0003330	HP:0011002	Osteopetrosis	4	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0003330	HP:0000938	Osteopenia	4	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		41
HP:0003330	HP:0000939	Osteoporosis	4	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0003330	HP:0000938	Osteopenia	4	P3H1 CL E G H	64175	19316	OMIM:610915	Osteogenesis imperfecta, type VIII	.		43
HP:0003330	HP:0000938	Osteopenia	4	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0003330	HP:0000938	Osteopenia	4	PAPPA2 CL E G H	60676	14615	OMIM:619489	SHORT STATURE, DAUBER-ARGENTE TYPE; SSDA			2
HP:0003330	HP:0000939	Osteoporosis	4	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0003330	HP:0000939	Osteoporosis	4	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0003330	HP:0000939	Osteoporosis	4	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0003330	HP:0000938	Osteopenia	4	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0003330	HP:0000939	Osteoporosis	4	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2	.		13
HP:0003330	HP:0000939	Osteoporosis	4	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		13
HP:0003330	HP:0010655	Epiphyseal stippling	4	PDE4D CL E G H	5144	8783	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		113
HP:0003330	HP:0000939	Osteoporosis	4	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		75
HP:0003330	HP:0000938	Osteopenia	4	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	PDGFRB CL E G H	5159	8804	OMIM:601812	Premature aging syndrome, Penttinen type	.		28
HP:0003330	HP:0000939	Osteoporosis	4	PDLIM4 CL E G H	8572	16501	OMIM:166710	OSTEOPOROSIS	.		1
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.		75
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0003330	HP:0000939	Osteoporosis	4	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.		59
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.		98
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0003330	HP:0010655	Epiphyseal stippling	4	PEX7 CL E G H	5191	8860	OMIM:215100	Rhizomelic chondrodysplasia punctata, type 1	.		72
HP:0003330	HP:0002748	Rickets	4	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant			217
HP:0003330	HP:0002749	Osteomalacia	4	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0003330	HP:0002748	Rickets	4	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040281 - Very frequent		217
HP:0003330	HP:0005789	Generalized osteosclerosis	4	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare		217
HP:0003330	HP:0000939	Osteoporosis	4	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0003330	HP:0000939	Osteoporosis	4	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0003330	HP:0000939	Osteoporosis	4	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0003330	HP:0000939	Osteoporosis	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0003330	HP:0000938	Osteopenia	4	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040281 - Very frequent		12
HP:0003330	HP:0000938	Osteopenia	4	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0003330	HP:0000939	Osteoporosis	4	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0003330	HP:0000938	Osteopenia	4	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0003330	HP:0000938	Osteopenia	4	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0003330	HP:0000938	Osteopenia	4	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent		9
HP:0003330	HP:0000938	Osteopenia	4	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.		9
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	PISD CL E G H	23761	8999	OMIM:618889	LIBERFARB SYNDROME; LIBF			1
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0003330	HP:0005652	Cortical sclerosis	4	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0003330	HP:0005789	Generalized osteosclerosis	4	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0003330	HP:0000938	Osteopenia	4	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0003330	HP:0011002	Osteopetrosis	4	PLEKHM1 CL E G H	9842	29017	OMIM:611497	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 6; OPTB6			2
HP:0003330	HP:0000938	Osteopenia	4	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0003330	HP:0000939	Osteoporosis	4	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0003330	HP:0000938	Osteopenia	4	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent		105
HP:0003330	HP:0000939	Osteoporosis	4	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040281 - Very frequent		105
HP:0003330	HP:0000939	Osteoporosis	4	PLOD2 CL E G H	5352	9082	ORPHA:2771	Bruck syndrome	HP:0040281 - Very frequent		45
HP:0003330	HP:0000938	Osteopenia	4	PLOD2 CL E G H	5352	9082	OMIM:609220	Bruck syndrome 2	.		45
HP:0003330	HP:0000938	Osteopenia	4	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness	.		5
HP:0003330	HP:0000938	Osteopenia	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0003330	HP:0000938	Osteopenia	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0003330	HP:0000939	Osteoporosis	4	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040282 - Frequent		150
HP:0003330	HP:0000938	Osteopenia	4	POC1A CL E G H	25886	24488	OMIM:614813	Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis			10
HP:0003330	HP:0000939	Osteoporosis	4	POF1B CL E G H	79983	13711	OMIM:300604	Premature ovarian failure 2B	.		31
HP:0003330	HP:0000939	Osteoporosis	4	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0003330	HP:0000938	Osteopenia	4	POLE CL E G H	5426	9177	OMIM:618336	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	HP:0040284 - Very rare		1129
HP:0003330	HP:0000939	Osteoporosis	4	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0003330	HP:0000939	Osteoporosis	4	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0003330	HP:0000938	Osteopenia	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0003330	HP:0000938	Osteopenia	4	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0000939	Osteoporosis	4	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0002748	Rickets	4	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0003330	HP:0000938	Osteopenia	4	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		36
HP:0003330	HP:0000939	Osteoporosis	4	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0003330	HP:0000939	Osteoporosis	4	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		58
HP:0003330	HP:0000939	Osteoporosis	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0003330	HP:0000938	Osteopenia	4	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0003330	HP:0000939	Osteoporosis	4	PRKACA CL E G H	5566	9380	OMIM:615830	Pigmented nodular adrenocortical disease, primary, 4	.		2
HP:0003330	HP:0000939	Osteoporosis	4	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		2
HP:0003330	HP:0010655	Epiphyseal stippling	4	PRKAR1A CL E G H	5573	9388	ORPHA:950	Acrodysostosis	HP:0040281 - Very frequent		134
HP:0003330	HP:0010655	Epiphyseal stippling	4	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0003330	HP:0000938	Osteopenia	4	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0003330	HP:0000939	Osteoporosis	4	PRKAR1A CL E G H	5573	9388	OMIM:610489	Pigmented nodular adrenocortical disease, primary, 1	.		134
HP:0003330	HP:0000939	Osteoporosis	4	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease	HP:0040282 - Frequent		134
HP:0003330	HP:0000938	Osteopenia	4	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040283 - Occasional		2
HP:0003330	HP:0000939	Osteoporosis	4	PRLR CL E G H	5618	9446	ORPHA:397685	Familial hyperprolactinemia	HP:0040283 - Occasional		2
HP:0003330	HP:0000939	Osteoporosis	4	PROK2 CL E G H	60675	18455	OMIM:610628	Hypogonadotropic hypogonadism 4 with or without anosmia	HP:0040283 - Occasional		9
HP:0003330	HP:0000938	Osteopenia	4	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		9
HP:0003330	HP:0000939	Osteoporosis	4	PROK2 CL E G H	60675	18455	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		9
HP:0003330	HP:0000938	Osteopenia	4	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0003330	HP:0000939	Osteoporosis	4	PROKR2 CL E G H	128674	15836	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0003330	HP:0000938	Osteopenia	4	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040282 - Frequent		54
HP:0003330	HP:0000939	Osteoporosis	4	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0003330	HP:0000938	Osteopenia	4	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		54
HP:0003330	HP:0000939	Osteoporosis	4	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0003330	HP:0000938	Osteopenia	4	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0003330	HP:0000938	Osteopenia	4	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0004280	Irregular ossification of hand bones	4	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0003330	HP:0004280	Irregular ossification of hand bones	4	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0003330	HP:0002694	Sclerosis of skull base	4	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism			6
HP:0003330	HP:0011002	Osteopetrosis	4	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040281 - Very frequent		6
HP:0003330	HP:0005789	Generalized osteosclerosis	4	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.	HP:0003577 - Congenital onset	58
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome	.		58
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	PTH1R CL E G H	5745	9608	ORPHA:79106	Eiken syndrome	HP:0040282 - Frequent		58
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0000938	Osteopenia	4	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.		58
HP:0003330	HP:0000938	Osteopenia	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000938	Osteopenia	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000938	Osteopenia	4	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0003330	HP:0000938	Osteopenia	4	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003330	HP:0000939	Osteoporosis	4	PYCR1 CL E G H	5831	9721	OMIM:614438	Cutis laxa, autosomal recessive, type IIIB			53
HP:0003330	HP:0000939	Osteoporosis	4	PYCR1 CL E G H	5831	9721	ORPHA:2078	Geroderma osteodysplastica	HP:0040281 - Very frequent		53
HP:0003330	HP:0000938	Osteopenia	4	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0003330	HP:0000939	Osteoporosis	4	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040282 - Frequent		71
HP:0003330	HP:0000939	Osteoporosis	4	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1	.		90
HP:0003330	HP:0004330	Increased skull ossification	4	RBL2 CL E G H	5934	9894	OMIM:619690	BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME; BRUWAG
HP:0003330	HP:0000938	Osteopenia	4	RECQL4 CL E G H	9401	9949	ORPHA:221016	Rothmund-Thomson syndrome type 2	HP:0040283 - Occasional		445
HP:0003330	HP:0000939	Osteoporosis	4	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			54
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			54
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	RETREG1 CL E G H	54463	25964	OMIM:613115	Neuropathy, hereditary sensory and autonomic, type IIB			54
HP:0003330	HP:0000938	Osteopenia	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	RIN2 CL E G H	54453	18750	OMIM:613075	Macs syndrome	HP:0040283 - Occasional		43
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia			37
HP:0003330	HP:0000938	Osteopenia	4	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0003330	HP:0000938	Osteopenia	4	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0003330	HP:0000938	Osteopenia	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0003330	HP:0000939	Osteoporosis	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0003330	HP:0002748	Rickets	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0003330	HP:0002749	Osteomalacia	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0003330	HP:0000939	Osteoporosis	4	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0003330	HP:0000939	Osteoporosis	4	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0003330	HP:0000939	Osteoporosis	4	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0003330	HP:0000938	Osteopenia	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0003330	HP:0000939	Osteoporosis	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0003330	HP:0000939	Osteoporosis	4	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0003330	HP:0002748	Rickets	4	RRM2B CL E G H	50484	17296	OMIM:268315	ROD-CONE DYSTROPHY, SENSORINEURAL DEAFNESS, AND FANCONI-TYPE RENAL DYSFUNCTION			125
HP:0003330	HP:0000938	Osteopenia	4	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040281 - Very frequent		2
HP:0003330	HP:0000938	Osteopenia	4	RSPRY1 CL E G H	89970	29420	OMIM:616723	Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type	.		2
HP:0003330	HP:0000939	Osteoporosis	4	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0003330	HP:0002694	Sclerosis of skull base	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003330	HP:0010655	Epiphyseal stippling	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0003330	HP:0000939	Osteoporosis	4	RUNX2 CL E G H	860	10472	ORPHA:1452	Cleidocranial dysplasia	HP:0040282 - Frequent		90
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia			90
HP:0003330	HP:0000939	Osteoporosis	4	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0003330	HP:0000939	Osteoporosis	4	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003330	HP:0000938	Osteopenia	4	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0003330	HP:0000938	Osteopenia	4	SATB2 CL E G H	23314	21637	ORPHA:576283	SATB2-associated syndrome due to a pathogenic variant	HP:0040282 - Frequent		34
HP:0003330	HP:0000938	Osteopenia	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		26
HP:0003330	HP:0006598	Irregular ossification at anterior rib ends	4	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0003330	HP:0000939	Osteoporosis	4	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0003330	HP:0000938	Osteopenia	4	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			318
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			318
HP:0003330	HP:0000938	Osteopenia	4	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	HP:0040283 - Occasional		2
HP:0003330	HP:0000938	Osteopenia	4	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0003330	HP:0000938	Osteopenia	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0003330	HP:0000939	Osteoporosis	4	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0003330	HP:0000938	Osteopenia	4	SERPINH1 CL E G H	871	1546	OMIM:613848	Osteogenesis imperfecta, type X	.		52
HP:0003330	HP:0002694	Sclerosis of skull base	4	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0003330	HP:0006392	Increased density of long bones	4	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0003330	HP:0002694	Sclerosis of skull base	4	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome			60
HP:0003330	HP:0000938	Osteopenia	4	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	.
HP:0003330	HP:0000939	Osteoporosis	4	SGMS2 CL E G H	166929	28395	OMIM:126550	Calvarial doughnut lesions with bone fragility	.
HP:0003330	HP:0004330	Increased skull ossification	4	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0003330	HP:0000938	Osteopenia	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.		134
HP:0003330	HP:0000939	Osteoporosis	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome	.		134
HP:0003330	HP:0002694	Sclerosis of skull base	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0003330	HP:0009105	Abnormal ossification of the pubic bone	4	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0000938	Osteopenia	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0003330	HP:0000939	Osteoporosis	4	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040283 - Occasional		40
HP:0003330	HP:0000938	Osteopenia	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.		150
HP:0003330	HP:0000938	Osteopenia	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional		150
HP:0003330	HP:0000938	Osteopenia	4	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
HP:0003330	HP:0000938	Osteopenia	4	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0000939	Osteoporosis	4	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0003330	HP:0000938	Osteopenia	4	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0003330	HP:0000938	Osteopenia	4	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0003330	HP:0000939	Osteoporosis	4	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040282 - Frequent		36
HP:0003330	HP:0000939	Osteoporosis	4	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0003330	HP:0006646	Costal cartilage calcification	4	SLC26A2 CL E G H	1836	10994	OMIM:222600	Diastrophic dysplasia	.		166
HP:0003330	HP:0008829	Delayed femoral head ossification	4	SLC26A2 CL E G H	1836	10994	ORPHA:93307	Multiple epiphyseal dysplasia type 4	HP:0040283 - Occasional		166
HP:0003330	HP:0000938	Osteopenia	4	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0003330	HP:0000939	Osteoporosis	4	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0003330	HP:0000938	Osteopenia	4	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040283 - Occasional		71
HP:0003330	HP:0002748	Rickets	4	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0003330	HP:0002749	Osteomalacia	4	SLC2A2 CL E G H	6514	11006	OMIM:227810	Fanconi-Bickel syndrome	.		71
HP:0003330	HP:0000938	Osteopenia	4	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.		47
HP:0003330	HP:0002748	Rickets	4	SLC34A1 CL E G H	6569	11019	OMIM:613388	Fanconi renotubular syndrome 2	.		47
HP:0003330	HP:0002748	Rickets	4	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			47
HP:0003330	HP:0002749	Osteomalacia	4	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		47
HP:0003330	HP:0000938	Osteopenia	4	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.		47
HP:0003330	HP:0000939	Osteoporosis	4	SLC34A1 CL E G H	6569	11019	OMIM:612286	Nephrolithiasis/osteoporosis, hypophosphatemic, 1	.		47
HP:0003330	HP:0002748	Rickets	4	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome			47
HP:0003330	HP:0002749	Osteomalacia	4	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0003330	HP:0004054	Sclerosis of hand bone	4	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0002748	Rickets	4	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria			52
HP:0003330	HP:0002749	Osteomalacia	4	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040282 - Frequent		52
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0003330	HP:0002748	Rickets	4	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0003330	HP:0000938	Osteopenia	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0003330	HP:0008369	Abnormal tarsal ossification	4	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0003330	HP:0000939	Osteoporosis	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0003330	HP:0000938	Osteopenia	4	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:0003330	HP:0000939	Osteoporosis	4	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0003330	HP:0000939	Osteoporosis	4	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0003330	HP:0000938	Osteopenia	4	SLC39A13 CL E G H	91252	20859	OMIM:612350	Ehlers-Danlos syndrome, spondylodysplastic type, 3			24
HP:0003330	HP:0000938	Osteopenia	4	SLC39A13 CL E G H	91252	20859	ORPHA:157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		24
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna			5
HP:0003330	HP:0000938	Osteopenia	4	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN	HP:0040283 - Occasional		11
HP:0003330	HP:0000938	Osteopenia	4	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0003330	HP:0002749	Osteomalacia	4	SLC4A1 CL E G H	6521	11027	OMIM:179800	Renal tubular acidosis, distal, autosomal dominant	.		109
HP:0003330	HP:0002748	Rickets	4	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0003330	HP:0000938	Osteopenia	4	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000939	Osteoporosis	4	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000938	Osteopenia	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0003330	HP:0000939	Osteoporosis	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0003330	HP:0000939	Osteoporosis	4	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0003330	HP:0000938	Osteopenia	4	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0003330	HP:0000939	Osteoporosis	4	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0003330	HP:0000939	Osteoporosis	4	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0003330	HP:0000939	Osteoporosis	4	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040284 - Very rare		260
HP:0003330	HP:0000938	Osteopenia	4	SMARCAL1 CL E G H	50485	11102	OMIM:242900	Immunoosseous dysplasia, Schimke type	.		74
HP:0003330	HP:0000938	Osteopenia	4	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0003330	HP:0000938	Osteopenia	4	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0003330	HP:0000939	Osteoporosis	4	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0003330	HP:0000939	Osteoporosis	4	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0003330	HP:0000939	Osteoporosis	4	SMS CL E G H	6611	11123	OMIM:309583	Mental retardation, X-linked, syndromic, Snyder-Robinson type	.		19
HP:0003330	HP:0000939	Osteoporosis	4	SMS CL E G H	6611	11123	ORPHA:3063	X-linked intellectual disability, Snyder type	HP:0040282 - Frequent		19
HP:0003330	HP:0000938	Osteopenia	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000938	Osteopenia	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0000939	Osteoporosis	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0003330	HP:0010655	Epiphyseal stippling	4	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0003330	HP:0000938	Osteopenia	4	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0003330	HP:0000939	Osteoporosis	4	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0003330	HP:0000938	Osteopenia	4	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0003330	HP:0000939	Osteoporosis	4	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0003330	HP:0000938	Osteopenia	4	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0003330	HP:0000939	Osteoporosis	4	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0003330	HP:0011002	Osteopetrosis	4	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0003330	HP:0011002	Osteopetrosis	4	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0003330	HP:0005652	Cortical sclerosis	4	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0003330	HP:0006392	Increased density of long bones	4	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant			26
HP:0003330	HP:0005789	Generalized osteosclerosis	4	SOST CL E G H	50964	13771	ORPHA:3416	Hyperostosis corticalis generalisata	HP:0040281 - Very frequent		26
HP:0003330	HP:0001474	Sclerotic scapulae	4	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0003330	HP:0006415	Cortically dense long tubular bones	4	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.		26
HP:0003330	HP:0000938	Osteopenia	4	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		24
HP:0003330	HP:0000939	Osteoporosis	4	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0003330	HP:0000939	Osteoporosis	4	SOX9 CL E G H	6662	11204	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		109
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0003330	HP:0006628	Absent sternal ossification	4	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0003330	HP:0000939	Osteoporosis	4	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0003330	HP:0000939	Osteoporosis	4	SPARC CL E G H	6678	11219	OMIM:616507	Osteogenesis imperfecta, type XVII	.		2
HP:0003330	HP:0000939	Osteoporosis	4	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0003330	HP:0000939	Osteoporosis	4	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0000938	Osteopenia	4	SPRY4 CL E G H	81848	15533	OMIM:615266	Hypogonadotropic hypogonadism 17 with or without anosmia			5
HP:0003330	HP:0000938	Osteopenia	4	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		5
HP:0003330	HP:0000939	Osteoporosis	4	SPRY4 CL E G H	81848	15533	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		5
HP:0003330	HP:0005686	Patchy osteosclerosis	4	SQSTM1 CL E G H	8878	11280	OMIM:167250	Paget disease of bone 3	.		62
HP:0003330	HP:0000939	Osteoporosis	4	SRC CL E G H	6714	11283	OMIM:616937	Thrombocytopenia 6	HP:0040283 - Occasional		15
HP:0003330	HP:0004054	Sclerosis of hand bone	4	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0000938	Osteopenia	4	SRP54 CL E G H	6729	11301	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0003330	HP:0006598	Irregular ossification at anterior rib ends	4	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0003330	HP:0000939	Osteoporosis	4	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0003330	HP:0000939	Osteoporosis	4	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0003330	HP:0000939	Osteoporosis	4	SRY CL E G H	6736	11311	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		23
HP:0003330	HP:0000938	Osteopenia	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0003330	HP:0000939	Osteoporosis	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0003330	HP:0000938	Osteopenia	4	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C	HP:0040283 - Occasional		89
HP:0003330	HP:0000938	Osteopenia	4	STAT3 CL E G H	6774	11364	ORPHA:2314	Autosomal dominant hyper-IgE syndrome	HP:0040282 - Frequent		110
HP:0003330	HP:0000938	Osteopenia	4	STAT3 CL E G H	6774	11364	OMIM:147060	Hyper-IgE recurrent infection syndrome	.		110
HP:0003330	HP:0002748	Rickets	4	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0003330	HP:0000938	Osteopenia	4	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0003330	HP:0005700	Increased bone density with cystic changes	4	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0003330	HP:0006392	Increased density of long bones	4	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B			86
HP:0003330	HP:0000938	Osteopenia	4	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000939	Osteoporosis	4	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0003330	HP:0000938	Osteopenia	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	STX3 CL E G H	6809	11438	OMIM:619445	DIARRHEA 12, WITH MICROVILLUS ATROPHY; DIAR12			1
HP:0003330	HP:0000938	Osteopenia	4	STX3 CL E G H	6809	11438	OMIM:619446	RETINAL DYSTROPHY AND MICROVILLUS INCLUSION DISEASE; RDMVID			1
HP:0003330	HP:0004280	Irregular ossification of hand bones	4	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0003330	HP:0002749	Osteomalacia	4	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0003330	HP:0000938	Osteopenia	4	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0003330	HP:0000939	Osteoporosis	4	TAC3 CL E G H	6866	11521	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		6
HP:0003330	HP:0000938	Osteopenia	4	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0003330	HP:0000939	Osteoporosis	4	TACR3 CL E G H	6870	11528	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		34
HP:0003330	HP:0000938	Osteopenia	4	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0003330	HP:0000938	Osteopenia	4	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0003330	HP:0000938	Osteopenia	4	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome			52
HP:0003330	HP:0005791	Cortical thickening of long bone diaphyses	4	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0003330	HP:0005686	Patchy osteosclerosis	4	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.		52
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1			52
HP:0003330	HP:0005686	Patchy osteosclerosis	4	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional		52
HP:0003330	HP:0000939	Osteoporosis	4	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0003330	HP:0000938	Osteopenia	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0003330	HP:0000939	Osteoporosis	4	TCF12 CL E G H	6938	11623	OMIM:619718	HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH26			28
HP:0003330	HP:0000938	Osteopenia	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0003330	HP:0000939	Osteoporosis	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0003330	HP:0000938	Osteopenia	4	TCIRG1 CL E G H	10312	11647	ORPHA:486	Autosomal dominant severe congenital neutropenia	HP:0040283 - Occasional		82
HP:0003330	HP:0011002	Osteopetrosis	4	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0003330	HP:0005652	Cortical sclerosis	4	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82
HP:0003330	HP:0005789	Generalized osteosclerosis	4	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0011002	Osteopetrosis	4	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0000939	Osteoporosis	4	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0000939	Osteoporosis	4	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0003330	HP:0000939	Osteoporosis	4	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0003330	HP:0000939	Osteoporosis	4	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0003330	HP:0000939	Osteoporosis	4	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0003330	HP:0000939	Osteoporosis	4	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0003330	HP:0000938	Osteopenia	4	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0003330	HP:0000939	Osteoporosis	4	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0003330	HP:0000939	Osteoporosis	4	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0003330	HP:0002694	Sclerosis of skull base	4	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0005464	Craniofacial osteosclerosis	4	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent		13
HP:0003330	HP:0005791	Cortical thickening of long bone diaphyses	4	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0005791	Cortical thickening of long bone diaphyses	4	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040281 - Very frequent		13
HP:0003330	HP:0006392	Increased density of long bones	4	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0000938	Osteopenia	4	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0003330	HP:0000939	Osteoporosis	4	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0003330	HP:0000939	Osteoporosis	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	HP:0040283 - Occasional		253
HP:0003330	HP:0010655	Epiphyseal stippling	4	THRB CL E G H	7068	11799	OMIM:274300	Thyroid hormone resistance, generalized, autosomal recessive	.		161
HP:0003330	HP:0000939	Osteoporosis	4	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0003330	HP:0000939	Osteoporosis	4	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3	.		60
HP:0003330	HP:0000939	Osteoporosis	4	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0003330	HP:0002748	Rickets	4	TJP2 CL E G H	9414	11828	OMIM:607748	Hypercholanemia, familial	.		149
HP:0003330	HP:0000939	Osteoporosis	4	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0003330	HP:0000938	Osteopenia	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000938	Osteopenia	4	TMEM38B CL E G H	55151	25535	OMIM:615066	OSTEOGENESIS IMPERFECTA, TYPE XIV; OI14			4
HP:0003330	HP:0002694	Sclerosis of skull base	4	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0003330	HP:0000938	Osteopenia	4	TMEM67 CL E G H	91147	28396	OMIM:602152	Rhyns syndrome	.		166
HP:0003330	HP:0000938	Osteopenia	4	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040282 - Frequent		166
HP:0003330	HP:0000939	Osteoporosis	4	TNFRSF11A CL E G H	8792	11908	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		72
HP:0003330	HP:0011002	Osteopetrosis	4	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0003330	HP:0002694	Sclerosis of skull base	4	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0006392	Increased density of long bones	4	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0000939	Osteoporosis	4	TNFRSF11B CL E G H	4982	11909	ORPHA:2801	Juvenile Paget disease	HP:0040281 - Very frequent		44
HP:0003330	HP:0000938	Osteopenia	4	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset			44
HP:0003330	HP:0000939	Osteoporosis	4	TNFRSF11B CL E G H	4982	11909	OMIM:239000	Paget disease of bone 5, juvenile-onset	.		44
HP:0003330	HP:0011002	Osteopetrosis	4	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0003330	HP:0006392	Increased density of long bones	4	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0003330	HP:0011002	Osteopetrosis	4	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0003330	HP:0000939	Osteoporosis	4	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		71
HP:0003330	HP:0000938	Osteopenia	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0003330	HP:0000939	Osteoporosis	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003330	HP:0004054	Sclerosis of hand bone	4	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0000938	Osteopenia	4	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0003330	HP:0000939	Osteoporosis	4	TP53 CL E G H	7157	11998	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		911
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0003330	HP:0000939	Osteoporosis	4	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda			46
HP:0003330	HP:0000938	Osteopenia	4	TREM2 CL E G H	54209	17761	OMIM:618193	POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2			31
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0003330	HP:0000939	Osteoporosis	4	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia			133
HP:0003330	HP:0000939	Osteoporosis	4	TRMT10A CL E G H	93587	28403	OMIM:616033	Microcephaly, short stature, and impaired glucose metabolism 1	HP:0040283 - Occasional		7
HP:0003330	HP:0000938	Osteopenia	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.	HP:0003584 - Late onset	171
HP:0003330	HP:0004054	Sclerosis of hand bone	4	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0000938	Osteopenia	4	TRPS1 CL E G H	7227	12340	OMIM:190351	Trichorhinophalangeal syndrome, type III	.		171
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040281 - Very frequent		214
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0000938	Osteopenia	4	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	4	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0003330	HP:0000938	Osteopenia	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0003330	HP:0000939	Osteoporosis	4	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0003330	HP:0000939	Osteoporosis	4	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type			2
HP:0003330	HP:0000938	Osteopenia	4	UNC80 CL E G H	285175	26582	OMIM:616801	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2			23
HP:0003330	HP:0000938	Osteopenia	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0003330	HP:0000939	Osteoporosis	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0003330	HP:0000938	Osteopenia	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0003330	HP:0000939	Osteoporosis	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0003330	HP:0000938	Osteopenia	4	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0003330	HP:0000939	Osteoporosis	4	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0003330	HP:0000939	Osteoporosis	4	USP48 CL E G H	84196	18533	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		1
HP:0003330	HP:0000939	Osteoporosis	4	USP8 CL E G H	9101	12631	ORPHA:96253	Cushing disease	HP:0040282 - Frequent		7
HP:0003330	HP:0000939	Osteoporosis	4	USP8 CL E G H	9101	12631	OMIM:219090	Pituitary adenoma 4, ACTH-secreting, somatic	.		7
HP:0003330	HP:0000938	Osteopenia	4	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0003330	HP:0006628	Absent sternal ossification	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0003330	HP:0000939	Osteoporosis	4	VAMP7 CL E G H	6845	11486	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		2
HP:0003330	HP:0004330	Increased skull ossification	4	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome			63
HP:0003330	HP:0002749	Osteomalacia	4	VDR CL E G H	7421	12679	ORPHA:93160	Hypocalcemic vitamin D-resistant rickets	HP:0040281 - Very frequent		104
HP:0003330	HP:0002663	Delayed epiphyseal ossification	4	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0003330	HP:0002748	Rickets	4	VDR CL E G H	7421	12679	OMIM:277440	Vitamin d-dependent rickets, type 2A	.		104
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0010655	Epiphyseal stippling	4	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0000938	Osteopenia	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0003330	HP:0000939	Osteoporosis	4	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E			26
HP:0003330	HP:0000938	Osteopenia	4	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		10
HP:0003330	HP:0000939	Osteoporosis	4	WDR11 CL E G H	55717	13831	ORPHA:432	Normosmic congenital hypogonadotropic hypogonadism	HP:0040282 - Frequent		10
HP:0003330	HP:0000939	Osteoporosis	4	WDR19 CL E G H	57728	18340	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		95
HP:0003330	HP:0000939	Osteoporosis	4	WDR35 CL E G H	57539	29250	ORPHA:1515	Cranioectodermal dysplasia	HP:0040281 - Very frequent		136
HP:0003330	HP:0004599	Absent or minimally ossified vertebral bodies	4	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2			199
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II			199
HP:0003330	HP:0000939	Osteoporosis	4	WNT1 CL E G H	7471	12774	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent		12
HP:0003330	HP:0000939	Osteoporosis	4	WNT3A CL E G H	89780	15983	ORPHA:85193	Idiopathic juvenile osteoporosis	HP:0040281 - Very frequent
HP:0003330	HP:0000939	Osteoporosis	4	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0003330	HP:0000939	Osteoporosis	4	WRN CL E G H	7486	12791	OMIM:277700	Werner syndrome	.		310
HP:0003330	HP:0000939	Osteoporosis	4	WRN CL E G H	7486	12791	ORPHA:902	Werner syndrome	HP:0040281 - Very frequent		310
HP:0003330	HP:0000939	Osteoporosis	4	WT1 CL E G H	7490	12796	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		177
HP:0003330	HP:0000939	Osteoporosis	4	WWOX CL E G H	51741	12799	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		149
HP:0003330	HP:0006257	Abnormality of carpal bone ossification	4	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003330	HP:0000939	Osteoporosis	4	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040281 - Very frequent		5
HP:0003330	HP:0000938	Osteopenia	4	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0003330	HP:0000939	Osteoporosis	4	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0003330	HP:0000939	Osteoporosis	4	ZFPM2 CL E G H	23414	16700	ORPHA:251510	46,XY partial gonadal dysgenesis	HP:0040281 - Very frequent		31
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0010177	Osteolytic defects of the phalanges of the toes	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0000938	Osteopenia	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0003330	HP:0009771	Osteolytic defects of the phalanges of the hand	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0000939	Osteoporosis	4	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040282 - Frequent		397
HP:0003330	HP:0000938	Osteopenia	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0003330	HP:0000938	Osteopenia	4	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0000939	Osteoporosis	4	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003840	Delayed upper limb epiphyseal ossification	5	CL E G H
HP:0003330	HP:0003881	Humeral sclerosis	5	CL E G H
HP:0003330	HP:0004195	Osteolytic defects of the phalanges of the 4th finger	5	CL E G H
HP:0003330	HP:0004216	Osteolytic defects of the phalanges of the 5th finger	5	CL E G H
HP:0003330	HP:0004253	Absent trapezium	5	CL E G H
HP:0003330	HP:0004291	Stippled calcification of hand bones	5	CL E G H
HP:0003330	HP:0005885	Absent ossification of cervical vertebral bodies	5	CL E G H
HP:0003330	HP:0006370	Distal ulnar epiphyseal stippling	5	CL E G H
HP:0003330	HP:0009195	Epiphyseal stippling of the metacarpals	5	CL E G H
HP:0003330	HP:0009391	Stippling of the epiphyses of the 5th finger	5	CL E G H
HP:0003330	HP:0009402	Stippling of the epiphyses of the 4th finger	5	CL E G H
HP:0003330	HP:0009419	Stippling of the epiphyses of the 3rd finger	5	CL E G H
HP:0003330	HP:0009443	Osteolytic defects of the phalanges of the 3rd finger	5	CL E G H
HP:0003330	HP:0009497	Stippling of the epiphyses of the 2nd finger	5	CL E G H
HP:0003330	HP:0009550	Osteolytic defects of the phalanges of the 2nd finger	5	CL E G H
HP:0003330	HP:0009654	Osteolytic defect of thumb phalanx	5	CL E G H
HP:0003330	HP:0009847	Osteolytic defects of the middle phalanges of the hand	5	CL E G H
HP:0003330	HP:0009855	Osteolytic defects of the proximal phalanges of the hand	5	CL E G H
HP:0003330	HP:0010021	Ivory epiphysis of the 1st metacarpal	5	CL E G H
HP:0003330	HP:0010024	Epiphyseal stippling of the first metacarpal	5	CL E G H
HP:0003330	HP:0010062	Osteolytic defects of the phalanges of the hallux	5	CL E G H
HP:0003330	HP:0010071	Osteolytic defects of the 1st metatarsal	5	CL E G H
HP:0003330	HP:0010178	Patchy sclerosis of toe phalanx	5	CL E G H
HP:0003330	HP:0010198	Osteolytic defects of the middle phalanges of the toes	5	CL E G H
HP:0003330	HP:0010207	Osteolytic defect of the proximal toe phalanx	5	CL E G H
HP:0003330	HP:0010266	Stippling of the epiphyses of the middle phalanges of the hand	5	CL E G H
HP:0003330	HP:0010277	Stippling of the epiphyses of the proximal phalanges of the hand	5	CL E G H
HP:0003330	HP:0010351	Osteolytic defects of the phalanges of the 2nd toe	5	CL E G H
HP:0003330	HP:0010363	Osteolytic defects of the phalanges of the 3rd toe	5	CL E G H
HP:0003330	HP:0010375	Osteolytic defects of the phalanges of the 4th toe	5	CL E G H
HP:0003330	HP:0010387	Osteolytic defects of the phalanges of the 5th toe	5	CL E G H
HP:0003330	HP:0011836	Delayed talus ossification	5	CL E G H
HP:0003330	HP:0012792	Absent ossification of thoracic vertebral bodies	5	CL E G H
HP:0003330	HP:0045001	Abnormal ossification of the trapezium	5	CL E G H
HP:0003330	HP:0045004	Abnormal ossification of the trapezoid bone	5	CL E G H
HP:0003330	HP:0100924	Sclerosis of toe phalanx	5	CL E G H
HP:0003330	HP:0500031	Sclerosis of the carpal bones	5	CL E G H
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2	HP:0040283 - Occasional		415
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0003330	HP:0009164	Abnormal calcification of the carpal bones	5	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0003330	HP:0004606	Unossified vertebral bodies	5	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.		164
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia			304
HP:0003330	HP:0004695	Calcaneal epiphyseal stippling	5	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003330	HP:0010171	Epiphyseal stippling of toe phalanges	5	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003330	HP:0010237	Epiphyseal stippling of finger phalanges	5	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0003330	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	5	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	B3GALT6 CL E G H	126792	17978	OMIM:615349	Ehlers-Danlos syndrome, spondylodysplastic type, 2	.		38
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0003330	HP:0040160	Generalized osteoporosis	5	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		5
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome	.		22
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	BGN CL E G H	633	1044	OMIM:300106	Spondyloepimetaphyseal dysplasia, X-linked	.		7
HP:0003330	HP:0040161	Localized osteoporosis	5	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis			16
HP:0003330	HP:0004606	Unossified vertebral bodies	5	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0003330	HP:0009695	Stippling of thumb epiphysis	5	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0010237	Epiphyseal stippling of finger phalanges	5	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	5	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0040161	Localized osteoporosis	5	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1			85
HP:0003330	HP:0008108	Advanced tarsal ossification	5	CANT1 CL E G H	124583	19721	OMIM:251450	Desbuquois dysplasia 1	.		85
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	CANT1 CL E G H	124583	19721	OMIM:617719	EPIPHYSEAL DYSPLASIA, MULTIPLE, 7; EDM7			85
HP:0003330	HP:0040160	Generalized osteoporosis	5	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0003330	HP:0040160	Generalized osteoporosis	5	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040283 - Occasional
HP:0003330	HP:0040160	Generalized osteoporosis	5	CDC73 CL E G H	79577	16783	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		169
HP:0003330	HP:0040160	Generalized osteoporosis	5	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	HP:0040283 - Occasional		165
HP:0003330	HP:0006067	Multiple carpal ossification centers	5	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	CLCN5 CL E G H	1184	2023	OMIM:300554	Hypophosphatemic rickets, X-linked recessive	.		112
HP:0003330	HP:0005746	Osteosclerosis of the base of the skull	5	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		102
HP:0003330	HP:0040160	Generalized osteoporosis	5	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III			373
HP:0003330	HP:0040160	Generalized osteoporosis	5	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III			243
HP:0003330	HP:0004605	Absent vertebral body mineralization	5	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040282 - Frequent		284
HP:0003330	HP:0004605	Absent vertebral body mineralization	5	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0003330	HP:0040160	Generalized osteoporosis	5	COL2A1 CL E G H	1280	2200	OMIM:608805	Avascular necrosis of femoral head, primary, 1	HP:0040283 - Occasional		284
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional		284
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	COL2A1 CL E G H	1280	2200	OMIM:184250	Spondyloepimetaphyseal dysplasia, Strudwick type	.		284
HP:0003330	HP:0008103	Delayed tarsal ossification	5	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita			284
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	COL2A1 CL E G H	1280	2200	ORPHA:1856	Spondyloperipheral dysplasia-short ulna syndrome	HP:0040282 - Frequent		284
HP:0003330	HP:0001842	Foot acroosteolysis	5	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	CTSK CL E G H	1513	2536	OMIM:265800	PYCNODYSOSTOSIS	.		39
HP:0003330	HP:0009164	Abnormal calcification of the carpal bones	5	DDR2 CL E G H	4921	2731	OMIM:271665	Spondylometaepiphyseal dysplasia, short Limb-Hand type	.		45
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate		48
HP:0003330	HP:0006463	Rickets of the lower limbs	5	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		48
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	DMP1 CL E G H	1758	2932	OMIM:241520	Hypophosphatemic rickets, autosomal recessive	.		48
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	DVL1 CL E G H	1855	3084	OMIM:616331	Robinow syndrome, autosomal dominant 2			14
HP:0003330	HP:0004997	Multicentric ossification of proximal humeral epiphyses	5	DYM CL E G H	54808	21317	OMIM:223800	Dyggve-Melchior-Clausen disease	.		65
HP:0003330	HP:0004241	Stippled calcification in carpal bones	5	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0003330	HP:0008131	Tarsal stippling	5	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0003330	HP:0009164	Abnormal calcification of the carpal bones	5	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0031051	Tarsal sclerosis	5	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0003330	HP:0005756	Neonatal epiphyseal stippling	5	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	EHHADH CL E G H	1962	3247	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		2
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0003330	HP:0008134	Irregular tarsal ossification	5	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1	HP:0040283 - Occasional		151
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040280 - Obligate		151
HP:0003330	HP:0006463	Rickets of the lower limbs	5	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent		151
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0003330	HP:0009164	Abnormal calcification of the carpal bones	5	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	ENPP1 CL E G H	5167	3356	OMIM:613312	Hypophosphatemic rickets, autosomal recessive, 2	.		151
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3			3
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	.		3
HP:0003330	HP:0006463	Rickets of the lower limbs	5	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional		107
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	FAM111A CL E G H	63901	24725	ORPHA:93325	Autosomal dominant Kenny-Caffey syndrome	HP:0040282 - Frequent		8
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	FGF23 CL E G H	8074	3680	OMIM:193100	Hypophosphatemic rickets, autosomal dominant	.		51
HP:0003330	HP:0030042	Incomplete ossification of pubis	5	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040281 - Very frequent		175
HP:0003330	HP:0008785	Delayed ossification of pubic rami	5	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0003330	HP:0006440	Increased density of long bone diaphyses	5	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0003330	HP:0008087	Nonossified fifth metatarsal	5	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0003330	HP:0003902	Epiphyseal stippling of the humerus	5	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0003330	HP:0100856	Poorly ossified vertebrae	5	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040281 - Very frequent		233
HP:0003330	HP:0006067	Multiple carpal ossification centers	5	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0003330	HP:0040161	Localized osteoporosis	5	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms
HP:0003330	HP:0040161	Localized osteoporosis	5	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis			50
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	GATM CL E G H	2628	4175	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		86
HP:0003330	HP:0040160	Generalized osteoporosis	5	GCM2 CL E G H	9247	4198	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		51
HP:0003330	HP:0009695	Stippling of thumb epiphysis	5	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0010237	Epiphyseal stippling of finger phalanges	5	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	5	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0004281	Irregular sclerosis of hand bones	5	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0009772	Patchy sclerosis of finger phalanx	5	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome			199
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome			56
HP:0003330	HP:0040161	Localized osteoporosis	5	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			173
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	GNAS CL E G H	2778	4392	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		101
HP:0003330	HP:0006176	Two carpal ossification centers present at birth	5	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0003330	HP:0006176	Two carpal ossification centers present at birth	5	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0003330	HP:0008785	Delayed ossification of pubic rami	5	GSC CL E G H	145258	4612	OMIM:602471	Short stature, auditory canal atresia, mandibular hypoplasia, andskeletal abnormalities	.		3
HP:0003330	HP:0040161	Localized osteoporosis	5	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			21
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0003330	HP:0000250	Dense calvaria	5	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.		11
HP:0003330	HP:0008103	Delayed tarsal ossification	5	HOXA13 CL E G H	3209	5102	OMIM:140000	Hand-Foot-Genital syndrome	.		11
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	HRAS CL E G H	3265	5173	ORPHA:2874	Phakomatosis pigmentokeratotica			113
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	HRAS CL E G H	3265	5173	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		113
HP:0003330	HP:0040161	Localized osteoporosis	5	HTRA1 CL E G H	5654	9476	ORPHA:199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy			34
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	IHH CL E G H	3549	5956	OMIM:607778	Acrocapitofemoral dysplasia			44
HP:0003330	HP:0008108	Advanced tarsal ossification	5	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional		18
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0003330	HP:0006016	Delayed phalangeal epiphyseal ossification	5	KCNH1 CL E G H	3756	6250	ORPHA:420561	Temple-Baraitser syndrome	HP:0040283 - Occasional		13
HP:0003330	HP:0001842	Foot acroosteolysis	5	KIF1A CL E G H	547	888	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		276
HP:0003330	HP:0001842	Foot acroosteolysis	5	KIF1A CL E G H	547	888	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		276
HP:0003330	HP:0006016	Delayed phalangeal epiphyseal ossification	5	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.		14
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	KL CL E G H	9365	6344	OMIM:617994	TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3			68
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	KRAS CL E G H	3845	6407	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		196
HP:0003330	HP:0004240	Sclerotic foci within carpal bones	5	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0004281	Irregular sclerosis of hand bones	5	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0009164	Abnormal calcification of the carpal bones	5	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0031051	Tarsal sclerosis	5	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0003330	HP:0040161	Localized osteoporosis	5	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			43
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0003330	HP:0001842	Foot acroosteolysis	5	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0010189	Osteolytic defects of the distal phalanges of the toes	5	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0003330	HP:0040160	Generalized osteoporosis	5	LMNA CL E G H	4000	6636	OMIM:176670	Hutchinson-Gilford progeria syndrome	.		645
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0003330	HP:0001842	Foot acroosteolysis	5	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003330	HP:0010189	Osteolytic defects of the distal phalanges of the toes	5	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0003330	HP:0001842	Foot acroosteolysis	5	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0003330	HP:0010189	Osteolytic defects of the distal phalanges of the toes	5	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy			645
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0003330	HP:0008114	Metatarsal diaphyseal endosteal sclerosis	5	LRP5 CL E G H	4041	6697	OMIM:144750	Hyperostosis, endosteal	.		125
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	LRP5 CL E G H	4041	6697	OMIM:607634	Osteopetrosis, autosomal dominant 1			125
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.		32
HP:0003330	HP:0008103	Delayed tarsal ossification	5	MATN3 CL E G H	4148	6909	OMIM:607078	Epiphyseal dysplasia, multiple, 5	.		32
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040281 - Very frequent		32
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	MBTPS1 CL E G H	8720	15456	OMIM:618392	Spondyloepiphyseal dysplasia, Kondo-Fu type	.
HP:0003330	HP:0040160	Generalized osteoporosis	5	MEN1 CL E G H	4221	7010	ORPHA:99879	Familial isolated hyperparathyroidism	HP:0040281 - Very frequent		462
HP:0003330	HP:0040160	Generalized osteoporosis	5	MMP14 CL E G H	4323	7160	OMIM:277950	Winchester syndrome	.		2
HP:0003330	HP:0040161	Localized osteoporosis	5	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis			25
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma			85
HP:0003330	HP:0001842	Foot acroosteolysis	5	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0003330	HP:0010189	Osteolytic defects of the distal phalanges of the toes	5	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0003330	HP:0000250	Dense calvaria	5	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	NDUFAF6 CL E G H	137682	28625	OMIM:618913	FANCONI RENOTUBULAR SYNDROME 5; FRTS5			39
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	NDUFAF6 CL E G H	137682	28625	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		39
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003330	HP:0031051	Tarsal sclerosis	5	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia	.		10
HP:0003330	HP:0001842	Foot acroosteolysis	5	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0003330	HP:0040161	Localized osteoporosis	5	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis			38
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	NRAS CL E G H	4893	7989	OMIM:163200	Schimmelpenning-Feuerstein-Mims syndrome	.		102
HP:0003330	HP:0040161	Localized osteoporosis	5	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis			5
HP:0003330	HP:0040161	Localized osteoporosis	5	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			41
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	PHEX CL E G H	5251	8918	OMIM:307800	Hypophosphatemic rickets, X-linked dominant	.		217
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0003330	HP:0005746	Osteosclerosis of the base of the skull	5	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		2
HP:0003330	HP:0040161	Localized osteoporosis	5	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55			1
HP:0003330	HP:0040161	Localized osteoporosis	5	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			36
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0003330	HP:0005756	Neonatal epiphyseal stippling	5	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0003330	HP:0040161	Localized osteoporosis	5	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms			54
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0003330	HP:0040161	Localized osteoporosis	5	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism			54
HP:0003330	HP:0040161	Localized osteoporosis	5	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0005477	Progressive sclerosis of skull base	5	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.		6
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0003330	HP:0008108	Advanced tarsal ossification	5	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0008103	Delayed tarsal ossification	5	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome			58
HP:0003330	HP:0001842	Foot acroosteolysis	5	RETREG1 CL E G H	54463	25964	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		54
HP:0003330	HP:0001842	Foot acroosteolysis	5	RETREG1 CL E G H	54463	25964	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		54
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	RMRP CL E G H	6023	10031	OMIM:607095	Anauxetic dysplasia	.		37
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	RUNX2 CL E G H	860	10472	OMIM:119600	Cleidocranial dysplasia	.		90
HP:0003330	HP:0040161	Localized osteoporosis	5	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly			90
HP:0003330	HP:0040160	Generalized osteoporosis	5	SATB2 CL E G H	23314	21637	OMIM:612313	Glass syndrome			34
HP:0003330	HP:0001842	Foot acroosteolysis	5	SCN9A CL E G H	6335	10597	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		318
HP:0003330	HP:0001842	Foot acroosteolysis	5	SCN9A CL E G H	6335	10597	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		318
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.		60
HP:0003330	HP:0000250	Dense calvaria	5	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0003330	HP:0008788	Delayed pubic bone ossification	5	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	SLC10A7 CL E G H	84068	23088	OMIM:618363	Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis	.
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	SLC34A1 CL E G H	6569	11019	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent		47
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	SLC34A1 CL E G H	6569	11019	ORPHA:3337	Primary Fanconi renotubular syndrome	HP:0040282 - Frequent		47
HP:0003330	HP:0004241	Stippled calcification in carpal bones	5	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0003330	HP:0009164	Abnormal calcification of the carpal bones	5	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	SLC34A3 CL E G H	142680	20305	ORPHA:157215	Hereditary hypophosphatemic rickets with hypercalciuria	HP:0040281 - Very frequent		52
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	SLC34A3 CL E G H	142680	20305	OMIM:241530	Hypophosphatemic rickets with hypercalciuria, hereditary	.		52
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0003330	HP:0008108	Advanced tarsal ossification	5	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0003330	HP:0008108	Advanced tarsal ossification	5	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040283 - Occasional		9
HP:0003330	HP:0005746	Osteosclerosis of the base of the skull	5	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	.		5
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0003330	HP:0004695	Calcaneal epiphyseal stippling	5	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	SOST CL E G H	50964	13771	OMIM:122860	Craniodiaphyseal dysplasia, autosomal dominant	.		26
HP:0003330	HP:0040161	Localized osteoporosis	5	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism			24
HP:0003330	HP:0100856	Poorly ossified vertebrae	5	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0003330	HP:0100856	Poorly ossified vertebrae	5	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia			109
HP:0003330	HP:0040160	Generalized osteoporosis	5	SP7 CL E G H	121340	17321	OMIM:613849	Osteogenesis imperfecta, type XII	.		34
HP:0003330	HP:0040161	Localized osteoporosis	5	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis			2
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0040160	Generalized osteoporosis	5	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0003330	HP:0004912	Hypophosphatemic rickets	5	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	STX16 CL E G H	8675	11431	ORPHA:94089	Pseudohypoparathyroidism type 1B	HP:0040283 - Occasional		86
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	TBCE CL E G H	6905	11582	ORPHA:93324	Autosomal recessive Kenny-Caffey syndrome	HP:0040282 - Frequent		52
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	TBCE CL E G H	6905	11582	OMIM:244460	Kenny-caffey syndrome, type 1	.		52
HP:0003330	HP:0005746	Osteosclerosis of the base of the skull	5	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040282 - Frequent		82
HP:0003330	HP:0005450	Calvarial osteosclerosis	5	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0003330	HP:0040160	Generalized osteoporosis	5	TENT5A CL E G H	55603	18345	OMIM:617952	Osteogenesis imperfecta, type XVIII
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease			13
HP:0003330	HP:0003991	Osteosclerosis of the ulna	5	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset			72
HP:0003330	HP:0003034	Diaphyseal sclerosis	5	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0003330	HP:0040160	Generalized osteoporosis	5	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0003330	HP:0040161	Localized osteoporosis	5	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040283 - Occasional		46
HP:0003330	HP:0004606	Unossified vertebral bodies	5	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.		133
HP:0003330	HP:0100899	Sclerosis of finger phalanx	5	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	TRPV4 CL E G H	59341	18083	OMIM:184252	Spondylometaphyseal dysplasia, Kozlowski type			214
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0003330	HP:0008828	Delayed proximal femoral epiphyseal ossification	5	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040283 - Occasional		97
HP:0003330	HP:0001216	Delayed ossification of carpal bones	5	UFSP2 CL E G H	55325	25640	OMIM:617974	Spondyloepimetaphyseal dysplasia, DI Rocco type	.		2
HP:0003330	HP:0004563	Increased spinal bone density	5	VCP CL E G H	7415	12666	ORPHA:329475	Spastic paraplegia-Paget disease of bone syndrome	HP:0040281 - Very frequent		63
HP:0003330	HP:0100856	Poorly ossified vertebrae	5	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0003330	HP:0001842	Foot acroosteolysis	5	WNK1 CL E G H	65125	14540	ORPHA:970	Hereditary sensory and autonomic neuropathy type 2	HP:0040281 - Very frequent		199
HP:0003330	HP:0001842	Foot acroosteolysis	5	WNK1 CL E G H	65125	14540	OMIM:201300	Neuropathy, hereditary sensory and autonomic, type II	.		199
HP:0003330	HP:0004233	Advanced ossification of carpal bones	5	XYLT1 CL E G H	64131	15516	OMIM:615777	Desbuquois dysplasia 2			14
HP:0003330	HP:0040160	Generalized osteoporosis	5	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.		17
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0003330	HP:0001842	Foot acroosteolysis	5	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0001842	Foot acroosteolysis	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003330	HP:0010189	Osteolytic defects of the distal phalanges of the toes	5	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0010189	Osteolytic defects of the distal phalanges of the toes	5	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy			83
HP:0003330	HP:0009839	Osteolytic defects of the distal phalanges of the hand	5	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0003330	HP:0040161	Localized osteoporosis	5	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis
HP:0003330	HP:0003860	Diaphyseal sclerosis of the upper limbs	6	CL E G H
HP:0003330	HP:0003880	Sclerotic foci of the humerus	6	CL E G H
HP:0003330	HP:0003894	Delayed humeral epiphyseal ossification	6	CL E G H
HP:0003330	HP:0003947	Delayed elbow epiphyseal ossification	6	CL E G H
HP:0003330	HP:0004234	Bone-in-a-bone appearance of carpal bones	6	CL E G H
HP:0003330	HP:0004246	Delayed ossification of the scaphoid	6	CL E G H
HP:0003330	HP:0004254	Delayed ossification of the trapezium	6	CL E G H
HP:0003330	HP:0004257	Delayed ossification of the trapezoid bone	6	CL E G H
HP:0003330	HP:0004290	Sclerosis of hand bones with transverse striations	6	CL E G H
HP:0003330	HP:0005653	Moderate generalized osteoporosis	6	CL E G H
HP:0003330	HP:0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	6	CL E G H
HP:0003330	HP:0009170	Osteolytic defects of the middle phalanx of the 5th finger	6	CL E G H
HP:0003330	HP:0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	6	CL E G H
HP:0003330	HP:0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	6	CL E G H
HP:0003330	HP:0009223	Stippling of the epiphysis of the middle phalanx of the 4th finger	6	CL E G H
HP:0003330	HP:0009230	Osteolytic defects of the proximal phalanx of the 5th finger	6	CL E G H
HP:0003330	HP:0009242	Osteolytic defects of the distal phalanx of the 5th finger	6	CL E G H
HP:0003330	HP:0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	6	CL E G H
HP:0003330	HP:0009270	Stippling of the epiphysis of the proximal phalanx of the 4th finger	6	CL E G H
HP:0003330	HP:0009297	Osteolytic defects of the middle phalanx of the 4th finger	6	CL E G H
HP:0003330	HP:0009303	Osteolytic defects of the distal phalanx of the 4th finger	6	CL E G H
HP:0003330	HP:0009312	Osteolytic defects of the proximal phalanx of the 4th finger	6	CL E G H
HP:0003330	HP:0009330	Stippling of the epiphysis of the middle phalanx of the 3rd finger	6	CL E G H
HP:0003330	HP:0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	6	CL E G H
HP:0003330	HP:0009355	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	6	CL E G H
HP:0003330	HP:0009377	Patchy sclerosis of 5th finger phalanx	6	CL E G H
HP:0003330	HP:0009391	Stippling of the epiphyses of the 5th finger	6	CL E G H
HP:0003330	HP:0009402	Stippling of the epiphyses of the 4th finger	6	CL E G H
HP:0003330	HP:0009406	Patchy sclerosis of 4th finger phalanx	6	CL E G H
HP:0003330	HP:0009419	Stippling of the epiphyses of the 3rd finger	6	CL E G H
HP:0003330	HP:0009424	Osteolytic defects of the distal phalanx of the 3rd finger	6	CL E G H
HP:0003330	HP:0009433	Osteolytic defects of the middle phalanx of the 3rd finger	6	CL E G H
HP:0003330	HP:0009444	Patchy sclerosis of 3rd finger phalanx	6	CL E G H
HP:0003330	HP:0009453	Osteolytic defects of the proximal phalanx of the 3rd finger	6	CL E G H
HP:0003330	HP:0009497	Stippling of the epiphyses of the 2nd finger	6	CL E G H
HP:0003330	HP:0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	6	CL E G H
HP:0003330	HP:0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	6	CL E G H
HP:0003330	HP:0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	6	CL E G H
HP:0003330	HP:0009551	Patchy sclerosis of 2nd finger phalanx	6	CL E G H
HP:0003330	HP:0009561	Osteolytic defects of the distal phalanx of the 2nd finger	6	CL E G H
HP:0003330	HP:0009572	Osteolytic defects of the middle phalanx of the 2nd finger	6	CL E G H
HP:0003330	HP:0009584	Osteolytic defects of the proximal phalanx of the 2nd finger	6	CL E G H
HP:0003330	HP:0009633	Osteolytic defect of the proximal phalanx of the thumb	6	CL E G H
HP:0003330	HP:0009645	Osteolytic defect of the distal phalanx of the thumb	6	CL E G H
HP:0003330	HP:0009655	Patchy sclerosis of thumb phalanx	6	CL E G H
HP:0003330	HP:0009673	Stippling of the epiphysis of the proximal phalanx of the thumb	6	CL E G H
HP:0003330	HP:0009840	Patchy sclerosis of distal phalanx of finger	6	CL E G H
HP:0003330	HP:0009848	Patchy sclerosis of middle phalanx of finger	6	CL E G H
HP:0003330	HP:0009856	Patchy sclerosis of proximal phalanx of finger	6	CL E G H
HP:0003330	HP:0010024	Epiphyseal stippling of the first metacarpal	6	CL E G H
HP:0003330	HP:0010063	Patchy sclerosis of hallux phalanx	6	CL E G H
HP:0003330	HP:0010071	Osteolytic defects of the 1st metatarsal	6	CL E G H
HP:0003330	HP:0010080	Osteolytic defects of the distal phalanx of the hallux	6	CL E G H
HP:0003330	HP:0010089	Osteolytic defects of the proximal phalanx of the hallux	6	CL E G H
HP:0003330	HP:0010122	Stippling of the epiphyses of the hallux	6	CL E G H
HP:0003330	HP:0010178	Patchy sclerosis of toe phalanx	6	CL E G H
HP:0003330	HP:0010190	Patchy sclerosis of distal toe phalanx	6	CL E G H
HP:0003330	HP:0010199	Patchy sclerosis of middle toe phalanx	6	CL E G H
HP:0003330	HP:0010208	Patchy sclerosis of proximal toe phalanx	6	CL E G H
HP:0003330	HP:0010266	Stippling of the epiphyses of the middle phalanges of the hand	6	CL E G H
HP:0003330	HP:0010277	Stippling of the epiphyses of the proximal phalanges of the hand	6	CL E G H
HP:0003330	HP:0010352	Patchy sclerosis of 2nd toe phalanx	6	CL E G H
HP:0003330	HP:0010364	Patchy sclerosis of 3rd toe phalanx	6	CL E G H
HP:0003330	HP:0010376	Patchy sclerosis of 4th toe phalanx	6	CL E G H
HP:0003330	HP:0010388	Patchy sclerosis of 5th toe phalanx	6	CL E G H
HP:0003330	HP:0010399	Osteolytic defects of the proximal phalanx of the 2nd toe	6	CL E G H
HP:0003330	HP:0010408	Osteolytic defects of the middle phalanx of the 2nd toe	6	CL E G H
HP:0003330	HP:0010417	Osteolytic defects of the distal phalanx of the 2nd toe	6	CL E G H
HP:0003330	HP:0045002	Absent ossification of the trapezium	6	CL E G H
HP:0003330	HP:0100053	Stippling of the epiphyses of the 2nd toe	6	CL E G H
HP:0003330	HP:0100064	Stippling of the epiphyses of the 3rd toe	6	CL E G H
HP:0003330	HP:0100075	Stippling of the epiphyses of the 4th toe	6	CL E G H
HP:0003330	HP:0100086	Stippling of the epiphyses of the 5th toe	6	CL E G H
HP:0003330	HP:0100452	Osteolytic defects of the middle phalanx of the 3rd toe	6	CL E G H
HP:0003330	HP:0100453	Osteolytic defects of the middle phalanx of the 4th toe	6	CL E G H
HP:0003330	HP:0100454	Osteolytic defects of the middle phalanx of the 5th toe	6	CL E G H
HP:0003330	HP:0100455	Osteolytic defects of the proximal phalanx of the 3rd toe	6	CL E G H
HP:0003330	HP:0100456	Osteolytic defects of the proximal phalanx of the 4th toe	6	CL E G H
HP:0003330	HP:0100457	Osteolytic defects of the proximal phalanx of the 5th toe	6	CL E G H
HP:0003330	HP:0100458	Osteolytic defects of the distal phalanx of the 3rd toe	6	CL E G H
HP:0003330	HP:0100459	Osteolytic defects of the distal phalanx of the 4th toe	6	CL E G H
HP:0003330	HP:0100460	Osteolytic defects of the distal phalanx of the 5th toe	6	CL E G H
HP:0003330	HP:0100916	Sclerosis of middle finger phalanx	6	CL E G H
HP:0003330	HP:0100917	Sclerosis of proximal finger phalanx	6	CL E G H
HP:0003330	HP:0100918	Sclerosis of 2nd finger phalanx	6	CL E G H
HP:0003330	HP:0100919	Sclerosis of 3rd finger phalanx	6	CL E G H
HP:0003330	HP:0100920	Sclerosis of 4th finger phalanx	6	CL E G H
HP:0003330	HP:0100921	Sclerosis of 5th finger phalanx	6	CL E G H
HP:0003330	HP:0100922	Sclerosis of thumb phalanx	6	CL E G H
HP:0003330	HP:0100926	Sclerosis of 2nd toe phalanx	6	CL E G H
HP:0003330	HP:0100927	Sclerosis of 3rd toe phalanx	6	CL E G H
HP:0003330	HP:0100928	Sclerosis of 4th toe phalanx	6	CL E G H
HP:0003330	HP:0100929	Sclerosis of 5th toe phalanx	6	CL E G H
HP:0003330	HP:0100930	Sclerosis of hallux phalanx	6	CL E G H
HP:0003330	HP:0100946	Sclerosis of proximal toe phalanx	6	CL E G H
HP:0003330	HP:0100947	Sclerosis of middle toe phalanx	6	CL E G H
HP:0003330	HP:0100948	Sclerosis of distal toe phalanx	6	CL E G H
HP:0003330	HP:0005045	Diaphyseal cortical sclerosis	6	ANO5 CL E G H	203859	27337	OMIM:166260	Gnathodiaphyseal dysplasia	.		304
HP:0003330	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	6	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040283 - Occasional
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	BMP15 CL E G H	9210	1068	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		16
HP:0003330	HP:0008435	Absent in utero ossification of vertebral bodies	6	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0003330	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	6	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent		90
HP:0003330	HP:0009695	Stippling of thumb epiphysis	6	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	6	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C			90
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	BNC1 CL E G H	646	1081	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0005897	Severe generalized osteoporosis	6	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.		373
HP:0003330	HP:0005897	Severe generalized osteoporosis	6	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.		243
HP:0003330	HP:0008142	Delayed calcaneal ossification	6	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.		284
HP:0003330	HP:0004241	Stippled calcification in carpal bones	6	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0003330	HP:0008131	Tarsal stippling	6	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0003330	HP:0010234	Ivory epiphyses of the phalanges of the hand	6	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0003330	HP:0010234	Ivory epiphyses of the phalanges of the hand	6	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0003330	HP:0010234	Ivory epiphyses of the phalanges of the hand	6	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	FOXA2 CL E G H	3170	5022	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	FSHR CL E G H	2492	3969	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		50
HP:0003330	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	6	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent		52
HP:0003330	HP:0009695	Stippling of thumb epiphysis	6	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0010255	Stippling of the epiphyses of the distal phalanges of the hand	6	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C			52
HP:0003330	HP:0004286	Patchy sclerosis of hand bones	6	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive			68
HP:0003330	HP:0009772	Patchy sclerosis of finger phalanx	6	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	GLI2 CL E G H	2736	4318	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		173
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	HESX1 CL E G H	8820	4877	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		21
HP:0003330	HP:0004240	Sclerotic foci within carpal bones	6	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0004289	Sclerotic foci in hand bones	6	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	LHX4 CL E G H	89884	21734	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		43
HP:0003330	HP:0001870	Acroosteolysis of distal phalanges (feet)	6	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0003330	HP:0001870	Acroosteolysis of distal phalanges (feet)	6	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia	.		645
HP:0003330	HP:0001870	Acroosteolysis of distal phalanges (feet)	6	LMNA CL E G H	4000	6636	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent		645
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	MRPS22 CL E G H	56945	14508	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		25
HP:0003330	HP:0005045	Diaphyseal cortical sclerosis	6	MTAP CL E G H	4507	7413	OMIM:112250	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	.		85
HP:0003330	HP:0001870	Acroosteolysis of distal phalanges (feet)	6	MTX2 CL E G H	10651	7506	ORPHA:90153	Mandibuloacral dysplasia with type A lipodystrophy	HP:0040281 - Very frequent
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	NR5A1 CL E G H	2516	7983	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		38
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	NUP107 CL E G H	57122	29914	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		5
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	OTX2 CL E G H	5015	8522	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		41
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	POLR3H CL E G H	171568	30349	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	POU1F1 CL E G H	5449	9210	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		36
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	PROP1 CL E G H	5626	9455	ORPHA:95494	Combined pituitary hormone deficiencies, genetic forms	HP:0040283 - Occasional		54
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	PROP1 CL E G H	5626	9455	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		54
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	PSMC3IP CL E G H	29893	17928	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	RUNX2 CL E G H	860	10472	OMIM:156510	Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly	.		90
HP:0003330	HP:0004241	Stippled calcification in carpal bones	6	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	SOX3 CL E G H	6658	11199	ORPHA:90695	Non-acquired panhypopituitarism	HP:0040283 - Occasional		24
HP:0003330	HP:0008477	Poorly ossified cervical vertebrae	6	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0003330	HP:0008477	Poorly ossified cervical vertebrae	6	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040281 - Very frequent		109
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	SPIDR CL E G H	23514	28971	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent		2
HP:0003330	HP:0100915	Sclerosis of distal finger phalanx	6	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0010234	Ivory epiphyses of the phalanges of the hand	6	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0010234	Ivory epiphyses of the phalanges of the hand	6	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0003330	HP:0100915	Sclerosis of distal finger phalanx	6	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0010234	Ivory epiphyses of the phalanges of the hand	6	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I			171
HP:0003330	HP:0001870	Acroosteolysis of distal phalanges (feet)	6	ZMPSTE24 CL E G H	10269	12877	ORPHA:90154	Mandibuloacral dysplasia with type B lipodystrophy	HP:0040281 - Very frequent		83
HP:0003330	HP:0001870	Acroosteolysis of distal phalanges (feet)	6	ZMPSTE24 CL E G H	10269	12877	OMIM:608612	Mandibuloacral dysplasia with type B lipodystrophy	.		83
HP:0003330	HP:0005625	Osteoporosis of vertebrae	6	ZSWIM7 CL E G H	125150	26993	ORPHA:243	46,XX gonadal dysgenesis	HP:0040282 - Frequent
HP:0003330	HP:0003933	Sclerosis of humeral diaphysis	7	CL E G H
HP:0003330	HP:0009165	Stippling of the epiphysis of the distal phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0009175	Patchy sclerosis of the middle phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0009201	Stippling of the epiphysis of the proximal phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0009212	Stippling of the epiphysis of the middle phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0009223	Stippling of the epiphysis of the middle phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0009231	Patchy sclerosis of the proximal phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0009243	Patchy sclerosis of the distal phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0009259	Stippling of the epiphysis of the distal phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0009270	Stippling of the epiphysis of the proximal phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0009304	Patchy sclerosis of the distal phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0009307	Patchy sclerosis of the middle phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0009313	Patchy sclerosis of the proximal phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0009330	Stippling of the epiphysis of the middle phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0009344	Stippling of the epiphysis of the distal phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0009355	Stippling of the epiphysis of the proximal phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0009377	Patchy sclerosis of 5th finger phalanx	7	CL E G H
HP:0003330	HP:0009388	Ivory epiphyses of the 5th finger	7	CL E G H
HP:0003330	HP:0009399	Ivory epiphyses of the 4th finger	7	CL E G H
HP:0003330	HP:0009406	Patchy sclerosis of 4th finger phalanx	7	CL E G H
HP:0003330	HP:0009416	Ivory epiphyses of the 3rd finger	7	CL E G H
HP:0003330	HP:0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0009444	Patchy sclerosis of 3rd finger phalanx	7	CL E G H
HP:0003330	HP:0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0009494	Ivory epiphyses of the 2nd finger	7	CL E G H
HP:0003330	HP:0009511	Stippling of the epiphysis of the distal phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0009522	Stippling of the epiphysis of the middle phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0009533	Stippling of the epiphysis of the proximal phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0009551	Patchy sclerosis of 2nd finger phalanx	7	CL E G H
HP:0003330	HP:0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	7	CL E G H
HP:0003330	HP:0009646	Patchy sclerosis of the distal phalanx of the thumb	7	CL E G H
HP:0003330	HP:0009655	Patchy sclerosis of thumb phalanx	7	CL E G H
HP:0003330	HP:0009673	Stippling of the epiphysis of the proximal phalanx of the thumb	7	CL E G H
HP:0003330	HP:0009692	Ivory epiphysis of the thumb	7	CL E G H
HP:0003330	HP:0009840	Patchy sclerosis of distal phalanx of finger	7	CL E G H
HP:0003330	HP:0009848	Patchy sclerosis of middle phalanx of finger	7	CL E G H
HP:0003330	HP:0009856	Patchy sclerosis of proximal phalanx of finger	7	CL E G H
HP:0003330	HP:0010024	Epiphyseal stippling of the first metacarpal	7	CL E G H
HP:0003330	HP:0010063	Patchy sclerosis of hallux phalanx	7	CL E G H
HP:0003330	HP:0010072	Patchy sclerosis of the 1st metatarsal	7	CL E G H
HP:0003330	HP:0010081	Patchy sclerosis of the distal phalanx of the hallux	7	CL E G H
HP:0003330	HP:0010090	Patchy sclerosis of the proximal phalanx of the hallux	7	CL E G H
HP:0003330	HP:0010136	Stippling of the epiphysis of the proximal phalanx of the hallux	7	CL E G H
HP:0003330	HP:0010147	Stippling of the epiphysis of the distal phalanx of the hallux	7	CL E G H
HP:0003330	HP:0010190	Patchy sclerosis of distal toe phalanx	7	CL E G H
HP:0003330	HP:0010199	Patchy sclerosis of middle toe phalanx	7	CL E G H
HP:0003330	HP:0010208	Patchy sclerosis of proximal toe phalanx	7	CL E G H
HP:0003330	HP:0010263	Ivory epiphyses of the middle phalanges of the hand	7	CL E G H
HP:0003330	HP:0010274	Ivory epiphyses of the proximal phalanges of the hand	7	CL E G H
HP:0003330	HP:0010352	Patchy sclerosis of 2nd toe phalanx	7	CL E G H
HP:0003330	HP:0010364	Patchy sclerosis of 3rd toe phalanx	7	CL E G H
HP:0003330	HP:0010376	Patchy sclerosis of 4th toe phalanx	7	CL E G H
HP:0003330	HP:0010388	Patchy sclerosis of 5th toe phalanx	7	CL E G H
HP:0003330	HP:0010400	Patchy sclerosis of the proximal phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0010409	Patchy sclerosis of the middle phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0010418	Patchy sclerosis of the distal phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100109	Stippling of the epiphysis of the distal phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100120	Stippling of the epiphysis of the middle phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100131	Stippling of the epiphysis of the proximal phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100144	Stippling of the epiphysis of the distal phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100155	Stippling of the epiphysis of the middle phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100166	Stippling of the epiphysis of the proximal phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100178	Stippling of the epiphysis of the distal phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100189	Stippling of the epiphysis of the middle phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100200	Stippling of the epiphysis of the proximal phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100211	Stippling of the epiphysis of the distal phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100222	Stippling of the epiphysis of the middle phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100233	Stippling of the epiphysis of the proximal phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100461	Patchy sclerosis of the middle phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100462	Patchy sclerosis of the middle phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100463	Patchy sclerosis of the middle phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100464	Patchy sclerosis of the proximal phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100466	Patchy sclerosis of the proximal phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100467	Patchy sclerosis of the distal phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100468	Patchy sclerosis of the distal phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100469	Patchy sclerosis of the distal phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100900	Sclerosis of the distal phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0100901	Sclerosis of the distal phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0100902	Sclerosis of the distal phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0100903	Sclerosis of the distal phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0100904	Sclerosis of the middle phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0100905	Sclerosis of the middle phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0100906	Sclerosis of the middle phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0100907	Sclerosis of the middle phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0100908	Sclerosis of the proximal phalanx of the 2nd finger	7	CL E G H
HP:0003330	HP:0100909	Sclerosis of the proximal phalanx of the 3rd finger	7	CL E G H
HP:0003330	HP:0100910	Sclerosis of the proximal phalanx of the 4th finger	7	CL E G H
HP:0003330	HP:0100911	Sclerosis of the proximal phalanx of the 5th finger	7	CL E G H
HP:0003330	HP:0100912	Sclerosis of the distal phalanx of the thumb	7	CL E G H
HP:0003330	HP:0100913	Sclerosis of the proximal phalanx of the thumb	7	CL E G H
HP:0003330	HP:0100914	Sclerosis of the 1st metacarpal	7	CL E G H
HP:0003330	HP:0100931	Sclerosis of the proximal phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100932	Sclerosis of the proximal phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100933	Sclerosis of the proximal phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100934	Sclerosis of the proximal phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100935	Sclerosis of the middle phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100936	Sclerosis of the middle phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100937	Sclerosis of the middle phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100938	Sclerosis of the middle phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100939	Sclerosis of the distal phalanx of the 2nd toe	7	CL E G H
HP:0003330	HP:0100940	Sclerosis of the distal phalanx of the 3rd toe	7	CL E G H
HP:0003330	HP:0100941	Sclerosis of the distal phalanx of the 4th toe	7	CL E G H
HP:0003330	HP:0100942	Sclerosis of the distal phalanx of the 5th toe	7	CL E G H
HP:0003330	HP:0100943	Sclerosis of the proximal phalanx of the hallux	7	CL E G H
HP:0003330	HP:0100944	Sclerosis of the distal phalanx of the hallux	7	CL E G H
HP:0003330	HP:0100945	Sclerosis of the 1st metatarsal	7	CL E G H
HP:0003330	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	7	BMPR1B CL E G H	658	1077	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent		90
HP:0003330	HP:0009684	Stippling of the epiphysis of the distal phalanx of the thumb	7	GDF5 CL E G H	8200	4220	ORPHA:93384	Brachydactyly type C	HP:0040282 - Frequent		52
HP:0003330	HP:0009772	Patchy sclerosis of finger phalanx	7	GJA1 CL E G H	2697	4274	OMIM:218400	Craniometaphyseal dysplasia, autosomal recessive	.		68
HP:0003330	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	7	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0003330	HP:0010252	Ivory epiphyses of the distal phalanges of the hand	7	TRPS1 CL E G H	7227	12340	OMIM:190350	Trichorhinophalangeal syndrome, type I	.		171
HP:0003330	HP:0004223	Ivory epiphysis of the distal phalanx of the 5th finger	8	CL E G H
HP:0003330	HP:0009157	Ivory epiphysis of the proximal phalanx of the 5th finger	8	CL E G H
HP:0003330	HP:0009175	Patchy sclerosis of the middle phalanx of the 5th finger	8	CL E G H
HP:0003330	HP:0009209	Ivory epiphysis of the middle phalanx of the 5th finger	8	CL E G H
HP:0003330	HP:0009220	Ivory epiphysis of the middle phalanx of the 4th finger	8	CL E G H
HP:0003330	HP:0009231	Patchy sclerosis of the proximal phalanx of the 5th finger	8	CL E G H
HP:0003330	HP:0009243	Patchy sclerosis of the distal phalanx of the 5th finger	8	CL E G H
HP:0003330	HP:0009256	Ivory epiphysis of the distal phalanx of the 4th finger	8	CL E G H
HP:0003330	HP:0009267	Ivory epiphysis of the proximal phalanx of the 4th finger	8	CL E G H
HP:0003330	HP:0009304	Patchy sclerosis of the distal phalanx of the 4th finger	8	CL E G H
HP:0003330	HP:0009307	Patchy sclerosis of the middle phalanx of the 4th finger	8	CL E G H
HP:0003330	HP:0009313	Patchy sclerosis of the proximal phalanx of the 4th finger	8	CL E G H
HP:0003330	HP:0009327	Ivory epiphysis of the middle phalanx of the 3rd finger	8	CL E G H
HP:0003330	HP:0009341	Ivory epiphysis of the distal phalanx of the 3rd finger	8	CL E G H
HP:0003330	HP:0009352	Ivory epiphysis of the proximal phalanx of the 3rd finger	8	CL E G H
HP:0003330	HP:0009377	Patchy sclerosis of 5th finger phalanx	8	CL E G H
HP:0003330	HP:0009406	Patchy sclerosis of 4th finger phalanx	8	CL E G H
HP:0003330	HP:0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	8	CL E G H
HP:0003330	HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	8	CL E G H
HP:0003330	HP:0009444	Patchy sclerosis of 3rd finger phalanx	8	CL E G H
HP:0003330	HP:0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	8	CL E G H
HP:0003330	HP:0009508	Ivory epiphysis of the distal phalanx of the 2nd finger	8	CL E G H
HP:0003330	HP:0009519	Ivory epiphysis of the middle phalanx of the 2nd finger	8	CL E G H
HP:0003330	HP:0009530	Ivory epiphysis of the proximal phalanx of the 2nd finger	8	CL E G H
HP:0003330	HP:0009551	Patchy sclerosis of 2nd finger phalanx	8	CL E G H
HP:0003330	HP:0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	8	CL E G H
HP:0003330	HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	8	CL E G H
HP:0003330	HP:0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	8	CL E G H
HP:0003330	HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	8	CL E G H
HP:0003330	HP:0009646	Patchy sclerosis of the distal phalanx of the thumb	8	CL E G H
HP:0003330	HP:0009655	Patchy sclerosis of thumb phalanx	8	CL E G H
HP:0003330	HP:0009670	Ivory epiphysis of the proximal phalanx of the thumb	8	CL E G H
HP:0003330	HP:0009681	Ivory epiphysis of the distal phalanx of the thumb	8	CL E G H
HP:0003330	HP:0009840	Patchy sclerosis of distal phalanx of finger	8	CL E G H
HP:0003330	HP:0009848	Patchy sclerosis of middle phalanx of finger	8	CL E G H
HP:0003330	HP:0009856	Patchy sclerosis of proximal phalanx of finger	8	CL E G H
HP:0003330	HP:0010021	Ivory epiphysis of the 1st metacarpal	8	CL E G H
HP:0003330	HP:0010031	Patchy sclerosis of the 1st metacarpal	8	CL E G H
HP:0003330	HP:0010072	Patchy sclerosis of the 1st metatarsal	8	CL E G H
HP:0003330	HP:0010081	Patchy sclerosis of the distal phalanx of the hallux	8	CL E G H
HP:0003330	HP:0010090	Patchy sclerosis of the proximal phalanx of the hallux	8	CL E G H
HP:0003330	HP:0010400	Patchy sclerosis of the proximal phalanx of the 2nd toe	8	CL E G H
HP:0003330	HP:0010409	Patchy sclerosis of the middle phalanx of the 2nd toe	8	CL E G H
HP:0003330	HP:0010418	Patchy sclerosis of the distal phalanx of the 2nd toe	8	CL E G H
HP:0003330	HP:0100461	Patchy sclerosis of the middle phalanx of the 3rd toe	8	CL E G H
HP:0003330	HP:0100462	Patchy sclerosis of the middle phalanx of the 4th toe	8	CL E G H
HP:0003330	HP:0100463	Patchy sclerosis of the middle phalanx of the 5th toe	8	CL E G H
HP:0003330	HP:0100464	Patchy sclerosis of the proximal phalanx of the 3rd toe	8	CL E G H
HP:0003330	HP:0100465	Patchy sclerosis of the proximal phalanx of the 4th toe	8	CL E G H
HP:0003330	HP:0100466	Patchy sclerosis of the proximal phalanx of the 5th toe	8	CL E G H
HP:0003330	HP:0100467	Patchy sclerosis of the distal phalanx of the 3rd toe	8	CL E G H
HP:0003330	HP:0100468	Patchy sclerosis of the distal phalanx of the 4th toe	8	CL E G H
HP:0003330	HP:0100469	Patchy sclerosis of the distal phalanx of the 5th toe	8	CL E G H
HP:0003330	HP:0009175	Patchy sclerosis of the middle phalanx of the 5th finger	9	CL E G H
HP:0003330	HP:0009231	Patchy sclerosis of the proximal phalanx of the 5th finger	9	CL E G H
HP:0003330	HP:0009243	Patchy sclerosis of the distal phalanx of the 5th finger	9	CL E G H
HP:0003330	HP:0009304	Patchy sclerosis of the distal phalanx of the 4th finger	9	CL E G H
HP:0003330	HP:0009307	Patchy sclerosis of the middle phalanx of the 4th finger	9	CL E G H
HP:0003330	HP:0009313	Patchy sclerosis of the proximal phalanx of the 4th finger	9	CL E G H
HP:0003330	HP:0009425	Patchy sclerosis of the distal phalanx of the 3rd finger	9	CL E G H
HP:0003330	HP:0009434	Patchy sclerosis of the middle phalanx of the 3rd finger	9	CL E G H
HP:0003330	HP:0009454	Patchy sclerosis of the proximal phalanx of the 3rd finger	9	CL E G H
HP:0003330	HP:0009562	Patchy sclerosis of the distal phalanx of the 2nd finger	9	CL E G H
HP:0003330	HP:0009573	Patchy sclerosis of the middle phalanx of the 2nd finger	9	CL E G H
HP:0003330	HP:0009585	Patchy sclerosis of the proximal phalanx of the 2nd finger	9	CL E G H
HP:0003330	HP:0009634	Patchy sclerosis of the proximal phalanx of the thumb	9	CL E G H
HP:0003330	HP:0009646	Patchy sclerosis of the distal phalanx of the thumb	9	CL E G H