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

 Sister Nodes: 
..expandGeneralized bone demineralization (HP:0006462) help
..expandOsteomalacia (HP:0002749) help
..expandOsteopenia (HP:0000938) help
..expandPatchy reduction of bone mineral density (HP:0010657) help
..expandPatchy variation in bone mineral density (HP:0010659) help
..expandRickets (HP:0002748) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H1006060OMIM:239850Hypertrichotic osteochondrodysplasia.254
HP:0000939HP:0000939Osteoporosis0ABCC9 CL E G H1006060ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent254
HP:0000939HP:0000939Osteoporosis0ADAMTS2 CL E G H9509218ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent165
HP:0000939HP:0000939Osteoporosis0ADAMTSL2 CL E G H971914631ORPHA:1901Dermatosparaxis Ehlers-Danlos syndromeHP:0040281 - Very frequent72
HP:0000939HP:0000939Osteoporosis0ADCY10 CL E G H5581121285ORPHA:2197Idiopathic hypercalciuriaHP:0040283 - Occasional5
HP:0000939HP:0000939Osteoporosis0AEBP1 CL E G H165303OMIM:618000Ehlers-Danlos syndrome, classic-like, 2.
HP:0000939HP:0000939Osteoporosis0AIP CL E G H9049358OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.95
HP:0000939HP:0000939Osteoporosis0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0000939HP:0000939Osteoporosis0ALB CL E G H213399OMIM:616000Analbuminemia104
HP:0000939HP:0000939Osteoporosis0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H11842921732OMIM:228600Hyaline fibromatosis syndrome.49
HP:0000939HP:0000939Osteoporosis0ANTXR2 CL E G H11842921732ORPHA:2176Infantile systemic hyalinosisHP:0040281 - Very frequent49
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H7979825781OMIM:615954ACTH-independent macronodular adrenal hyperplasia 2.7
HP:0000939HP:0000939Osteoporosis0ARMC5 CL E G H7979825781ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent7
HP:0000939HP:0000939Osteoporosis0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040283 - Occasional78
HP:0000939HP:0000939Osteoporosis0ASXL1 CL E G H17102318318ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent145
HP:0000939HP:0000939Osteoporosis0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional145
HP:0000939HP:0000939Osteoporosis0ASXL2 CL E G H5525223805OMIM:617190Shashi-Pena syndromeHP:0040283 - Occasional7
HP:0000939HP:0000939Osteoporosis0ATP6V0A1 CL E G H535865OMIM:6199711
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538869ORPHA:565Menkes diseaseHP:0040283 - Occasional192
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538869OMIM:309400Menkes disease.192
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040282 - Frequent192
HP:0000939HP:0000939Osteoporosis0ATP7A CL E G H538869OMIM:304150Occipital horn syndrome.192
HP:0000939HP:0000939Osteoporosis0ATP7B CL E G H540870OMIM:277900Wilson disease.315
HP:0000939HP:0000939Osteoporosis0ATRX CL E G H546886ORPHA:96253Cushing diseaseHP:0040282 - Frequent169
HP:0000939HP:0000939Osteoporosis0B3GALT6 CL E G H12679217978ORPHA:536467B3GALT6-related spondylodysplastic Ehlers-Danlos syndromeHP:0040282 - Frequent38
HP:0000939HP:0000939Osteoporosis0B3GALT6 CL E G H12679217978OMIM:271640Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures.38
HP:0000939HP:0000939Osteoporosis0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000939HP:0000939Osteoporosis0BANF1 CL E G H881517397OMIM:614008Nestor-Guillermo progeria syndrome.22
HP:0000939HP:0000939Osteoporosis0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0BMP1 CL E G H6491067OMIM:614856Osteogenesis imperfecta, type XIIIHP:0040283 - Occasional49
HP:0000939HP:0000939Osteoporosis0BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0000939HP:0000939Osteoporosis0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0000939HP:0000939Osteoporosis0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0000939HP:0000939Osteoporosis0BRAF CL E G H6731097ORPHA:96253Cushing diseaseHP:0040282 - Frequent276
HP:0000939HP:0000939Osteoporosis0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0CALCR CL E G H7991440OMIM:166710OSTEOPOROSIS.1
HP:0000939HP:0000939Osteoporosis0CANT1 CL E G H12458319721OMIM:251450Desbuquois dysplasia 1.85
HP:0000939HP:0000939Osteoporosis0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0000939HP:0000939Osteoporosis0CBL CL E G H8671541ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent317
HP:0000939HP:0000939Osteoporosis0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040281 - Very frequent242
HP:0000939HP:0000939Osteoporosis0CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000939HP:0000939Osteoporosis0CCN6 CL E G H883812771OMIM:208230Arthropathy, progressive pseudorheumatoid, of childhood.
HP:0000939HP:0000939Osteoporosis0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhood
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidism169
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H7957716783ORPHA:99880Hyperparathyroidism-jaw tumor syndromeHP:0040282 - Frequent169
HP:0000939HP:0000939Osteoporosis0CDC73 CL E G H7957716783ORPHA:143Parathyroid carcinomaHP:0040282 - Frequent169
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407213733ORPHA:96253Cushing diseaseHP:0040282 - Frequent636
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0000939HP:0000939Osteoporosis0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000939HP:0000939Osteoporosis0CEACAM3 CL E G H10841815ORPHA:586Cystic fibrosis
HP:0000939HP:0000939Osteoporosis0CEACAM6 CL E G H46801818ORPHA:586Cystic fibrosis1
HP:0000939HP:0000939Osteoporosis0CFTR CL E G H10801884ORPHA:586Cystic fibrosis1371
HP:0000939HP:0000939Osteoporosis0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent515
HP:0000939HP:0000939Osteoporosis0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000939HP:0000939Osteoporosis0CLCA4 CL E G H228022018ORPHA:586Cystic fibrosis
HP:0000939HP:0000939Osteoporosis0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III373
HP:0000939HP:0000939Osteoporosis0COL1A1 CL E G H12772197OMIM:166710OSTEOPOROSIS.373
HP:0000939HP:0000939Osteoporosis0COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III243
HP:0000939HP:0000939Osteoporosis0COL1A2 CL E G H12782198OMIM:166710OSTEOPOROSIS.243
HP:0000939HP:0000939Osteoporosis0COL2A1 CL E G H12802200OMIM:608805Avascular necrosis of femoral head, primary, 1284
HP:0000939HP:0000939Osteoporosis0COL2A1 CL E G H12802200ORPHA:94068Spondyloepiphyseal dysplasia congenitaHP:0040282 - Frequent284
HP:0000939HP:0000939Osteoporosis0COL7A1 CL E G H12942214ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional263
HP:0000939HP:0000939Osteoporosis0CPLX1 CL E G H108152309ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0CTBP1 CL E G H14872494ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000939HP:0000939Osteoporosis0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0000939HP:0000939Osteoporosis0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0000939HP:0000939Osteoporosis0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040282 - Frequent17
HP:0000939HP:0000939Osteoporosis0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H15832590ORPHA:16855846,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000939HP:0000939Osteoporosis0CYP11A1 CL E G H15832590ORPHA:289548Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiencyHP:0040281 - Very frequent31
HP:0000939HP:0000939Osteoporosis0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000939HP:0000939Osteoporosis0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0000939HP:0000939Osteoporosis0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0000939HP:0000939Osteoporosis0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis.114
HP:0000939HP:0000939Osteoporosis0DCTN4 CL E G H5116415518ORPHA:586Cystic fibrosis
HP:0000939HP:0000939Osteoporosis0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000939HP:0000939Osteoporosis0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0000939HP:0000939Osteoporosis0DKC1 CL E G H17362890OMIM:305000Dyskeratosis congenita, X-linked.65
HP:0000939HP:0000939Osteoporosis0DKK1 CL E G H229432891ORPHA:85193Idiopathic juvenile osteoporosisHP:0040281 - Very frequent
HP:0000939HP:0000939Osteoporosis0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0000939HP:0000939Osteoporosis0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000939HP:0000939Osteoporosis0DUSP6 CL E G H18483072OMIM:615269Hypogonadotropic hypogonadism 19 with or without anosmiaHP:0040283 - Occasional4
HP:0000939HP:0000939Osteoporosis0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent4
HP:0000939HP:0000939Osteoporosis0EDNRA CL E G H19093179ORPHA:586Cystic fibrosis3
HP:0000939HP:0000939Osteoporosis0EIF2AK3 CL E G H94513255OMIM:226980Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus.65
HP:0000939HP:0000939Osteoporosis0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000939HP:0000939Osteoporosis0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1.199
HP:0000939HP:0000939Osteoporosis0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000939HP:0000939Osteoporosis0ESR1 CL E G H20993467ORPHA:785Estrogen resistance syndromeHP:0040281 - Very frequent13
HP:0000939HP:0000939Osteoporosis0ESR2 CL E G H21003468OMIM:618187Ovarian dysgenesis 8.
HP:0000939HP:0000939Osteoporosis0FAT4 CL E G H7963323109OMIM:616006HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2114
HP:0000939HP:0000939Osteoporosis0FGF17 CL E G H88223673OMIM:615270Hypogonadotropic hypogonadism 20 with or without anosmiaHP:0040283 - Occasional3
HP:0000939HP:0000939Osteoporosis0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent3
HP:0000939HP:0000939Osteoporosis0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent17
HP:0000939HP:0000939Osteoporosis0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent172
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H6068118169ORPHA:2771Bruck syndromeHP:0040281 - Very frequent61
HP:0000939HP:0000939Osteoporosis0FKBP10 CL E G H6068118169OMIM:259450Bruck syndrome 1.61
HP:0000939HP:0000939Osteoporosis0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0FLRT3 CL E G H237673762OMIM:615271Hypogonadotropic hypogonadism 21 with or without anosmiaHP:0040283 - Occasional4
HP:0000939HP:0000939Osteoporosis0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000939HP:0000939Osteoporosis0FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesis50
HP:0000939HP:0000939Osteoporosis0FSHR CL E G H24923969OMIM:233300Ovarian dysgenesis 1.50
HP:0000939HP:0000939Osteoporosis0G6PC1 CL E G H25384056OMIM:232200Glycogen storage disease ia.
HP:0000939HP:0000939Osteoporosis0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0000939HP:0000939Osteoporosis0GALT CL E G H25924135ORPHA:79239Classic galactosemiaHP:0040283 - Occasional351
HP:0000939HP:0000939Osteoporosis0GATA1 CL E G H26234170ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional29
HP:0000939HP:0000939Osteoporosis0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0000939HP:0000939Osteoporosis0GCLC CL E G H27294311ORPHA:586Cystic fibrosis2
HP:0000939HP:0000939Osteoporosis0GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidism51
HP:0000939HP:0000939Osteoporosis0GK CL E G H27104289OMIM:307030Glycerol kinase deficiency.13
HP:0000939HP:0000939Osteoporosis0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0000939HP:0000939Osteoporosis0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H27784392OMIM:219080ACTH-independent macronodular adrenal hyperplasia.101
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H27784392ORPHA:189427Cushing syndrome due to macronodular adrenal hyperplasiaHP:0040282 - Frequent101
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000939HP:0000939Osteoporosis0GNAS CL E G H27784392OMIM:612463PSEUDOPSEUDOHYPOPARATHYROIDISM.101
HP:0000939HP:0000939Osteoporosis0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent15
HP:0000939HP:0000939Osteoporosis0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent92
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H9234425676ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent52
HP:0000939HP:0000939Osteoporosis0GORAB CL E G H9234425676OMIM:231070Geroderma osteodysplasticum.52
HP:0000939HP:0000939Osteoporosis0GPAA1 CL E G H87334446ORPHA:529665Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndromeHP:0040282 - Frequent
HP:0000939HP:0000939Osteoporosis0GPR35 CL E G H28594492ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional2
HP:0000939HP:0000939Osteoporosis0GSTM3 CL E G H29474635ORPHA:586Cystic fibrosis1
HP:0000939HP:0000939Osteoporosis0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 2HP:0040283 - Occasional15
HP:0000939HP:0000939Osteoporosis0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040281 - Very frequent580
HP:0000939HP:0000939Osteoporosis0HBB CL E G H30434827ORPHA:231214Beta-thalassemia majorHP:0040282 - Frequent580
HP:0000939HP:0000939Osteoporosis0HBB CL E G H30434827ORPHA:231226Dominant beta-thalassemiaHP:0040283 - Occasional580
HP:0000939HP:0000939Osteoporosis0HBB CL E G H30434827ORPHA:232Sickle cell anemiaHP:0040282 - Frequent580
HP:0000939HP:0000939Osteoporosis0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000939HP:0000939Osteoporosis0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000939HP:0000939Osteoporosis0HFE CL E G H30774886ORPHA:586Cystic fibrosis38
HP:0000939HP:0000939Osteoporosis0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0000939HP:0000939Osteoporosis0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0000939HP:0000939Osteoporosis0HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2HP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000939HP:0000939Osteoporosis0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1.
HP:0000939HP:0000939Osteoporosis0HMOX1 CL E G H31625013ORPHA:586Cystic fibrosis3
HP:0000939HP:0000939Osteoporosis0HPGD CL E G H32485154OMIM:259100Hypertrophic osteoarthropathy, primary, autosomal recessive 1.55
HP:0000939HP:0000939Osteoporosis0HPGD CL E G H32485154ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional55
HP:0000939HP:0000939Osteoporosis0HS6ST1 CL E G H93945201OMIM:614880Hypogonadotropic hypogonadism 15 with or without anosmia8
HP:0000939HP:0000939Osteoporosis0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent8
HP:0000939HP:0000939Osteoporosis0HSD17B4 CL E G H32955213OMIM:233400Perrault syndrome 1.98
HP:0000939HP:0000939Osteoporosis0HSD3B7 CL E G H8027018324ORPHA:79301Congenital bile acid synthesis defect type 1HP:0040283 - Occasional26
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H33395273ORPHA:800Schwartz-Jampel syndromeHP:0040282 - Frequent345
HP:0000939HP:0000939Osteoporosis0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1.345
HP:0000939HP:0000939Osteoporosis0HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000939HP:0000939Osteoporosis0IFIH1 CL E G H6413518873OMIM:182250Singleton-Merten syndrome 1.28
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent93
HP:0000939HP:0000939Osteoporosis0IFT122 CL E G H5576413556OMIM:218330Cranioectodermal dysplasia.93
HP:0000939HP:0000939Osteoporosis0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent11
HP:0000939HP:0000939Osteoporosis0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent4
HP:0000939HP:0000939Osteoporosis0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0000939HP:0000939Osteoporosis0IL12A CL E G H35925969ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0IL12RB1 CL E G H35945971ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional46
HP:0000939HP:0000939Osteoporosis0IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmiaHP:0040283 - Occasional9
HP:0000939HP:0000939Osteoporosis0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000939HP:0000939Osteoporosis0IRF5 CL E G H36636120ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional4
HP:0000939HP:0000939Osteoporosis0KCNJ8 CL E G H37646269ORPHA:1517Hypertrichotic osteochondrodysplasia, Cantu typeHP:0040282 - Frequent23
HP:0000939HP:0000939Osteoporosis0KCNN4 CL E G H37836293ORPHA:586Cystic fibrosis3
HP:0000939HP:0000939Osteoporosis0KDELR2 CL E G H110146305OMIM:619131OSTEOGENESIS IMPERFECTA, TYPE XXI; OI21
HP:0000939HP:0000939Osteoporosis0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent3
HP:0000939HP:0000939Osteoporosis0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent14
HP:0000939HP:0000939Osteoporosis0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional327
HP:0000939HP:0000939Osteoporosis0LAMA3 CL E G H39096483ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional116
HP:0000939HP:0000939Osteoporosis0LAMB3 CL E G H39146490ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional167
HP:0000939HP:0000939Osteoporosis0LAMC2 CL E G H39186493ORPHA:79404Severe generalized junctional epidermolysis bullosaHP:0040283 - Occasional135
HP:0000939HP:0000939Osteoporosis0LARS2 CL E G H2339517095OMIM:615300Perrault syndrome 454
HP:0000939HP:0000939Osteoporosis0LETM1 CL E G H39546556ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional2
HP:0000939HP:0000939Osteoporosis0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H39776597ORPHA:3206Stüve-Wiedemann syndromeHP:0040282 - Frequent144
HP:0000939HP:0000939Osteoporosis0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0000939HP:0000939Osteoporosis0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000939HP:0000939Osteoporosis0LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome645
HP:0000939HP:0000939Osteoporosis0LMX1B CL E G H40106654ORPHA:2614Nail-patella syndromeHP:0040283 - Occasional165
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H40416697OMIM:166710OSTEOPOROSIS.125
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H40416697OMIM:259770Osteoporosis-Pseudoglioma syndrome.125
HP:0000939HP:0000939Osteoporosis0LRP5 CL E G H40416697ORPHA:2788Osteoporosis-pseudoglioma syndromeHP:0040281 - Very frequent125
HP:0000939HP:0000939Osteoporosis0LRP6 CL E G H40406698OMIM:610947Coronary artery disease, autosomal dominant 2.26
HP:0000939HP:0000939Osteoporosis0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000939HP:0000939Osteoporosis0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000939HP:0000939Osteoporosis0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional63
HP:0000939HP:0000939Osteoporosis0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional63
HP:0000939HP:0000939Osteoporosis0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional63
HP:0000939HP:0000939Osteoporosis0MALT1 CL E G H108926819OMIM:615468Immunodeficiency 12HP:0040283 - Occasional6
HP:0000939HP:0000939Osteoporosis0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000939HP:0000939Osteoporosis0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000939HP:0000939Osteoporosis0MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidism462
HP:0000939HP:0000939Osteoporosis0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0000939HP:0000939Osteoporosis0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0MIF CL E G H42827097ORPHA:586Cystic fibrosis1
HP:0000939HP:0000939Osteoporosis0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000939HP:0000939Osteoporosis0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000939HP:0000939Osteoporosis0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000939HP:0000939Osteoporosis0MMEL1 CL E G H7925814668ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0MMP1 CL E G H43127155ORPHA:79408Autosomal recessive generalized dystrophic epidermolysis bullosa, severe formHP:0040283 - Occasional6
HP:0000939HP:0000939Osteoporosis0MMP14 CL E G H43237160ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040281 - Very frequent2
HP:0000939HP:0000939Osteoporosis0MMP14 CL E G H43237160OMIM:277950Winchester syndrome2
HP:0000939HP:0000939Osteoporosis0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0000939HP:0000939Osteoporosis0MMP2 CL E G H43137166ORPHA:371428Multicentric osteolysis-nodulosis-arthropathy spectrumHP:0040281 - Very frequent64
HP:0000939HP:0000939Osteoporosis0MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesis25
HP:0000939HP:0000939Osteoporosis0MST1 CL E G H44857380ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0MTRR CL E G H45527473ORPHA:2169Methylcobalamin deficiency type cblEHP:0040283 - Occasional88
HP:0000939HP:0000939Osteoporosis0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000939HP:0000939Osteoporosis0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0NDUFAF1 CL E G H5110318828OMIM:618234Mitochondrial complex I deficiency, nuclear type 11.40
HP:0000939HP:0000939Osteoporosis0NELFA CL E G H746912768ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0NF1 CL E G H47637765ORPHA:9768517q11 microdeletion syndromeHP:0040283 - Occasional1952
HP:0000939HP:0000939Osteoporosis0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000939HP:0000939Osteoporosis0NGLY1 CL E G H5576817646OMIM:615273Congenital disorder of deglycosylation32
HP:0000939HP:0000939Osteoporosis0NHERF1 CL E G H936811075OMIM:612287Nephrolithiasis/osteoporosis, hypophosphatemic, 2.
HP:0000939HP:0000939Osteoporosis0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0000939HP:0000939Osteoporosis0NHP2 CL E G H5565114377OMIM:224230Dyskeratosis congenita, autosomal recessive 1.27
HP:0000939HP:0000939Osteoporosis0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0000939HP:0000939Osteoporosis0NOP10 CL E G H5550514378OMIM:224230Dyskeratosis congenita, autosomal recessive 1.17
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H48537882OMIM:102500Hajdu-Cheney syndrome.138
HP:0000939HP:0000939Osteoporosis0NOTCH2 CL E G H48537882ORPHA:955Hajdu-Cheney syndromeHP:0040281 - Very frequent138
HP:0000939HP:0000939Osteoporosis0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000939HP:0000939Osteoporosis0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0000939HP:0000939Osteoporosis0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000939HP:0000939Osteoporosis0NR3C1 CL E G H29087978ORPHA:96253Cushing diseaseHP:0040282 - Frequent79
HP:0000939HP:0000939Osteoporosis0NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesis38
HP:0000939HP:0000939Osteoporosis0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000939HP:0000939Osteoporosis0NSD2 CL E G H746812766ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional118
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0000939HP:0000939Osteoporosis0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent6
HP:0000939HP:0000939Osteoporosis0NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesis5
HP:0000939HP:0000939Osteoporosis0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional121
HP:0000939HP:0000939Osteoporosis0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional121
HP:0000939HP:0000939Osteoporosis0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional121
HP:0000939HP:0000939Osteoporosis0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0000939HP:0000939Osteoporosis0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0000939HP:0000939Osteoporosis0PCCA CL E G H50958653OMIM:606054Propionic acidemia.96
HP:0000939HP:0000939Osteoporosis0PCCB CL E G H50968654OMIM:606054Propionic acidemia.92
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H509408773OMIM:610475Pigmented nodular adrenocortical disease, primary, 2.13
HP:0000939HP:0000939Osteoporosis0PDE11A CL E G H509408773ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent13
HP:0000939HP:0000939Osteoporosis0PDE8B CL E G H86228794ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent75
HP:0000939HP:0000939Osteoporosis0PDLIM4 CL E G H857216501OMIM:166710OSTEOPOROSIS.1
HP:0000939HP:0000939Osteoporosis0PEX12 CL E G H51938854OMIM:266510Peroxisome biogenesis disorder 3B.65
HP:0000939HP:0000939Osteoporosis0PHKA2 CL E G H52568926ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare54
HP:0000939HP:0000939Osteoporosis0PHKB CL E G H52578927ORPHA:79240Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101
HP:0000939HP:0000939Osteoporosis0PHKG2 CL E G H52618931ORPHA:264580Glycogen storage disease due to liver phosphorylase kinase deficiencyHP:0040284 - Very rare48
HP:0000939HP:0000939Osteoporosis0PIGG CL E G H5487225985ORPHA:280Wolf-Hirschhorn syndromeHP:0040283 - Occasional7
HP:0000939HP:0000939Osteoporosis0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000939HP:0000939Osteoporosis0PLOD1 CL E G H53519081OMIM:225400Ehlers-Danlos syndrome, kyphoscoliotic type, 1.105
HP:0000939HP:0000939Osteoporosis0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040281 - Very frequent105
HP:0000939HP:0000939Osteoporosis0PLOD2 CL E G H53529082ORPHA:2771Bruck syndromeHP:0040281 - Very frequent45
HP:0000939HP:0000939Osteoporosis0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000939HP:0000939Osteoporosis0POF1B CL E G H7998313711OMIM:300604Premature ovarian failure 2B.31
HP:0000939HP:0000939Osteoporosis0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000939HP:0000939Osteoporosis0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare464
HP:0000939HP:0000939Osteoporosis0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare45
HP:0000939HP:0000939Osteoporosis0POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesis
HP:0000939HP:0000939Osteoporosis0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0000939HP:0000939Osteoporosis0POU2AF1 CL E G H54509211ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0PRDM5 CL E G H111079349ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent58
HP:0000939HP:0000939Osteoporosis0PRG4 CL E G H102169364ORPHA:2848Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome6
HP:0000939HP:0000939Osteoporosis0PRKACA CL E G H55669380OMIM:615830Pigmented nodular adrenocortical disease, primary, 4.2
HP:0000939HP:0000939Osteoporosis0PRKACA CL E G H55669380ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent2
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H55739388OMIM:610489Pigmented nodular adrenocortical disease, primary, 1.134
HP:0000939HP:0000939Osteoporosis0PRKAR1A CL E G H55739388ORPHA:189439Primary pigmented nodular adrenocortical diseaseHP:0040282 - Frequent134
HP:0000939HP:0000939Osteoporosis0PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemiaHP:0040283 - Occasional2
HP:0000939HP:0000939Osteoporosis0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmiaHP:0040283 - Occasional9
HP:0000939HP:0000939Osteoporosis0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent9
HP:0000939HP:0000939Osteoporosis0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent34
HP:0000939HP:0000939Osteoporosis0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0000939HP:0000939Osteoporosis0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0000939HP:0000939Osteoporosis0PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesis2
HP:0000939HP:0000939Osteoporosis0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000939HP:0000939Osteoporosis0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000939HP:0000939Osteoporosis0PYCR1 CL E G H58319721OMIM:614438Cutis laxa, autosomal recessive, type IIIB53
HP:0000939HP:0000939Osteoporosis0PYCR1 CL E G H58319721ORPHA:2078Geroderma osteodysplasticaHP:0040281 - Very frequent53
HP:0000939HP:0000939Osteoporosis0PYGL CL E G H58369725ORPHA:369Glycogen storage disease due to liver glycogen phosphorylase deficiencyHP:0040282 - Frequent71
HP:0000939HP:0000939Osteoporosis0RAB3GAP1 CL E G H2293017063OMIM:600118Warburg micro syndrome 1.90
HP:0000939HP:0000939Osteoporosis0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000939HP:0000939Osteoporosis0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0000939HP:0000939Osteoporosis0RNU4ATAC CL E G H10015168334016ORPHA:2636Microcephalic osteodysplastic primordial dwarfism types I and IIIHP:0040281 - Very frequent15
HP:0000939HP:0000939Osteoporosis0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0000939HP:0000939Osteoporosis0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000939HP:0000939Osteoporosis0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000939HP:0000939Osteoporosis0RPL11 CL E G H613510301OMIM:612562Diamond-Blackfan anemia 7.22
HP:0000939HP:0000939Osteoporosis0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare125
HP:0000939HP:0000939Osteoporosis0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0000939HP:0000939Osteoporosis0RUNX1 CL E G H86110471ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent181
HP:0000939HP:0000939Osteoporosis0RUNX2 CL E G H86010472ORPHA:1452Cleidocranial dysplasiaHP:0040282 - Frequent90
HP:0000939HP:0000939Osteoporosis0RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0000939HP:0000939Osteoporosis0SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000939HP:0000939Osteoporosis0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0000939HP:0000939Osteoporosis0SEMA4D CL E G H1050710732ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0SERPINA1 CL E G H52658941ORPHA:586Cystic fibrosis131
HP:0000939HP:0000939Osteoporosis0SGMS2 CL E G H16692928395OMIM:126550Calvarial doughnut lesions with bone fragility.
HP:0000939HP:0000939Osteoporosis0SH3PXD2B CL E G H28559029242OMIM:249420Frank-ter Haar syndrome.134
HP:0000939HP:0000939Osteoporosis0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040283 - Occasional40
HP:0000939HP:0000939Osteoporosis0SLC11A1 CL E G H655610907ORPHA:586Cystic fibrosis2
HP:0000939HP:0000939Osteoporosis0SLC25A19 CL E G H6038614409ORPHA:99742Amish lethal microcephalyHP:0040282 - Frequent36
HP:0000939HP:0000939Osteoporosis0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare68
HP:0000939HP:0000939Osteoporosis0SLC26A9 CL E G H11501914469ORPHA:586Cystic fibrosis5
HP:0000939HP:0000939Osteoporosis0SLC34A1 CL E G H656911019OMIM:612286Nephrolithiasis/osteoporosis, hypophosphatemic, 1.47
HP:0000939HP:0000939Osteoporosis0SLC37A4 CL E G H25424061OMIM:619525CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W110
HP:0000939HP:0000939Osteoporosis0SLC37A4 CL E G H25424061ORPHA:79259Glycogen storage disease due to glucose-6-phosphatase deficiency type IbHP:0040282 - Frequent110
HP:0000939HP:0000939Osteoporosis0SLC37A4 CL E G H25424061OMIM:232220Glycogen storage disease ib.110
HP:0000939HP:0000939Osteoporosis0SLC6A14 CL E G H1125411047ORPHA:586Cystic fibrosis
HP:0000939HP:0000939Osteoporosis0SLC7A7 CL E G H905611065ORPHA:470Lysinuric protein intoleranceHP:0040282 - Frequent104
HP:0000939HP:0000939Osteoporosis0SLC7A7 CL E G H905611065OMIM:222700Lysinuric protein intolerance.104
HP:0000939HP:0000939Osteoporosis0SLC9A3 CL E G H655011073ORPHA:586Cystic fibrosis7
HP:0000939HP:0000939Osteoporosis0SLCO2A1 CL E G H657810955ORPHA:2796PachydermoperiostosisHP:0040283 - Occasional13
HP:0000939HP:0000939Osteoporosis0SMAD3 CL E G H40886769ORPHA:284984Aneurysm-osteoarthritis syndromeHP:0040284 - Very rare260
HP:0000939HP:0000939Osteoporosis0SMPD1 CL E G H660911120ORPHA:77293Niemann-Pick disease type BHP:0040282 - Frequent164
HP:0000939HP:0000939Osteoporosis0SMPD1 CL E G H660911120OMIM:257200Niemann-Pick disease, type A.164
HP:0000939HP:0000939Osteoporosis0SMS CL E G H661111123OMIM:309583Mental retardation, X-linked, syndromic, Snyder-Robinson type.19
HP:0000939HP:0000939Osteoporosis0SMS CL E G H661111123ORPHA:3063X-linked intellectual disability, Snyder typeHP:0040282 - Frequent19
HP:0000939HP:0000939Osteoporosis0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000939HP:0000939Osteoporosis0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000939HP:0000939Osteoporosis0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040283 - Occasional37
HP:0000939HP:0000939Osteoporosis0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040283 - Occasional37
HP:0000939HP:0000939Osteoporosis0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040283 - Occasional37
HP:0000939HP:0000939Osteoporosis0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0000939HP:0000939Osteoporosis0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000939HP:0000939Osteoporosis0SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000939HP:0000939Osteoporosis0SPARC CL E G H667811219OMIM:616507Osteogenesis imperfecta, type XVII.2
HP:0000939HP:0000939Osteoporosis0SPIB CL E G H668911242ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesis2
HP:0000939HP:0000939Osteoporosis0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent5
HP:0000939HP:0000939Osteoporosis0SRC CL E G H671411283OMIM:616937Thrombocytopenia 6HP:0040283 - Occasional15
HP:0000939HP:0000939Osteoporosis0SRSF2 CL E G H642710783ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent1
HP:0000939HP:0000939Osteoporosis0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000939HP:0000939Osteoporosis0STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome89
HP:0000939HP:0000939Osteoporosis0STX1A CL E G H680411433ORPHA:586Cystic fibrosis
HP:0000939HP:0000939Osteoporosis0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent6
HP:0000939HP:0000939Osteoporosis0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent34
HP:0000939HP:0000939Osteoporosis0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040283 - Occasional13
HP:0000939HP:0000939Osteoporosis0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000939HP:0000939Osteoporosis0TCF4 CL E G H692511634ORPHA:171Primary sclerosing cholangitisHP:0040283 - Occasional241
HP:0000939HP:0000939Osteoporosis0TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000939HP:0000939Osteoporosis0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0000939HP:0000939Osteoporosis0TERC CL E G H701211727OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.48
HP:0000939HP:0000939Osteoporosis0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0000939HP:0000939Osteoporosis0TERT CL E G H701511730OMIM:613989Dyskeratosis congenita, autosomal dominant 2.238
HP:0000939HP:0000939Osteoporosis0TERT CL E G H701511730OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.238
HP:0000939HP:0000939Osteoporosis0TET2 CL E G H5479025941ORPHA:98850Aggressive systemic mastocytosisHP:0040282 - Frequent3
HP:0000939HP:0000939Osteoporosis0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040283 - Occasional3
HP:0000939HP:0000939Osteoporosis0TGFB1 CL E G H704011766ORPHA:586Cystic fibrosis13
HP:0000939HP:0000939Osteoporosis0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2HP:0040283 - Occasional253
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0000939HP:0000939Osteoporosis0TINF2 CL E G H2627711824OMIM:127550Dyskeratosis congenita, autosomal dominant, 1.60
HP:0000939HP:0000939Osteoporosis0TMEM165 CL E G H5585830760OMIM:614727Congenital disorder of glycosylation, type IIK.24
HP:0000939HP:0000939Osteoporosis0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0TNFRSF11A CL E G H879211908ORPHA:2801Juvenile Paget diseaseHP:0040281 - Very frequent72
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H498211909ORPHA:2801Juvenile Paget diseaseHP:0040281 - Very frequent44
HP:0000939HP:0000939Osteoporosis0TNFRSF11B CL E G H498211909OMIM:239000Paget disease of bone 5, juvenile-onset.44
HP:0000939HP:0000939Osteoporosis0TNFSF15 CL E G H996611931ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0TNPO3 CL E G H2353417103ORPHA:186Primary biliary cholangitisHP:0040283 - Occasional71
HP:0000939HP:0000939Osteoporosis0TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0000939HP:0000939Osteoporosis0TP53 CL E G H715711998ORPHA:96253Cushing diseaseHP:0040282 - Frequent911
HP:0000939HP:0000939Osteoporosis0TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tarda46
HP:0000939HP:0000939Osteoporosis0TRIP11 CL E G H932112305OMIM:184260Osteochondrodysplasia.133
HP:0000939HP:0000939Osteoporosis0TRMT10A CL E G H9358728403OMIM:616033Microcephaly, short stature, and impaired glucose metabolism 1HP:0040283 - Occasional7
HP:0000939HP:0000939Osteoporosis0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040284 - Very rare113
HP:0000939HP:0000939Osteoporosis0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0000939HP:0000939Osteoporosis0UROD CL E G H738912591ORPHA:95159Hepatoerythropoietic porphyriaHP:0040283 - Occasional31
HP:0000939HP:0000939Osteoporosis0UROS CL E G H739012592ORPHA:79277Congenital erythropoietic porphyriaHP:0040283 - Occasional41
HP:0000939HP:0000939Osteoporosis0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0000939HP:0000939Osteoporosis0USP48 CL E G H8419618533ORPHA:96253Cushing diseaseHP:0040282 - Frequent1
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H910112631ORPHA:96253Cushing diseaseHP:0040282 - Frequent7
HP:0000939HP:0000939Osteoporosis0USP8 CL E G H910112631OMIM:219090Pituitary adenoma 4, ACTH-secreting, somatic.7
HP:0000939HP:0000939Osteoporosis0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000939HP:0000939Osteoporosis0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000939HP:0000939Osteoporosis0VPS53 CL E G H5527525608OMIM:615851Pontocerebellar hypoplasia, type 2E26
HP:0000939HP:0000939Osteoporosis0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040282 - Frequent10
HP:0000939HP:0000939Osteoporosis0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent95
HP:0000939HP:0000939Osteoporosis0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040281 - Very frequent136
HP:0000939HP:0000939Osteoporosis0WNT1 CL E G H747112774ORPHA:85193Idiopathic juvenile osteoporosisHP:0040281 - Very frequent12
HP:0000939HP:0000939Osteoporosis0WNT3A CL E G H8978015983ORPHA:85193Idiopathic juvenile osteoporosisHP:0040281 - Very frequent
HP:0000939HP:0000939Osteoporosis0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0000939HP:0000939Osteoporosis0WRN CL E G H748612791OMIM:277700Werner syndrome.310
HP:0000939HP:0000939Osteoporosis0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0000939HP:0000939Osteoporosis0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000939HP:0000939Osteoporosis0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0000939HP:0000939Osteoporosis0XYLT2 CL E G H6413215517ORPHA:85194Spondylo-ocular syndromeHP:0040281 - Very frequent5
HP:0000939HP:0000939Osteoporosis0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0000939HP:0000939Osteoporosis0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0000939HP:0000939Osteoporosis0ZNF469 CL E G H8462723216ORPHA:90354Brittle cornea syndromeHP:0040282 - Frequent397
HP:0000939HP:0000939Osteoporosis0ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesis
HP:0000939HP:0040160Generalized osteoporosis1B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional5
HP:0000939HP:0040161Localized osteoporosis1BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesis16
HP:0000939HP:0040161Localized osteoporosis1BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesis
HP:0000939HP:0040160Generalized osteoporosis1CBS CL E G H8751550OMIM:236200Homocystinuria due to cystathionine beta-synthase deficiency.242
HP:0000939HP:0040160Generalized osteoporosis1CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040283 - Occasional
HP:0000939HP:0040160Generalized osteoporosis1CDC73 CL E G H7957716783ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent169
HP:0000939HP:0040160Generalized osteoporosis1CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defectsHP:0040283 - Occasional165
HP:0000939HP:0040160Generalized osteoporosis1COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III373
HP:0000939HP:0040160Generalized osteoporosis1COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III243
HP:0000939HP:0040160Generalized osteoporosis1COL2A1 CL E G H12802200OMIM:608805Avascular necrosis of femoral head, primary, 1HP:0040283 - Occasional284
HP:0000939HP:0040161Localized osteoporosis1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000939HP:0040161Localized osteoporosis1FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesis50
HP:0000939HP:0040160Generalized osteoporosis1GCM2 CL E G H92474198ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent51
HP:0000939HP:0040161Localized osteoporosis1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000939HP:0040161Localized osteoporosis1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000939HP:0040161Localized osteoporosis1HTRA1 CL E G H56549476ORPHA:199354Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy34
HP:0000939HP:0040161Localized osteoporosis1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000939HP:0040160Generalized osteoporosis1LMNA CL E G H40006636OMIM:176670Hutchinson-Gilford progeria syndrome.645
HP:0000939HP:0040160Generalized osteoporosis1MEN1 CL E G H42217010ORPHA:99879Familial isolated hyperparathyroidismHP:0040281 - Very frequent462
HP:0000939HP:0040160Generalized osteoporosis1MMP14 CL E G H43237160OMIM:277950Winchester syndrome.2
HP:0000939HP:0040161Localized osteoporosis1MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesis25
HP:0000939HP:0040161Localized osteoporosis1NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesis38
HP:0000939HP:0040161Localized osteoporosis1NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesis5
HP:0000939HP:0040161Localized osteoporosis1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0000939HP:0040161Localized osteoporosis1POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesis
HP:0000939HP:0040161Localized osteoporosis1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0000939HP:0040161Localized osteoporosis1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0000939HP:0040161Localized osteoporosis1PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0000939HP:0040161Localized osteoporosis1PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesis2
HP:0000939HP:0040161Localized osteoporosis1RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly90
HP:0000939HP:0040160Generalized osteoporosis1SATB2 CL E G H2331421637OMIM:612313Glass syndrome34
HP:0000939HP:0040161Localized osteoporosis1SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0000939HP:0040160Generalized osteoporosis1SP7 CL E G H12134017321OMIM:613849Osteogenesis imperfecta, type XII.34
HP:0000939HP:0040161Localized osteoporosis1SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesis2
HP:0000939HP:0040160Generalized osteoporosis1STAT1 CL E G H677211362ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent89
HP:0000939HP:0040160Generalized osteoporosis1TENT5A CL E G H5560318345OMIM:617952Osteogenesis imperfecta, type XVIII
HP:0000939HP:0040160Generalized osteoporosis1TOM1 CL E G H1004311982ORPHA:391487Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndromeHP:0040282 - Frequent
HP:0000939HP:0040161Localized osteoporosis1TRAPPC2 CL E G H639923068ORPHA:93284Spondyloepiphyseal dysplasia tardaHP:0040283 - Occasional46
HP:0000939HP:0040160Generalized osteoporosis1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome.17
HP:0000939HP:0040161Localized osteoporosis1ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesis
HP:0000939HP:0005653Moderate generalized osteoporosis2 CL E G H
HP:0000939HP:0005625Osteoporosis of vertebrae2BMP15 CL E G H92101068ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent16
HP:0000939HP:0005625Osteoporosis of vertebrae2BNC1 CL E G H6461081ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0000939HP:0005897Severe generalized osteoporosis2COL1A1 CL E G H12772197OMIM:259420Osteogenesis imperfecta, type III.373
HP:0000939HP:0005897Severe generalized osteoporosis2COL1A2 CL E G H12782198OMIM:259420Osteogenesis imperfecta, type III.243
HP:0000939HP:0005625Osteoporosis of vertebrae2FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional
HP:0000939HP:0005625Osteoporosis of vertebrae2FSHR CL E G H24923969ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent50
HP:0000939HP:0005625Osteoporosis of vertebrae2GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional173
HP:0000939HP:0005625Osteoporosis of vertebrae2HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional21
HP:0000939HP:0005625Osteoporosis of vertebrae2LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional43
HP:0000939HP:0005625Osteoporosis of vertebrae2MRPS22 CL E G H5694514508ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent25
HP:0000939HP:0005625Osteoporosis of vertebrae2NR5A1 CL E G H25167983ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent38
HP:0000939HP:0005625Osteoporosis of vertebrae2NUP107 CL E G H5712229914ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent5
HP:0000939HP:0005625Osteoporosis of vertebrae2OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional41
HP:0000939HP:0005625Osteoporosis of vertebrae2POLR3H CL E G H17156830349ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent
HP:0000939HP:0005625Osteoporosis of vertebrae2POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional36
HP:0000939HP:0005625Osteoporosis of vertebrae2PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040283 - Occasional54
HP:0000939HP:0005625Osteoporosis of vertebrae2PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional54
HP:0000939HP:0005625Osteoporosis of vertebrae2PSMC3IP CL E G H2989317928ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0000939HP:0005625Osteoporosis of vertebrae2RUNX2 CL E G H86010472OMIM:156510Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly.90
HP:0000939HP:0005625Osteoporosis of vertebrae2SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040283 - Occasional24
HP:0000939HP:0005625Osteoporosis of vertebrae2SPIDR CL E G H2351428971ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent2
HP:0000939HP:0005625Osteoporosis of vertebrae2ZSWIM7 CL E G H12515026993ORPHA:24346,XX gonadal dysgenesisHP:0040282 - Frequent


Genes (312) :ABCC9 ADAMTS2 ADAMTSL2 ADCY10 AEBP1 AIP ALB ANAPC1 ANTXR2 ARMC5 ASAH1 ASXL1 ASXL2 ATP6V0A1 ATP7A ATP7B ATRX B3GALT6 B3GAT3 BANF1 BAZ1B BCL7B BMP1 BMP15 BMP2 BMP6 BNC1 BRAF BUD23 CALCR CANT1 CAVIN1 CBL CBS CCN6 CDC73 CDH23 CEACAM3 CEACAM6 CFTR CHD7 CHST3 CLCA4 CLIP2 COL1A1 COL1A2 COL2A1 COL7A1 CPLX1 CTBP1 CTC1 CTDP1 CYB5A CYP11A1 CYP17A1 CYP19A1 CYP27A1 DCTN4 DHX37 DKC1 DKK1 DMRT3 DNAJC30 DPAGT1 DUSP6 EDNRA EIF2AK3 EIF4H ELN ERCC6 ESR1 ESR2 FAT4 FGF17 FGF8 FGFR1 FKBP10 FKBP6 FLRT3 FOXA2 FSHR G6PC1 GALNS GALT GATA1 GATA4 GCLC GCM2 GK GLB1 GLI2 GNAS GNRH1 GNRHR GORAB GPAA1 GPR35 GSTM3 GTF2I GTF2IRD1 GTF2IRD2 HAMP HBB HERC2 HESX1 HFE HJV HLA-DQA1 HLA-DQB1 HMOX1 HPGD HS6ST1 HSD17B4 HSD3B7 HSPG2 HTRA1 IFIH1 IFT122 IFT43 IFT52 IGF1 IL12A IL12RB1 IL17RD IPW IRF5 KCNJ8 KCNN4 KDELR2 KISS1 KISS1R KIT LAMA3 LAMB3 LAMC2 LARS2 LETM1 LHX4 LIFR LIMK1 LMNA LMX1B LRP5 LRP6 MAGEL2 MALT1 MAP3K1 MED12 MEN1 METTL27 MIF MKRN3 MKRN3-AS1 MLXIPL MMEL1 MMP1 MMP14 MMP2 MRPS22 MST1 MTRR NCF1 NDN NDUFAF1 NELFA NF1 NFIX NGLY1 NHERF1 NHP2 NOP10 NOTCH2 NPAP1 NPM1 NR0B1 NR3C1 NR5A1 NSD2 NSMF NUP107 OCA2 OTX2 PARN PCCA PCCB PDE11A PDE8B PDLIM4 PEX12 PHKA2 PHKB PHKG2 PIGG PIGT PLOD1 PLOD2 PMM2 POF1B POLD1 POLG POLG2 POLR3H POU1F1 POU2AF1 PRDM5 PRG4 PRKACA PRKAR1A PRLR PROK2 PROKR2 PROP1 PSMC3IP PWAR1 PWRN1 PYCR1 PYGL RAB3GAP1 RECQL4 RFC2 RIN2 RNU4ATAC RNU7-1 RPL10 RPL11 RRM2B RTEL1 RUNX1 RUNX2 SATB2 SC5D SEMA4D SERPINA1 SGMS2 SH3PXD2B SIM1 SLC11A1 SLC25A19 SLC25A4 SLC26A9 SLC34A1 SLC37A4 SLC6A14 SLC7A7 SLC9A3 SLCO2A1 SMAD3 SMPD1 SMS SNORD115-1 SNORD116-1 SNRPN SOX3 SOX9 SP7 SPARC SPIB SPIDR SPRY4 SRC SRSF2 SRY STAT1 STX1A TAC3 TACR3 TBCK TBL2 TCF12 TCF4 TENT5A TERC TERT TET2 TGFB1 TGFBR2 TINF2 TMEM165 TMEM270 TNFRSF11A TNFRSF11B TNFSF15 TNPO3 TOM1 TP53 TRAPPC2 TRIP11 TRMT10A TWNK TYMS UROD UROS USB1 USP48 USP8 VAMP7 VPS37D VPS53 WDR11 WDR19 WDR35 WNT1 WNT3A WRAP53 WRN WT1 WWOX XYLT2 ZBTB20 ZFPM2 ZNF469 ZSWIM7

Diseases (215) :OMIM:239850 ORPHA:1517 ORPHA:1901 ORPHA:2197 OMIM:618000 OMIM:219090 ORPHA:2965 OMIM:616000 OMIM:618625 OMIM:228600 ORPHA:2176 OMIM:615954 ORPHA:189427 ORPHA:333 ORPHA:98850 ORPHA:98849 OMIM:617190 OMIM:619971 ORPHA:565 OMIM:309400 ORPHA:198 OMIM:304150 OMIM:277900 ORPHA:96253 ORPHA:536467 OMIM:271640 OMIM:245600 OMIM:614008 ORPHA:904 OMIM:614856 ORPHA:243 OMIM:235200 ORPHA:465508 OMIM:166710 OMIM:251450 OMIM:613327 ORPHA:394 OMIM:236200 OMIM:208230 ORPHA:1159 ORPHA:99879 ORPHA:99880 ORPHA:143 ORPHA:91347 ORPHA:586 ORPHA:432 OMIM:259420 OMIM:608805 ORPHA:94068 ORPHA:79408 ORPHA:280 OMIM:612199 ORPHA:1775 ORPHA:48431 ORPHA:90796 ORPHA:168558 ORPHA:289548 ORPHA:91 ORPHA:909 OMIM:213700 ORPHA:251510 OMIM:305000 ORPHA:85193 ORPHA:86309 OMIM:615269 OMIM:226980 OMIM:194050 OMIM:214150 OMIM:133540 ORPHA:785 OMIM:618187 OMIM:616006 OMIM:615270 ORPHA:2771 OMIM:259450 OMIM:615271 ORPHA:95494 OMIM:233300 OMIM:232200 OMIM:253000 ORPHA:79239 ORPHA:79277 OMIM:307030 OMIM:253010 OMIM:219080 OMIM:103580 OMIM:612462 OMIM:612463 ORPHA:2078 OMIM:231070 ORPHA:529665 ORPHA:171 ORPHA:79230 ORPHA:231222 ORPHA:231214 ORPHA:231226 ORPHA:232 OMIM:176270 OMIM:212750 OMIM:259100 ORPHA:2796 OMIM:614880 OMIM:233400 ORPHA:79301 ORPHA:800 OMIM:255800 ORPHA:199354 OMIM:182250 ORPHA:1515 OMIM:218330 ORPHA:73272 ORPHA:186 OMIM:615267 OMIM:619131 ORPHA:79404 OMIM:615300 ORPHA:3206 OMIM:601559 ORPHA:79474 OMIM:176670 ORPHA:2614 OMIM:259770 ORPHA:2788 OMIM:610947 ORPHA:398069 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615468 OMIM:301068 ORPHA:371428 OMIM:277950 OMIM:259600 ORPHA:2169 OMIM:618234 ORPHA:97685 ORPHA:447980 OMIM:615273 OMIM:612287 OMIM:224230 OMIM:102500 ORPHA:955 OMIM:614838 OMIM:606054 OMIM:610475 ORPHA:189439 OMIM:266510 ORPHA:264580 ORPHA:79240 OMIM:615398 OMIM:225400 ORPHA:1900 ORPHA:79318 OMIM:300604 OMIM:615381 ORPHA:254892 ORPHA:90354 ORPHA:2848 OMIM:615830 OMIM:610489 ORPHA:397685 OMIM:610628 ORPHA:90695 OMIM:614438 ORPHA:369 OMIM:600118 OMIM:268400 OMIM:613075 ORPHA:2636 OMIM:619487 OMIM:300998 ORPHA:459070 OMIM:612562 ORPHA:1452 OMIM:156510 OMIM:612313 OMIM:607330 OMIM:126550 OMIM:249420 ORPHA:398079 ORPHA:99742 OMIM:612286 OMIM:619525 ORPHA:79259 OMIM:232220 ORPHA:470 OMIM:222700 ORPHA:284984 ORPHA:77293 OMIM:257200 OMIM:309583 ORPHA:3063 OMIM:613849 OMIM:616507 OMIM:616937 ORPHA:391487 ORPHA:488632 OMIM:619718 OMIM:617952 OMIM:127550 OMIM:613989 OMIM:610168 OMIM:613990 OMIM:614727 ORPHA:2801 OMIM:239000 ORPHA:93284 OMIM:184260 OMIM:616033 ORPHA:95159 OMIM:615851 OMIM:277700 ORPHA:902 ORPHA:85194 OMIM:259050
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.