Human Phenotype Ontology 
Grandparent Node:
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Abnormality of bone mineral density (HP:0004348)help
Parent Node:
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Reduced bone mineral density (HP:0004349)help
..Starting node
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Osteopenia (HP:0000938)help
Term ID: 938
Name: Osteopenia
Synonym: Generalised osteopenia; Generalized osteopenia; Osteopaenia
Definition: Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.
Comments:
Reference: HP:0000938
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandGeneralized bone demineralization (HP:0006462) help
..expandOsteomalacia (HP:0002749) help
..expandOsteoporosis (HP:0000939) 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:0000938HP:0000938Osteopenia0ADAMTS2 CL E G H95091901ORPHA11000218604539
HP:0000938HP:0000938Osteopenia0ADAMTS2 CL E G H95091901ORPHA1920218604539
HP:0000938HP:0000938Osteopenia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM11000218604539
HP:0000938HP:0000938Osteopenia0ADAMTS2 CL E G H9509225410Ehlers-Danlos syndrome, type vii, autosomal recessive225410C2700425OMIM1920218604539
HP:0000938HP:0000938Osteopenia0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124414631612277
HP:0000938HP:0000938Osteopenia0ADAMTSL2 CL E G H9719231050Geleophysic dysplasia 1231050C3278147OMIM124214631612277
HP:0000938HP:0000938Osteopenia0ADCY10 CL E G H558112197EsthesioneuroblastomaORPHA125021285605205
HP:0000938HP:0000938Osteopenia0ADCY10 CL E G H558112197EsthesioneuroblastomaORPHA122121285605205
HP:0000938HP:0000938Osteopenia0AIP CL E G H90492965ORPHA1395358605555
HP:0000938HP:0000938Osteopenia0AIP CL E G H90492965ORPHA1487358605555
HP:0000938HP:0000938Osteopenia0ANO5 CL E G H20385953697ORPHA190027337608662
HP:0000938HP:0000938Osteopenia0ANO5 CL E G H20385953697ORPHA178627337608662
HP:0000938HP:0000938Osteopenia0ANO5 CL E G H203859166260Gnathodiaphyseal dysplasia166260C1833736OMIM190027337608662
HP:0000938HP:0000938Osteopenia0ANO5 CL E G H203859166260Gnathodiaphyseal dysplasia166260C1833736OMIM178627337608662
HP:0000938HP:0000938Osteopenia0ANOS1 CL E G H3730432ArbovirosisORPHA14196211300836
HP:0000938HP:0000938Osteopenia0ANOS1 CL E G H3730432ArbovirosisORPHA13926211300836
HP:0000938HP:0000938Osteopenia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA124721732608041
HP:0000938HP:0000938Osteopenia0ANTXR2 CL E G H1184292176Epimetaphyseal skeletal dysplasiaORPHA125321732608041
HP:0000938HP:0000938Osteopenia0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM124721732608041
HP:0000938HP:0000938Osteopenia0ANTXR2 CL E G H118429228600Hyaline fibromatosis syndrome228600C2745948OMIM125321732608041
HP:0000938HP:0000938Osteopenia0ATP6V0A2 CL E G H235452834ORPHA145818481611716
HP:0000938HP:0000938Osteopenia0ATP6V0A2 CL E G H235452834ORPHA141718481611716
HP:0000938HP:0000938Osteopenia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM145818481611716
HP:0000938HP:0000938Osteopenia0ATP6V0A2 CL E G H23545278250Wrinkly skin syndrome278250C0406587OMIM141718481611716
HP:0000938HP:0000938Osteopenia0ATP7A CL E G H538198ORPHA11003869300011
HP:0000938HP:0000938Osteopenia0ATP7A CL E G H538198ORPHA1897869300011
HP:0000938HP:0000938Osteopenia0AVP CL E G H551125700Neurohypophyseal diabetes insipidus125700C0687720OMIM176894192340
HP:0000938HP:0000938Osteopenia0B3GALT6 CL E G H12679275496ORPHA128117978615291
HP:0000938HP:0000938Osteopenia0B3GALT6 CL E G H12679275496ORPHA133717978615291
HP:0000938HP:0000938Osteopenia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1126923606374
HP:0000938HP:0000938Osteopenia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM189923606374
HP:0000938HP:0000938Osteopenia0B4GALT7 CL E G H1128575496ORPHA1237930604327
HP:0000938HP:0000938Osteopenia0B4GALT7 CL E G H1128575496ORPHA1175930604327
HP:0000938HP:0000938Osteopenia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1237930604327
HP:0000938HP:0000938Osteopenia0B4GALT7 CL E G H11285130070Ehlers-Danlos syndrome progeroid type130070C1869122OMIM1175930604327
HP:0000938HP:0000938Osteopenia0BMP15 CL E G H921024346,XX gonadal dysgenesisC0685837ORPHA11961068300247
HP:0000938HP:0000938Osteopenia0BMP15 CL E G H921024346,XX gonadal dysgenesisC0685837ORPHA11931068300247
HP:0000938HP:0000938Osteopenia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16801097164757
HP:0000938HP:0000938Osteopenia0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM16181097164757
HP:0000938HP:0000938Osteopenia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11109688603198
HP:0000938HP:0000938Osteopenia0CAVIN1 CL E G H284119613327Lipodystrophy, congenital generalized, type 4613327C2750069OMIM11099688603198
HP:0000938HP:0000938Osteopenia0CCND1 CL E G H59529073ORPHA1171582168461
HP:0000938HP:0000938Osteopenia0CCND1 CL E G H59529073ORPHA1191582168461
HP:0000938HP:0000938Osteopenia0CDC73 CL E G H7957799879ORPHA182816783607393
HP:0000938HP:0000938Osteopenia0CDC73 CL E G H7957799879ORPHA170416783607393
HP:0000938HP:0000938Osteopenia0CDH23 CL E G H6407291347ORPHA1261213733605516
HP:0000938HP:0000938Osteopenia0CDH23 CL E G H640722965ORPHA1307513733605516
HP:0000938HP:0000938Osteopenia0CDH23 CL E G H640722965ORPHA1261213733605516
HP:0000938HP:0000938Osteopenia0CDH23 CL E G H6407291347ORPHA1307513733605516
HP:0000938HP:0000938Osteopenia0CHD7 CL E G H55636432ArbovirosisORPHA1198020626608892
HP:0000938HP:0000938Osteopenia0CHD7 CL E G H55636432ArbovirosisORPHA1175220626608892
HP:0000938HP:0000938Osteopenia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM12851971603799
HP:0000938HP:0000938Osteopenia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM13331971603799
HP:0000938HP:0000938Osteopenia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM12486545606973
HP:0000938HP:0000938Osteopenia0COG1 CL E G H9382611209COG1 congenital disorder of glycosylation611209C1970016OMIM11816545606973
HP:0000938HP:0000938Osteopenia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM116552197120150
HP:0000938HP:0000938Osteopenia0COL1A1 CL E G H1277130060Ehlers-Danlos syndrome, procollagen proteinase deficient130060C0268345OMIM113972197120150
HP:0000938HP:0000938Osteopenia0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM116552197120150
HP:0000938HP:0000938Osteopenia0COL1A1 CL E G H1277166200Osteogenesis imperfecta type I166200C0023931OMIM113972197120150
HP:0000938HP:0000938Osteopenia0COL7A1 CL E G H129479408ORPHA116582214120120
HP:0000938HP:0000938Osteopenia0COL7A1 CL E G H129479408ORPHA120282214120120
HP:0000938HP:0000938Osteopenia0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM15116232607976
HP:0000938HP:0000938Osteopenia0COX4I2 CL E G H84701612714Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis612714C2675184OMIM14616232607976
HP:0000938HP:0000938Osteopenia0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM14152379605497
HP:0000938HP:0000938Osteopenia0CRTAP CL E G H10491610682Osteogenesis imperfecta type 7610682C1853162OMIM13672379605497
HP:0000938HP:0000938Osteopenia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM191826169613129
HP:0000938HP:0000938Osteopenia0CTC1 CL E G H80169612199Cerebroretinal microangiopathy with calcifications and cysts 1612199C2677299OMIM172926169613129
HP:0000938HP:0000938Osteopenia0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12882594107910
HP:0000938HP:0000938Osteopenia0CYP19A1 CL E G H158891Malignant melanoma, childhoodORPHA12722594107910
HP:0000938HP:0000938Osteopenia0DCHS1 CL E G H8642601390601390601390OMIM150213681603057
HP:0000938HP:0000938Osteopenia0DCHS1 CL E G H8642601390601390601390OMIM134713681603057
HP:0000938HP:0000938Osteopenia0DDOST CL E G H1650300536ORPHA11792728602202
HP:0000938HP:0000938Osteopenia0DDOST CL E G H1650300536ORPHA11542728602202
HP:0000938HP:0000938Osteopenia0DNAJC21 CL E G H134218811Balo diseaseORPHA118727030617048
HP:0000938HP:0000938Osteopenia0DNAJC21 CL E G H134218811Balo diseaseORPHA19127030617048
HP:0000938HP:0000938Osteopenia0DUSP6 CL E G H1848432ArbovirosisORPHA1463072602748
HP:0000938HP:0000938Osteopenia0DUSP6 CL E G H1848432ArbovirosisORPHA1413072602748
HP:0000938HP:0000938Osteopenia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1803188605984
HP:0000938HP:0000938Osteopenia0EED CL E G H8726617561Cohen-Gibson syndrome617561C4479654OMIM1863188605984
HP:0000938HP:0000938Osteopenia0EFL1 CL E G H79631811Balo diseaseORPHA18825789617538
HP:0000938HP:0000938Osteopenia0EFL1 CL E G H79631811Balo diseaseORPHA119625789617538
HP:0000938HP:0000938Osteopenia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA11783255604032
HP:0000938HP:0000938Osteopenia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA12963255604032
HP:0000938HP:0000938Osteopenia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM17043327130160
HP:0000938HP:0000938Osteopenia0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM16573327130160
HP:0000938HP:0000938Osteopenia0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11813467133430
HP:0000938HP:0000938Osteopenia0ESR1 CL E G H2099785Arthrogryposis multiplex congenita CNS calcificationORPHA11853467133430
HP:0000938HP:0000938Osteopenia0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11853467133430
HP:0000938HP:0000938Osteopenia0ESR1 CL E G H2099615363Estrogen resistance615363C3809250OMIM11813467133430
HP:0000938HP:0000938Osteopenia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM198923109612411
HP:0000938HP:0000938Osteopenia0FAT4 CL E G H79633615546Van Maldergem syndrome 2615546C3809875OMIM151923109612411
HP:0000938HP:0000938Osteopenia0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM118383604612570
HP:0000938HP:0000938Osteopenia0FBN2 CL E G H2201121050Congenital contractural arachnodactyly121050C0220668OMIM119783604612570
HP:0000938HP:0000938Osteopenia0FGF17 CL E G H8822432ArbovirosisORPHA1953673603725
HP:0000938HP:0000938Osteopenia0FGF17 CL E G H8822432ArbovirosisORPHA1933673603725
HP:0000938HP:0000938Osteopenia0FGF8 CL E G H2253432ArbovirosisORPHA1693686600483
HP:0000938HP:0000938Osteopenia0FGF8 CL E G H2253432ArbovirosisORPHA1663686600483
HP:0000938HP:0000938Osteopenia0FGFR1 CL E G H2260432ArbovirosisORPHA15973688136350
HP:0000938HP:0000938Osteopenia0FGFR1 CL E G H2260432ArbovirosisORPHA15303688136350
HP:0000938HP:0000938Osteopenia0FGFR2 CL E G H2263313855ORPHA14663689176943
HP:0000938HP:0000938Osteopenia0FGFR2 CL E G H2263313855ORPHA15013689176943
HP:0000938HP:0000938Osteopenia0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM119218169607063
HP:0000938HP:0000938Osteopenia0FKBP10 CL E G H60681610968Osteogenesis imperfecta, type XI610968C3151218OMIM124118169607063
HP:0000938HP:0000938Osteopenia0FKBP14 CL E G H55033300179ORPHA111818625614505
HP:0000938HP:0000938Osteopenia0FKBP14 CL E G H55033300179ORPHA114418625614505
HP:0000938HP:0000938Osteopenia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM114418625614505
HP:0000938HP:0000938Osteopenia0FKBP14 CL E G H55033614557Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss614557C3281160OMIM111818625614505
HP:0000938HP:0000938Osteopenia0FSHR CL E G H249224346,XX gonadal dysgenesisC0685837ORPHA11703969136435
HP:0000938HP:0000938Osteopenia0FSHR CL E G H249224346,XX gonadal dysgenesisC0685837ORPHA11653969136435
HP:0000938HP:0000938Osteopenia0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1584019602589
HP:0000938HP:0000938Osteopenia0FUT8 CL E G H2530618005CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION618005CN248517OMIM1664019602589
HP:0000938HP:0000938Osteopenia0GATA1 CL E G H262379277ORPHA12834170305371
HP:0000938HP:0000938Osteopenia0GATA1 CL E G H262379277ORPHA13044170305371
HP:0000938HP:0000938Osteopenia0GBA CL E G H262977259ORPHA12614177606463
HP:0000938HP:0000938Osteopenia0GBA CL E G H262977259ORPHA12694177606463
HP:0000938HP:0000938Osteopenia0GCM2 CL E G H924799879ORPHA11434198603716
HP:0000938HP:0000938Osteopenia0GCM2 CL E G H924799879ORPHA11464198603716
HP:0000938HP:0000938Osteopenia0GLI2 CL E G H273695494ORPHA15184318165230
HP:0000938HP:0000938Osteopenia0GLI2 CL E G H273695494ORPHA14694318165230
HP:0000938HP:0000938Osteopenia0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13714392139320
HP:0000938HP:0000938Osteopenia0GNAS CL E G H2778219080Cushing's syndrome219080C1857451OMIM13334392139320
HP:0000938HP:0000938Osteopenia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM11934416602744
HP:0000938HP:0000938Osteopenia0GNPAT CL E G H8443222765Rhizomelic chondrodysplasia punctata type 2222765C1857242OMIM12414416602744
HP:0000938HP:0000938Osteopenia0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM173029670607840
HP:0000938HP:0000938Osteopenia0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM182829670607840
HP:0000938HP:0000938Osteopenia0GNRH1 CL E G H2796432ArbovirosisORPHA11124419152760
HP:0000938HP:0000938Osteopenia0GNRH1 CL E G H2796432ArbovirosisORPHA11074419152760
HP:0000938HP:0000938Osteopenia0GNRHR CL E G H2798432ArbovirosisORPHA11734421138850
HP:0000938HP:0000938Osteopenia0GNRHR CL E G H2798432ArbovirosisORPHA11664421138850
HP:0000938HP:0000938Osteopenia0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM113025676607983
HP:0000938HP:0000938Osteopenia0GORAB CL E G H92344231070Geroderma osteodysplastica231070C0432255OMIM117425676607983
HP:0000938HP:0000938Osteopenia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM12274446603048
HP:0000938HP:0000938Osteopenia0GPAA1 CL E G H8733617810GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15617810C4540520OMIM1954446603048
HP:0000938HP:0000938Osteopenia0HESX1 CL E G H882095494ORPHA1634877601802
HP:0000938HP:0000938Osteopenia0HESX1 CL E G H882095494ORPHA1744877601802
HP:0000938HP:0000938Osteopenia0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11655154601688
HP:0000938HP:0000938Osteopenia0HPGD CL E G H3248259100Pachydermoperiostosis syndrome259100C0029411OMIM11835154601688
HP:0000938HP:0000938Osteopenia0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14675173190020
HP:0000938HP:0000938Osteopenia0HRAS CL E G H3265163200Epidermal nevus syndrome163200C0265318OMIM14115173190020
HP:0000938HP:0000938Osteopenia0HS6ST1 CL E G H9394432ArbovirosisORPHA1725201604846
HP:0000938HP:0000938Osteopenia0HS6ST1 CL E G H9394432ArbovirosisORPHA1645201604846
HP:0000938HP:0000938Osteopenia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000938HP:0000938Osteopenia0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000938HP:0000938Osteopenia0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM117729685612801
HP:0000938HP:0000938Osteopenia0IARS2 CL E G H55699616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia616007C4014942OMIM124629685612801
HP:0000938HP:0000938Osteopenia0IFITM5 CL E G H387733610967Osteogenesis imperfecta type 5610967C1970414OMIM110616644614757
HP:0000938HP:0000938Osteopenia0IFITM5 CL E G H387733610967Osteogenesis imperfecta type 5610967C1970414OMIM18716644614757
HP:0000938HP:0000938Osteopenia0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11705464147440
HP:0000938HP:0000938Osteopenia0IGF1 CL E G H3479608747Insulin-like growth factor I deficiency608747C1837475OMIM11785464147440
HP:0000938HP:0000938Osteopenia0IRX5 CL E G H10265611174Hamamy syndrome611174C1970027OMIM14914361606195
HP:0000938HP:0000938Osteopenia0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11996255600359
HP:0000938HP:0000938Osteopenia0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM11896255600359
HP:0000938HP:0000938Osteopenia0KISS1 CL E G H3814432ArbovirosisORPHA1416341603286
HP:0000938HP:0000938Osteopenia0KISS1R CL E G H84634432ArbovirosisORPHA11134510604161
HP:0000938HP:0000938Osteopenia0KISS1R CL E G H84634432ArbovirosisORPHA11004510604161
HP:0000938HP:0000938Osteopenia0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM11134510604161
HP:0000938HP:0000938Osteopenia0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM11004510604161
HP:0000938HP:0000938Osteopenia0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13416407190070
HP:0000938HP:0000938Osteopenia0KRAS CL E G H3845163200Epidermal nevus syndrome163200C0265318OMIM13316407190070
HP:0000938HP:0000938Osteopenia0LHX4 CL E G H8988495494ORPHA113521734602146
HP:0000938HP:0000938Osteopenia0LHX4 CL E G H8988495494ORPHA113121734602146
HP:0000938HP:0000938Osteopenia0LIFR CL E G H39773206ORPHA16106597151443
HP:0000938HP:0000938Osteopenia0LIFR CL E G H39773206ORPHA15546597151443
HP:0000938HP:0000938Osteopenia0LMNA CL E G H40001662ORPHA113476636150330
HP:0000938HP:0000938Osteopenia0LMNA CL E G H40001662ORPHA114866636150330
HP:0000938HP:0000938Osteopenia0LRP5 CL E G H40412788ORPHA18616697603506
HP:0000938HP:0000938Osteopenia0LRP5 CL E G H40412788ORPHA111276697603506
HP:0000938HP:0000938Osteopenia0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM18616697603506
HP:0000938HP:0000938Osteopenia0LRP5 CL E G H4041601813Exudative vitreoretinopathy 4601813C1866176OMIM111276697603506
HP:0000938HP:0000938Osteopenia0MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM11126408608968
HP:0000938HP:0000938Osteopenia0MAFB CL E G H9935166300Multicentric osteolysis nephropathy166300C2674705OMIM11056408608968
HP:0000938HP:0000938Osteopenia0MBTPS2 CL E G H51360301014OSTEOGENESIS IMPERFECTA, TYPE XIX301014CN252653OMIM123115455300294
HP:0000938HP:0000938Osteopenia0MBTPS2 CL E G H51360301014OSTEOGENESIS IMPERFECTA, TYPE XIX301014CN252653OMIM124215455300294
HP:0000938HP:0000938Osteopenia0MEN1 CL E G H42212965ORPHA114117010613733
HP:0000938HP:0000938Osteopenia0MEN1 CL E G H422199879ORPHA115597010613733
HP:0000938HP:0000938Osteopenia0MEN1 CL E G H422199879ORPHA114117010613733
HP:0000938HP:0000938Osteopenia0MEN1 CL E G H42212965ORPHA115597010613733
HP:0000938HP:0000938Osteopenia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11157045602616
HP:0000938HP:0000938Osteopenia0MGAT2 CL E G H4247212066Carbohydrate-deficient glycoprotein syndrome type II212066C2931008OMIM11197045602616
HP:0000938HP:0000938Osteopenia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120012744605678
HP:0000938HP:0000938Osteopenia0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM120112744605678
HP:0000938HP:0000938Osteopenia0MMP1 CL E G H431279408ORPHA1657155120353
HP:0000938HP:0000938Osteopenia0MMP1 CL E G H431279408ORPHA1637155120353
HP:0000938HP:0000938Osteopenia0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM12367166120360
HP:0000938HP:0000938Osteopenia0MMP2 CL E G H4313259600Multicentric osteolysis, nodulosis and arthropathy259600C1850155OMIM11997166120360
HP:0000938HP:0000938Osteopenia0MRPS22 CL E G H5694524346,XX gonadal dysgenesisC0685837ORPHA113014508605810
HP:0000938HP:0000938Osteopenia0MRPS22 CL E G H5694524346,XX gonadal dysgenesisC0685837ORPHA111614508605810
HP:0000938HP:0000938Osteopenia0MTAP CL E G H4507112250Diaphyseal medullary stenosis with malignant fibrous histiocytoma112250C1862177OMIM12357413156540
HP:0000938HP:0000938Osteopenia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11577631104170
HP:0000938HP:0000938Osteopenia0NAGA CL E G H4668609241Schindler disease, type 1609241C1836544OMIM11697631104170
HP:0000938HP:0000938Osteopenia0NOTCH2 CL E G H4853955ORPHA16277882600275
HP:0000938HP:0000938Osteopenia0NOTCH2 CL E G H4853955ORPHA15267882600275
HP:0000938HP:0000938Osteopenia0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM16277882600275
HP:0000938HP:0000938Osteopenia0NOTCH2 CL E G H4853102500Hajdu-Cheney syndrome102500C0917715OMIM15267882600275
HP:0000938HP:0000938Osteopenia0NPR2 CL E G H4882615923Epiphyseal chondrodysplasia, miura type615923C4014690OMIM13447944108961
HP:0000938HP:0000938Osteopenia0NPR2 CL E G H4882615923Epiphyseal chondrodysplasia, miura type615923C4014690OMIM12857944108961
HP:0000938HP:0000938Osteopenia0NR5A1 CL E G H251624346,XX gonadal dysgenesisC0685837ORPHA11777983184757
HP:0000938HP:0000938Osteopenia0NR5A1 CL E G H251624346,XX gonadal dysgenesisC0685837ORPHA11617983184757
HP:0000938HP:0000938Osteopenia0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12267989164790
HP:0000938HP:0000938Osteopenia0NRAS CL E G H4893163200Epidermal nevus syndrome163200C0265318OMIM12127989164790
HP:0000938HP:0000938Osteopenia0NSMF CL E G H26012432ArbovirosisORPHA113729843608137
HP:0000938HP:0000938Osteopenia0NSMF CL E G H26012432ArbovirosisORPHA114029843608137
HP:0000938HP:0000938Osteopenia0NUP107 CL E G H5712224346,XX gonadal dysgenesisC0685837ORPHA113429914607617
HP:0000938HP:0000938Osteopenia0NUP107 CL E G H5712224346,XX gonadal dysgenesisC0685837ORPHA112829914607617
HP:0000938HP:0000938Osteopenia0OTX2 CL E G H501595494ORPHA11388522600037
HP:0000938HP:0000938Osteopenia0OTX2 CL E G H501595494ORPHA11628522600037
HP:0000938HP:0000938Osteopenia0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM135919316610339
HP:0000938HP:0000938Osteopenia0P3H1 CL E G H64175610915Osteogenesis imperfecta type 8610915C1970458OMIM143619316610339
HP:0000938HP:0000938Osteopenia0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM11288548176790
HP:0000938HP:0000938Osteopenia0P4HB CL E G H5034112240Cole-Carpenter syndrome 1112240C4317154OMIM1978548176790
HP:0000938HP:0000938Osteopenia0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11378773604961
HP:0000938HP:0000938Osteopenia0PDE11A CL E G H50940610475Pigmented nodular adrenocortical disease, primary, 2610475C1864851OMIM11458773604961
HP:0000938HP:0000938Osteopenia0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM13048804173410
HP:0000938HP:0000938Osteopenia0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM12838804173410
HP:0000938HP:0000938Osteopenia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM114214938610272
HP:0000938HP:0000938Osteopenia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM111814938610272
HP:0000938HP:0000938Osteopenia0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13428213610662
HP:0000938HP:0000938Osteopenia0PIGY CL E G H84992616809Hyperphosphatasia with mental retardation syndrome 6616809C4225201OMIM13028213610662
HP:0000938HP:0000938Osteopenia0PLEKHM1 CL E G H9842618107OSTEOPETROSIS, AUTOSOMAL DOMINANT 3618107CN253817OMIM14329017611466
HP:0000938HP:0000938Osteopenia0PLOD2 CL E G H5352609220Bruck syndrome 2609220C1836602OMIM12629082601865
HP:0000938HP:0000938Osteopenia0PLOD2 CL E G H5352609220Bruck syndrome 2609220C1836602OMIM12119082601865
HP:0000938HP:0000938Osteopenia0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM12259083603066
HP:0000938HP:0000938Osteopenia0PLOD3 CL E G H8985612394Bone fragility with contractures, arterial rupture, and deafness612394C2676285OMIM11239083603066
HP:0000938HP:0000938Osteopenia0PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12279091300131
HP:0000938HP:0000938Osteopenia0PLS3 CL E G H5358300910Bone mineral density quantitative trait locus 18300910C3806712OMIM12549091300131
HP:0000938HP:0000938Osteopenia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM15429115601785
HP:0000938HP:0000938Osteopenia0PMM2 CL E G H5373212065Carbohydrate-deficient glycoprotein syndrome type I212065C0349653OMIM14919115601785
HP:0000938HP:0000938Osteopenia0POU1F1 CL E G H544995494ORPHA1909210173110
HP:0000938HP:0000938Osteopenia0POU1F1 CL E G H544995494ORPHA1889210173110
HP:0000938HP:0000938Osteopenia0PRKACA CL E G H5566615830Pigmented nodular adrenocortical disease, primary, 4615830C4014425OMIM1329380601639
HP:0000938HP:0000938Osteopenia0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM17259388188830
HP:0000938HP:0000938Osteopenia0PRKAR1A CL E G H5573610489Pigmented nodular adrenocortical disease, primary, 1610489C1864846OMIM16239388188830
HP:0000938HP:0000938Osteopenia0PROK2 CL E G H60675432ArbovirosisORPHA15418455607002
HP:0000938HP:0000938Osteopenia0PROK2 CL E G H60675432ArbovirosisORPHA15018455607002
HP:0000938HP:0000938Osteopenia0PROKR2 CL E G H128674432ArbovirosisORPHA112015836607123
HP:0000938HP:0000938Osteopenia0PROKR2 CL E G H128674432ArbovirosisORPHA112715836607123
HP:0000938HP:0000938Osteopenia0PROP1 CL E G H562695494ORPHA11959455601538
HP:0000938HP:0000938Osteopenia0PROP1 CL E G H562695494ORPHA12059455601538
HP:0000938HP:0000938Osteopenia0PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM13909498176801
HP:0000938HP:0000938Osteopenia0PSAP CL E G H5660610539Gaucher disease, atypical, due to saposin C deficiency610539C1864651OMIM15029498176801
HP:0000938HP:0000938Osteopenia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11369545177046
HP:0000938HP:0000938Osteopenia0PSMB8 CL E G H5696256040Nakajo syndrome256040C1850568OMIM11219545177046
HP:0000938HP:0000938Osteopenia0PSMC3IP CL E G H2989324346,XX gonadal dysgenesisC0685837ORPHA13017928608665
HP:0000938HP:0000938Osteopenia0PSMC3IP CL E G H2989324346,XX gonadal dysgenesisC0685837ORPHA12917928608665
HP:0000938HP:0000938Osteopenia0PTH1R CL E G H5745156400Metaphyseal chondrodysplasia, Jansen type156400C0265295OMIM11669608168468
HP:0000938HP:0000938Osteopenia0PTH1R CL E G H5745156400Metaphyseal chondrodysplasia, Jansen type156400C0265295OMIM11359608168468
HP:0000938HP:0000938Osteopenia0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM11939721179035
HP:0000938HP:0000938Osteopenia0PYCR1 CL E G H5831612940Autosomal recessive cutis laxa type 2B612940C2751987OMIM11749721179035
HP:0000938HP:0000938Osteopenia0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM18021150610432
HP:0000938HP:0000938Osteopenia0RNF125 CL E G H54941616260Tenorio syndrome616260C4015710OMIM17621150610432
HP:0000938HP:0000938Osteopenia0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA120134016601428
HP:0000938HP:0000938Osteopenia0RNU4ATAC CL E G H1001516832636Hemihypertrophy intestinal web corneal opacityORPHA17634016601428
HP:0000938HP:0000938Osteopenia0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM18910301604175
HP:0000938HP:0000938Osteopenia0RPL11 CL E G H6135612562Diamond-Blackfan anemia 7612562C2675512OMIM18210301604175
HP:0000938HP:0000938Osteopenia0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM17029420616585
HP:0000938HP:0000938Osteopenia0RSPRY1 CL E G H89970616723Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type616723C4225232OMIM15729420616585
HP:0000938HP:0000938Osteopenia0SBDS CL E G H51119811Balo diseaseORPHA18919440607444
HP:0000938HP:0000938Osteopenia0SBDS CL E G H51119811Balo diseaseORPHA18219440607444
HP:0000938HP:0000938Osteopenia0SCARB2 CL E G H95077259ORPHA13761665602257
HP:0000938HP:0000938Osteopenia0SCARB2 CL E G H95077259ORPHA13281665602257
HP:0000938HP:0000938Osteopenia0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM117610706607186
HP:0000938HP:0000938Osteopenia0SEC24D CL E G H9871616294Cole-Carpenter syndrome 2616294C4225382OMIM124710706607186
HP:0000938HP:0000938Osteopenia0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM11391546600943
HP:0000938HP:0000938Osteopenia0SERPINH1 CL E G H871613848Osteogenesis imperfecta type 10613848C3151211OMIM11161546600943
HP:0000938HP:0000938Osteopenia0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM138529242613293
HP:0000938HP:0000938Osteopenia0SH3PXD2B CL E G H285590249420Frank Ter Haar syndrome249420C1855305OMIM134129242613293
HP:0000938HP:0000938Osteopenia0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM162910896164780
HP:0000938HP:0000938Osteopenia0SKI CL E G H6497182212Shprintzen-Goldberg syndrome182212C1321551OMIM168610896164780
HP:0000938HP:0000938Osteopenia0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM128110910600839
HP:0000938HP:0000938Osteopenia0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM132710910600839
HP:0000938HP:0000938Osteopenia0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM128510933604322
HP:0000938HP:0000938Osteopenia0SLC17A5 CL E G H26503269920Sialic acid storage disease, severe infantile type269920C1096902OMIM133510933604322
HP:0000938HP:0000938Osteopenia0SLC34A1 CL E G H6569613388Fanconi renotubular syndrome 2613388C3150652OMIM131111019182309
HP:0000938HP:0000938Osteopenia0SLC34A1 CL E G H6569613388Fanconi renotubular syndrome 2613388C3150652OMIM127511019182309
HP:0000938HP:0000938Osteopenia0SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM131111019182309
HP:0000938HP:0000938Osteopenia0SLC34A1 CL E G H6569612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1612286C2676786OMIM127511019182309
HP:0000938HP:0000938Osteopenia0SLC39A13 CL E G H91252157965ORPHA116720859608735
HP:0000938HP:0000938Osteopenia0SLC39A13 CL E G H91252157965ORPHA120020859608735
HP:0000938HP:0000938Osteopenia0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM120020859608735
HP:0000938HP:0000938Osteopenia0SLC39A13 CL E G H91252612350Spondylocheirodysplasia, Ehlers-Danlos syndrome-like612350C2676510OMIM116720859608735
HP:0000938HP:0000938Osteopenia0SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM15911075604990
HP:0000938HP:0000938Osteopenia0SLC9A3R1 CL E G H9368612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2612287C2676782OMIM15211075604990
HP:0000938HP:0000938Osteopenia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM149111102606622
HP:0000938HP:0000938Osteopenia0SMARCAL1 CL E G H50485242900Schimke immunoosseous dysplasia242900C0877024OMIM159211102606622
HP:0000938HP:0000938Osteopenia0SPIDR CL E G H2351424346,XX gonadal dysgenesisC0685837ORPHA16728971615384
HP:0000938HP:0000938Osteopenia0SPIDR CL E G H2351424346,XX gonadal dysgenesisC0685837ORPHA16628971615384
HP:0000938HP:0000938Osteopenia0SPRY4 CL E G H81848432ArbovirosisORPHA14115533607984
HP:0000938HP:0000938Osteopenia0SPRY4 CL E G H81848432ArbovirosisORPHA13815533607984
HP:0000938HP:0000938Osteopenia0SRP54 CL E G H6729811Balo diseaseORPHA17111301604857
HP:0000938HP:0000938Osteopenia0SRP54 CL E G H6729811Balo diseaseORPHA19711301604857
HP:0000938HP:0000938Osteopenia0STAT1 CL E G H6772391487ORPHA136811362600555
HP:0000938HP:0000938Osteopenia0STAT1 CL E G H6772391487ORPHA131411362600555
HP:0000938HP:0000938Osteopenia0STAT3 CL E G H67742314ORPHA139911364102582
HP:0000938HP:0000938Osteopenia0STAT3 CL E G H67742314ORPHA143911364102582
HP:0000938HP:0000938Osteopenia0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM143911364102582
HP:0000938HP:0000938Osteopenia0STAT3 CL E G H6774147060Hyperimmunoglobulin E syndrome147060C3489795OMIM139911364102582
HP:0000938HP:0000938Osteopenia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM14226200613128
HP:0000938HP:0000938Osteopenia0STN1 CL E G H79991617341Cerebroretinal microangiopathy with calcifications and cysts 2617341C4479220OMIM110526200613128
HP:0000938HP:0000938Osteopenia0TAC3 CL E G H6866432ArbovirosisORPHA12211521162330
HP:0000938HP:0000938Osteopenia0TACR3 CL E G H6870432ArbovirosisORPHA110711528162332
HP:0000938HP:0000938Osteopenia0TACR3 CL E G H6870432ArbovirosisORPHA110011528162332
HP:0000938HP:0000938Osteopenia0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM115626887612758
HP:0000938HP:0000938Osteopenia0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM119026887612758
HP:0000938HP:0000938Osteopenia0TMEM38B CL E G H55151615066Osteogenesis imperfecta, type xiv615066C3554428OMIM112225535611236
HP:0000938HP:0000938Osteopenia0TMEM38B CL E G H55151615066Osteogenesis imperfecta, type xiv615066C3554428OMIM19425535611236
HP:0000938HP:0000938Osteopenia0TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM156928396609884
HP:0000938HP:0000938Osteopenia0TMEM67 CL E G H91147602152RHYNS syndrome602152C1865794OMIM140228396609884
HP:0000938HP:0000938Osteopenia0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM133612340604386
HP:0000938HP:0000938Osteopenia0TRPS1 CL E G H7227190350Trichorhinophalangeal dysplasia type I190350C0432233OMIM127012340604386
HP:0000938HP:0000938Osteopenia0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM127012340604386
HP:0000938HP:0000938Osteopenia0TRPS1 CL E G H7227190351Trichorhinophalangeal syndrome type 3190351C1860823OMIM133612340604386
HP:0000938HP:0000938Osteopenia0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM126326582612636
HP:0000938HP:0000938Osteopenia0UNC80 CL E G H285175616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 2616801C4225203OMIM176526582612636
HP:0000938HP:0000938Osteopenia0UROS CL E G H739079277ORPHA115212592606938
HP:0000938HP:0000938Osteopenia0UROS CL E G H739079277ORPHA113812592606938
HP:0000938HP:0000938Osteopenia0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM115212592606938
HP:0000938HP:0000938Osteopenia0UROS CL E G H7390263700Congenital erythropoietic porphyria263700C0162530OMIM113812592606938
HP:0000938HP:0000938Osteopenia0WDR11 CL E G H55717432ArbovirosisORPHA128313831606417
HP:0000938HP:0000938Osteopenia0WDR11 CL E G H55717432ArbovirosisORPHA127413831606417
HP:0000938HP:0000938Osteopenia0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM18315517608125
HP:0000938HP:0000938Osteopenia0XYLT2 CL E G H64132605822Spondyloocular syndrome, autosomal recessive605822C1853925OMIM113015517608125
HP:0000938HP:0000938Osteopenia0ZMPSTE24 CL E G H102691662ORPHA116712877606480
HP:0000938HP:0000938Osteopenia0ZMPSTE24 CL E G H102691662ORPHA114912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000938HP:0000938Osteopenia0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0205325603100
HP:0000938HP:0000938Osteopenia0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA0203325603100
HP:0000938HP:0000938Osteopenia0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM03929722138250
HP:0000938HP:0000938Osteopenia0ALDH18A1 CL E G H5832616603Cutis laxa, autosomal dominant 3616603C4225268OMIM03469722138250
HP:0000938HP:0000938Osteopenia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0192961605681
HP:0000938HP:0000938Osteopenia0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0191961605681
HP:0000938HP:0000938Osteopenia0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA037315832606158
HP:0000938HP:0000938Osteopenia0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA033015832606158
HP:0000938HP:0000938Osteopenia0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0851527601047
HP:0000938HP:0000938Osteopenia0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA0811527601047
HP:0000938HP:0000938Osteopenia0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01109688603198
HP:0000938HP:0000938Osteopenia0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA01099688603198
HP:0000938HP:0000938Osteopenia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA01762586603432
HP:0000938HP:0000938Osteopenia0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA01772586603432
HP:0000938HP:0000938Osteopenia0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM03914312604594
HP:0000938HP:0000938Osteopenia0CRIPT CL E G H9419615789Short stature with microcephaly and distinctive facies615789C4014339OMIM03814312604594
HP:0000938HP:0000938Osteopenia0DUSP6 CL E G H1848615269Hypogonadotropic hypogonadism 19 with or without anosmia615269C3808981OMIM0463072602748
HP:0000938HP:0000938Osteopenia0DUSP6 CL E G H1848615269Hypogonadotropic hypogonadism 19 with or without anosmia615269C3808981OMIM0413072602748
HP:0000938HP:0000938Osteopenia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA07043327130160
HP:0000938HP:0000938Osteopenia0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA06573327130160
HP:0000938HP:0000938Osteopenia0FBN1 CL E G H22002462ORPHA054573603134797
HP:0000938HP:0000938Osteopenia0FBN1 CL E G H22002462ORPHA049683603134797
HP:0000938HP:0000938Osteopenia0FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM0953673603725
HP:0000938HP:0000938Osteopenia0FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM0933673603725
HP:0000938HP:0000938Osteopenia0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM05973688136350
HP:0000938HP:0000938Osteopenia0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM05303688136350
HP:0000938HP:0000938Osteopenia0FLRT3 CL E G H23767615271Hypogonadotropic hypogonadism 21 with or without anosmia615271C3808986OMIM0523762604808
HP:0000938HP:0000938Osteopenia0FLRT3 CL E G H23767615271Hypogonadotropic hypogonadism 21 with or without anosmia615271C3808986OMIM0483762604808
HP:0000938HP:0000938Osteopenia0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA0293796164810
HP:0000938HP:0000938Osteopenia0GCM2 CL E G H9247617343Hyperparathyroidism 4617343C4479229OMIM01464198603716
HP:0000938HP:0000938Osteopenia0GCM2 CL E G H9247617343Hyperparathyroidism 4617343C4479229OMIM01434198603716
HP:0000938HP:0000938Osteopenia0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM054628510610192
HP:0000938HP:0000938Osteopenia0GLIS3 CL E G H169792610199Diabetes mellitus, neonatal, with congenital hypothyroidism610199C1857775OMIM052328510610192
HP:0000938HP:0000938Osteopenia0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01224492602646
HP:0000938HP:0000938Osteopenia0GPR35 CL E G H2859171Le Marec Bracq Picaud syndromeORPHA01154492602646
HP:0000938HP:0000938Osteopenia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01594659601679
HP:0000938HP:0000938Osteopenia0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01604659601679
HP:0000938HP:0000938Osteopenia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02134661604318
HP:0000938HP:0000938Osteopenia0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02114661604318
HP:0000938HP:0000938Osteopenia0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM020329853617245
HP:0000938HP:0000938Osteopenia0HECW2 CL E G H57520617268Neurodevelopmental disorder with hypotonia, seizures, and absent language617268C4310643OMIM019929853617245
HP:0000938HP:0000938Osteopenia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM06224868605837
HP:0000938HP:0000938Osteopenia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM06024868605837
HP:0000938HP:0000938Osteopenia0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM011818550609382
HP:0000938HP:0000938Osteopenia0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM010918550609382
HP:0000938HP:0000938Osteopenia0IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM010617616606807
HP:0000938HP:0000938Osteopenia0IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM09617616606807
HP:0000938HP:0000938Osteopenia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03186109601491
HP:0000938HP:0000938Osteopenia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM03176109601491
HP:0000938HP:0000938Osteopenia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA01966613601329
HP:0000938HP:0000938Osteopenia0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA01976613601329
HP:0000938HP:0000938Osteopenia0LMNA CL E G H4000740Aortic arch interruptionORPHA013476636150330
HP:0000938HP:0000938Osteopenia0LMNA CL E G H4000740Aortic arch interruptionORPHA014866636150330
HP:0000938HP:0000938Osteopenia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM05806814605283
HP:0000938HP:0000938Osteopenia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM05576814605283
HP:0000938HP:0000938Osteopenia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM03447114603856
HP:0000938HP:0000938Osteopenia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM03417114603856
HP:0000938HP:0000938Osteopenia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM012910603857
HP:0000938HP:0000938Osteopenia0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0177380142408
HP:0000938HP:0000938Osteopenia0MST1 CL E G H4485171Le Marec Bracq Picaud syndromeORPHA0167380142408
HP:0000938HP:0000938Osteopenia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM03267675602117
HP:0000938HP:0000938Osteopenia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM03217675602117
HP:0000938HP:0000938Osteopenia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03491190610922
HP:0000938HP:0000938Osteopenia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM03511190610922
HP:0000938HP:0000938Osteopenia0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA02818923606879
HP:0000938HP:0000938Osteopenia0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA04078923606879
HP:0000938HP:0000938Osteopenia0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01249236601487
HP:0000938HP:0000938Osteopenia0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA01089236601487
HP:0000938HP:0000938Osteopenia0PRLR CL E G H5618397685ORPHA0359446176761
HP:0000938HP:0000938Osteopenia0PRLR CL E G H5618397685ORPHA0369446176761
HP:0000938HP:0000938Osteopenia0PROP1 CL E G H562690695ORPHA01959455601538
HP:0000938HP:0000938Osteopenia0PROP1 CL E G H562690695ORPHA02059455601538
HP:0000938HP:0000938Osteopenia0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA039919129610936
HP:0000938HP:0000938Osteopenia0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA035619129610936
HP:0000938HP:0000938Osteopenia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031930089600161
HP:0000938HP:0000938Osteopenia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM031730089600161
HP:0000938HP:0000938Osteopenia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032833235611215
HP:0000938HP:0000938Osteopenia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM032933235611215
HP:0000938HP:0000938Osteopenia0RECQL4 CL E G H9401221016ORPHA032749949603780
HP:0000938HP:0000938Osteopenia0RECQL4 CL E G H9401221016ORPHA027519949603780
HP:0000938HP:0000938Osteopenia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA01759970600404
HP:0000938HP:0000938Osteopenia0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA01749970600404
HP:0000938HP:0000938Osteopenia0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM013710701610511
HP:0000938HP:0000938Osteopenia0SEC23A CL E G H10484607812Craniolenticulosutural dysplasia607812C1843042OMIM012610701610511
HP:0000938HP:0000938Osteopenia0SKI CL E G H64972462ORPHA062910896164780
HP:0000938HP:0000938Osteopenia0SKI CL E G H64972462ORPHA068610896164780
HP:0000938HP:0000938Osteopenia0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM09320862608732
HP:0000938HP:0000938Osteopenia0SLC39A8 CL E G H64116616721CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn616721C4225234OMIM09920862608732
HP:0000938HP:0000938Osteopenia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM032133020609837
HP:0000938HP:0000938Osteopenia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM031933020609837
HP:0000938HP:0000938Osteopenia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM032033067605436
HP:0000938HP:0000938Osteopenia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM032133067605436
HP:0000938HP:0000938Osteopenia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM039811164182279
HP:0000938HP:0000938Osteopenia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM039711164182279
HP:0000938HP:0000938Osteopenia0SOX3 CL E G H665890695ORPHA023011199313430
HP:0000938HP:0000938Osteopenia0SOX3 CL E G H665890695ORPHA022511199313430
HP:0000938HP:0000938Osteopenia0STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM036811362600555
HP:0000938HP:0000938Osteopenia0STAT1 CL E G H6772614162Immunodeficiency 31C614162C3279990OMIM031411362600555
HP:0000938HP:0000938Osteopenia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM032111535313650
HP:0000938HP:0000938Osteopenia0TAF1 CL E G H6872300966Mental retardation, X-linked, syndromic 33300966C4225418OMIM030211535313650
HP:0000938HP:0000938Osteopenia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016111586605842
HP:0000938HP:0000938Osteopenia0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA016211586605842
HP:0000938HP:0000938Osteopenia0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA081211634602272
HP:0000938HP:0000938Osteopenia0TCF4 CL E G H6925171Le Marec Bracq Picaud syndromeORPHA075611634602272
HP:0000938HP:0000938Osteopenia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA016712877606480
HP:0000938HP:0000938Osteopenia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA014912877606480


Genes (190) :ADAMTS2 ADAMTSL2 ADCY10 AGPAT2 AIP ALDH18A1 ANO5 ANOS1 ANTXR2 ATP6V0A2 ATP7A AVP B3GALT6 B3GAT3 B4GALT7 BAZ1B BMP15 BRAF BSCL2 CAV1 CAVIN1 CCND1 CDC73 CDH23 CHD7 CHST3 CLIP2 COG1 COL1A1 COL7A1 COX4I2 CRIPT CRTAP CTC1 CYP19A1 DCHS1 DDOST DNAJC21 DUSP6 EED EFL1 EIF2AK3 ELN ESR1 FAT4 FBN1 FBN2 FGF17 FGF8 FGFR1 FGFR2 FKBP10 FKBP14 FLRT3 FOS FSHR FUT8 GATA1 GBA GCM2 GLI2 GLIS3 GNAS GNPAT GNPTAB GNRH1 GNRHR GORAB GPAA1 GPR35 GTF2I GTF2IRD1 HECW2 HERC2 HESX1 HPGD HRAS HS6ST1 HSD17B4 IARS2 IER3IP1 IFITM5 IGF1 IL17RD IPW IRX5 KCNJ1 KISS1 KISS1R KRAS LHX4 LIFR LIMK1 LMNA LRP5 MAFB MAGEL2 MBTPS2 MEN1 MGAT2 MKRN3 MKRN3-AS1 MLXIPL MMP1 MMP2 MRPS22 MST1 MTAP NAGA NDN NOTCH2 NPAP1 NPR2 NR5A1 NRAS NSMF NUP107 OTX2 P3H1 P4HB PDE11A PDGFRB PHGDH PIGT PIGY PLEKHM1 PLOD2 PLOD3 PLS3 PMM2 POU1F1 PPARG PRKACA PRKAR1A PRLR PROK2 PROKR2 PROP1 PSAP PSAT1 PSMB8 PSMC3IP PTH1R PWAR1 PWRN1 PYCR1 RECQL4 RFC2 RNF125 RNU4ATAC RPL11 RSPRY1 SBDS SCARB2 SEC23A SEC24D SERPINH1 SH3PXD2B SKI SLC12A1 SLC17A5 SLC34A1 SLC39A13 SLC39A8 SLC9A3R1 SMARCAL1 SNORD115-1 SNORD116-1 SNRPN SOX3 SPIDR SPRY4 SRP54 STAT1 STAT3 STN1 TAC3 TACR3 TAF1 TAPT1 TBL2 TCF4 TMEM38B TMEM67 TRPS1 UNC80 UROS WDR11 XYLT2 ZMPSTE24

Diseases (146) :1901 225410 231050 2197 528 2965 616603 53697 166260 432 2176 228600 2834 278250 198 125700 75496 245600 130070 904 243 115150 613327 29073 99879 91347 611209 130060 166200 79408 612714 615789 610682 612199 91 601390 300536 811 615269 617561 1667 194050 785 615363 615546 2462 121050 615270 147950 313855 610968 300179 614557 615271 618005 79277 77259 617343 95494 610199 219080 222765 252500 231070 617810 171 617268 176270 259100 163200 261515 616007 614231 610967 608747 615267 611174 241200 614837 3206 1662 740 2788 601813 166300 301014 212066 259600 112250 609241 955 102500 615923 610915 112240 610475 601812 2671 615398 616809 618107 609220 612394 300910 212065 615830 610489 397685 90695 610539 256040 156400 612940 221016 616260 2636 612562 616723 607812 616294 613848 249420 182212 601678 269920 613388 612286 157965 612350 616721 612287 242900 391487 614162 2314 147060 617341 300966 616897 615066 602152 190350 190351 616801 263700 605822
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.