Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

aldo-keto reductase family 1, member A1 (aldehyde reductase)
2610201A18Rik,  Akr1a4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Akr1a1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Akr1a1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal enzyme/coenzyme activity OMIM:125460
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Mazabraud Syndrome
Recurrent fractures, Bone pain, Fibrous dysplasia of the bones ORPHA:57782
Gnathodiaphyseal Dysplasia
Recurrent fractures, Broad jaw, Osteopenia, Mandibular osteomyelitis, Thickened cortex of long bones ORPHA:53697
Reduced catalase level OMIM:614097
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia, Hypogonadism OMIM:615270
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Avascular Necrosis Of Femoral Head, Primary, 1
Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis OMIM:608805
Immunodeficiency 12
Osteoporosis, Delayed skeletal maturation OMIM:615468
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures OMIM:256720
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Familial Hyperprolactinemia
Osteoporosis, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia, Osteopenia ORPHA:397685
Familial Expansile Osteolysis
Osteolysis, Hydroxyprolinuria, Bone pain, Pathologic fracture, Thin bony cortex OMIM:174810
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis, Aminoaciduria OMIM:204730
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Osteopenia, Camptodactyly, Joint contracture of the hand OMIM:264010
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia, Nephrotic syndrome, Prominent nasal bridge, Delayed skeletal matu... OMIM:613606
Premature Ovarian Failure 2B
Osteoporosis, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Primary amenorrhea, Joint laxity, Wide nose OMIM:616033
Osteoporosis OMIM:166710
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Hypergonadotropic hypogonadism, Recurrent fractures, Primary amenorrhea, Reduced bo... ORPHA:2410
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone m... ORPHA:3416
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Nephropathy, Abnormal B cell coun... ORPHA:100024
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Melorheostosis With Osteopoikilosis
Abnormal cortical bone morphology, Osteopoikilosis ORPHA:1879
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Hyaline Fibromatosis Syndrome
Osteoporosis, Osteopenia, Osteolysis, Progressive flexion contractures OMIM:228600
Tyrosinemia Type 1
Generalized aminoaciduria, Rickets of the lower limbs, Splenomegaly ORPHA:882
Idiopathic Hypercalciuria
Osteoporosis, Renal calcium wasting, Calcium oxalate nephrolithiasis, Hypercalciuria, Osteopenia ORPHA:2197
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Dent Disease 1
Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Proximal t... OMIM:300009
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To
Glyoxalase deficiency, Reduced glutathione synthetase level OMIM:231900
Ovarian Dysgenesis 1
Osteoporosis, Primary amenorrhea OMIM:233300
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical b... ORPHA:2790
Hypophosphatasia, Adult
Carious teeth, Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased suscept... OMIM:146300
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteochondrosis Of The Metatarsal Bone
Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness, Avascular necrosis, Osteochon... ORPHA:564003
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Anosmia, Hyposmia, Osteopenia, Hypogonadism OMIM:615267
Intermediate Osteopetrosis
Cortical sclerosis, Recurrent fractures, Generalized osteosclerosis, Osteosclerosis of the base o... ORPHA:210110
Monosomy 5P
Microretrognathia, Joint hyperflexibility, Recurrent fractures, Wide nasal bridge, Abnormality of... ORPHA:281
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Increased susceptibility to fractures, ... OMIM:612287
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Increased susceptibilit... OMIM:612286
Flynn-Aird Syndrome
Osteoporosis, Carious teeth, Increased bone density with cystic changes, Increased bone mineral d... OMIM:136300
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Concave nasal ridge, Abnormal cortical bone morphology, Pathologic fracture, Dentinogenesis imper... ORPHA:166277
Lichtenstein Syndrome
Osteoporosis, Enamel hypoplasia, Carious teeth, Neutropenia, Increased susceptibility to fracture... OMIM:246550
Fanconi Renotubular Syndrome 2
Renal insufficiency, Rickets, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Hyperc... OMIM:613388
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Osteopenia, Recurrent fractures ORPHA:91133
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Proteinuria OMIM:615605
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Recurrent fractures, Bone pain, Increased spinal bone density ORPHA:329475
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Generalized osteoporosis, Micrognathia, Depressed nasal ... OMIM:613849
Shashi-Pena Syndrome
Osteoporosis, Accelerated skeletal maturation, Retrognathia, Broad nasal tip OMIM:617190
Fanconi Renotubular Syndrome 1
Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Renal insufficiency, Renal tubu... OMIM:134600
Dent Disease
Hematuria, Bone pain, Hypercalciuria, Chronic kidney disease, Thin bony cortex, Delayed epiphysea... ORPHA:1652
Craniofacial hyperostosis, Abnormality of the nose, Abnormal cortical bone morphology, Increased ... ORPHA:3152
Insulin-Like Growth Factor I Deficiency
Osteopenia, Micrognathia, Delayed skeletal maturation OMIM:608747
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Recurrent fractures, Joint laxity OMIM:248010
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Joint hypermobility, Craniosynostosis, Increased circulating IgE level, Recurrent fractures, Pers... OMIM:147060
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Increased susceptibility to fractures, Joint laxity, Premature osteoarthritis OMIM:130060
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Prominent nasal bridge, Dentinogenesis imperfecta ORPHA:71267
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis, Retrognathia, Prominent nose ORPHA:2958
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Bulbous nose, Joint hyperflexibility, Mandibular prognathia, Recurrent fractures, Osteopenia, Del... ORPHA:2324
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis, Anosmia, Primary amenorrhea, Hypogonadotropic hypogonadism, Micropenis OMIM:610628
Osteopetrosis With Renal Tubular Acidosis
Abnormal renal tubule morphology, Carious teeth, Mandibular prognathia, Recurrent fractures, Oste... ORPHA:2785
Rothmund-Thomson Syndrome, Type 1
Osteoporosis, Delayed skeletal maturation, Male hypogonadism, Premature ovarian insufficiency OMIM:618625
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Osteopenia, Bone cyst, Pathologic fracture OMIM:618193
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Recurrent fractures, Osteopetrosis, Generalized osteosclerosis, Bone marrow h... OMIM:166600
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Bruck Syndrome 2
Hydroxyprolinuria, Flexion contracture, Increased susceptibility to fractures, Knee flexion contr... OMIM:609220
Dysplastic Cortical Hyperostosis
Abnormality of the urinary system, Abnormal cortical bone morphology, Increased bone mineral dens... ORPHA:2204
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis, Anosmia, Hyposmia, Hypogonadotropic hypogonadism, Micropenis OMIM:614838
Hypophosphatemic Rickets, X-Linked Recessive
Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Hypophosphatemic rickets, Pro... OMIM:300554
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures OMIM:301014
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis, Retrognathia, Prominent nose OMIM:309610
Osteogenesis Imperfecta, Type V
Joint hypermobility, Dentinogenesis imperfecta, Recurrent fractures, Hyperextensibility at elbow,... OMIM:610967
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteoporosis, Osteopenia, Anteverted nares, Wide nasal bridge OMIM:617810
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Mandibular pain... ORPHA:73
Neonatal Severe Primary Hyperparathyroidism
Recurrent fractures, Aminoaciduria, Splenomegaly ORPHA:417
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Enamel hypoplasia, Hypoplasia of the primary teeth, Prominent nose, Anteverted nare... OMIM:234250
Bruck Syndrome 1
Osteoporosis, Joint laxity, Increased susceptibility to fractures, Knee flexion contracture, Hip ... OMIM:259450
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Carious teeth, Hyperostosis, Increased susceptibility to fractures, Dent... OMIM:604922
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures, Bone pain ORPHA:85193
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Metatarsal osteolysis, Proteinuria, Metacarpal osteolysis, Nephropathy, Carp... OMIM:166300
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Thrombocytopenia, Joint laxity OMIM:614727
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Pulmonary fibrosis, Emphysema, Hypophosphatemic rickets, Aminoacidur... OMIM:618913
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Increased circulating IgE level, Flexion contracture of to... ORPHA:3409
Camptodactyly-Taurinuria Syndrome
Camptodactyly of finger, Aminoaciduria, Increased urinary taurine, Camptodactyly of toe ORPHA:1325
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Camptodactyly, Knee flexion contracture, Joint ... OMIM:214150
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Chronic rhinitis due to narrow nasal airway, Mandibular prognathia, Extramedullary... OMIM:259710
Dibasic Amino Aciduria I
Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria OMIM:222690
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Carious teeth, Recurrent fractures OMIM:126550
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Hydroxyprolinuria, Bone pain, Increased susceptibility to fractures, Fractures of the... OMIM:602080
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Recurrent fractures, Multiple prenatal fractures, Bowing of lim... OMIM:259440
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Fractures of the long bones, Osteopenia, Micrognathia, Delayed skeletal maturation ORPHA:319195
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Delayed eruption of teeth, Rickets, Generalized aminoaciduria, Recurrent fract... OMIM:264700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria OMIM:616026
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Juvenile Paget Disease
Osteoporosis, Cranial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Pyle Disease
Delayed eruption of teeth, Carious teeth, Limited elbow extension, Mandibular prognathia, Hypopla... OMIM:265900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Knee pain, Rickets of the lower limbs, Thin bony cort... OMIM:600785
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Decreased calvarial ossification, Multiple prenatal fractures, Bowing of limbs due to multiple fr... OMIM:259410
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture, Increased urinary glycerol OMIM:307030
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Abnormal cortical bone morphology, Pulmonary hypoplasia, Micrognathia, Limit... ORPHA:1486
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Splenomegaly ORPHA:79303
Perrault Syndrome 1
Osteoporosis, Primary amenorrhea OMIM:233400
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge OMIM:612463
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Abnormal cortical bone morphology, Coa... ORPHA:2635
Majeed Syndrome
Hypochromic microcytic anemia, Leukocytosis, Congenital hypoplastic anemia, Flexion contracture, ... ORPHA:77297
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Achondrogenesis Type 1A
Short nose, Abnormal enchondral ossification, Recurrent fractures, Aplasia/Hypoplasia of the lung... ORPHA:93299
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Anemia, Splenomegaly OMIM:618107
Albers-Schönberg Osteopetrosis
Carious teeth, Mandibular osteomyelitis, Generalized osteosclerosis, Recurrent fractures, Bone pa... ORPHA:53
Hyperprolinemia, Type Ii
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:239510
Hemochromatosis Type 2
Osteoporosis, Hypogonadism, Impotence ORPHA:79230
Amish Lethal Microcephaly
Osteoporosis, Decreased skull ossification, Organic aciduria, Micrognathia, Limitation of joint m... ORPHA:99742
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Convex nasal ridge, Osteoly... OMIM:614008
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility, Wide nasal bridge, Micrognathia, Anteverted nares OMIM:600118
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies
Renal cortical hyperechogenicity, Renal hypoplasia, Avascular necrosis of the capital femoral epi... OMIM:611555
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Delayed eruption of teeth, Rickets, Generalized aminoaciduria, Bone pain, Oste... ORPHA:289157
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Hypophosphatemic rickets, Bone pain, Hypercalciuria, Reduced bone mineral dens... ORPHA:157215
Camptodactyly 1
Camptodactyly of finger, Increased urinary taurine OMIM:114200
Variant Abeta2M Amyloidosis
Renal amyloidosis, Wrist pain, Multiple bony cystic lesions, Knee pain, Pathologic fracture, Chro... ORPHA:314652
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger, Micrognathia, Hypogonadotropic hypogonadism ORPHA:48431
Ck Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Retrognathia, Micrognathia, Prominent nas... OMIM:300831
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Recurrent fractures, Bone pain, Hyper... OMIM:241530
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Wide nasal bridge, Generalized osteoporos... OMIM:617952
Wilson Disease
Osteoporosis, Joint hypermobility, Hemolytic anemia, Hyperphosphaturia, Aminoaciduria, Glycosuria... OMIM:277900
Histidinuria, Citrullinuria, Hyperlysinuria OMIM:268700
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal sclerosis, Hyperostosi... OMIM:144750
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia, Abnormality of the kidney, Proteinuria ORPHA:369
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint laxity ORPHA:2788
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:242600
Hyperglycinuria, Hydroxyprolinuria, Prolinuria ORPHA:42062
Buschke-Ollendorff Syndrome
Craniosynostosis, Flexion contracture, Recurrent fractures, Generalized osteosclerosis, Bone pain... ORPHA:1306
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Delayed skeletal maturation, Recurrent fractures, Primary amenorrhea, Reduced bone ... ORPHA:2235
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Aminoaciduria, Hydronephrosis, Osteopenia, Micrognathia OMIM:617913
Indolent Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly, Pulmonary lymphangiectasia, Depressed nasal bridge OMIM:616006
Marshall-Smith Syndrome
Accelerated skeletal maturation, Craniosynostosis, Short nose, Joint hyperflexibility, Choanal at... ORPHA:561
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N... OMIM:220100
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth OMIM:125440
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Osteoporosis, Bone cyst, Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Ab... ORPHA:2583
Distal Renal Tubular Acidosis
Hypocitraturia, Hemolytic anemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, R... ORPHA:18
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis, Nephrolithiasis, Menometrorrhagia ORPHA:189427
Osteogenesis Imperfecta, Type Iv
Recurrent fractures, Reduced bone mineral density, Increased susceptibility to fractures, Bowing ... OMIM:166220
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Hypogonadism, Increased susceptibility to fractures ORPHA:189439
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Joint hyperflexib... ORPHA:1515
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia, Anteverted nares, Broad nasal tip ORPHA:529665
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Bruck Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Recurrent fractures, Joint stiffness ORPHA:2771
Renal Tubular Acidosis, Distal, 1
Renal tubular acidosis, Osteomalacia, Pathologic fracture, Nephrocalcinosis OMIM:179800
Osteolysis, Pathologic fracture ORPHA:668
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density, Carious teeth, Delayed skeletal maturation ORPHA:2501
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Bone pain, Thin bony cortex, Delayed epiphyseal ossification, Spars... OMIM:600081
Limited elbow extension, Tryptophanuria, Camptodactyly of finger, Generalized joint laxity OMIM:600627
Gaucher Disease Type 1
Osteolysis, Hematuria, Increased circulating antibody level, Bone pain, Increased bone mineral de... ORPHA:77259
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Bone pain, Coarse metaphyseal trabecularization, Oste... ORPHA:93160
Osteoporosis, Recurrent lower respiratory tract infections OMIM:616000
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Caffey Disease
Periosteal thickening of long tubular bones, Increased circulating antibody level, Cortical thick... ORPHA:1310
Premature Aging Syndrome, Okamoto Type
Osteoporosis, Depressed nasal bridge OMIM:601811
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Recurrent fractures, Osteopetrosis, Thrombocytopenia, Anemia, Splenomegaly, Hepa... OMIM:611490
Delayed eruption of teeth, Abnormal dental enamel morphology, Craniofacial hyperostosis, Recurren... ORPHA:1782
Grant Syndrome
Joint hyperflexibility, Abnormal cortical bone morphology, Decreased skull ossification, Microgna... ORPHA:2097
Joint stiffness, Osteoarthritis, Abnormal cortical bone morphology, Arthritis ORPHA:1525
Richards-Rundle Syndrome
Hypergonadotropic hypogonadism, Reduced bone mineral density, Ketonuria, Joint stiffness ORPHA:1399
Ovarian Dysgenesis 8
Osteoporosis, Primary amenorrhea OMIM:618187
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Decreased calvarial ossification, Recurrent fractures, Severe generalized... OMIM:259420
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Impaired histidine renal tubular absorption, Delayed skeletal maturation, Wide nasa... ORPHA:2158
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acid... ORPHA:3337
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Urinary incontinence, Bone cyst, Pathologic fracture OMIM:221770
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Ankylosis, Hydroxyprolinuria, Recurrent fractures, Increased bone mineral density OMIM:239000
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Sialidosis Type 2
Osteoporosis, Flexion contracture, Nephropathy, Splenomegaly ORPHA:87876
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Male hypogonadism, Azoospermia, Generalized joint laxity, Non-obstructive azoosperm... ORPHA:432
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia, Spontaneous, recurrent epistaxis, Myelofibrosis OMIM:616937
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Urinary bladder sphincter dysfunction, Osteolysis, Pathologic fracture, Increased susceptibility ... ORPHA:52430
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmental glomeruloscler... OMIM:308990
Geroderma Osteodysplasticum
Osteoporosis, Mandibular prognathia, Camptodactyly, Recurrent fractures, Hyperextensibility of th... OMIM:231070
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Joint hyperflexibility, Decreased calvarial ossification, Recurrent fractures, Hypoplasia of penis ORPHA:2772
Solitary Bone Cyst
Pathologic fracture, Unicameral bone cyst, Bone pain ORPHA:83468
Specific Granule Deficiency 2
Absent neutrophil specific granules, Neutropenia, Thrombocytopenia, Anemia, Recurrent pneumonia, ... OMIM:617475
Osteogenesis Imperfecta, Type Xi
Osteopenia, Increased susceptibility to fractures, Dentinogenesis imperfecta, Joint laxity OMIM:610968
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Renal phosphate wasting, Craniosynostosis, Abnormality of renal excret... ORPHA:289176
Beta-Thalassemia Intermedia
Osteoporosis, Persistence of hemoglobin F, Decreased mean corpuscular volume, Leukocytosis, Extra... ORPHA:231222
Pseudohypoparathyroidism, Type Ic
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PT... OMIM:612462
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Recurrent fractures ORPHA:2773
Hypophosphatasia, Infantile
Nephrocalcinosis, Craniosynostosis, Elevated urine pyrophosphate, Decreased calvarial ossificatio... OMIM:241500
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Unilateral renal agenesis, Abnormal cortical bone morphology ORPHA:2512
Familial Isolated Hyperparathyroidism
Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Generalized osteoporosis, Osteopenia, Nep... ORPHA:99879
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Aminoaciduria ORPHA:2278
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Neutropenia, Bo... ORPHA:98850
Classic Galactosemia
Osteoporosis, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Abnormal erythr... ORPHA:79239
Hyperprolinemia, Type I
Hyperglycinuria, Hydroxyprolinuria, Prolinuria OMIM:239500
Pigmented Villonodular Synovitis
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Osteolysis ORPHA:66627
Rickets, Aminoaciduria, Nephropathy, Renal insufficiency, Renal tubular dysfunction, Proteinuria ORPHA:213
Osteopetrosis, Autosomal Dominant 1
Mandibular pain, Osteopetrosis, Generalized osteosclerosis, Calvarial osteosclerosis, Thickened c... OMIM:607634
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Delayed eruption of teeth, Carious teeth, Rickets, Recurrent fractures, Bone p... OMIM:277440
Lysine Malabsorption Syndrome
Renal tubular lysine transport defect, Hyperlysinuria OMIM:247950
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Recurrent fractures, Coronal craniosynostosis, Osteopenia, Micrognathia OMIM:112240
Werner Syndrome
Osteoporosis, Convex nasal ridge, Hypogonadism OMIM:277700
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Stimmler Syndrome
Abnormal dental enamel morphology, Aminoaciduria ORPHA:3199
Oncogenic Osteomalacia
Renal phosphate wasting, Hyperphosphaturia, Bone pain, Fibrous dysplasia of the bones, Pathologic... ORPHA:352540
Hyperlysinuria, Cystinuria OMIM:222350
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
Fanconi-Bickel Syndrome
Hyperphosphaturia, Rickets, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tubular aci... ORPHA:2088
Mercaptolactate-Cysteine Disulfiduria
Aminoaciduria, Depressed nasal bridge OMIM:249650
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Recurrent fractures OMIM:619131
Fanconi-Bickel Syndrome
Hyperphosphaturia, Generalized aminoaciduria, Glycosuria, Osteomalacia, Renal tubular dysfunction OMIM:227810
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Ur... OMIM:613989
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Stiff shoulders, Hip osteoarthritis, Knee osteoarthritis, Osteopenia... ORPHA:2619
Osteogenesis Imperfecta, Type I
Joint hypermobility, Recurrent fractures, Dentinogenesis imperfecta, Increased susceptibility to ... OMIM:166200
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Pseudohypoparathyroidism, Type Ia
Osteoporosis, Delayed eruption of teeth, Enamel hypoplasia, Low urinary cyclic AMP response to PT... OMIM:103580
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Azoospermia, Anosmia, Primary amenorrhea, Hypogonadotropic hypogonadism, Osteopenia, Micropenis, ... OMIM:614837
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones ORPHA:93351
Hemochromatosis, Type 1
Osteoporosis, Azoospermia, Amenorrhea, Pleural effusion, Impotence, Testicular atrophy, Splenomeg... OMIM:235200
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Micrognathia, Osteoarthritis OMIM:618000
Hutchinson-Gilford Progeria Syndrome
Micrognathia, Osteolysis, Generalized osteoporosis OMIM:176670
Familial Osteodysplasia, Anderson Type
Carious teeth, Failure of eruption of permanent teeth, Bulbous nose, Mandibular prognathia, Recur... ORPHA:2769
Histidinuria Due To A Renal Tubular Defect
Histidinuria, Impaired histidine renal tubular absorption, Wide nasal bridge OMIM:235830
Metaphyseal Chondrodysplasia, Jansen Type
Nephrocalcinosis, Choanal stenosis, Hyperphosphaturia, Choanal atresia, Hypercalciuria, Pathologi... OMIM:156400
Gaucher Disease Type 3
Osteolysis, Hematuria, Increased circulating antibody level, Delayed skeletal maturation, Bone pa... ORPHA:77261
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Convex nasal ridge, Flexion contracture, Hypogonadism, Micrognathia OMIM:615381
Galactosemia Iii
Aminoaciduria, Galactosuria, Splenomegaly OMIM:230350
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Osteopetrosis, Increased bone mineral density, Pancytopenia, Thr... OMIM:259700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Short nose, Hypercalciuria, Renal cyst, Ureteral stenosis, Osteopenia, Nephrocalcin... OMIM:615398
Lysinuric Protein Intolerance
Osteoporosis, Pulmonary hemorrhage, Hemophagocytosis, Intraalveolar phospholipid accumulation, Re... OMIM:222700
Perrault Syndrome 4
Osteoporosis, Premature ovarian insufficiency, Oligomenorrhea, Primary amenorrhea, Secondary amen... OMIM:615300
Osteogenesis Imperfecta, Type Ii
Convex nasal ridge, Recurrent fractures, Absent ossification of calvaria, Multiple prenatal fract... OMIM:166210
Caffey Disease
Cortical irregularity, Calvarial hyperostosis, Periosteal thickening of long tubular bones OMIM:114000
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Reduced bone mineral density, Recurrent fractures, Joint hypermobility OMIM:619115
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Joint stiffness, Joint contracture of the hand, Osteoarthr... OMIM:208230
Peroxisome Biogenesis Disorder 3B
Osteoporosis, Depressed nasal ridge OMIM:266510
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Reduced bone mineral density, Recurrent fractures ORPHA:137608
Odontochondrodysplasia 1
Osteoporosis, Delayed eruption of teeth, Joint hypermobility, Nephronophthisis, Delayed ossificat... OMIM:184260
Glutamate Formiminotransferase Deficiency
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Aminoaciduria OMIM:229100
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Osteomyelitis, Craniosynostosis, Increased circulating IgE level, Join... ORPHA:2314
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Reduced bone mineral density, Short nose ORPHA:2370
Geroderma Osteodysplastica
Osteoporosis, Abnormal bone ossification, Joint hyperflexibility, Mandibular prognathia, Recurren... ORPHA:2078
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Dicarboxylic Aminoaciduria
Aspartic aciduria, Nephrolithiasis, Aminoaciduria OMIM:222730
Lowry-Maclean Syndrome
Osteoporosis, Convex nasal ridge, Delayed eruption of primary teeth, Craniosynostosis, Talon cusp... ORPHA:2409
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Avascular necrosis of the capital femoral epiphysi... ORPHA:1901
Hyperthreoninuria OMIM:273770
Tiglic Acidemia
Aminoaciduria OMIM:275190
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Concave nasal ridge, Hypogonadism, Micrognathia, Delayed... ORPHA:73272
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short nose, Pleural effusion, Micropenis, Flexion contracture, Wide nasal bridge, Pulmonary hypop... OMIM:616897
Ichthyosis, Split Hairs, And Amino Aciduria
Aminoaciduria OMIM:242550
Maffucci Syndrome
Osteolysis, Recurrent fractures, Bone pain ORPHA:163634
Camurati-Engelmann Disease, Type 2
Lower limb pain, Hyperostosis, Hip contracture, Knee flexion contracture, Osteopenia, Hypogonadism OMIM:606631
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Osteolysis involving bon... ORPHA:371428
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome
Aminoaciduria ORPHA:79156
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ... ORPHA:47159
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Diaphyseal cortical sclerosis,... OMIM:112250
Estrogen Resistance Syndrome
Osteoporosis, Primary amenorrhea, Marked delay in bone age, Delayed epiphyseal ossification, Oste... ORPHA:785
Carnosinase Deficiency
Carnosinuria ORPHA:1361
5-Oxoprolinase Deficiency
Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine OMIM:260005
Carnosinuria OMIM:212200
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Proximal tubulopathy, Rickets, Polyuria OMIM:560000
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Bone pain, Normocytic a... ORPHA:98849
Cushing Disease
Osteoporosis, Infertility, Recurrent fractures, Menorrhagia, Metrorrhagia, Nephrolithiasis, Avasc... ORPHA:96253
Delayed eruption of teeth, Sclerosis of hand bone, Absent frontal sinuses, Natal tooth, Clavicula... OMIM:224300
Hyperlysinuria OMIM:236900
Mucopolysaccharidosis, Type Iva
Osteoporosis, Carious teeth, Joint laxity, Recurrent upper respiratory tract infections, Chondroi... OMIM:253000
Mccune-Albright Syndrome
Accelerated skeletal maturation, Renal phosphate wasting, Renal tubular dysfunction, Hyperphospha... ORPHA:562
Prostatitis, Abnormality of the nose, Aminoaciduria, Reduced bone mineral density, Joint stiffnes... ORPHA:56
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Generalized osteoporosis, Homocystinuria, Limitation of joint mobility, Methioninuria OMIM:236200
Mucolipidosis Type Iii
Craniofacial hyperostosis, Reduced bone mineral density, Joint stiffness ORPHA:577
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Generalized bone demineralization, Mucopolysacchariduria, Abnormal T cell morphology, Decreased c... OMIM:215250
Rhyns Syndrome
Osteopenia, Nephronophthisis, Delayed skeletal maturation, Multicystic kidney dysplasia ORPHA:140976
Kallmann Syndrome
Erectile dysfunction, Anosmia, Recurrent fractures, Primary amenorrhea, Dyspareunia, Reduced bone... ORPHA:478
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Infertility, Hypopla... ORPHA:2909
Propionic Acidemia
Osteoporosis, Neutropenia, Thrombocytopenia, Pancytopenia, Hyperglycinuria, Anemia, Increased lev... OMIM:606054
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Reduced bone mineral density, Symmetric polyarthritis, Osteopenia, Limitation of joint... ORPHA:85435
Functioning Gonadotropic Adenoma
Osteoporosis, Abnormality of the menstrual cycle, Infertility, Amenorrhea, Oligospermia, Impotenc... ORPHA:91348
Emphysema, Craniosynostosis, Recurrent fractures, Anemia ORPHA:436
Cantu Syndrome
Osteoporosis, Wide nasal bridge, Anteverted nares, Delayed skeletal maturation, Depressed nasal b... OMIM:239850
Proteus Syndrome
Mandibular hyperostosis, Thin bony cortex, Splenomegaly, Facial hyperostosis, Calvarial hyperosto... OMIM:176920
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Cystathioninuria OMIM:219500
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Increased urinary taurine OMIM:237400
Aminoaciduria ORPHA:716
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Progesterone Resistance
Female infertility OMIM:264080
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly ORPHA:79238
Glutamate-Cysteine Ligase Deficiency
Reticulocytosis, Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria ORPHA:33574
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Delayed skeletal maturation, Splenomegaly ORPHA:172
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria
Alpha-aminoadipic aciduria OMIM:204750
Primary Hyperoxaluria
Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Recurrent fractures, Genera... ORPHA:416
Multiple Osteochondromas
Osteolysis, Synostosis of joints, Recurrent fractures, Bone pain, Avascular necrosis, Anteverted ... ORPHA:321
Galactosemia I
Hemolytic anemia, Albuminuria, Hypergonadotropic hypogonadism, Aminoaciduria, Increased level of ... OMIM:230400
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis, Increased urinary cortisol level OMIM:615954
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia OMIM:615923
Osteoporosis, Abnormality of the menstrual cycle, Decreased fertility in females, Male hypogonadi... ORPHA:2965
46,Xx Gonadal Dysgenesis
Pulmonary fibrosis, Delayed skeletal maturation, Streak ovary, Primary amenorrhea, Reduced bone m... ORPHA:243
Delayed eruption of teeth, Osteolysis, Recurrent fractures, Bone pain, Abnormal pelvis bone ossif... ORPHA:763
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Renal tubular dysfunction OMIM:606528
Renal tubular dysfunction, Aminoaciduria OMIM:236800
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Convex nasal ridge, Osteoporosis of vertebrae, Hypoplasia of the maxilla OMIM:156510
Glutathione Synthetase Deficiency
Increased level of L-pyroglutamic acid in urine, Hemolytic anemia, Neutropenia OMIM:266130
Aromatase Deficiency
Osteoporosis, Hypergonadotropic hypogonadism, Bone pain, Primary amenorrhea, Female infertility, ... ORPHA:91
Schimmelpenning-Feuerstein-Mims Syndrome
Abnormality of dental color, Horseshoe kidney, Hyperphosphaturia, Hypophosphatemic rickets, Recur... OMIM:163200
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Mandibular prognathia, Recurrent fractures, Hyperextensibility of the finger joints OMIM:309583
Multiple Myeloma
Acute kidney injury, Pleural effusion, Decreased circulating antibody level, Elevated circulating... ORPHA:29073
Spinal muscular atrophy, type I, with congenital bone fractures
Osteopenia, Flexion contracture, Multiple prenatal fractures OMIM:271225
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Carious teeth, Joint laxity, Recurrent upper respiratory tract infections, Mandibul... OMIM:253010
Estrogen Resistance
Osteopenia, Delayed skeletal maturation, Primary amenorrhea OMIM:615363
Diamond-Blackfan Anemia 7
Osteoporosis, Horseshoe kidney, Choanal atresia, Neutropenia, Vesicoureteral reflux, Increased me... OMIM:612562
Carnosinuria OMIM:236130
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Bone pain, Osteomalacia OMIM:193100
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity
Homocystinuria OMIM:236250
Macular Dystrophy, Retinal, 1, North Carolina Type
Generalized aminoaciduria OMIM:136550
Hartnup Disorder
Neutral hyperaminoaciduria OMIM:234500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria OMIM:612075
Gracile Syndrome
Aminoaciduria OMIM:603358
Schindler Disease, Type I
Osteopenia, Increased urinary O-linked sialopeptides OMIM:609241
3-Hydroxyisobutyric Aciduria
Aminoaciduria OMIM:236795
Spondylo-Ocular Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:85194
Valinuria OMIM:277100
Niemann-Pick Disease, Type A
Osteoporosis, Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Splenomegaly, Di... OMIM:257200
Dermotrichic Syndrome
Aminoaciduria, Short nose, Anemia, Depressed nasal bridge ORPHA:99688
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Renal agenesis, Pulmonary artery hypoplasia, Total anosmia, Hypogonadotropic hypogo... ORPHA:2326
Antley-Bixler Syndrome
Camptodactyly of finger, Abnormal renal morphology, Craniosynostosis, Short nose, Choanal atresia... ORPHA:83
Mccune-Albright Syndrome
Craniofacial hyperostosis, Pathologic fracture, Polyostotic fibrous dysplasia OMIM:174800
Nail-Patella Syndrome
Enamel hypoplasia, Hematuria, Renal insufficiency, Elbow flexion contracture, Osteochondritis Dis... ORPHA:2614
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Short nose, Flexion contracture, Micrognathia, Wide nose OMIM:615851
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteoporosis, Delayed eruption of teeth, Metatarsal osteolysis, Bulbous nose, Camptodactyly of to... OMIM:259600
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Macs Syndrome
Osteoporosis, Joint hypermobility, Bronchiectasis, Hypergonadotropic hypogonadism, Urethral stenosis OMIM:613075
Dent Disease 2
Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Hypercalciuria, Chronic ki... OMIM:300555
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Bone pain, Patchy osteosclerosis OMIM:167250
Nasu-Hakola Disease
Bone cyst, Bone pain, Reduced bone mineral density, Limitation of joint mobility, Acute leukemia ORPHA:2770
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Hyperparathyroidism 4
Osteopenia, Nephrolithiasis OMIM:617343
Duchenne And Becker Muscular Dystrophy
Reduced bone mineral density, Joint stiffness ORPHA:262
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Osteoporosis, Osteolysis, Bone pain, Abnormal cortical bone morphology, Splenomegaly, Limitation ... ORPHA:2796
Desbuquois Dysplasia 1
Osteoporosis, Advanced tarsal ossification, Short nose, Joint laxity, Microretrognathia, Concave ... OMIM:251450
Cleidocranial Dysplasia
Osteoporosis, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Mandib... ORPHA:1452
Familial Parathyroid Adenoma
Calcium nephrolithiasis, Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Hypercalciu... ORPHA:99877
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Aminoaciduria, Macrothrombocytopenia, Thrombocytopenia, Decrea... OMIM:603585
H Syndrome
Osteolysis, Azoospermia, Bronchiectasis, Amenorrhea, Microcytic anemia, Enlarged kidney, Camptoda... ORPHA:168569
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Joint hyperflexibility, Recurrent respirato... ORPHA:2484
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Infertility, Amenorrhea, Erectile dysfunction, Stiff interphalangeal joints, Testic... ORPHA:465508
Methylcobalamin Deficiency Type Cble
Osteoporosis, Neutropenia, Glomerulopathy, Pancytopenia, Hemolytic-uremic syndrome, Increased mea... ORPHA:2169
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wide anterior fontanel, Increased bone mineral density, Obtuse angle of mandible, Thin bony corte... ORPHA:85184
Infantile Nephropathic Cystinosis
Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Aminoaciduria, Glycosuria, Abnormal... ORPHA:411629
Seizures-Scoliosis-Macrocephaly Syndrome
Reduced bone mineral density, Abnormality of the kidney, Bulbous nose ORPHA:466926
Fibrous Dysplasia Of Bone
Abnormality of the sphenoid sinus, Osteolysis, Patchy reduction of bone mineral density, Rickets,... ORPHA:249
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Pink urine, Thrombocytopenia, Pathologic fracture, Joint contractur... OMIM:263700
Combined Oxidative Phosphorylation Deficiency 52
Renal insufficiency, Lacticaciduria, Aminoaciduria OMIM:619386
Immunodeficiency 31C
Autoimmune hemolytic anemia, Osteopenia, Lymphopenia, Recurrent respiratory infections OMIM:614162
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Paget Disease Of Bone 6
Bone pain, Nephrocalcinosis, Recurrent fractures, Osteoarthritis OMIM:616833
Stuve-Wiedemann Syndrome
Osteoporosis, Wide nasal base, Abnormal dental enamel morphology, Short nose, Pulmonary arterial ... OMIM:601559
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Carious teeth, Pulmonary fibrosis, Interstitial pneumonitis, Lymphopenia, Thrombocy... OMIM:127550
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Short nose, Pathologic fracture, Osteopenia, Elbow flexion contracture, Anteverted nares OMIM:612394
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Osteolytic defects of the phalanges of the hand, Osteopenia, Limitation of joint mo... OMIM:259100
Hyperoxaluria, Primary, Type I
Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Bone pain, Increased bone mineral dens... OMIM:259900
Pathologic fracture, Bone pain ORPHA:55881
Post-Traumatic Pituitary Deficiency
Infertility, Amenorrhea, Osteoporosis of vertebrae, Hypogonadotropic hypogonadism, Osteopenia, De... ORPHA:95619
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Limited elbow extension, Joint laxity, Micrognathia, Increased susceptibility to fractures, Elbow... ORPHA:93359
Rhizomelic Chondrodysplasia Punctata, Type 2
Flexion contracture, Wide nasal bridge, Osteopenia, Micrognathia, Anteverted nares, Depressed nas... OMIM:222765
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Craniosynostosis, Episodic hemolytic anemia, Enlarged kidney, ... ORPHA:251004
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Splenomegaly, Decreased circulating IgA level... OMIM:612301
Hyperglycinuria, Calcium oxalate nephrolithiasis OMIM:138500
Osteoporosis, Chronic leukemia, Recurrent fractures, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
X Small Rings
Osteoporosis, Joint laxity, Primary amenorrhea, Reduced bone mineral density, Fetal pyelectasis, ... ORPHA:96201
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Aminoaciduria OMIM:250620
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Anosmia, Choanal atresia, Primary amenorrhea, Hypogonadotropic hypogonadism, Osteopenia, Micropenis OMIM:147950
Rowley-Rosenberg Syndrome
Atelectasis, Aminoaciduria, Recurrent pneumonia OMIM:268500
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria OMIM:609560
Sialidosis Type 1
Delayed skeletal maturation, Aminoaciduria, Wide nasal bridge, Urinary excretion of sialylated ol... ORPHA:812
19P13.3 Microduplication Syndrome
Osteoporosis, Micrognathia, Underdeveloped nasal alae, Prominent nose ORPHA:447980
Lysinuric Protein Intolerance
Pathologic fracture, Argininuria, Leukopenia, Anemia, Hyperlysinuria, Osteoporosis, Hemophagocyto... ORPHA:470
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Alaninuria OMIM:202900
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Flexion contracture of toe, Wrist flexion contracture, Joint contracture of the han... OMIM:255800
Xp21 Deletion Syndrome
Osteoporosis, Reduced bone mineral density, Joint laxity, Hypogonadotropic hypogonadism ORPHA:261476
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Osteopenia, Retrognathia OMIM:212112
Multiple Enchondromatosis, Maffucci Type
Pathologic fracture OMIM:614569
Peroxisome Biogenesis Disorder 1A (Zellweger)
Epiphyseal stippling, Albuminuria, Aminoaciduria, Renal cortical microcysts, Pulmonary hypoplasia... OMIM:214100
Lowe Oculocerebrorenal Syndrome
Enamel hypoplasia, Joint hypermobility, Camptodactyly of finger, Hyperphosphaturia, Rickets, Amin... OMIM:309000
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Aminoaciduria, Thrombocytopenia, Anemia, Ketonuria, Bone marrow hypocellularity, Dep... OMIM:614520
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Convex nasal ridge, Short nose, Generalized joint laxity, Micropenis, Increased susceptibility to... ORPHA:251028
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Thrombocytopenia, Pathologic fracture, Increased susceptibility to fractures, Anemi... OMIM:612199
Reduced bone mineral density, Megacystis, Delayed skeletal maturation, Abnormality of the urinary... ORPHA:977
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Carious teeth, Tubulointerstitial fibrosis, Enlarged kidney, Irregular menstruation... ORPHA:79259
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Absent frontal sinuses, Joint laxity, Pathologic fracture, Ren... OMIM:102500
Hereditary Orotic Aciduria
Aminoaciduria, Wide nasal bridge, Abnormality of the ureter, Impaired T cell function, Anemia, Sp... ORPHA:30
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Osteogenesis Imperfecta, Type Viii
Joint laxity, Wide anterior fontanel, Recurrent fractures, Multiple prenatal fractures, Decreased... OMIM:610915
Hsd10 Disease
Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile ORPHA:391417
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Abnormal pelvis bone ossification, Multiple prenata... OMIM:215140
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Infertility, Primary amenorrhea, Hypogonadotropic hypogonadism, Osteopenia, Hypogon... ORPHA:398079
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand, Renal ... OMIM:226980
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Hypergonadotropic hypogonadism, Generalized osteoporosis, M... ORPHA:2959
Microcephalic Primordial Dwarfism, Montreal Type
Reduced bone mineral density, Carious teeth, Micrognathia, Convex nasal ridge ORPHA:2617
Dysplasia Epiphysealis Hemimelica
Accelerated skeletal maturation, Tarsal synostosis, Recurrent fractures, Bone pain, Joint stiffne... ORPHA:1822
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Allergic rhinitis, Anemia of inadequate production, Anemia, Splenomegaly, Osteopen... OMIM:612714
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Pulmonary fibrosis, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bo... OMIM:613990
Sapho Syndrome
Osteolysis, Craniofacial osteosclerosis, Recurrent fractures, Synovitis, Enthesitis, Bone pain, H... ORPHA:793
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Laryngotracheomalacia, Knee pain, Reduced bone mineral density, Abnormally ossified... ORPHA:94068
Refractory Celiac Disease
Osteoporosis, Iron deficiency anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Disorder Of Sex Development-Intellectual Disability Syndrome
Short nose, Reduced bone mineral density, Spina bifida occulta, Hypoplasia of penis, Hypogonadism ORPHA:2983
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide anterior fontanel, Abnormal cortical bone morphology, Wide nasal bridge, Renal tubular dysfu... OMIM:614886
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint hypermobility, Pathologic fracture, Increased susceptibility to fractures OMIM:259770
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Delayed skeletal maturation, Narrow nose, Osteopenia, Micrognathia, Pr... OMIM:601812
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Slender nose, Carious teeth, Abnormal dental enamel morphology, Abnorm... ORPHA:221016
Celiac Disease, Susceptibility To, 1
Osteoporosis, Enamel hypoplasia, Infertility, Iron deficiency anemia, Thrombocytosis, Rickets, De... OMIM:212750
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Oligomenorrhea, Irregular menstruation, Myoglobinuria, Renal tubular acidosis, Sple... ORPHA:264580
Stüve-Wiedemann Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of finger, Flexion contracture, Recurr... ORPHA:3206
2P21 Microdeletion Syndrome
Hypogonadism, Nephrolithiasis, Cystinuria, Depressed nasal bridge ORPHA:163693
Glycogen Storage Disease Ib
Osteoporosis, Enlarged kidney, Focal segmental glomerulosclerosis, Neutropenia, Decreased glomeru... OMIM:232220
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis, Carious teeth, Pulmonary fibrosis, Thrombocytopenia, Aplastic anemia, Bone marrow h... OMIM:224230
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Pathologic fracture, Osteopenia, Hypogonadism, Anteverted nares, Recurrent ... OMIM:614231
Werner Syndrome
Osteoporosis, Convex nasal ridge, Renal neoplasm, Decreased fertility, Increased bone mineral den... ORPHA:902
Intermediate Nemaline Myopathy
Arthrogryposis multiplex congenita, Multiple prenatal fractures, Flexion contracture ORPHA:171433
Axial Osteomalacia
Osteomalacia, Renal cyst, Increased bone mineral density OMIM:109130
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Reduced bone mineral density, Anteverted nares, Depressed nasal bridge ORPHA:83629
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Trismus, Hypogona... ORPHA:2671
Familial Dysautonomia
Abnormality of the kidney, Osteolysis, Abnormal pleura morphology, Recurrent fractures, Glomerulo... ORPHA:1764
Glycine Encephalopathy
Hyperglycinuria OMIM:605899
Hyperparathyroidism, Neonatal Severe
Hyperphosphaturia, Recurrent fractures, Aminoaciduria, Polyuria, Hypercalciuria, Anemia, Splenome... OMIM:239200
Carbamoyl-Phosphate Synthetase 1 Deficiency
Aminoaciduria ORPHA:147
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Abnormal trabecular ... ORPHA:221008
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Hyperphosphaturia, Rickets, Tooth abscess, Bone pain, Osteomalacia ORPHA:89937
Gaucher Disease
Arthrogryposis multiplex congenita, Hematuria, Bone pain, Increased bone mineral density, Pancyto... ORPHA:355
Osteoglophonic Dysplasia
Craniosynostosis, Abnormal nasopharynx morphology, Short nose, Chordee, Nasal congestion, Mandibu... OMIM:166250
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis, Accelerated skeletal maturation, Wide nasal bridge, Anteverted nares, Delayed skele... ORPHA:1517
Glycogen Storage Disease Ia
Osteoporosis, Focal segmental glomerulosclerosis, Enlarged kidney, Decreased glomerular filtratio... OMIM:232200
Mohr-Tranebjaerg Syndrome
Increased susceptibility to fractures OMIM:304700
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Red-brown urine, Purple urine, Erythroid hyperplasia,... ORPHA:95159
Cystinosis, Nephropathic
Male hypogonadism, Rickets, Renal Fanconi syndrome, Hypophosphatemic rickets, Generalized aminoac... OMIM:219800
Nephrolithiasis, Cystathioninuria ORPHA:212
Brittle Cornea Syndrome
Osteoporosis, Joint hyperflexibility, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Multiple Acyl-Coa Dehydrogenase Deficiency
Wide anterior fontanel, Renal cortical cysts, Glutaric aciduria, Generalized aminoaciduria, Proxi... OMIM:231680
Hypotonia-Cystinuria Syndrome
Retrognathia, Nephrolithiasis, Cystinuria ORPHA:163690
Microcytic anemia, Thrombocytopenia, Reduced bone mineral density, Anemia, Splenomegaly, Hypogona... ORPHA:848
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Increased susceptibility to fr... OMIM:256810
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Decreased fertility in females, Hypergonadotropic hypogonadism, Decreased fertility... ORPHA:90796
Muscular Dystrophy, Cardiac Type
Carnosinuria OMIM:309930
Congenital Erythropoietic Porphyria
Osteoporosis, Poikilocytosis, Osteolysis, Hemolytic anemia, Red-brown urine, Purple urine, Reticu... ORPHA:79277
Hyperlysinuria With Hyperammonemia
Dibasicaminoaciduria, Hyperlysinuria OMIM:238750
Prader-Willi Syndrome
Osteoporosis, Infertility, Primary amenorrhea, Increased susceptibility to fractures, Osteopenia,... ORPHA:739
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Reticular pattern on pulmonary HRCT, Pulmonary fibrosis, Pancytopenia, Usual in... OMIM:614742
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Infertility, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Streak ov... ORPHA:2232
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Recurrent fractures, Tracheomalacia, Laryngomal... ORPHA:140
Multiple Pterygium Syndrome, X-Linked
Flexion contracture, Vertebral fusion, Pulmonary hypoplasia, Increased susceptibility to fracture... OMIM:312150
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Joint hyperflexibility, Reduced bone mineral density, Spina bifida occulta, Anteverte... ORPHA:1185
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Aminoaciduria, Thiamine-responsive megaloblastic anemia OMIM:249270
Cleidocranial Dysplasia
Enamel hypoplasia, Delayed pubic bone ossification, Delayed eruption of primary teeth, Absent fro... OMIM:119600
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis, Nephrolithiasis, Oligomenorrhea OMIM:219090
Arthrogryposis, Distal, Type 2A
Restricted neck movement due to contractures, Short nose, Underdeveloped nasal alae, Flexion cont... OMIM:193700
Weismann-Netter Syndrome
Anemia, Abnormal cortical bone morphology ORPHA:3344
Progressive Pseudorheumatoid Arthropathy Of Childhood
Camptodactyly, Abnormality of hand joint mobility, Generalized osteoporosis, Joint contracture of... ORPHA:1159
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Multiple renal cysts, Absent frontal sinuses, Joint hyperflexibility, R... ORPHA:955
Renal Tubular Acidosis Iii
Bicarbonate-wasting renal tubular acidosis, Rickets, Osteomalacia, Nephrocalcinosis, Nephrolithiasis OMIM:267200
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Hyperplasia of the maxilla, Decreased mean corpuscul... ORPHA:231226
Primary Parathyroid Hyperplasia
Osteoporosis, Bone pain, Hypercalciuria, Renal insufficiency, Nephrocalcinosis, Nephrolithiasis ORPHA:99878
Oculocerebrorenal Syndrome Of Lowe
Abnormal dental enamel morphology, Carious teeth, Hematuria, Mandibular prognathia, Hypercalciuri... ORPHA:534
Oligomenorrhea, Primary amenorrhea, Reduced bone mineral density, Secondary amenorrhea, Renal ins... ORPHA:352
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Renal cortical adenoma, Renal oncocytoma, Papillary renal cell carcinoma ORPHA:97290
Methionine Malabsorption Syndrome
Aminoaciduria OMIM:250900
Primary Intestinal Lymphangiectasia
Osteoporosis, Iron deficiency anemia, Pleural effusion, Decreased circulating antibody level, Lym... ORPHA:90362
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Splenomegaly ORPHA:664
Grange Syndrome
Increased susceptibility to fractures ORPHA:79094
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Recurrent fractures ORPHA:93315
Osteoporosis, Horseshoe kidney, Short nose, Increased mean platelet volume, Wide nasal bridge, An... OMIM:607330
Dyskeratosis Congenita
Osteoporosis, Carious teeth, Taurodontia, Abnormality of neutrophils, Recurrent fractures, Abnorm... ORPHA:1775
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Vertebral fusion, Pulmonary hypoplasia, Increased susceptibility to fracture... OMIM:253290
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Flexion contracture, Decreased circulating IgA level, Splenomegaly, Osteopenia OMIM:613327
Osteogenesis Imperfecta, Type Xv
Joint hypermobility, Recurrent fractures, Bowing of limbs due to multiple fractures OMIM:615220
Free Sialic Acid Storage Disease
Reduced bone mineral density, Splenomegaly, Nephrotic syndrome, Recurrent respiratory infections,... ORPHA:834
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Infertility, Flexion contracture, Primary amenorrhea, Osteopenia, Hypogonadism, Mic... ORPHA:398069
Encephalopathy Due To Sulfite Oxidase Deficiency
Short nose, Aminoaciduria ORPHA:833
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Peroxisome Biogenesis Disorder 2A (Zellweger)
Camptodactyly, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Joint contra... OMIM:214110
Frank-Ter Haar Syndrome
Osteoporosis, Wide anterior fontanel, Camptodactyly, Broad nasal tip, Cortical irregularity, Oste... OMIM:249420
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Accelerated skeletal maturation, Craniosynostosis, Radioulnar ... OMIM:245600
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Bone pain, Papillary renal cell carcinoma ORPHA:319487
Beta-Thalassemia Major
Osteoporosis, Hypochromic microcytic anemia, Hyperplasia of the maxilla, Decreased mean corpuscul... ORPHA:231214
Prader-Willi Syndrome
Osteoporosis, Infertility, Carious teeth, Oligomenorrhea, Primary amenorrhea, Hypogonadotropic hy... OMIM:176270
Farber Disease
Osteoporosis, Recurrent upper respiratory tract infections, Flexion contracture, Abnormal larynx ... ORPHA:333
Faciocardiomelic Syndrome