Human Phenotype Ontology 
Grandparent Node:
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Abnormality of bone mineral density (HP:0004348)help
Parent Node:
expand
Reduced bone mineral density (HP:0004349)help
..Starting node
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Osteoporosis (HP:0000939)help
Term ID: 939
Name: Osteoporosis
Synonym:
Definition: Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).
Comments:
Reference: HP:0000939
Genes and Diseases:
 
       Child Nodes:
........expandGeneralized osteoporosis (HP:0040160) help
................... HP:0005653 Moderate generalized osteoporosis
................... HP:0005897 Severe generalized osteoporosis
........expandLocalized osteoporosis (HP:0040161) help
................... HP:0005625 Osteoporosis of vertebrae

 Sister Nodes: 
..expandGeneralized bone demineralization (HP:0006462) help
..expandOsteomalacia (HP:0002749) help
..expandOsteopenia (HP:0000938) help
..expandPatchy reduction of bone mineral density (HP:0010657) help
..expandPatchy variation in bone mineral density (HP:0010659) help
..expandRickets (HP:0002748) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H100601517ORPHA1126660601439
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0000939HP:0000939Osteoporosis0ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000939HP:0000939Osteoporosis0AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000939HP:0000939Osteoporosis0AIP CL E G H90492965ORPHA1741358605555
HP:0000939HP:0000939Osteoporosis0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0000939HP:0000939Osteoporosis0ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0000939HP:0000939Osteoporosis0ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0000939HP:0000939Osteoporosis0AR CL E G H36799429ORPHA1556644313700
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000939HP:0000939Osteoporosis0ASAH1 CL E G H427333ORPHA1712735613468
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538198ORPHA11283869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0000939HP:0000939Osteoporosis0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0000939HP:0000939Osteoporosis0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000939HP:0000939Osteoporosis0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0000939HP:0000939Osteoporosis0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000939HP:0000939Osteoporosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0000939HP:0000939Osteoporosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000939HP:0000939Osteoporosis0CBS CL E G H875394ORPHA19671550613381
HP:0000939HP:0000939Osteoporosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000939HP:0000939Osteoporosis0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM112212771603400
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H79577143ORPHA1114816783607393
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407291347ORPHA1360413733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H640722965ORPHA1360413733605516
HP:0000939HP:0000939Osteoporosis0CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000939HP:0000939Osteoporosis0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0000939HP:0000939Osteoporosis0COL7A1 CL E G H129479408ORPHA126162214120120
HP:0000939HP:0000939Osteoporosis0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0000939HP:0000939Osteoporosis0CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000939HP:0000939Osteoporosis0CYB5A CL E G H152890796ORPHA11622570613218
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H1583289548ORPHA11252590118485
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H1583168558ORPHA11252590118485
HP:0000939HP:0000939Osteoporosis0CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H158690793ORPHA13112593609300
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H158690796ORPHA13112593609300
HP:0000939HP:0000939Osteoporosis0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000939HP:0000939Osteoporosis0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0000939HP:0000939Osteoporosis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0000939HP:0000939Osteoporosis0DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0000939Osteoporosis0DMRT3 CL E G H58524251510ORPHA121013909614754
HP:0000939HP:0000939Osteoporosis0DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000939HP:0000939Osteoporosis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0000939HP:0000939Osteoporosis0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000939HP:0000939Osteoporosis0FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000939HP:0000939Osteoporosis0FGF8 CL E G H2253432ArbovirosisORPHA1773686600483
HP:0000939HP:0000939Osteoporosis0FGFR1 CL E G H2260432ArbovirosisORPHA16883688136350
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0000939HP:0000939Osteoporosis0FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11763969136435
HP:0000939HP:0000939Osteoporosis0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0000939HP:0000939Osteoporosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0000939HP:0000939Osteoporosis0GALT CL E G H259279239ORPHA16454135606999
HP:0000939HP:0000939Osteoporosis0GATA4 CL E G H2626251510ORPHA16304173600576
HP:0000939HP:0000939Osteoporosis0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0000939HP:0000939Osteoporosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778189427ORPHA14454392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM14454392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM14454392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM14454392139320
HP:0000939HP:0000939Osteoporosis0GNRH1 CL E G H2796432ArbovirosisORPHA11174419152760
HP:0000939HP:0000939Osteoporosis0GNRHR CL E G H2798432ArbovirosisORPHA11824421138850
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H923442078ORPHA119825676607983
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM119825676607983
HP:0000939HP:0000939Osteoporosis0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0000939HP:0000939Osteoporosis0HBB CL E G H3043231214ORPHA114504827141900
HP:0000939HP:0000939Osteoporosis0HBB CL E G H3043232Medullary sponge kidneyORPHA114504827141900
HP:0000939HP:0000939Osteoporosis0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11854886613609
HP:0000939HP:0000939Osteoporosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000939HP:0000939Osteoporosis0HS6ST1 CL E G H9394432ArbovirosisORPHA1855201604846
HP:0000939HP:0000939Osteoporosis0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM17865213601860
HP:0000939HP:0000939Osteoporosis0HSD3B2 CL E G H328490791ORPHA12315218613890
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H3339800ORPHA118305273142461
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0000939HP:0000939Osteoporosis0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM189218873606951
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H557641515ORPHA146213556606045
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0000939HP:0000939Osteoporosis0IFT43 CL E G H1127521515ORPHA119929669614068
HP:0000939HP:0000939Osteoporosis0IFT52 CL E G H510981515ORPHA111215901617094
HP:0000939HP:0000939Osteoporosis0IGF1 CL E G H347973272ORPHA11835464147440
HP:0000939HP:0000939Osteoporosis0KCNJ8 CL E G H37641517ORPHA11736269600935
HP:0000939HP:0000939Osteoporosis0KISS1 CL E G H3814432ArbovirosisORPHA1446341603286
HP:0000939HP:0000939Osteoporosis0KISS1R CL E G H84634432ArbovirosisORPHA11194510604161
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H39773206ORPHA17216597151443
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H400079474ORPHA116226636150330
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H40412788ORPHA113546697603506
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM113546697603506
HP:0000939HP:0000939Osteoporosis0MAP3K1 CL E G H4214251510ORPHA11846848600982
HP:0000939HP:0000939Osteoporosis0MEN1 CL E G H42212965ORPHA119067010613733
HP:0000939HP:0000939Osteoporosis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120612744605678
HP:0000939HP:0000939Osteoporosis0MMP1 CL E G H431279408ORPHA1727155120353
HP:0000939HP:0000939Osteoporosis0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000939HP:0000939Osteoporosis0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM115314377606470
HP:0000939HP:0000939Osteoporosis0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18914378606471
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H4853955ORPHA17507882600275
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0000939HP:0000939Osteoporosis0NR0B1 CL E G H190251510ORPHA13067960300473
HP:0000939HP:0000939Osteoporosis0NR5A1 CL E G H2516251510ORPHA12057983184757
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H26012432ArbovirosisORPHA114529843608137
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM114529843608137
HP:0000939HP:0000939Osteoporosis0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19088653232000
HP:0000939HP:0000939Osteoporosis0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17348654232050
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11508773604961
HP:0000939HP:0000939Osteoporosis0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11798794603390
HP:0000939HP:0000939Osteoporosis0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0000939HP:0000939Osteoporosis0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0000939HP:0000939Osteoporosis0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0000939HP:0000939Osteoporosis0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0000939HP:0000939Osteoporosis0PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12829091300131
HP:0000939HP:0000939Osteoporosis0POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM121813711300603
HP:0000939HP:0000939Osteoporosis0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0000939HP:0000939Osteoporosis0POR CL E G H544795699ORPHA14029208124015
HP:0000939HP:0000939Osteoporosis0PRDM5 CL E G H1110790354ORPHA13479349614161
HP:0000939HP:0000939Osteoporosis0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0000939HP:0000939Osteoporosis0PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1329380601639
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA19169388188830
HP:0000939HP:0000939Osteoporosis0PROK2 CL E G H60675432ArbovirosisORPHA15518455607002
HP:0000939HP:0000939Osteoporosis0PROKR2 CL E G H128674432ArbovirosisORPHA113215836607123
HP:0000939HP:0000939Osteoporosis0PYCR1 CL E G H58312078ORPHA12089721179035
HP:0000939HP:0000939Osteoporosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM131717063602536
HP:0000939HP:0000939Osteoporosis0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM136669949603780
HP:0000939HP:0000939Osteoporosis0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0000939HP:0000939Osteoporosis0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM112510301604175
HP:0000939HP:0000939Osteoporosis0RUNX2 CL E G H8601452ORPHA137310472600211
HP:0000939HP:0000939Osteoporosis0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM142829242613293
HP:0000939HP:0000939Osteoporosis0SLC25A19 CL E G H6038699742ORPHA113614409606521
HP:0000939HP:0000939Osteoporosis0SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM133411019182309
HP:0000939HP:0000939Osteoporosis0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM18194061602671
HP:0000939HP:0000939Osteoporosis0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0000939HP:0000939Osteoporosis0SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM16211075604990
HP:0000939HP:0000939Osteoporosis0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0000939HP:0000939Osteoporosis0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM126411123300105
HP:0000939HP:0000939Osteoporosis0SOX9 CL E G H6662251510ORPHA128011204608160
HP:0000939HP:0000939Osteoporosis0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM110611219182120
HP:0000939HP:0000939Osteoporosis0SPRY4 CL E G H81848432ArbovirosisORPHA14515533607984
HP:0000939HP:0000939Osteoporosis0SRY CL E G H6736251510ORPHA111311311480000
HP:0000939HP:0000939Osteoporosis0TAC3 CL E G H6866432ArbovirosisORPHA12211521162330
HP:0000939HP:0000939Osteoporosis0TACR3 CL E G H6870432ArbovirosisORPHA111111528162332
HP:0000939HP:0000939Osteoporosis0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM129311727602322
HP:0000939HP:0000939Osteoporosis0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1244911730187270
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM133011824604319
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM133011824604319
HP:0000939HP:0000939Osteoporosis0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM112230760614726
HP:0000939HP:0000939Osteoporosis0TNFRSF11A CL E G H87922801ORPHA142011908603499
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H49822801ORPHA116811909602643
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM116811909602643
HP:0000939HP:0000939Osteoporosis0TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM160812305604505
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H910196253ORPHA113412631603158
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0000939HP:0000939Osteoporosis0VAMP7 CL E G H6845251510ORPHA112411486300053
HP:0000939HP:0000939Osteoporosis0VDR CL E G H7421166710Postmenopausal osteoporosis166710C0029458OMIM126912679601769
HP:0000939HP:0000939Osteoporosis0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0000939HP:0000939Osteoporosis0WDR11 CL E G H55717432ArbovirosisORPHA129313831606417
HP:0000939HP:0000939Osteoporosis0WDR19 CL E G H577281515ORPHA174918340608151
HP:0000939HP:0000939Osteoporosis0WDR35 CL E G H575391515ORPHA152329250613602
HP:0000939HP:0000939Osteoporosis0WNT1 CL E G H747185193ORPHA111512774164820
HP:0000939HP:0000939Osteoporosis0WNT3A CL E G H8978085193ORPHA18015983606359
HP:0000939HP:0000939Osteoporosis0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1266512791604611
HP:0000939HP:0000939Osteoporosis0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1266512791604611
HP:0000939HP:0000939Osteoporosis0WT1 CL E G H7490251510ORPHA1114612796607102
HP:0000939HP:0000939Osteoporosis0WWOX CL E G H51741251510ORPHA196712799605131
HP:0000939HP:0000939Osteoporosis0XYLT2 CL E G H6413285194ORPHA119015517608125
HP:0000939HP:0000939Osteoporosis0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0000939HP:0000939Osteoporosis0ZFPM2 CL E G H23414251510ORPHA124116700603693
HP:0000939HP:0000939Osteoporosis0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000939HP:0000939Osteoporosis0ZNF469 CL E G H8462790354ORPHA1241523216612078
HP:0000939HP:0040161Localized osteoporosis1ABCC9 CL E G H100601517ORPHA1126660601439
HP:0000939HP:0040160Generalized osteoporosis1ABCC9 CL E G H100601517ORPHA1126660601439
HP:0000939HP:0040160Generalized osteoporosis1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0000939HP:0040161Localized osteoporosis1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0000939HP:0040161Localized osteoporosis1ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000939HP:0040160Generalized osteoporosis1ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000939HP:0040161Localized osteoporosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000939HP:0040160Generalized osteoporosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000939HP:0040160Generalized osteoporosis1AIP CL E G H90492965ORPHA1741358605555
HP:0000939HP:0040161Localized osteoporosis1AIP CL E G H90492965ORPHA1741358605555
HP:0000939HP:0040160Generalized osteoporosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0000939HP:0040161Localized osteoporosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0000939HP:0040160Generalized osteoporosis1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0000939HP:0040161Localized osteoporosis1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0000939HP:0040160Generalized osteoporosis1ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000939HP:0040161Localized osteoporosis1ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000939HP:0040160Generalized osteoporosis1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0000939HP:0040161Localized osteoporosis1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0000939HP:0040160Generalized osteoporosis1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0000939HP:0040161Localized osteoporosis1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0000939HP:0040160Generalized osteoporosis1AR CL E G H36799429ORPHA1556644313700
HP:0000939HP:0040161Localized osteoporosis1AR CL E G H36799429ORPHA1556644313700
HP:0000939HP:0040160Generalized osteoporosis1ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000939HP:0040161Localized osteoporosis1ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000939HP:0040161Localized osteoporosis1ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000939HP:0040160Generalized osteoporosis1ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000939HP:0040160Generalized osteoporosis1ASAH1 CL E G H427333ORPHA1712735613468
HP:0000939HP:0040161Localized osteoporosis1ASAH1 CL E G H427333ORPHA1712735613468
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538198ORPHA11283869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538198ORPHA11283869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0000939HP:0040161Localized osteoporosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0000939HP:0040160Generalized osteoporosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000939HP:0040161Localized osteoporosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000939HP:0040160Generalized osteoporosis1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0000939HP:0040161Localized osteoporosis1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0000939HP:0040161Localized osteoporosis1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000939HP:0040160Generalized osteoporosis1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000939HP:0040160Generalized osteoporosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0000939HP:0040161Localized osteoporosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0000939HP:0040160Generalized osteoporosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000939HP:0040161Localized osteoporosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000939HP:0040161Localized osteoporosis1CBS CL E G H875394ORPHA19671550613381
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H875394ORPHA19671550613381
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000939HP:0040161Localized osteoporosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000939HP:0040160Generalized osteoporosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM112212771603400
HP:0000939HP:0040161Localized osteoporosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM112212771603400
HP:0000939HP:0040161Localized osteoporosis1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0000939HP:0040161Localized osteoporosis1CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H79577143ORPHA1114816783607393
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H6407291347ORPHA1360413733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H640722965ORPHA1360413733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H6407291347ORPHA1360413733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H640722965ORPHA1360413733605516
HP:0000939HP:0040161Localized osteoporosis1CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000939HP:0040160Generalized osteoporosis1CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000939HP:0040160Generalized osteoporosis1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0000939HP:0040161Localized osteoporosis1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0000939HP:0040160Generalized osteoporosis1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0000939HP:0040161Localized osteoporosis1COL7A1 CL E G H129479408ORPHA126162214120120
HP:0000939HP:0040161Localized osteoporosis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0000939HP:0040160Generalized osteoporosis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0000939HP:0040160Generalized osteoporosis1CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000939HP:0040161Localized osteoporosis1CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000939HP:0040160Generalized osteoporosis1CYB5A CL E G H152890796ORPHA11622570613218
HP:0000939HP:0040161Localized osteoporosis1CYB5A CL E G H152890796ORPHA11622570613218
HP:0000939HP:0040160Generalized osteoporosis1CYP11A1 CL E G H1583289548ORPHA11252590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11A1 CL E G H1583289548ORPHA11252590118485
HP:0000939HP:0040160Generalized osteoporosis1CYP11A1 CL E G H1583168558ORPHA11252590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11A1 CL E G H1583168558ORPHA11252590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0000939HP:0040160Generalized osteoporosis1CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0000939HP:0040161Localized osteoporosis1CYP17A1 CL E G H158690796ORPHA13112593609300
HP:0000939HP:0040160Generalized osteoporosis1CYP17A1 CL E G H158690793ORPHA13112593609300
HP:0000939HP:0040161Localized osteoporosis1CYP17A1 CL E G H158690793ORPHA13112593609300
HP:0000939HP:0040160Generalized osteoporosis1CYP17A1 CL E G H158690796ORPHA13112593609300
HP:0000939HP:0040160Generalized osteoporosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000939HP:0040161Localized osteoporosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000939HP:0040160Generalized osteoporosis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0000939HP:0040161Localized osteoporosis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0000939HP:0040160Generalized osteoporosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0000939HP:0040161Localized osteoporosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0000939HP:0040161Localized osteoporosis1DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0040160Generalized osteoporosis1DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0040160Generalized osteoporosis1DMRT3 CL E G H58524251510ORPHA121013909614754
HP:0000939HP:0040161Localized osteoporosis1DMRT3 CL E G H58524251510ORPHA121013909614754
HP:0000939HP:0040160Generalized osteoporosis1DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000939HP:0040161Localized osteoporosis1DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000939HP:0040161Localized osteoporosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0000939HP:0040160Generalized osteoporosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0000939HP:0040160Generalized osteoporosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000939HP:0040161Localized osteoporosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000939HP:0040160Generalized osteoporosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0000939HP:0040161Localized osteoporosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0000939HP:0040160Generalized osteoporosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000939HP:0040161Localized osteoporosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000939HP:0040160Generalized osteoporosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0000939HP:0040161Localized osteoporosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0000939HP:0040161Localized osteoporosis1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000939HP:0040160Generalized osteoporosis1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000939HP:0040161Localized osteoporosis1FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000939HP:0040160Generalized osteoporosis1FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000939HP:0040160Generalized osteoporosis1FGF8 CL E G H2253432ArbovirosisORPHA1773686600483
HP:0000939HP:0040161Localized osteoporosis1FGF8 CL E G H2253432ArbovirosisORPHA1773686600483
HP:0000939HP:0040161Localized osteoporosis1FGFR1 CL E G H2260432ArbovirosisORPHA16883688136350
HP:0000939HP:0040160Generalized osteoporosis1FGFR1 CL E G H2260432ArbovirosisORPHA16883688136350
HP:0000939HP:0040160Generalized osteoporosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0000939HP:0040161Localized osteoporosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM129218169607063
HP:0000939HP:0040161Localized osteoporosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0000939HP:0040160Generalized osteoporosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA129218169607063
HP:0000939HP:0040160Generalized osteoporosis1FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11763969136435
HP:0000939HP:0040161Localized osteoporosis1FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11763969136435
HP:0000939HP:0040160Generalized osteoporosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0000939HP:0040161Localized osteoporosis1G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0000939HP:0040160Generalized osteoporosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0000939HP:0040161Localized osteoporosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM19444122612222
HP:0000939HP:0040160Generalized osteoporosis1GALT CL E G H259279239ORPHA16454135606999
HP:0000939HP:0040161Localized osteoporosis1GALT CL E G H259279239ORPHA16454135606999
HP:0000939HP:0040160Generalized osteoporosis1GATA4 CL E G H2626251510ORPHA16304173600576
HP:0000939HP:0040161Localized osteoporosis1GATA4 CL E G H2626251510ORPHA16304173600576
HP:0000939HP:0040160Generalized osteoporosis1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0000939HP:0040161Localized osteoporosis1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0000939HP:0040160Generalized osteoporosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0000939HP:0040161Localized osteoporosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM16964298611458
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778189427ORPHA14454392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778189427ORPHA14454392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM14454392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM14454392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM14454392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM14454392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM14454392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM14454392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM14454392139320
HP:0000939HP:0040160Generalized osteoporosis1GNRH1 CL E G H2796432ArbovirosisORPHA11174419152760
HP:0000939HP:0040161Localized osteoporosis1GNRH1 CL E G H2796432ArbovirosisORPHA11174419152760
HP:0000939HP:0040161Localized osteoporosis1GNRHR CL E G H2798432ArbovirosisORPHA11824421138850
HP:0000939HP:0040160Generalized osteoporosis1GNRHR CL E G H2798432ArbovirosisORPHA11824421138850
HP:0000939HP:0040160Generalized osteoporosis1GORAB CL E G H923442078ORPHA119825676607983
HP:0000939HP:0040161Localized osteoporosis1GORAB CL E G H923442078ORPHA119825676607983
HP:0000939HP:0040160Generalized osteoporosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM119825676607983
HP:0000939HP:0040161Localized osteoporosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM119825676607983
HP:0000939HP:0040160Generalized osteoporosis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0000939HP:0040161Localized osteoporosis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM13534446603048
HP:0000939HP:0040160Generalized osteoporosis1HBB CL E G H3043231214ORPHA114504827141900
HP:0000939HP:0040161Localized osteoporosis1HBB CL E G H3043231214ORPHA114504827141900
HP:0000939HP:0040160Generalized osteoporosis1HBB CL E G H3043232Medullary sponge kidneyORPHA114504827141900
HP:0000939HP:0040161Localized osteoporosis1HBB CL E G H3043232Medullary sponge kidneyORPHA114504827141900
HP:0000939HP:0040160Generalized osteoporosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11854886613609
HP:0000939HP:0040161Localized osteoporosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11854886613609
HP:0000939HP:0040160Generalized osteoporosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000939HP:0040161Localized osteoporosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11965154601688
HP:0000939HP:0040160Generalized osteoporosis1HS6ST1 CL E G H9394432ArbovirosisORPHA1855201604846
HP:0000939HP:0040161Localized osteoporosis1HS6ST1 CL E G H9394432ArbovirosisORPHA1855201604846
HP:0000939HP:0040160Generalized osteoporosis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM17865213601860
HP:0000939HP:0040161Localized osteoporosis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM17865213601860
HP:0000939HP:0040161Localized osteoporosis1HSD3B2 CL E G H328490791ORPHA12315218613890
HP:0000939HP:0040160Generalized osteoporosis1HSD3B2 CL E G H328490791ORPHA12315218613890
HP:0000939HP:0040160Generalized osteoporosis1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0000939HP:0040161Localized osteoporosis1HSPG2 CL E G H3339800ORPHA118305273142461
HP:0000939HP:0040160Generalized osteoporosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0000939HP:0040161Localized osteoporosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM118305273142461
HP:0000939HP:0040160Generalized osteoporosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM189218873606951
HP:0000939HP:0040161Localized osteoporosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM189218873606951
HP:0000939HP:0040160Generalized osteoporosis1IFT122 CL E G H557641515ORPHA146213556606045
HP:0000939HP:0040161Localized osteoporosis1IFT122 CL E G H557641515ORPHA146213556606045
HP:0000939HP:0040160Generalized osteoporosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0000939HP:0040161Localized osteoporosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM146213556606045
HP:0000939HP:0040161Localized osteoporosis1IFT43 CL E G H1127521515ORPHA119929669614068
HP:0000939HP:0040160Generalized osteoporosis1IFT43 CL E G H1127521515ORPHA119929669614068
HP:0000939HP:0040160Generalized osteoporosis1IFT52 CL E G H510981515ORPHA111215901617094
HP:0000939HP:0040161Localized osteoporosis1IFT52 CL E G H510981515ORPHA111215901617094
HP:0000939HP:0040161Localized osteoporosis1IGF1 CL E G H347973272ORPHA11835464147440
HP:0000939HP:0040160Generalized osteoporosis1IGF1 CL E G H347973272ORPHA11835464147440
HP:0000939HP:0040160Generalized osteoporosis1KCNJ8 CL E G H37641517ORPHA11736269600935
HP:0000939HP:0040161Localized osteoporosis1KCNJ8 CL E G H37641517ORPHA11736269600935
HP:0000939HP:0040161Localized osteoporosis1KISS1 CL E G H3814432ArbovirosisORPHA1446341603286
HP:0000939HP:0040160Generalized osteoporosis1KISS1 CL E G H3814432ArbovirosisORPHA1446341603286
HP:0000939HP:0040160Generalized osteoporosis1KISS1R CL E G H84634432ArbovirosisORPHA11194510604161
HP:0000939HP:0040161Localized osteoporosis1KISS1R CL E G H84634432ArbovirosisORPHA11194510604161
HP:0000939HP:0040161Localized osteoporosis1LIFR CL E G H39773206ORPHA17216597151443
HP:0000939HP:0040160Generalized osteoporosis1LIFR CL E G H39773206ORPHA17216597151443
HP:0000939HP:0040160Generalized osteoporosis1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0000939HP:0040161Localized osteoporosis1LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM17216597151443
HP:0000939HP:0040160Generalized osteoporosis1LMNA CL E G H400079474ORPHA116226636150330
HP:0000939HP:0040161Localized osteoporosis1LMNA CL E G H400079474ORPHA116226636150330
HP:0000939HP:0040161Localized osteoporosis1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000939HP:0040160Generalized osteoporosis1LMNA CL E G H4000740Aortic arch interruptionORPHA116226636150330
HP:0000939HP:0040161Localized osteoporosis1LRP5 CL E G H40412788ORPHA113546697603506
HP:0000939HP:0040160Generalized osteoporosis1LRP5 CL E G H40412788ORPHA113546697603506
HP:0000939HP:0040160Generalized osteoporosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM113546697603506
HP:0000939HP:0040161Localized osteoporosis1LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM113546697603506
HP:0000939HP:0040160Generalized osteoporosis1MAP3K1 CL E G H4214251510ORPHA11846848600982
HP:0000939HP:0040161Localized osteoporosis1MAP3K1 CL E G H4214251510ORPHA11846848600982
HP:0000939HP:0040160Generalized osteoporosis1MEN1 CL E G H42212965ORPHA119067010613733
HP:0000939HP:0040161Localized osteoporosis1MEN1 CL E G H42212965ORPHA119067010613733
HP:0000939HP:0040160Generalized osteoporosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120612744605678
HP:0000939HP:0040161Localized osteoporosis1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120612744605678
HP:0000939HP:0040161Localized osteoporosis1MMP1 CL E G H431279408ORPHA1727155120353
HP:0000939HP:0040160Generalized osteoporosis1MMP1 CL E G H431279408ORPHA1727155120353
HP:0000939HP:0040160Generalized osteoporosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000939HP:0040161Localized osteoporosis1MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12717166120360
HP:0000939HP:0040160Generalized osteoporosis1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM115314377606470
HP:0000939HP:0040161Localized osteoporosis1NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM115314377606470
HP:0000939HP:0040160Generalized osteoporosis1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18914378606471
HP:0000939HP:0040161Localized osteoporosis1NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18914378606471
HP:0000939HP:0040160Generalized osteoporosis1NOTCH2 CL E G H4853955ORPHA17507882600275
HP:0000939HP:0040161Localized osteoporosis1NOTCH2 CL E G H4853955ORPHA17507882600275
HP:0000939HP:0040160Generalized osteoporosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0000939HP:0040161Localized osteoporosis1NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM17507882600275
HP:0000939HP:0040160Generalized osteoporosis1NR0B1 CL E G H190251510ORPHA13067960300473
HP:0000939HP:0040161Localized osteoporosis1NR0B1 CL E G H190251510ORPHA13067960300473
HP:0000939HP:0040160Generalized osteoporosis1NR5A1 CL E G H2516251510ORPHA12057983184757
HP:0000939HP:0040161Localized osteoporosis1NR5A1 CL E G H2516251510ORPHA12057983184757
HP:0000939HP:0040161Localized osteoporosis1NSMF CL E G H26012432ArbovirosisORPHA114529843608137
HP:0000939HP:0040160Generalized osteoporosis1NSMF CL E G H26012432ArbovirosisORPHA114529843608137
HP:0000939HP:0040161Localized osteoporosis1NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM114529843608137
HP:0000939HP:0040160Generalized osteoporosis1NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM114529843608137
HP:0000939HP:0040160Generalized osteoporosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19088653232000
HP:0000939HP:0040161Localized osteoporosis1PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM19088653232000
HP:0000939HP:0040160Generalized osteoporosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17348654232050
HP:0000939HP:0040161Localized osteoporosis1PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17348654232050
HP:0000939HP:0040160Generalized osteoporosis1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0000939HP:0040161Localized osteoporosis1PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11508773604961
HP:0000939HP:0040160Generalized osteoporosis1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11508773604961
HP:0000939HP:0040161Localized osteoporosis1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11508773604961
HP:0000939HP:0040160Generalized osteoporosis1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11798794603390
HP:0000939HP:0040161Localized osteoporosis1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11798794603390
HP:0000939HP:0040160Generalized osteoporosis1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0000939HP:0040161Localized osteoporosis1PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13608854601758
HP:0000939HP:0040161Localized osteoporosis1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0000939HP:0040160Generalized osteoporosis1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM116114938610272
HP:0000939HP:0040160Generalized osteoporosis1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0000939HP:0040161Localized osteoporosis1PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM17949081153454
HP:0000939HP:0040160Generalized osteoporosis1PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0000939HP:0040161Localized osteoporosis1PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA13059082601865
HP:0000939HP:0040160Generalized osteoporosis1PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12829091300131
HP:0000939HP:0040161Localized osteoporosis1PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12829091300131
HP:0000939HP:0040160Generalized osteoporosis1POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM121813711300603
HP:0000939HP:0040161Localized osteoporosis1POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM121813711300603
HP:0000939HP:0040160Generalized osteoporosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0000939HP:0040161Localized osteoporosis1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM138589175174761
HP:0000939HP:0040160Generalized osteoporosis1POR CL E G H544795699ORPHA14029208124015
HP:0000939HP:0040161Localized osteoporosis1POR CL E G H544795699ORPHA14029208124015
HP:0000939HP:0040161Localized osteoporosis1PRDM5 CL E G H1110790354ORPHA13479349614161
HP:0000939HP:0040160Generalized osteoporosis1PRDM5 CL E G H1110790354ORPHA13479349614161
HP:0000939HP:0040161Localized osteoporosis1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0000939HP:0040160Generalized osteoporosis1PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0000939HP:0040160Generalized osteoporosis1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1329380601639
HP:0000939HP:0040161Localized osteoporosis1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1329380601639
HP:0000939HP:0040160Generalized osteoporosis1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0000939HP:0040161Localized osteoporosis1PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM19169388188830
HP:0000939HP:0040160Generalized osteoporosis1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA19169388188830
HP:0000939HP:0040161Localized osteoporosis1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA19169388188830
HP:0000939HP:0040160Generalized osteoporosis1PROK2 CL E G H60675432ArbovirosisORPHA15518455607002
HP:0000939HP:0040161Localized osteoporosis1PROK2 CL E G H60675432ArbovirosisORPHA15518455607002
HP:0000939HP:0040161Localized osteoporosis1PROKR2 CL E G H128674432ArbovirosisORPHA113215836607123
HP:0000939HP:0040160Generalized osteoporosis1PROKR2 CL E G H128674432ArbovirosisORPHA113215836607123
HP:0000939HP:0040161Localized osteoporosis1PYCR1 CL E G H58312078ORPHA12089721179035
HP:0000939HP:0040160Generalized osteoporosis1PYCR1 CL E G H58312078ORPHA12089721179035
HP:0000939HP:0040160Generalized osteoporosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM131717063602536
HP:0000939HP:0040161Localized osteoporosis1RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM131717063602536
HP:0000939HP:0040160Generalized osteoporosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM136669949603780
HP:0000939HP:0040161Localized osteoporosis1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM136669949603780
HP:0000939HP:0040160Generalized osteoporosis1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0000939HP:0040161Localized osteoporosis1RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA121434016601428
HP:0000939HP:0040160Generalized osteoporosis1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM112510301604175
HP:0000939HP:0040161Localized osteoporosis1RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM112510301604175
HP:0000939HP:0040161Localized osteoporosis1RUNX2 CL E G H8601452ORPHA137310472600211
HP:0000939HP:0040160Generalized osteoporosis1RUNX2 CL E G H8601452ORPHA137310472600211
HP:0000939HP:0040160Generalized osteoporosis1SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM142829242613293
HP:0000939HP:0040161Localized osteoporosis1SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM142829242613293
HP:0000939HP:0040160Generalized osteoporosis1SLC25A19 CL E G H6038699742ORPHA113614409606521
HP:0000939HP:0040161Localized osteoporosis1SLC25A19 CL E G H6038699742ORPHA113614409606521
HP:0000939HP:0040160Generalized osteoporosis1SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM133411019182309
HP:0000939HP:0040161Localized osteoporosis1SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM133411019182309
HP:0000939HP:0040160Generalized osteoporosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM18194061602671
HP:0000939HP:0040161Localized osteoporosis1SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM18194061602671
HP:0000939HP:0040160Generalized osteoporosis1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0000939HP:0040161Localized osteoporosis1SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM152811065603593
HP:0000939HP:0040161Localized osteoporosis1SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM16211075604990
HP:0000939HP:0040160Generalized osteoporosis1SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM16211075604990
HP:0000939HP:0040160Generalized osteoporosis1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0000939HP:0040161Localized osteoporosis1SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM174711120607608
HP:0000939HP:0040160Generalized osteoporosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM126411123300105
HP:0000939HP:0040161Localized osteoporosis1SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM126411123300105
HP:0000939HP:0040160Generalized osteoporosis1SOX9 CL E G H6662251510ORPHA128011204608160
HP:0000939HP:0040161Localized osteoporosis1SOX9 CL E G H6662251510ORPHA128011204608160
HP:0000939HP:0040161Localized osteoporosis1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM110611219182120
HP:0000939HP:0040160Generalized osteoporosis1SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM110611219182120
HP:0000939HP:0040160Generalized osteoporosis1SPRY4 CL E G H81848432ArbovirosisORPHA14515533607984
HP:0000939HP:0040161Localized osteoporosis1SPRY4 CL E G H81848432ArbovirosisORPHA14515533607984
HP:0000939HP:0040160Generalized osteoporosis1SRY CL E G H6736251510ORPHA111311311480000
HP:0000939HP:0040161Localized osteoporosis1SRY CL E G H6736251510ORPHA111311311480000
HP:0000939HP:0040161Localized osteoporosis1TAC3 CL E G H6866432ArbovirosisORPHA12211521162330
HP:0000939HP:0040160Generalized osteoporosis1TAC3 CL E G H6866432ArbovirosisORPHA12211521162330
HP:0000939HP:0040160Generalized osteoporosis1TACR3 CL E G H6870432ArbovirosisORPHA111111528162332
HP:0000939HP:0040161Localized osteoporosis1TACR3 CL E G H6870432ArbovirosisORPHA111111528162332
HP:0000939HP:0040160Generalized osteoporosis1TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM129311727602322
HP:0000939HP:0040161Localized osteoporosis1TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM129311727602322
HP:0000939HP:0040160Generalized osteoporosis1TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1244911730187270
HP:0000939HP:0040161Localized osteoporosis1TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1244911730187270
HP:0000939HP:0040160Generalized osteoporosis1TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM133011824604319
HP:0000939HP:0040161Localized osteoporosis1TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM133011824604319
HP:0000939HP:0040160Generalized osteoporosis1TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM133011824604319
HP:0000939HP:0040161Localized osteoporosis1TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM133011824604319
HP:0000939HP:0040160Generalized osteoporosis1TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM112230760614726
HP:0000939HP:0040161Localized osteoporosis1TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM112230760614726
HP:0000939HP:0040160Generalized osteoporosis1TNFRSF11A CL E G H87922801ORPHA142011908603499
HP:0000939HP:0040161Localized osteoporosis1TNFRSF11A CL E G H87922801ORPHA142011908603499
HP:0000939HP:0040161Localized osteoporosis1TNFRSF11B CL E G H49822801ORPHA116811909602643
HP:0000939HP:0040160Generalized osteoporosis1TNFRSF11B CL E G H49822801ORPHA116811909602643
HP:0000939HP:0040160Generalized osteoporosis1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM116811909602643
HP:0000939HP:0040161Localized osteoporosis1TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM116811909602643
HP:0000939HP:0040160Generalized osteoporosis1TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM160812305604505
HP:0000939HP:0040161Localized osteoporosis1TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM160812305604505
HP:0000939HP:0040160Generalized osteoporosis1USP8 CL E G H910196253ORPHA113412631603158
HP:0000939HP:0040161Localized osteoporosis1USP8 CL E G H910196253ORPHA113412631603158
HP:0000939HP:0040160Generalized osteoporosis1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0000939HP:0040161Localized osteoporosis1USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM113412631603158
HP:0000939HP:0040160Generalized osteoporosis1VAMP7 CL E G H6845251510ORPHA112411486300053
HP:0000939HP:0040161Localized osteoporosis1VAMP7 CL E G H6845251510ORPHA112411486300053
HP:0000939HP:0040160Generalized osteoporosis1VDR CL E G H7421166710Postmenopausal osteoporosis166710C0029458OMIM126912679601769
HP:0000939HP:0040161Localized osteoporosis1VDR CL E G H7421166710Postmenopausal osteoporosis166710C0029458OMIM126912679601769
HP:0000939HP:0040160Generalized osteoporosis1VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0000939HP:0040161Localized osteoporosis1VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM131525608615850
HP:0000939HP:0040161Localized osteoporosis1WDR11 CL E G H55717432ArbovirosisORPHA129313831606417
HP:0000939HP:0040160Generalized osteoporosis1WDR11 CL E G H55717432ArbovirosisORPHA129313831606417
HP:0000939HP:0040161Localized osteoporosis1WDR19 CL E G H577281515ORPHA174918340608151
HP:0000939HP:0040160Generalized osteoporosis1WDR19 CL E G H577281515ORPHA174918340608151
HP:0000939HP:0040160Generalized osteoporosis1WDR35 CL E G H575391515ORPHA152329250613602
HP:0000939HP:0040161Localized osteoporosis1WDR35 CL E G H575391515ORPHA152329250613602
HP:0000939HP:0040160Generalized osteoporosis1WNT1 CL E G H747185193ORPHA111512774164820
HP:0000939HP:0040161Localized osteoporosis1WNT1 CL E G H747185193ORPHA111512774164820
HP:0000939HP:0040161Localized osteoporosis1WNT3A CL E G H8978085193ORPHA18015983606359
HP:0000939HP:0040160Generalized osteoporosis1WNT3A CL E G H8978085193ORPHA18015983606359
HP:0000939HP:0040161Localized osteoporosis1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1266512791604611
HP:0000939HP:0040160Generalized osteoporosis1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1266512791604611
HP:0000939HP:0040160Generalized osteoporosis1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1266512791604611
HP:0000939HP:0040161Localized osteoporosis1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1266512791604611
HP:0000939HP:0040160Generalized osteoporosis1WT1 CL E G H7490251510ORPHA1114612796607102
HP:0000939HP:0040161Localized osteoporosis1WT1 CL E G H7490251510ORPHA1114612796607102
HP:0000939HP:0040160Generalized osteoporosis1WWOX CL E G H51741251510ORPHA196712799605131
HP:0000939HP:0040161Localized osteoporosis1WWOX CL E G H51741251510ORPHA196712799605131
HP:0000939HP:0040160Generalized osteoporosis1XYLT2 CL E G H6413285194ORPHA119015517608125
HP:0000939HP:0040161Localized osteoporosis1XYLT2 CL E G H6413285194ORPHA119015517608125
HP:0000939HP:0040160Generalized osteoporosis1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0000939HP:0040161Localized osteoporosis1ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM116813503606025
HP:0000939HP:0040160Generalized osteoporosis1ZFPM2 CL E G H23414251510ORPHA124116700603693
HP:0000939HP:0040161Localized osteoporosis1ZFPM2 CL E G H23414251510ORPHA124116700603693
HP:0000939HP:0040160Generalized osteoporosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000939HP:0040161Localized osteoporosis1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA117612877606480
HP:0000939HP:0040160Generalized osteoporosis1ZNF469 CL E G H8462790354ORPHA1241523216612078
HP:0000939HP:0040161Localized osteoporosis1ZNF469 CL E G H8462790354ORPHA1241523216612078
HP:0000939HP:0005625Osteoporosis of vertebrae2ABCC9 CL E G H100601517ORPHA1126660601439
HP:0000939HP:0005897Severe generalized osteoporosis2ABCC9 CL E G H100601517ORPHA1126660601439
HP:0000939HP:0005653Moderate generalized osteoporosis2ABCC9 CL E G H100601517ORPHA1126660601439
HP:0000939HP:0005625Osteoporosis of vertebrae2ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0000939HP:0005897Severe generalized osteoporosis2ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0000939HP:0005653Moderate generalized osteoporosis2ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1126660601439
HP:0000939HP:0005625Osteoporosis of vertebrae2ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000939HP:0005897Severe generalized osteoporosis2ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000939HP:0005653Moderate generalized osteoporosis2ADAMTS2 CL E G H95091901ORPHA11221218604539
HP:0000939HP:0005625Osteoporosis of vertebrae2AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000939HP:0005897Severe generalized osteoporosis2AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000939HP:0005653Moderate generalized osteoporosis2AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1230303602981
HP:0000939HP:0005653Moderate generalized osteoporosis2AIP CL E G H90492965ORPHA1741358605555
HP:0000939HP:0005625Osteoporosis of vertebrae2AIP CL E G H90492965ORPHA1741358605555
HP:0000939HP:0005897Severe generalized osteoporosis2AIP CL E G H90492965ORPHA1741358605555
HP:0000939HP:0005625Osteoporosis of vertebrae2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0000939HP:0005897Severe generalized osteoporosis2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0000939HP:0005653Moderate generalized osteoporosis2AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1741358605555
HP:0000939HP:0005653Moderate generalized osteoporosis2ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0000939HP:0005625Osteoporosis of vertebrae2ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0000939HP:0005897Severe generalized osteoporosis2ALB CL E G H213616000Analbuminemia616000C0878666OMIM1164399103600
HP:0000939HP:0005653Moderate generalized osteoporosis2ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000939HP:0005625Osteoporosis of vertebrae2ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000939HP:0005897Severe generalized osteoporosis2ANOS1 CL E G H3730432ArbovirosisORPHA14266211300836
HP:0000939HP:0005653Moderate generalized osteoporosis2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0000939HP:0005625Osteoporosis of vertebrae2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0000939HP:0005897Severe generalized osteoporosis2ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA126421732608041
HP:0000939HP:0005897Severe generalized osteoporosis2ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0000939HP:0005653Moderate generalized osteoporosis2ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0000939HP:0005625Osteoporosis of vertebrae2ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM126421732608041
HP:0000939HP:0005625Osteoporosis of vertebrae2AR CL E G H36799429ORPHA1556644313700
HP:0000939HP:0005897Severe generalized osteoporosis2AR CL E G H36799429ORPHA1556644313700
HP:0000939HP:0005653Moderate generalized osteoporosis2AR CL E G H36799429ORPHA1556644313700
HP:0000939HP:0005625Osteoporosis of vertebrae2ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000939HP:0005897Severe generalized osteoporosis2ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000939HP:0005653Moderate generalized osteoporosis2ARMC5 CL E G H79798189427ORPHA110025781615549
HP:0000939HP:0005625Osteoporosis of vertebrae2ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000939HP:0005897Severe generalized osteoporosis2ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000939HP:0005653Moderate generalized osteoporosis2ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM110025781615549
HP:0000939HP:0005653Moderate generalized osteoporosis2ASAH1 CL E G H427333ORPHA1712735613468
HP:0000939HP:0005625Osteoporosis of vertebrae2ASAH1 CL E G H427333ORPHA1712735613468
HP:0000939HP:0005897Severe generalized osteoporosis2ASAH1 CL E G H427333ORPHA1712735613468
HP:0000939HP:0005625Osteoporosis of vertebrae2ATP7A CL E G H538198ORPHA11283869300011
HP:0000939HP:0005897Severe generalized osteoporosis2ATP7A CL E G H538198ORPHA11283869300011
HP:0000939HP:0005653Moderate generalized osteoporosis2ATP7A CL E G H538198ORPHA11283869300011
HP:0000939HP:0005897Severe generalized osteoporosis2ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000939HP:0005653Moderate generalized osteoporosis2ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000939HP:0005625Osteoporosis of vertebrae2ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11283869300011
HP:0000939HP:0005625Osteoporosis of vertebrae2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0000939HP:0005897Severe generalized osteoporosis2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0000939HP:0005653Moderate generalized osteoporosis2ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11283869300011
HP:0000939HP:0005625Osteoporosis of vertebrae2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0000939HP:0005897Severe generalized osteoporosis2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0000939HP:0005653Moderate generalized osteoporosis2ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11806870606882
HP:0000939HP:0005625Osteoporosis of vertebrae2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000939HP:0005897Severe generalized osteoporosis2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000939HP:0005653Moderate generalized osteoporosis2B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM136617978615291
HP:0000939HP:0005897Severe generalized osteoporosis2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0000939HP:0005653Moderate generalized osteoporosis2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0000939HP:0005625Osteoporosis of vertebrae2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1154923606374
HP:0000939HP:0005625Osteoporosis of vertebrae2BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000939HP:0005897Severe generalized osteoporosis2BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000939HP:0005653Moderate generalized osteoporosis2BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14717397603811
HP:0000939HP:0005625Osteoporosis of vertebrae2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0000939HP:0005897Severe generalized osteoporosis2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0000939HP:0005653Moderate generalized osteoporosis2CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM123919721613165
HP:0000939HP:0005653Moderate generalized osteoporosis2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000939HP:0005625Osteoporosis of vertebrae2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000939HP:0005897Severe generalized osteoporosis2CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11129688603198
HP:0000939HP:0005625Osteoporosis of vertebrae2CBS CL E G H875394ORPHA19671550613381
HP:0000939HP:0005897Severe generalized osteoporosis2CBS CL E G H875394ORPHA19671550613381
HP:0000939HP:0005653Moderate generalized osteoporosis2CBS CL E G H875394ORPHA19671550613381
HP:0000939HP:0005625Osteoporosis of vertebrae2CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000939HP:0005897Severe generalized osteoporosis2CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000939HP:0005653Moderate generalized osteoporosis2CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM19671550613381
HP:0000939HP:0005897Severe generalized osteoporosis2CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM112212771603400
HP:0000939HP:0005653Moderate generalized osteoporosis2CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM112212771603400
HP:0000939HP:0005625Osteoporosis of vertebrae2CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM112212771603400
HP:0000939HP:0005625Osteoporosis of vertebrae2CDC73 CL E G H79577143ORPHA1114816783607393
HP:0000939HP:0005897Severe generalized osteoporosis2CDC73 CL E G H79577143ORPHA1114816783607393
HP:0000939HP:0005625Osteoporosis of vertebrae2CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0000939HP:0005653Moderate generalized osteoporosis2CDC73 CL E G H79577143ORPHA1114816783607393
HP:0000939HP:0005897Severe generalized osteoporosis2CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0000939HP:0005653Moderate generalized osteoporosis2CDC73 CL E G H7957799880ORPHA1114816783607393
HP:0000939HP:0005625Osteoporosis of vertebrae2CDH23 CL E G H640722965ORPHA1360413733605516
HP:0000939HP:0005625Osteoporosis of vertebrae2CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000939HP:0005625Osteoporosis of vertebrae2CDH23 CL E G H6407291347ORPHA1360413733605516
HP:0000939HP:0005897Severe generalized osteoporosis2CDH23 CL E G H640722965ORPHA1360413733605516
HP:0000939HP:0005897Severe generalized osteoporosis2CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000939HP:0005897Severe generalized osteoporosis2CDH23 CL E G H6407291347ORPHA1360413733605516
HP:0000939HP:0005653Moderate generalized osteoporosis2CDH23 CL E G H640722965ORPHA1360413733605516
HP:0000939HP:0005653Moderate generalized osteoporosis2CDH23 CL E G H6407296253ORPHA1360413733605516
HP:0000939HP:0005653Moderate generalized osteoporosis2CDH23 CL E G H6407291347ORPHA1360413733605516
HP:0000939HP:0005625Osteoporosis of vertebrae2CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000939HP:0005897Severe generalized osteoporosis2CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000939HP:0005653Moderate generalized osteoporosis2CHD7 CL E G H55636432ArbovirosisORPHA1231820626608892
HP:0000939HP:0005625Osteoporosis of vertebrae2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0000939HP:0005897Severe generalized osteoporosis2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0000939HP:0005653Moderate generalized osteoporosis2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13521971603799
HP:0000939HP:0005653Moderate generalized osteoporosis2COL7A1 CL E G H129479408ORPHA126162214120120
HP:0000939HP:0005625Osteoporosis of vertebrae2COL7A1 CL E G H129479408ORPHA126162214120120
HP:0000939HP:0005897Severe generalized osteoporosis2COL7A1 CL E G H129479408ORPHA126162214120120
HP:0000939HP:0005625Osteoporosis of vertebrae2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0000939HP:0005897Severe generalized osteoporosis2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0000939HP:0005653Moderate generalized osteoporosis2CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM1104426169613129
HP:0000939HP:0005653Moderate generalized osteoporosis2CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000939HP:0005625Osteoporosis of vertebrae2CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000939HP:0005897Severe generalized osteoporosis2CTDP1 CL E G H915048431ORPHA13832498604927
HP:0000939HP:0005653Moderate generalized osteoporosis2CYB5A CL E G H152890796ORPHA11622570613218
HP:0000939HP:0005625Osteoporosis of vertebrae2CYB5A CL E G H152890796ORPHA11622570613218
HP:0000939HP:0005897Severe generalized osteoporosis2CYB5A CL E G H152890796ORPHA11622570613218
HP:0000939HP:0005897Severe generalized osteoporosis2CYP11A1 CL E G H1583168558ORPHA11252590118485
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP11A1 CL E G H1583168558ORPHA11252590118485
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP11A1 CL E G H1583289548ORPHA11252590118485
HP:0000939HP:0005897Severe generalized osteoporosis2CYP11A1 CL E G H1583289548ORPHA11252590118485
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP11A1 CL E G H1583289548ORPHA11252590118485
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP11A1 CL E G H1583168558ORPHA11252590118485
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0000939HP:0005897Severe generalized osteoporosis2CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP11B1 CL E G H158490795ORPHA15822591610613
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP17A1 CL E G H158690793ORPHA13112593609300
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP17A1 CL E G H158690796ORPHA13112593609300
HP:0000939HP:0005897Severe generalized osteoporosis2CYP17A1 CL E G H158690796ORPHA13112593609300
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP17A1 CL E G H158690793ORPHA13112593609300
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP17A1 CL E G H158690796ORPHA13112593609300
HP:0000939HP:0005897Severe generalized osteoporosis2CYP17A1 CL E G H158690793ORPHA13112593609300
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000939HP:0005897Severe generalized osteoporosis2CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA13412594107910
HP:0000939HP:0005625Osteoporosis of vertebrae2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0000939HP:0005897Severe generalized osteoporosis2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0000939HP:0005653Moderate generalized osteoporosis2CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM17512605606530
HP:0000939HP:0005625Osteoporosis of vertebrae2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0000939HP:0005897Severe generalized osteoporosis2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0000939HP:0005653Moderate generalized osteoporosis2DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14772890300126
HP:0000939HP:0005625Osteoporosis of vertebrae2DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0005897Severe generalized osteoporosis2DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0005653Moderate generalized osteoporosis2DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0005897Severe generalized osteoporosis2DMRT3 CL E G H58524251510ORPHA121013909614754
HP:0000939HP:0005653Moderate generalized osteoporosis2DMRT3 CL E G H58524251510ORPHA121013909614754
HP:0000939HP:0005625Osteoporosis of vertebrae2DMRT3 CL E G H58524251510ORPHA121013909614754
HP:0000939HP:0005653Moderate generalized osteoporosis2DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000939HP:0005625Osteoporosis of vertebrae2DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000939HP:0005897Severe generalized osteoporosis2DUSP6 CL E G H1848432ArbovirosisORPHA1513072602748
HP:0000939HP:0005625Osteoporosis of vertebrae2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0000939HP:0005897Severe generalized osteoporosis2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0000939HP:0005653Moderate generalized osteoporosis2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA13593255604032
HP:0000939HP:0005625Osteoporosis of vertebrae2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000939HP:0005897Severe generalized osteoporosis2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000939HP:0005653Moderate generalized osteoporosis2EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM13593255604032
HP:0000939HP:0005897Severe generalized osteoporosis2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0000939HP:0005653Moderate generalized osteoporosis2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0000939HP:0005625Osteoporosis of vertebrae2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17633327130160
HP:0000939HP:0005897Severe generalized osteoporosis2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000939HP:0005653Moderate generalized osteoporosis2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000939HP:0005625Osteoporosis of vertebrae2ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM111703438609413
HP:0000939HP:0005897Severe generalized osteoporosis2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0000939HP:0005653Moderate generalized osteoporosis2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0000939HP:0005625Osteoporosis of vertebrae2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM111703438609413
HP:0000939HP:0005625Osteoporosis of vertebrae2ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000939HP:0005897Severe generalized osteoporosis2ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000939HP:0005653Moderate generalized osteoporosis2ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11913467133430
HP:0000939HP:0005625Osteoporosis of vertebrae2FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000939HP:0005897Severe generalized osteoporosis2FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000939HP:0005653Moderate generalized osteoporosis2FGF17 CL E G H8822432ArbovirosisORPHA11003673603725
HP:0000939HP:0005653Moderate generalized osteoporosis2FGF8 CL E G H2253432ArbovirosisORPHA1773686600483
HP:0000939HP:0005625Osteoporosis of vertebrae2FGF8 CL E G H2253432ArbovirosisORPHA1773686600483
HP:0000939HP:0005897Severe generalized osteoporosis2