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
..expand
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 H100601517ORPHA1104360601439
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H100601517ORPHA190960601439
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM190960601439
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1104360601439
HP:0000939HP:0000939Osteoporosis0ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0000939HP:0000939Osteoporosis0ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0000939HP:0000939Osteoporosis0AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1161303602981
HP:0000939HP:0000939Osteoporosis0AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM197303602981
HP:0000939HP:0000939Osteoporosis0AIP CL E G H90492965ORPHA1487358605555
HP:0000939HP:0000939Osteoporosis0AIP CL E G H90492965ORPHA1395358605555
HP:0000939HP:0000939Osteoporosis0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0000939HP:0000939Osteoporosis0AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0000939HP:0000939Osteoporosis0ALB CL E G H213616000Analbuminemia616000C0878666OMIM1152399103600
HP:0000939HP:0000939Osteoporosis0ALB CL E G H213616000Analbuminemia616000C0878666OMIM1148399103600
HP:0000939HP:0000939Osteoporosis0ANOS1 CL E G H3730432ArbovirosisORPHA14196211300836
HP:0000939HP:0000939Osteoporosis0ANOS1 CL E G H3730432ArbovirosisORPHA13926211300836
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM125321732608041
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM124721732608041
HP:0000939HP:0000939Osteoporosis0AR CL E G H36799429ORPHA1525644313700
HP:0000939HP:0000939Osteoporosis0AR CL E G H36799429ORPHA1479644313700
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H79798189427ORPHA18925781615549
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H79798189427ORPHA18825781615549
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18925781615549
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18825781615549
HP:0000939HP:0000939Osteoporosis0ASAH1 CL E G H427333ORPHA1593735613468
HP:0000939HP:0000939Osteoporosis0ASAH1 CL E G H427333ORPHA1420735613468
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538198ORPHA11003869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538198ORPHA1897869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1897869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11003869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1897869300011
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11003869300011
HP:0000939HP:0000939Osteoporosis0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0000939HP:0000939Osteoporosis0ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0000939HP:0000939Osteoporosis0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000939HP:0000939Osteoporosis0B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000939HP:0000939Osteoporosis0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0000939HP:0000939Osteoporosis0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0000939HP:0000939Osteoporosis0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0000939HP:0000939Osteoporosis0BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0000939HP:0000939Osteoporosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0000939HP:0000939Osteoporosis0CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0000939HP:0000939Osteoporosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0000939HP:0000939Osteoporosis0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0000939HP:0000939Osteoporosis0CBS CL E G H875394ORPHA18561550613381
HP:0000939HP:0000939Osteoporosis0CBS CL E G H875394ORPHA17921550613381
HP:0000939HP:0000939Osteoporosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0000939HP:0000939Osteoporosis0CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0000939HP:0000939Osteoporosis0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0000939HP:0000939Osteoporosis0CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H7957799880ORPHA182816783607393
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H7957799880ORPHA170416783607393
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H79577143ORPHA182816783607393
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H79577143ORPHA170416783607393
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407291347ORPHA1307513733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407296253ORPHA1307513733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407291347ORPHA1261213733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407296253ORPHA1261213733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H640722965ORPHA1307513733605516
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H640722965ORPHA1261213733605516
HP:0000939HP:0000939Osteoporosis0CHD7 CL E G H55636432ArbovirosisORPHA1198020626608892
HP:0000939HP:0000939Osteoporosis0CHD7 CL E G H55636432ArbovirosisORPHA1175220626608892
HP:0000939HP:0000939Osteoporosis0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0000939HP:0000939Osteoporosis0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0000939HP:0000939Osteoporosis0COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000939HP:0000939Osteoporosis0COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000939HP:0000939Osteoporosis0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0000939HP:0000939Osteoporosis0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0000939HP:0000939Osteoporosis0CTDP1 CL E G H915048431ORPHA13482498604927
HP:0000939HP:0000939Osteoporosis0CTDP1 CL E G H915048431ORPHA13232498604927
HP:0000939HP:0000939Osteoporosis0CYB5A CL E G H152890796ORPHA11482570613218
HP:0000939HP:0000939Osteoporosis0CYB5A CL E G H152890796ORPHA11452570613218
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H1583289548ORPHA11142590118485
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H1583168558ORPHA11202590118485
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H1583168558ORPHA11142590118485
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H1583289548ORPHA11202590118485
HP:0000939HP:0000939Osteoporosis0CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0000939HP:0000939Osteoporosis0CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H158690796ORPHA12572593609300
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H158690793ORPHA12572593609300
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H158690796ORPHA12322593609300
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H158690793ORPHA12322593609300
HP:0000939HP:0000939Osteoporosis0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0000939HP:0000939Osteoporosis0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0000939HP:0000939Osteoporosis0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0000939HP:0000939Osteoporosis0CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0000939HP:0000939Osteoporosis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000939HP:0000939Osteoporosis0DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000939HP:0000939Osteoporosis0DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0000939Osteoporosis0DMRT3 CL E G H58524251510ORPHA119613909614754
HP:0000939HP:0000939Osteoporosis0DMRT3 CL E G H58524251510ORPHA119813909614754
HP:0000939HP:0000939Osteoporosis0DUSP6 CL E G H1848432ArbovirosisORPHA1463072602748
HP:0000939HP:0000939Osteoporosis0DUSP6 CL E G H1848432ArbovirosisORPHA1413072602748
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0000939HP:0000939Osteoporosis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0000939HP:0000939Osteoporosis0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000939HP:0000939Osteoporosis0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11853467133430
HP:0000939HP:0000939Osteoporosis0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11813467133430
HP:0000939HP:0000939Osteoporosis0FGF17 CL E G H8822432ArbovirosisORPHA1953673603725
HP:0000939HP:0000939Osteoporosis0FGF17 CL E G H8822432ArbovirosisORPHA1933673603725
HP:0000939HP:0000939Osteoporosis0FGF8 CL E G H2253432ArbovirosisORPHA1693686600483
HP:0000939HP:0000939Osteoporosis0FGF8 CL E G H2253432ArbovirosisORPHA1663686600483
HP:0000939HP:0000939Osteoporosis0FGFR1 CL E G H2260432ArbovirosisORPHA15973688136350
HP:0000939HP:0000939Osteoporosis0FGFR1 CL E G H2260432ArbovirosisORPHA15303688136350
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM119218169607063
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM124118169607063
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA124118169607063
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA119218169607063
HP:0000939HP:0000939Osteoporosis0FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11703969136435
HP:0000939HP:0000939Osteoporosis0FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11653969136435
HP:0000939HP:0000939Osteoporosis0G6PC CL E G H2538232200Glycogen storage disease type 1A232200C2919796OMIM14056613742
HP:0000939HP:0000939Osteoporosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18174122612222
HP:0000939HP:0000939Osteoporosis0GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18774122612222
HP:0000939HP:0000939Osteoporosis0GALT CL E G H259279239ORPHA15644135606999
HP:0000939HP:0000939Osteoporosis0GALT CL E G H259279239ORPHA15194135606999
HP:0000939HP:0000939Osteoporosis0GATA4 CL E G H2626251510ORPHA14644173600576
HP:0000939HP:0000939Osteoporosis0GATA4 CL E G H2626251510ORPHA15414173600576
HP:0000939HP:0000939Osteoporosis0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0000939HP:0000939Osteoporosis0GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0000939HP:0000939Osteoporosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15074298611458
HP:0000939HP:0000939Osteoporosis0GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15964298611458
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778189427ORPHA13714392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778189427ORPHA13334392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13714392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13334392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13714392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13334392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13714392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13334392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13714392139320
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13334392139320
HP:0000939HP:0000939Osteoporosis0GNRH1 CL E G H2796432ArbovirosisORPHA11124419152760
HP:0000939HP:0000939Osteoporosis0GNRH1 CL E G H2796432ArbovirosisORPHA11074419152760
HP:0000939HP:0000939Osteoporosis0GNRHR CL E G H2798432ArbovirosisORPHA11734421138850
HP:0000939HP:0000939Osteoporosis0GNRHR CL E G H2798432ArbovirosisORPHA11664421138850
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H923442078ORPHA117425676607983
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H923442078ORPHA113025676607983
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0000939HP:0000939Osteoporosis0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000939HP:0000939Osteoporosis0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000939HP:0000939Osteoporosis0HBB CL E G H3043231214ORPHA112704827141900
HP:0000939HP:0000939Osteoporosis0HBB CL E G H3043231214ORPHA112834827141900
HP:0000939HP:0000939Osteoporosis0HBB CL E G H3043232Medullary sponge kidneyORPHA112834827141900
HP:0000939HP:0000939Osteoporosis0HBB CL E G H3043232Medullary sponge kidneyORPHA112704827141900
HP:0000939HP:0000939Osteoporosis0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11494886613609
HP:0000939HP:0000939Osteoporosis0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11574886613609
HP:0000939HP:0000939Osteoporosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11655154601688
HP:0000939HP:0000939Osteoporosis0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11835154601688
HP:0000939HP:0000939Osteoporosis0HS6ST1 CL E G H9394432ArbovirosisORPHA1725201604846
HP:0000939HP:0000939Osteoporosis0HS6ST1 CL E G H9394432ArbovirosisORPHA1645201604846
HP:0000939HP:0000939Osteoporosis0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0000939HP:0000939Osteoporosis0HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0000939HP:0000939Osteoporosis0HSD3B2 CL E G H328490791ORPHA11885218613890
HP:0000939HP:0000939Osteoporosis0HSD3B2 CL E G H328490791ORPHA11725218613890
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000939HP:0000939Osteoporosis0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0000939HP:0000939Osteoporosis0IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H557641515ORPHA139113556606045
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H557641515ORPHA131713556606045
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM139113556606045
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM131713556606045
HP:0000939HP:0000939Osteoporosis0IFT43 CL E G H1127521515ORPHA116229669614068
HP:0000939HP:0000939Osteoporosis0IFT43 CL E G H1127521515ORPHA112929669614068
HP:0000939HP:0000939Osteoporosis0IFT52 CL E G H510981515ORPHA18215901617094
HP:0000939HP:0000939Osteoporosis0IFT52 CL E G H510981515ORPHA15715901617094
HP:0000939HP:0000939Osteoporosis0IGF1 CL E G H347973272ORPHA11785464147440
HP:0000939HP:0000939Osteoporosis0IGF1 CL E G H347973272ORPHA11705464147440
HP:0000939HP:0000939Osteoporosis0KCNJ8 CL E G H37641517ORPHA11276269600935
HP:0000939HP:0000939Osteoporosis0KCNJ8 CL E G H37641517ORPHA11076269600935
HP:0000939HP:0000939Osteoporosis0KISS1 CL E G H3814432ArbovirosisORPHA1416341603286
HP:0000939HP:0000939Osteoporosis0KISS1R CL E G H84634432ArbovirosisORPHA11134510604161
HP:0000939HP:0000939Osteoporosis0KISS1R CL E G H84634432ArbovirosisORPHA11004510604161
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H39773206ORPHA16106597151443
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H39773206ORPHA15546597151443
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM15546597151443
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H3977601559Stuve-Wiedemann syndrome601559C0796176OMIM16106597151443
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H400079474ORPHA114866636150330
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H400079474ORPHA113476636150330
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H4000740Aortic arch interruptionORPHA114866636150330
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H4000740Aortic arch interruptionORPHA113476636150330
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H40412788ORPHA111276697603506
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H40412788ORPHA18616697603506
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM18616697603506
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H4041259770Osteoporosis with pseudoglioma259770C0432252OMIM111276697603506
HP:0000939HP:0000939Osteoporosis0MAP3K1 CL E G H4214251510ORPHA11516848600982
HP:0000939HP:0000939Osteoporosis0MAP3K1 CL E G H4214251510ORPHA11686848600982
HP:0000939HP:0000939Osteoporosis0MEN1 CL E G H42212965ORPHA115597010613733
HP:0000939HP:0000939Osteoporosis0MEN1 CL E G H42212965ORPHA114117010613733
HP:0000939HP:0000939Osteoporosis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0000939HP:0000939Osteoporosis0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0000939HP:0000939Osteoporosis0MMP1 CL E G H431279408ORPHA1657155120353
HP:0000939HP:0000939Osteoporosis0MMP1 CL E G H431279408ORPHA1637155120353
HP:0000939HP:0000939Osteoporosis0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000939HP:0000939Osteoporosis0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000939HP:0000939Osteoporosis0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM113614377606470
HP:0000939HP:0000939Osteoporosis0NHP2 CL E G H55651224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM111314377606470
HP:0000939HP:0000939Osteoporosis0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18814378606471
HP:0000939HP:0000939Osteoporosis0NOP10 CL E G H55505224230Dyskeratosis congenita autosomal recessive 1224230C1857144OMIM18014378606471
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H4853955ORPHA16277882600275
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H4853955ORPHA15267882600275
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0000939HP:0000939Osteoporosis0NR0B1 CL E G H190251510ORPHA12867960300473
HP:0000939HP:0000939Osteoporosis0NR0B1 CL E G H190251510ORPHA12967960300473
HP:0000939HP:0000939Osteoporosis0NR5A1 CL E G H2516251510ORPHA11617983184757
HP:0000939HP:0000939Osteoporosis0NR5A1 CL E G H2516251510ORPHA11777983184757
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H26012432ArbovirosisORPHA114029843608137
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H26012432ArbovirosisORPHA113729843608137
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM114029843608137
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM113729843608137
HP:0000939HP:0000939Osteoporosis0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16068653232000
HP:0000939HP:0000939Osteoporosis0PCCA CL E G H5095606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM17498653232000
HP:0000939HP:0000939Osteoporosis0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM14808654232050
HP:0000939HP:0000939Osteoporosis0PCCB CL E G H5096606054Propionyl-CoA carboxylase deficiency606054C0268579OMIM16188654232050
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11378773604961
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11458773604961
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11458773604961
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11378773604961
HP:0000939HP:0000939Osteoporosis0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11558794603390
HP:0000939HP:0000939Osteoporosis0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA11398794603390
HP:0000939HP:0000939Osteoporosis0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM12458854601758
HP:0000939HP:0000939Osteoporosis0PEX12 CL E G H5193266510Infantile Refsum's disease266510C0282527OMIM13208854601758
HP:0000939HP:0000939Osteoporosis0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0000939HP:0000939Osteoporosis0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0000939HP:0000939Osteoporosis0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM16619081153454
HP:0000939HP:0000939Osteoporosis0PLOD1 CL E G H5351225400Ehlers-Danlos syndrome, hydroxylysine-deficient225400C0268342OMIM15859081153454
HP:0000939HP:0000939Osteoporosis0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA12629082601865
HP:0000939HP:0000939Osteoporosis0PLOD2 CL E G H53522771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA12119082601865
HP:0000939HP:0000939Osteoporosis0PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12279091300131
HP:0000939HP:0000939Osteoporosis0PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12549091300131
HP:0000939HP:0000939Osteoporosis0POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM122013711300603
HP:0000939HP:0000939Osteoporosis0POF1B CL E G H79983300604Premature ovarian failure 2b300604C1845105OMIM122313711300603
HP:0000939HP:0000939Osteoporosis0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM131249175174761
HP:0000939HP:0000939Osteoporosis0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM127829175174761
HP:0000939HP:0000939Osteoporosis0POR CL E G H544795699ORPHA13599208124015
HP:0000939HP:0000939Osteoporosis0POR CL E G H544795699ORPHA12849208124015
HP:0000939HP:0000939Osteoporosis0PRDM5 CL E G H1110790354ORPHA12169349614161
HP:0000939HP:0000939Osteoporosis0PRDM5 CL E G H1110790354ORPHA11979349614161
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, 1610489C1864846OMIM16239388188830
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM17259388188830
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA16239388188830
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA17259388188830
HP:0000939HP:0000939Osteoporosis0PROK2 CL E G H60675432ArbovirosisORPHA15418455607002
HP:0000939HP:0000939Osteoporosis0PROK2 CL E G H60675432ArbovirosisORPHA15018455607002
HP:0000939HP:0000939Osteoporosis0PROKR2 CL E G H128674432ArbovirosisORPHA112715836607123
HP:0000939HP:0000939Osteoporosis0PROKR2 CL E G H128674432ArbovirosisORPHA112015836607123
HP:0000939HP:0000939Osteoporosis0PYCR1 CL E G H58312078ORPHA11939721179035
HP:0000939HP:0000939Osteoporosis0PYCR1 CL E G H58312078ORPHA11749721179035
HP:0000939HP:0000939Osteoporosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM127017063602536
HP:0000939HP:0000939Osteoporosis0RAB3GAP1 CL E G H22930600118Warburg micro syndrome 1600118C1838625OMIM129017063602536
HP:0000939HP:0000939Osteoporosis0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM127519949603780
HP:0000939HP:0000939Osteoporosis0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM132749949603780
HP:0000939HP:0000939Osteoporosis0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000939HP:0000939Osteoporosis0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000939HP:0000939Osteoporosis0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM18910301604175
HP:0000939HP:0000939Osteoporosis0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM18210301604175
HP:0000939HP:0000939Osteoporosis0RUNX2 CL E G H8601452ORPHA133310472600211
HP:0000939HP:0000939Osteoporosis0RUNX2 CL E G H8601452ORPHA126510472600211
HP:0000939HP:0000939Osteoporosis0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM134129242613293
HP:0000939HP:0000939Osteoporosis0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM138529242613293
HP:0000939HP:0000939Osteoporosis0SLC25A19 CL E G H6038699742ORPHA112914409606521
HP:0000939HP:0000939Osteoporosis0SLC25A19 CL E G H6038699742ORPHA112014409606521
HP:0000939HP:0000939Osteoporosis0SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM131111019182309
HP:0000939HP:0000939Osteoporosis0SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM127511019182309
HP:0000939HP:0000939Osteoporosis0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM17684061602671
HP:0000939HP:0000939Osteoporosis0SLC37A4 CL E G H2542232220Glucose-6-phosphate transport defect232220C0268146OMIM17204061602671
HP:0000939HP:0000939Osteoporosis0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM146611065603593
HP:0000939HP:0000939Osteoporosis0SLC7A7 CL E G H9056222700Lysinuric protein intolerance222700C0268647OMIM140611065603593
HP:0000939HP:0000939Osteoporosis0SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM15911075604990
HP:0000939HP:0000939Osteoporosis0SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM15211075604990
HP:0000939HP:0000939Osteoporosis0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM160511120607608
HP:0000939HP:0000939Osteoporosis0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM165211120607608
HP:0000939HP:0000939Osteoporosis0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM124411123300105
HP:0000939HP:0000939Osteoporosis0SMS CL E G H6611309583Snyder Robinson syndrome309583C0796160OMIM125611123300105
HP:0000939HP:0000939Osteoporosis0SOX9 CL E G H6662251510ORPHA121111204608160
HP:0000939HP:0000939Osteoporosis0SOX9 CL E G H6662251510ORPHA124211204608160
HP:0000939HP:0000939Osteoporosis0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM18611219182120
HP:0000939HP:0000939Osteoporosis0SPARC CL E G H6678616507Osteogenesis imperfecta, type xvii616507C4225301OMIM16311219182120
HP:0000939HP:0000939Osteoporosis0SPRY4 CL E G H81848432ArbovirosisORPHA14115533607984
HP:0000939HP:0000939Osteoporosis0SPRY4 CL E G H81848432ArbovirosisORPHA13815533607984
HP:0000939HP:0000939Osteoporosis0SRY CL E G H6736251510ORPHA19911311480000
HP:0000939HP:0000939Osteoporosis0SRY CL E G H6736251510ORPHA110911311480000
HP:0000939HP:0000939Osteoporosis0TAC3 CL E G H6866432ArbovirosisORPHA12211521162330
HP:0000939HP:0000939Osteoporosis0TACR3 CL E G H6870432ArbovirosisORPHA110711528162332
HP:0000939HP:0000939Osteoporosis0TACR3 CL E G H6870432ArbovirosisORPHA110011528162332
HP:0000939HP:0000939Osteoporosis0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM129111727602322
HP:0000939HP:0000939Osteoporosis0TERC CL E G H7012127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM122711727602322
HP:0000939HP:0000939Osteoporosis0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1188711730187270
HP:0000939HP:0000939Osteoporosis0TERT CL E G H7015127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM1160611730187270
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM128811824604319
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H26277127550Dyskeratosis congenita autosomal dominant127550C1851970OMIM123011824604319
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM128811824604319
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H26277613990Dyskeratosis congenita, autosomal dominant, 3613990C3151445OMIM123011824604319
HP:0000939HP:0000939Osteoporosis0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM110830760614726
HP:0000939HP:0000939Osteoporosis0TMEM165 CL E G H55858614727Congenital disorder of glycosylation type 2k614727C3553571OMIM19130760614726
HP:0000939HP:0000939Osteoporosis0TNFRSF11A CL E G H87922801ORPHA134811908603499
HP:0000939HP:0000939Osteoporosis0TNFRSF11A CL E G H87922801ORPHA125411908603499
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H49822801ORPHA114311909602643
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H49822801ORPHA112311909602643
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM112311909602643
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H4982239000Hyperphosphatasemia with bone disease239000C0268414OMIM114311909602643
HP:0000939HP:0000939Osteoporosis0TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM155112305604505
HP:0000939HP:0000939Osteoporosis0TRIP11 CL E G H9321184260Goldblatt hypertension184260C0018036OMIM145912305604505
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H910196253ORPHA111512631603158
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H910196253ORPHA19812631603158
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM111512631603158
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H9101219090Pituitary dependent hypercortisolism219090C0221406OMIM19812631603158
HP:0000939HP:0000939Osteoporosis0VAMP7 CL E G H6845251510ORPHA112411486300053
HP:0000939HP:0000939Osteoporosis0VAMP7 CL E G H6845251510ORPHA112511486300053
HP:0000939HP:0000939Osteoporosis0VDR CL E G H7421166710Postmenopausal osteoporosis166710C0029458OMIM125612679601769
HP:0000939HP:0000939Osteoporosis0VDR CL E G H7421166710Postmenopausal osteoporosis166710C0029458OMIM123912679601769
HP:0000939HP:0000939Osteoporosis0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM130425608615850
HP:0000939HP:0000939Osteoporosis0VPS53 CL E G H55275615851Pontocerebellar hypoplasia, type 2e615851C4014488OMIM129825608615850
HP:0000939HP:0000939Osteoporosis0WDR11 CL E G H55717432ArbovirosisORPHA128313831606417
HP:0000939HP:0000939Osteoporosis0WDR11 CL E G H55717432ArbovirosisORPHA127413831606417
HP:0000939HP:0000939Osteoporosis0WDR19 CL E G H577281515ORPHA164218340608151
HP:0000939HP:0000939Osteoporosis0WDR19 CL E G H577281515ORPHA147718340608151
HP:0000939HP:0000939Osteoporosis0WDR35 CL E G H575391515ORPHA147429250613602
HP:0000939HP:0000939Osteoporosis0WDR35 CL E G H575391515ORPHA140129250613602
HP:0000939HP:0000939Osteoporosis0WNT1 CL E G H747185193ORPHA19512774164820
HP:0000939HP:0000939Osteoporosis0WNT1 CL E G H747185193ORPHA16212774164820
HP:0000939HP:0000939Osteoporosis0WNT3A CL E G H8978085193ORPHA16315983606359
HP:0000939HP:0000939Osteoporosis0WNT3A CL E G H8978085193ORPHA14215983606359
HP:0000939HP:0000939Osteoporosis0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1239112791604611
HP:0000939HP:0000939Osteoporosis0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1194712791604611
HP:0000939HP:0000939Osteoporosis0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1194712791604611
HP:0000939HP:0000939Osteoporosis0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1239112791604611
HP:0000939HP:0000939Osteoporosis0WT1 CL E G H7490251510ORPHA187312796607102
HP:0000939HP:0000939Osteoporosis0WT1 CL E G H7490251510ORPHA1101812796607102
HP:0000939HP:0000939Osteoporosis0WWOX CL E G H51741251510ORPHA176712799605131
HP:0000939HP:0000939Osteoporosis0WWOX CL E G H51741251510ORPHA187912799605131
HP:0000939HP:0000939Osteoporosis0XYLT2 CL E G H6413285194ORPHA113015517608125
HP:0000939HP:0000939Osteoporosis0XYLT2 CL E G H6413285194ORPHA18315517608125
HP:0000939HP:0000939Osteoporosis0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM113213503606025
HP:0000939HP:0000939Osteoporosis0ZBTB20 CL E G H26137259050Primrose syndrome259050C0796121OMIM114113503606025
HP:0000939HP:0000939Osteoporosis0ZFPM2 CL E G H23414251510ORPHA119516700603693
HP:0000939HP:0000939Osteoporosis0ZFPM2 CL E G H23414251510ORPHA121116700603693
HP:0000939HP:0000939Osteoporosis0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA116712877606480
HP:0000939HP:0000939Osteoporosis0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA114912877606480
HP:0000939HP:0000939Osteoporosis0ZNF469 CL E G H8462790354ORPHA1119023216612078
HP:0000939HP:0000939Osteoporosis0ZNF469 CL E G H8462790354ORPHA191623216612078
HP:0000939HP:0040161Localized osteoporosis1ABCC9 CL E G H100601517ORPHA190960601439
HP:0000939HP:0040160Generalized osteoporosis1ABCC9 CL E G H100601517ORPHA1104360601439
HP:0000939HP:0040160Generalized osteoporosis1ABCC9 CL E G H100601517ORPHA190960601439
HP:0000939HP:0040161Localized osteoporosis1ABCC9 CL E G H100601517ORPHA1104360601439
HP:0000939HP:0040160Generalized osteoporosis1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM190960601439
HP:0000939HP:0040161Localized osteoporosis1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1104360601439
HP:0000939HP:0040161Localized osteoporosis1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM190960601439
HP:0000939HP:0040160Generalized osteoporosis1ABCC9 CL E G H10060239850Hypertrichotic osteochondrodysplasia239850C0795905OMIM1104360601439
HP:0000939HP:0040161Localized osteoporosis1ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0000939HP:0040160Generalized osteoporosis1ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0000939HP:0040160Generalized osteoporosis1ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0000939HP:0040161Localized osteoporosis1ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0000939HP:0040161Localized osteoporosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1161303602981
HP:0000939HP:0040161Localized osteoporosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM197303602981
HP:0000939HP:0040160Generalized osteoporosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM1161303602981
HP:0000939HP:0040160Generalized osteoporosis1AEBP1 CL E G H165618000EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2618000CN248508OMIM197303602981
HP:0000939HP:0040161Localized osteoporosis1AIP CL E G H90492965ORPHA1487358605555
HP:0000939HP:0040161Localized osteoporosis1AIP CL E G H90492965ORPHA1395358605555
HP:0000939HP:0040160Generalized osteoporosis1AIP CL E G H90492965ORPHA1487358605555
HP:0000939HP:0040160Generalized osteoporosis1AIP CL E G H90492965ORPHA1395358605555
HP:0000939HP:0040160Generalized osteoporosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0000939HP:0040160Generalized osteoporosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0000939HP:0040161Localized osteoporosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1487358605555
HP:0000939HP:0040161Localized osteoporosis1AIP CL E G H9049219090Pituitary dependent hypercortisolism219090C0221406OMIM1395358605555
HP:0000939HP:0040161Localized osteoporosis1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1152399103600
HP:0000939HP:0040161Localized osteoporosis1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1148399103600
HP:0000939HP:0040160Generalized osteoporosis1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1152399103600
HP:0000939HP:0040160Generalized osteoporosis1ALB CL E G H213616000Analbuminemia616000C0878666OMIM1148399103600
HP:0000939HP:0040161Localized osteoporosis1ANOS1 CL E G H3730432ArbovirosisORPHA14196211300836
HP:0000939HP:0040161Localized osteoporosis1ANOS1 CL E G H3730432ArbovirosisORPHA13926211300836
HP:0000939HP:0040160Generalized osteoporosis1ANOS1 CL E G H3730432ArbovirosisORPHA14196211300836
HP:0000939HP:0040160Generalized osteoporosis1ANOS1 CL E G H3730432ArbovirosisORPHA13926211300836
HP:0000939HP:0040161Localized osteoporosis1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0000939HP:0040160Generalized osteoporosis1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0000939HP:0040160Generalized osteoporosis1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0000939HP:0040161Localized osteoporosis1ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0000939HP:0040160Generalized osteoporosis1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM125321732608041
HP:0000939HP:0040160Generalized osteoporosis1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM124721732608041
HP:0000939HP:0040161Localized osteoporosis1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM125321732608041
HP:0000939HP:0040161Localized osteoporosis1ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM124721732608041
HP:0000939HP:0040161Localized osteoporosis1AR CL E G H36799429ORPHA1479644313700
HP:0000939HP:0040160Generalized osteoporosis1AR CL E G H36799429ORPHA1525644313700
HP:0000939HP:0040160Generalized osteoporosis1AR CL E G H36799429ORPHA1479644313700
HP:0000939HP:0040161Localized osteoporosis1AR CL E G H36799429ORPHA1525644313700
HP:0000939HP:0040161Localized osteoporosis1ARMC5 CL E G H79798189427ORPHA18825781615549
HP:0000939HP:0040160Generalized osteoporosis1ARMC5 CL E G H79798189427ORPHA18925781615549
HP:0000939HP:0040160Generalized osteoporosis1ARMC5 CL E G H79798189427ORPHA18825781615549
HP:0000939HP:0040161Localized osteoporosis1ARMC5 CL E G H79798189427ORPHA18925781615549
HP:0000939HP:0040161Localized osteoporosis1ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18925781615549
HP:0000939HP:0040161Localized osteoporosis1ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18825781615549
HP:0000939HP:0040160Generalized osteoporosis1ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18925781615549
HP:0000939HP:0040160Generalized osteoporosis1ARMC5 CL E G H79798615954Acth-independent macronodular adrenal hyperplasia 2615954C4014803OMIM18825781615549
HP:0000939HP:0040161Localized osteoporosis1ASAH1 CL E G H427333ORPHA1593735613468
HP:0000939HP:0040161Localized osteoporosis1ASAH1 CL E G H427333ORPHA1420735613468
HP:0000939HP:0040160Generalized osteoporosis1ASAH1 CL E G H427333ORPHA1593735613468
HP:0000939HP:0040160Generalized osteoporosis1ASAH1 CL E G H427333ORPHA1420735613468
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538198ORPHA11003869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538198ORPHA1897869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538198ORPHA11003869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538198ORPHA1897869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1897869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11003869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM1897869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538304150Cutis laxa, X-linked304150C0268353OMIM11003869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1897869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11003869300011
HP:0000939HP:0040161Localized osteoporosis1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM1897869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7A CL E G H538309400Menkes kinky-hair syndrome309400C0022716OMIM11003869300011
HP:0000939HP:0040160Generalized osteoporosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0000939HP:0040161Localized osteoporosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0000939HP:0040161Localized osteoporosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11389870606882
HP:0000939HP:0040160Generalized osteoporosis1ATP7B CL E G H540277900Wilson disease277900C0019202OMIM11579870606882
HP:0000939HP:0040160Generalized osteoporosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000939HP:0040161Localized osteoporosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000939HP:0040161Localized osteoporosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM128117978615291
HP:0000939HP:0040160Generalized osteoporosis1B3GALT6 CL E G H126792271640Spondyloepimetaphyseal dysplasia with joint laxity271640C0432243OMIM133717978615291
HP:0000939HP:0040160Generalized osteoporosis1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0000939HP:0040161Localized osteoporosis1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0000939HP:0040161Localized osteoporosis1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0000939HP:0040160Generalized osteoporosis1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0000939HP:0040160Generalized osteoporosis1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0000939HP:0040160Generalized osteoporosis1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0000939HP:0040161Localized osteoporosis1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14517397603811
HP:0000939HP:0040161Localized osteoporosis1BANF1 CL E G H8815614008Nestor-Guillermo progeria syndrome614008C3151446OMIM14417397603811
HP:0000939HP:0040160Generalized osteoporosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0000939HP:0040161Localized osteoporosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0000939HP:0040161Localized osteoporosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM118519721613165
HP:0000939HP:0040160Generalized osteoporosis1CANT1 CL E G H124583251450Desbuquois dysplasia 1251450C4012146OMIM121819721613165
HP:0000939HP:0040160Generalized osteoporosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0000939HP:0040160Generalized osteoporosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0000939HP:0040161Localized osteoporosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0000939HP:0040161Localized osteoporosis1CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0000939HP:0040161Localized osteoporosis1CBS CL E G H875394ORPHA18561550613381
HP:0000939HP:0040161Localized osteoporosis1CBS CL E G H875394ORPHA17921550613381
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H875394ORPHA18561550613381
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H875394ORPHA17921550613381
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0000939HP:0040161Localized osteoporosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0000939HP:0040161Localized osteoporosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM17921550613381
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H875236200Homocystinuria due to CBS deficiency236200C3150344OMIM18561550613381
HP:0000939HP:0040160Generalized osteoporosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0000939HP:0040160Generalized osteoporosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0000939HP:0040161Localized osteoporosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18712771603400
HP:0000939HP:0040161Localized osteoporosis1CCN6 CL E G H8838208230Progressive pseudorheumatoid dysplasia208230C0432215OMIM18612771603400
HP:0000939HP:0040161Localized osteoporosis1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0000939HP:0040161Localized osteoporosis1CDC73 CL E G H79577143ORPHA182816783607393
HP:0000939HP:0040161Localized osteoporosis1CDC73 CL E G H79577143ORPHA170416783607393
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H79577143ORPHA182816783607393
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H7957799880ORPHA170416783607393
HP:0000939HP:0040161Localized osteoporosis1CDC73 CL E G H7957799880ORPHA182816783607393
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H79577143ORPHA170416783607393
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H6407291347ORPHA1307513733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H6407296253ORPHA1307513733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H640722965ORPHA1307513733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H6407291347ORPHA1261213733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H6407296253ORPHA1261213733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H640722965ORPHA1261213733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H640722965ORPHA1307513733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H6407291347ORPHA1307513733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H6407296253ORPHA1307513733605516
HP:0000939HP:0040160Generalized osteoporosis1CDH23 CL E G H640722965ORPHA1261213733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H6407291347ORPHA1261213733605516
HP:0000939HP:0040161Localized osteoporosis1CDH23 CL E G H6407296253ORPHA1261213733605516
HP:0000939HP:0040161Localized osteoporosis1CHD7 CL E G H55636432ArbovirosisORPHA1198020626608892
HP:0000939HP:0040161Localized osteoporosis1CHD7 CL E G H55636432ArbovirosisORPHA1175220626608892
HP:0000939HP:0040160Generalized osteoporosis1CHD7 CL E G H55636432ArbovirosisORPHA1198020626608892
HP:0000939HP:0040160Generalized osteoporosis1CHD7 CL E G H55636432ArbovirosisORPHA1175220626608892
HP:0000939HP:0040160Generalized osteoporosis1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0000939HP:0040161Localized osteoporosis1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0000939HP:0040161Localized osteoporosis1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0000939HP:0040160Generalized osteoporosis1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0000939HP:0040161Localized osteoporosis1COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000939HP:0040161Localized osteoporosis1COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000939HP:0040160Generalized osteoporosis1COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000939HP:0040160Generalized osteoporosis1COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000939HP:0040160Generalized osteoporosis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0000939HP:0040161Localized osteoporosis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0000939HP:0040161Localized osteoporosis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0000939HP:0040160Generalized osteoporosis1CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0000939HP:0040161Localized osteoporosis1CTDP1 CL E G H915048431ORPHA13482498604927
HP:0000939HP:0040161Localized osteoporosis1CTDP1 CL E G H915048431ORPHA13232498604927
HP:0000939HP:0040160Generalized osteoporosis1CTDP1 CL E G H915048431ORPHA13482498604927
HP:0000939HP:0040160Generalized osteoporosis1CTDP1 CL E G H915048431ORPHA13232498604927
HP:0000939HP:0040160Generalized osteoporosis1CYB5A CL E G H152890796ORPHA11482570613218
HP:0000939HP:0040160Generalized osteoporosis1CYB5A CL E G H152890796ORPHA11452570613218
HP:0000939HP:0040161Localized osteoporosis1CYB5A CL E G H152890796ORPHA11482570613218
HP:0000939HP:0040161Localized osteoporosis1CYB5A CL E G H152890796ORPHA11452570613218
HP:0000939HP:0040160Generalized osteoporosis1CYP11A1 CL E G H1583289548ORPHA11142590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11A1 CL E G H1583168558ORPHA11142590118485
HP:0000939HP:0040160Generalized osteoporosis1CYP11A1 CL E G H1583168558ORPHA11202590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11A1 CL E G H1583289548ORPHA11202590118485
HP:0000939HP:0040160Generalized osteoporosis1CYP11A1 CL E G H1583168558ORPHA11142590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11A1 CL E G H1583289548ORPHA11142590118485
HP:0000939HP:0040160Generalized osteoporosis1CYP11A1 CL E G H1583289548ORPHA11202590118485
HP:0000939HP:0040161Localized osteoporosis1CYP11A1 CL E G H1583168558ORPHA11202590118485
HP:0000939HP:0040160Generalized osteoporosis1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0000939HP:0040160Generalized osteoporosis1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0000939HP:0040161Localized osteoporosis1CYP11B1 CL E G H158490795ORPHA14822591610613
HP:0000939HP:0040161Localized osteoporosis1CYP11B1 CL E G H158490795ORPHA14582591610613
HP:0000939HP:0040160Generalized osteoporosis1CYP17A1 CL E G H158690796ORPHA12572593609300
HP:0000939HP:0040160Generalized osteoporosis1CYP17A1 CL E G H158690793ORPHA12572593609300
HP:0000939HP:0040160Generalized osteoporosis1CYP17A1 CL E G H158690796ORPHA12322593609300
HP:0000939HP:0040160Generalized osteoporosis1CYP17A1 CL E G H158690793ORPHA12322593609300
HP:0000939HP:0040161Localized osteoporosis1CYP17A1 CL E G H158690796ORPHA12572593609300
HP:0000939HP:0040161Localized osteoporosis1CYP17A1 CL E G H158690793ORPHA12572593609300
HP:0000939HP:0040161Localized osteoporosis1CYP17A1 CL E G H158690796ORPHA12322593609300
HP:0000939HP:0040161Localized osteoporosis1CYP17A1 CL E G H158690793ORPHA12322593609300
HP:0000939HP:0040161Localized osteoporosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0000939HP:0040161Localized osteoporosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0000939HP:0040160Generalized osteoporosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0000939HP:0040160Generalized osteoporosis1CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0000939HP:0040160Generalized osteoporosis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0000939HP:0040160Generalized osteoporosis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0000939HP:0040161Localized osteoporosis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM15992605606530
HP:0000939HP:0040161Localized osteoporosis1CYP27A1 CL E G H1593213700Cholestanol storage disease213700C0238052OMIM14392605606530
HP:0000939HP:0040160Generalized osteoporosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000939HP:0040161Localized osteoporosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000939HP:0040161Localized osteoporosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM13962890300126
HP:0000939HP:0040160Generalized osteoporosis1DKC1 CL E G H1736305000Dyskeratosis congenita X-linked305000C1148551OMIM14262890300126
HP:0000939HP:0040160Generalized osteoporosis1DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0040161Localized osteoporosis1DKK1 CL E G H2294385193ORPHA1242891605189
HP:0000939HP:0040160Generalized osteoporosis1DMRT3 CL E G H58524251510ORPHA119613909614754
HP:0000939HP:0040161Localized osteoporosis1DMRT3 CL E G H58524251510ORPHA119813909614754
HP:0000939HP:0040161Localized osteoporosis1DMRT3 CL E G H58524251510ORPHA119613909614754
HP:0000939HP:0040160Generalized osteoporosis1DMRT3 CL E G H58524251510ORPHA119813909614754
HP:0000939HP:0040161Localized osteoporosis1DUSP6 CL E G H1848432ArbovirosisORPHA1463072602748
HP:0000939HP:0040161Localized osteoporosis1DUSP6 CL E G H1848432ArbovirosisORPHA1413072602748
HP:0000939HP:0040160Generalized osteoporosis1DUSP6 CL E G H1848432ArbovirosisORPHA1463072602748
HP:0000939HP:0040160Generalized osteoporosis1DUSP6 CL E G H1848432ArbovirosisORPHA1413072602748
HP:0000939HP:0040161Localized osteoporosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0000939HP:0040160Generalized osteoporosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0000939HP:0040160Generalized osteoporosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0000939HP:0040161Localized osteoporosis1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0000939HP:0040160Generalized osteoporosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0000939HP:0040160Generalized osteoporosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0000939HP:0040161Localized osteoporosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM12963255604032
HP:0000939HP:0040161Localized osteoporosis1EIF2AK3 CL E G H9451226980Wolcott-Rallison dysplasia226980C0432217OMIM11783255604032
HP:0000939HP:0040160Generalized osteoporosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0000939HP:0040160Generalized osteoporosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0000939HP:0040161Localized osteoporosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0000939HP:0040161Localized osteoporosis1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0000939HP:0040160Generalized osteoporosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000939HP:0040160Generalized osteoporosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000939HP:0040161Localized osteoporosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM19463438609413
HP:0000939HP:0040161Localized osteoporosis1ERCC6 CL E G H2074214150Cerebro-oculo-facio-skeletal syndrome214150C0220722OMIM18253438609413
HP:0000939HP:0040161Localized osteoporosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000939HP:0040161Localized osteoporosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000939HP:0040160Generalized osteoporosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM19463438609413
HP:0000939HP:0040160Generalized osteoporosis1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM18253438609413
HP:0000939HP:0040160Generalized osteoporosis1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11853467133430
HP:0000939HP:0040160Generalized osteoporosis1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11813467133430
HP:0000939HP:0040161Localized osteoporosis1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11853467133430
HP:0000939HP:0040161Localized osteoporosis1ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11813467133430
HP:0000939HP:0040161Localized osteoporosis1FGF17 CL E G H8822432ArbovirosisORPHA1953673603725
HP:0000939HP:0040161Localized osteoporosis1FGF17 CL E G H8822432ArbovirosisORPHA1933673603725
HP:0000939HP:0040160Generalized osteoporosis1FGF17 CL E G H8822432ArbovirosisORPHA1953673603725
HP:0000939HP:0040160Generalized osteoporosis1FGF17 CL E G H8822432ArbovirosisORPHA1933673603725
HP:0000939HP:0040161Localized osteoporosis1FGF8 CL E G H2253432ArbovirosisORPHA1693686600483
HP:0000939HP:0040161Localized osteoporosis1FGF8 CL E G H2253432ArbovirosisORPHA1663686600483
HP:0000939HP:0040160Generalized osteoporosis1FGF8 CL E G H2253432ArbovirosisORPHA1693686600483
HP:0000939HP:0040160Generalized osteoporosis1FGF8 CL E G H2253432ArbovirosisORPHA1663686600483
HP:0000939HP:0040161Localized osteoporosis1FGFR1 CL E G H2260432ArbovirosisORPHA15973688136350
HP:0000939HP:0040161Localized osteoporosis1FGFR1 CL E G H2260432ArbovirosisORPHA15303688136350
HP:0000939HP:0040160Generalized osteoporosis1FGFR1 CL E G H2260432ArbovirosisORPHA15973688136350
HP:0000939HP:0040160Generalized osteoporosis1FGFR1 CL E G H2260432ArbovirosisORPHA15303688136350
HP:0000939HP:0040160Generalized osteoporosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM119218169607063
HP:0000939HP:0040161Localized osteoporosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM124118169607063
HP:0000939HP:0040161Localized osteoporosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM119218169607063
HP:0000939HP:0040160Generalized osteoporosis1FKBP10 CL E G H60681259450Bruck syndrome 1259450C1850168OMIM124118169607063
HP:0000939HP:0040161Localized osteoporosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA119218169607063
HP:0000939HP:0040160Generalized osteoporosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA124118169607063
HP:0000939HP:0040160Generalized osteoporosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA119218169607063
HP:0000939HP:0040161Localized osteoporosis1FKBP10 CL E G H606812771Hydrocephalus costovertebral dysplasia Sprengel anomalyORPHA124118169607063
HP:0000939HP:0040161Localized osteoporosis1FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11703969136435
HP:0000939HP:0040161Localized osteoporosis1FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11653969136435
HP:0000939HP:0040160Generalized osteoporosis1FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11703969136435
HP:0000939HP:0040160Generalized osteoporosis1FSHR CL E G H2492233300Ovarian dysgenesis 1233300C0949595OMIM11653969136435
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-A253000C0086651OMIM18174122612222
HP:0000939HP:0040161Localized osteoporosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18774122612222
HP:0000939HP:0040161Localized osteoporosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18174122612222
HP:0000939HP:0040160Generalized osteoporosis1GALNS CL E G H2588253000Mucopolysaccharidosis, MPS-IV-A253000C0086651OMIM18774122612222
HP:0000939HP:0040161Localized osteoporosis1GALT CL E G H259279239ORPHA15644135606999
HP:0000939HP:0040161Localized osteoporosis1GALT CL E G H259279239ORPHA15194135606999
HP:0000939HP:0040160Generalized osteoporosis1GALT CL E G H259279239ORPHA15644135606999
HP:0000939HP:0040160Generalized osteoporosis1GALT CL E G H259279239ORPHA15194135606999
HP:0000939HP:0040160Generalized osteoporosis1GATA4 CL E G H2626251510ORPHA14644173600576
HP:0000939HP:0040161Localized osteoporosis1GATA4 CL E G H2626251510ORPHA15414173600576
HP:0000939HP:0040161Localized osteoporosis1GATA4 CL E G H2626251510ORPHA14644173600576
HP:0000939HP:0040160Generalized osteoporosis1GATA4 CL E G H2626251510ORPHA15414173600576
HP:0000939HP:0040160Generalized osteoporosis1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0000939HP:0040161Localized osteoporosis1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0000939HP:0040161Localized osteoporosis1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12204289300474
HP:0000939HP:0040160Generalized osteoporosis1GK CL E G H2710307030Deficiency of glycerol kinase307030C0268418OMIM12224289300474
HP:0000939HP:0040160Generalized osteoporosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15074298611458
HP:0000939HP:0040161Localized osteoporosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15964298611458
HP:0000939HP:0040161Localized osteoporosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15074298611458
HP:0000939HP:0040160Generalized osteoporosis1GLB1 CL E G H2720253010Mucopolysaccharidosis, MPS-IV-B253010C0086652OMIM15964298611458
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778189427ORPHA13334392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778189427ORPHA13714392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778189427ORPHA13334392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778189427ORPHA13714392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13714392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13334392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13714392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13334392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13714392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13334392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13714392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM13334392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13714392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13334392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13714392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM13334392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13714392139320
HP:0000939HP:0040160Generalized osteoporosis1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13334392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13714392139320
HP:0000939HP:0040161Localized osteoporosis1GNAS CL E G H2778612463Pseudopseudohypoparathyroidism612463C0033835OMIM13334392139320
HP:0000939HP:0040161Localized osteoporosis1GNRH1 CL E G H2796432ArbovirosisORPHA11124419152760
HP:0000939HP:0040161Localized osteoporosis1GNRH1 CL E G H2796432ArbovirosisORPHA11074419152760
HP:0000939HP:0040160Generalized osteoporosis1GNRH1 CL E G H2796432ArbovirosisORPHA11124419152760
HP:0000939HP:0040160Generalized osteoporosis1GNRH1 CL E G H2796432ArbovirosisORPHA11074419152760
HP:0000939HP:0040161Localized osteoporosis1GNRHR CL E G H2798432ArbovirosisORPHA11734421138850
HP:0000939HP:0040161Localized osteoporosis1GNRHR CL E G H2798432ArbovirosisORPHA11664421138850
HP:0000939HP:0040160Generalized osteoporosis1GNRHR CL E G H2798432ArbovirosisORPHA11734421138850
HP:0000939HP:0040160Generalized osteoporosis1GNRHR CL E G H2798432ArbovirosisORPHA11664421138850
HP:0000939HP:0040161Localized osteoporosis1GORAB CL E G H923442078ORPHA113025676607983
HP:0000939HP:0040160Generalized osteoporosis1GORAB CL E G H923442078ORPHA117425676607983
HP:0000939HP:0040160Generalized osteoporosis1GORAB CL E G H923442078ORPHA113025676607983
HP:0000939HP:0040161Localized osteoporosis1GORAB CL E G H923442078ORPHA117425676607983
HP:0000939HP:0040160Generalized osteoporosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0000939HP:0040160Generalized osteoporosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0000939HP:0040161Localized osteoporosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0000939HP:0040161Localized osteoporosis1GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0000939HP:0040161Localized osteoporosis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000939HP:0040161Localized osteoporosis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000939HP:0040160Generalized osteoporosis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000939HP:0040160Generalized osteoporosis1GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000939HP:0040160Generalized osteoporosis1HBB CL E G H3043231214ORPHA112704827141900
HP:0000939HP:0040161Localized osteoporosis1HBB CL E G H3043231214ORPHA112834827141900
HP:0000939HP:0040161Localized osteoporosis1HBB CL E G H3043231214ORPHA112704827141900
HP:0000939HP:0040160Generalized osteoporosis1HBB CL E G H3043231214ORPHA112834827141900
HP:0000939HP:0040161Localized osteoporosis1HBB CL E G H3043232Medullary sponge kidneyORPHA112834827141900
HP:0000939HP:0040161Localized osteoporosis1HBB CL E G H3043232Medullary sponge kidneyORPHA112704827141900
HP:0000939HP:0040160Generalized osteoporosis1HBB CL E G H3043232Medullary sponge kidneyORPHA112834827141900
HP:0000939HP:0040160Generalized osteoporosis1HBB CL E G H3043232Medullary sponge kidneyORPHA112704827141900
HP:0000939HP:0040160Generalized osteoporosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11494886613609
HP:0000939HP:0040161Localized osteoporosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11574886613609
HP:0000939HP:0040161Localized osteoporosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11494886613609
HP:0000939HP:0040160Generalized osteoporosis1HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM11574886613609
HP:0000939HP:0040160Generalized osteoporosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11655154601688
HP:0000939HP:0040161Localized osteoporosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11835154601688
HP:0000939HP:0040161Localized osteoporosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11655154601688
HP:0000939HP:0040160Generalized osteoporosis1HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11835154601688
HP:0000939HP:0040161Localized osteoporosis1HS6ST1 CL E G H9394432ArbovirosisORPHA1725201604846
HP:0000939HP:0040161Localized osteoporosis1HS6ST1 CL E G H9394432ArbovirosisORPHA1645201604846
HP:0000939HP:0040160Generalized osteoporosis1HS6ST1 CL E G H9394432ArbovirosisORPHA1725201604846
HP:0000939HP:0040160Generalized osteoporosis1HS6ST1 CL E G H9394432ArbovirosisORPHA1645201604846
HP:0000939HP:0040161Localized osteoporosis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0000939HP:0040161Localized osteoporosis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0000939HP:0040160Generalized osteoporosis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM16395213601860
HP:0000939HP:0040160Generalized osteoporosis1HSD17B4 CL E G H3295233400Perrault syndrome 1233400OMIM15605213601860
HP:0000939HP:0040160Generalized osteoporosis1HSD3B2 CL E G H328490791ORPHA11885218613890
HP:0000939HP:0040160Generalized osteoporosis1HSD3B2 CL E G H328490791ORPHA11725218613890
HP:0000939HP:0040161Localized osteoporosis1HSD3B2 CL E G H328490791ORPHA11885218613890
HP:0000939HP:0040161Localized osteoporosis1HSD3B2 CL E G H328490791ORPHA11725218613890
HP:0000939HP:0040160Generalized osteoporosis1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000939HP:0040160Generalized osteoporosis1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000939HP:0040161Localized osteoporosis1HSPG2 CL E G H3339800ORPHA116005273142461
HP:0000939HP:0040161Localized osteoporosis1HSPG2 CL E G H3339800ORPHA113275273142461
HP:0000939HP:0040160Generalized osteoporosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000939HP:0040161Localized osteoporosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000939HP:0040161Localized osteoporosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM113275273142461
HP:0000939HP:0040160Generalized osteoporosis1HSPG2 CL E G H3339255800Schwartz Jampel syndrome type 1255800C0036391OMIM116005273142461
HP:0000939HP:0040160Generalized osteoporosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0000939HP:0040160Generalized osteoporosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0000939HP:0040161Localized osteoporosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM171818873606951
HP:0000939HP:0040161Localized osteoporosis1IFIH1 CL E G H64135182250Singleton-Merten syndrome 1182250C4225427OMIM147618873606951
HP:0000939HP:0040161Localized osteoporosis1IFT122 CL E G H557641515ORPHA131713556606045
HP:0000939HP:0040160Generalized osteoporosis1IFT122 CL E G H557641515ORPHA139113556606045
HP:0000939HP:0040160Generalized osteoporosis1IFT122 CL E G H557641515ORPHA131713556606045
HP:0000939HP:0040161Localized osteoporosis1IFT122 CL E G H557641515ORPHA139113556606045
HP:0000939HP:0040160Generalized osteoporosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM139113556606045
HP:0000939HP:0040160Generalized osteoporosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM131713556606045
HP:0000939HP:0040161Localized osteoporosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM139113556606045
HP:0000939HP:0040161Localized osteoporosis1IFT122 CL E G H55764218330Cranioectodermal dysplasia 1218330C0432235OMIM131713556606045
HP:0000939HP:0040161Localized osteoporosis1IFT43 CL E G H1127521515ORPHA112929669614068
HP:0000939HP:0040160Generalized osteoporosis1IFT43 CL E G H1127521515ORPHA116229669614068
HP:0000939HP:0040160Generalized osteoporosis1IFT43 CL E G H1127521515ORPHA112929669614068
HP:0000939HP:0040161Localized osteoporosis1IFT43 CL E G H1127521515ORPHA116229669614068
HP:0000939HP:0040161Localized osteoporosis1IFT52 CL E G H510981515ORPHA15715901617094
HP:0000939HP:0040160Generalized osteoporosis1IFT52 CL E G H510981515ORPHA18215901617094
HP:0000939HP:0040160Generalized osteoporosis1IFT52 CL E G H510981515ORPHA15715901617094
HP:0000939HP:0040161Localized osteoporosis1IFT52 CL E G H510981515ORPHA18215901617094
HP:0000939HP:0040161Localized osteoporosis1IGF1 CL E G H347973272ORPHA11785464147440
HP:0000939