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Gene: Akr1a1 MGI:1929955

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

aldo-keto reductase family 1, member A1

Synonyms:

Akr1a4, 2610201A18Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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.

Human diseases associated with Akr1a1 (0 diseases)
Human diseases predicted to be associated with Akr1a1 (789 diseases)

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	Matching phenotypes	Source
Lactate Dehydrogenase B Deficiency	Reduced lactate dehydrogenase B level	OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency	Glyoxalase deficiency	OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency	Abnormal circulating enzyme concentration or activity	OMIM:125460
Alcohol Sensitivity, Acute	Reduced acetaldehyde dehydrogenase level	OMIM:610251
Mazabraud Syndrome	Fibrous dysplasia of the bones, Bone pain, Recurrent fractures	ORPHA:57782
Premature Ovarian Failure 2B	Osteoporosis, Premature ovarian insufficiency, Primary amenorrhea, Female infertility	OMIM:300604
Gnathodiaphyseal Dysplasia	Broad jaw, Osteopenia, Recurrent fractures, Mandibular osteomyelitis, Thickened cortex of long bones	ORPHA:53697
Avascular Necrosis Of Femoral Head, Primary, 1	Avascular necrosis of the capital femoral epiphysis, Generalized osteoporosis	OMIM:608805
Acatalasemia	Reduced catalase level	OMIM:614097
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Osteoporosis	OMIM:615269
Familial Hyperprolactinemia	Osteopenia, Female hypogonadism, Osteoporosis, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea	ORPHA:397685
Extensor Tendons Of Finger Anomalies	Limitation of joint mobility, Osteoporosis, Camptodactyly of finger	ORPHA:3294
Familial Expansile Osteolysis	Bone pain, Osteolysis, Hydroxyprolinuria, Pathologic fracture, Thin bony cortex	OMIM:174810
Forsythe-Wakeling Syndrome	Prominent nasal bridge, Delayed skeletal maturation, Osteoporosis, Nephrotic syndrome, Thrombocyt...	OMIM:613606
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Osteoporosis	OMIM:204730
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia	Hyposmia, Osteopenia, Osteoporosis	OMIM:615271
Hypergonadotropic Hypogonadism-Cataract Syndrome	Hypergonadotropic hypogonadism, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, D...	ORPHA:2410
Osteoporosis	Osteoporosis	OMIM:166710
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay	Osteopenia, Recurrent fractures	OMIM:619884
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Hyperostosis Corticalis Generalisata	Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp...	ORPHA:3416
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Idiopathic Hypercalciuria	Osteopenia, Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalat...	ORPHA:2197
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Osteoporosis, Osteolysis, Increased...	ORPHA:100024
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Winchester Syndrome	Osteolysis involving tarsal bones, Generalized osteoporosis, Carpal osteolysis	OMIM:277950
Ovarian Dysgenesis 1	Osteoporosis, Primary amenorrhea	OMIM:233300
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Rickets of the lower limbs	ORPHA:882
Osteopenia And Sparse Hair	Osteopenia, Joint laxity	OMIM:259690
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:2787
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia	Hypogonadism, Osteopenia, Anosmia, Osteoporosis	OMIM:615270
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia	Hypogonadism, Osteopenia, Anosmia, Osteoporosis	OMIM:615267
Monosomy 5P	Microretrognathia, Recurrent fractures, Wide nasal bridge, Joint hyperflexibility, Abnormality of...	ORPHA:281
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Recurrent fractures, Delayed epiphyseal oss...	OMIM:300009
Hypophosphatasia, Adult	Recurrent fractures, Osteomalacia, Carious teeth, Rickets, Increased susceptibility to fractures,...	OMIM:146300
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Thickened cortex of bones, Avascular necrosis, Arthritis...	ORPHA:564003
Flynn-Aird Syndrome	Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens...	OMIM:136300
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Clavicular sclerosi...	ORPHA:2790
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur...	OMIM:612287
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Concave nasal ridge, Pathologic fracture, Abnormal cortical bone mo...	ORPHA:166277
Fanconi Renotubular Syndrome 2	Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Bone pain, Ricke...	OMIM:613388
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib...	OMIM:612286
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1	Joint laxity, Wide nose, Osteoporosis, Primary amenorrhea	OMIM:616033
Hyaline Fibromatosis Syndrome	Osteopenia, Progressive flexion contractures, Flexion contracture, Osteoporosis, Osteolysis	OMIM:228600
Spastic Paraplegia-Paget Disease Of Bone Syndrome	Increased spinal bone density, Bone pain, Recurrent fractures	ORPHA:329475
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Osteoporosis	ORPHA:408
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Rickets, Aminoaciduria, Glycosu...	OMIM:615605
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Delayed skeletal maturation, Premature ovarian insufficiency, Osteoporosis	OMIM:618625
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Anosmia, Osteoporosis, Primary amenorrhea, Micropenis, Decreased test...	OMIM:614880
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Cryptorchidism, Retrognathia, Osteoporosis, Prominent nose	ORPHA:2958
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Increased susceptibility to fractures	OMIM:615066
Coronary Artery Disease, Autosomal Dominant 2	Osteoporosis, Gout	OMIM:610947
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Abn...	ORPHA:3152
Dent Disease	Delayed epiphyseal ossification, Bone pain, Nephrocalcinosis, Aminoaciduria, Low-molecular-weight...	ORPHA:1652
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Dentinogenesis imperfecta, Osteoporosis, Prominent nasal bridge	ORPHA:71267
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Osteopenia, Pathologic fracture, Bone cyst	OMIM:618193
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Anosmia, Osteoporosis, Bifid nose, Hyposmia, Micropenis, Decreased...	OMIM:614838
Prieto Syndrome	Cryptorchidism, Retrognathia, Osteoporosis, Prominent nose	OMIM:309610
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cryptorchidism, Anosmia, Osteoporosis, Primary amenorrhea, Hyposmi...	OMIM:610628
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Mandibular prognathia, Osteopenia, Recurrent fractures, Bulbous nose, Delayed skeletal maturation...	ORPHA:2324
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Osteopetrosis, Autosomal Dominant 2	Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Fractures of the long ...	OMIM:166600
Osteogenesis Imperfecta, Type Xxii	Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral density, Dentinogenesis im...	OMIM:619795
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Osteopenia, Wide nose, Recurrent fractures, Craniosynostosis, Persistence of primary teeth, Eosin...	OMIM:147060
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Hyperextensibility at e...	OMIM:610967
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Re...	OMIM:265900
Hypogonadotropic Hypogonadism 17 With Or Without Anosmia	Hyposmia, Osteopenia, Hypogonadotropic hypogonadism	OMIM:615266
Congenital Disorder Of Glycosylation, Type Iik	Joint laxity, Hemolytic-uremic syndrome, Osteoporosis, Thrombocytopenia, Amelogenesis imperfecta	OMIM:614727
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma...	OMIM:134600
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Mandibular prognathia, Osteoporosis	OMIM:619971
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, Pr...	OMIM:130060
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Chronic ...	OMIM:300554
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose	OMIM:125700
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Hall-Riggs Syndrome	Depressed nasal bridge, Anteverted nares, Prominent nose, Delayed skeletal maturation, Osteoporos...	OMIM:234250
Idiopathic Juvenile Osteoporosis	Bone pain, Osteoporosis, Recurrent fractures	ORPHA:85193
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of the urinary system, Splenomegaly, Increased bone mineral density, Abnormal cortica...	ORPHA:2204
Osteogenesis Imperfecta, Type Xix	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Dentinogenesis imperfecta, Joint hy...	OMIM:301014
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Prominent nasal bridge, Recurrent fractures, Micrognathia, Camptodactyly of ...	ORPHA:3409
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Recurrent fractures	ORPHA:417
Gorham-Stout Disease	Osteopenia, Abnormality of the temporomandibular joint, Osteomyelitis, Osteolysis involving bones...	ORPHA:73
Eiken Syndrome	Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno...	ORPHA:79106
Calvarial Doughnut Lesions With Bone Fragility	Carious teeth, Osteopenia, Osteoporosis, Recurrent fractures	OMIM:126550
Bruck Syndrome 1	Joint laxity, Hip contracture, Ankle flexion contracture, Osteoporosis, Elbow flexion contracture...	OMIM:259450
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Osteoporosis	ORPHA:2786
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Osteomyelitis, Extramedullary hematopoiesis, Recurrent fract...	OMIM:259710
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Craniofacial hyperostosis, Abnormal cortical bone morphology, Anemia	ORPHA:1802
Camptodactyly-Taurinuria Syndrome	Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger	ORPHA:1325
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria	OMIM:222690
Chondroectodermal Dysplasia With Night Blindness	Osteopenia, Micrognathia, Fractures of the long bones, Delayed skeletal maturation, Osteoporosis	ORPHA:319195
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Multiple prenatal fractures, Decreased calvarial ossification, Bowing of lim...	OMIM:259440
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormal cortical bone morphology, Osteolysis, Foot acroosteolysis, Reduced bone mineral density	ORPHA:970
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Stage 3 chronic kidney disease, Cortical sclerosis, Elevated circ...	OMIM:620366
Saccharopinuria	Citrullinuria, Hyperlysinuria, Histidinuria, Saccharopinuria	OMIM:268700
Juvenile Paget Disease	Cranial hyperostosis, Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization	ORPHA:2801
Platelet-Activating Factor Acetylhydrolase Deficiency	Platelet-activating factor acetylhydrolase deficiency	OMIM:614278
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Generalized bone demineralizati...	OMIM:600785
Warburg Micro Syndrome 1	Anteverted nares, Micrognathia, Cryptorchidism, Osteoporosis, Wide nasal bridge, Joint hypermobility	OMIM:600118
Paget Disease Of Bone 2, Early-Onset	Fractures of the long bones, Bone pain, Osteolysis, Increased susceptibility to fractures, Sclero...	OMIM:602080
Perrault Syndrome 1	Osteoporosis, Primary amenorrhea	OMIM:233400
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Decreased calvarial ossification, Bowing of limbs due to multiple fr...	OMIM:259410
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating...	OMIM:179800
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Depressed nasal bridge, Osteoporosis	OMIM:612463
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Delayed skeletal maturation, Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:617974
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Hypogonadotropic hypogonadism, Camptodactyly of finger, Osteoporosis, Micrognathia	ORPHA:48431
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Osteopenia, Osteoporosis, Abnormality of the kidney, Proteinuria	ORPHA:369
Ck Syndrome	Prominent nasal bridge, Micrognathia, Retrognathia, Abnormal cortical bone morphology, Joint hype...	OMIM:300831
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Osteopenia, Proteinuria, Avascular necrosis of the capital femoral epiphysis, Delayed skeletal ma...	OMIM:611555
Albers-Schönberg Osteopetrosis	Abnormal leukocyte morphology, Osteomyelitis, Recurrent fractures, Carious teeth, Generalized ost...	ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pa...	OMIM:264700
Variant Abeta2M Amyloidosis	Multiple bony cystic lesions, Chronic kidney disease, Wrist pain, Renal amyloidosis, Pathologic f...	ORPHA:314652
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Recurrent fractures, Joint hypermobility, Micrognathia, Wide nasal bridge, Generali...	OMIM:617952
Hyperprolinemia, Type Ii	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239510
Hjv Or Hamp-Related Hemochromatosis	Impotence, Hypogonadism, Osteoporosis	ORPHA:79230
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Recurrent fractures, Limitation of joint mobility, Micrognathia	ORPHA:1486
Osteopetrosis, Autosomal Dominant 3	Osteopenia, Splenomegaly, Recurrent fractures, Anemia	OMIM:618107
Majeed Syndrome	Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Congenital hypoplasti...	ORPHA:77297
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Osteoporosis, Joint laxity, Increased susceptibility to fractures	ORPHA:2788
Camptodactyly 1	Increased urinary taurine, Camptodactyly of finger	OMIM:114200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Osteomalacia, Bone pain, Nephrolithiasis, Hypercalciuria, Reduced bone mineral...	ORPHA:157215
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Bone pain, Gen...	ORPHA:289157
Mycetoma	Osteomyelitis, Bone cyst, Osteoporosis, Painless fractures due to injury, Pathologic fracture, Ab...	ORPHA:2583
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Hypophosphatemic rickets,...	OMIM:618913
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly, Anemia, Osteo...	OMIM:611490
Marshall-Smith Syndrome	Anteverted nares, Choanal atresia, Craniosynostosis, Accelerated skeletal maturation, Reduced bon...	ORPHA:561
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:242600
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Depressed nasal bridge, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstr...	ORPHA:432
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypogonadotropic hypogonadism, Recurrent fractures, Delayed skeletal maturation, Osteoporosis, De...	ORPHA:2235
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain...	OMIM:241530
Bruck Syndrome	Arthrogryposis multiplex congenita, Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:2771
Congenital Bile Acid Synthesis Defect Type 1	Splenomegaly, Osteoporosis	ORPHA:79301
Cranioectodermal Dysplasia	Anteverted nares, Abnormal dental enamel morphology, Craniosynostosis, Osteoporosis, Joint hyperf...	ORPHA:1515
Iminoglycinuria	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	ORPHA:42062
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffnes...	ORPHA:2635
Caffey Disease	Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase...	ORPHA:1310
Achondrogenesis Type 1A	Anteverted nares, Recurrent fractures, Abnormal enchondral ossification, Micrognathia, Short nose	ORPHA:93299
Indolent Systemic Mastocytosis	Splenomegaly, Osteoporosis, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal mast...	ORPHA:98848
Sialidosis Type 2	Splenomegaly, Nephropathy, Flexion contracture, Osteoporosis	ORPHA:87876
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Anteverted nares, Osteoporosis, Broad nasal tip	ORPHA:529665
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth...	ORPHA:79239
Osteogenesis Imperfecta, Type Iv	Recurrent fractures, Increased susceptibility to fractures, Reduced bone mineral density, Bowing ...	OMIM:166220
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis	OMIM:618234
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Prominent nasal bridge, Anisocytosis, Micrognathia, Flexion contracture, Renal hypoplasia, Lactic...	OMIM:604273
Metaphyseal Chondrodysplasia, Spahr Type	Carious teeth, Delayed skeletal maturation, Reduced bone mineral density	ORPHA:2501
Oocyte/Zygote/Embryo Maturation Arrest 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Depressed nasal bridge, Osteoporosis, Camptodactyly	OMIM:616006
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Rickets, Nephrocalcinosis, Aminoaciduria, Glycosuria	OMIM:616026
Osteosarcoma	Pathologic fracture, Osteolysis	ORPHA:668
Grant Syndrome	Depressed nasal bridge, Micrognathia, Decreased skull ossification, Joint hyperflexibility, Abnor...	ORPHA:2097
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Osteomalacia, Hypocitraturia, Bone pain, Rickets, Renal cyst...	ORPHA:18
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Premature Aging Syndrome, Okamoto Type	Depressed nasal bridge, Osteoporosis	OMIM:601811
Hypocalcemic Vitamin D-Resistant Rickets	Osteomalacia, Recurrent fractures, Bone cyst, Bone pain, Osteolysis, Nephrolithiasis, Abnormal bo...	ORPHA:93160
Hypertryptophanemia	Generalized joint laxity, Limited elbow extension, Camptodactyly of finger, Tryptophanuria	OMIM:600627
Thrombocytopenia 6	Myelofibrosis, Spontaneous, recurrent epistaxis, Osteoporosis, Thrombocytopenia	OMIM:616937
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Pancytopenia, Proteinuria, Hypersplenism, Thrombocyto...	ORPHA:77259
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Renal insufficiency, Proteinuria, Micrognathia, Hypoplasia of the maxilla, Stage 5 ch...	OMIM:166300
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria, Premature ovarian insufficiency	ORPHA:2278
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Dentinogene...	OMIM:610968
Dentin Dysplasia With Sclerotic Bones	Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis	OMIM:125440
Richards-Rundle Syndrome	Joint stiffness, Ketonuria, Hypergonadotropic hypogonadism, Reduced bone mineral density	ORPHA:1399
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de...	ORPHA:1782
Familial Isolated Hyperparathyroidism	Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Nephrocalcinosis, Generalized...	ORPHA:99879
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Prominent nasal bridge, Prominent nose, Carious teeth, Micrognathia, C...	OMIM:214150
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Joint hypermobility, Hypospadias, Agenesis of molar, S...	OMIM:619718
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Abnormal cortical bone morphology, Unilateral renal agenesis	ORPHA:2512
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Bone pain, Osteoporosis, Osteolysis,...	ORPHA:98850
Ovarian Dysgenesis 8	Osteoporosis, Primary amenorrhea	OMIM:618187
Endosteal Hyperostosis, Autosomal Dominant	Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosi...	OMIM:144750
Cranio-Osteoarthropathy	Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness	ORPHA:1525
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Osteolysis, Increased susceptibility to fractures, Calvarial hyperostosis, Pathologic fracture, U...	ORPHA:52430
Solitary Bone Cyst	Pathologic fracture, Bone pain, Unicameral bone cyst	ORPHA:83468
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Recurrent fractures, Delayed epiphyseal ossification, Rickets, Bone pain, Sparse bone trabeculae,...	OMIM:600081
Hypercholanemia, Familial, 2	Osteopenia	OMIM:619256
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Multiple Enchondromatosis, Maffucci Type	Pathologic fracture	OMIM:614569
Beta-Thalassemia Intermedia	Osteopenia, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate product...	ORPHA:231222
Oocyte/Zygote/Embryo Maturation Arrest 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 14	Oocyte maturation arrest, Female infertility	OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5	Lack of oocyte pronucleus formation, Female infertility	OMIM:617996
Congenital Disorder Of Glycosylation, Type Iiy	Delayed skeletal maturation, Reduced bone mineral density	OMIM:620200
Analbuminemia	Osteoporosis	OMIM:616000
Ruijs-Aalfs Syndrome	Prominent nasal bridge, Micrognathia, Bulbous nose, Delayed skeletal maturation, Osteoporosis, El...	OMIM:616200
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Subperiosteal bone formation,...	OMIM:114000
Cystinosis	Renal insufficiency, Proteinuria, Rickets, Renal tubular dysfunction, Aminoaciduria, Nephropathy	ORPHA:213
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Recurrent fractures	ORPHA:2773
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Pathologic fracture, Bone cyst, Urinary incontinence	OMIM:221770
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Depressed nasal bridge, Osteoporosis, Subcutaneous ossification, Hypog...	OMIM:103580
Hyperprolinemia, Type I	Hydroxyprolinuria, Hyperglycinuria, Prolinuria	OMIM:239500
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Premature Ovarian Failure 19	Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility	OMIM:619245
Perrault Syndrome 4	Premature ovarian insufficiency, Osteoporosis, Primary amenorrhea, Secondary amenorrhea, Hypoplas...	OMIM:615300
Amish Lethal Microcephaly	Micrognathia, Limitation of joint mobility, Osteoporosis, Organic aciduria, Decreased skull ossif...	ORPHA:99742
Glutamate Formiminotransferase Deficiency	Hypersegmentation of neutrophil nuclei, Aminoaciduria, Elevated urinary formiminoglutamic acid le...	OMIM:229100
Cole-Carpenter Syndrome 1	Osteopenia, Recurrent fractures, Micrognathia, Reduced bone mineral density, Coronal craniosynost...	OMIM:112240
Primary Fanconi Renotubular Syndrome	Osteomalacia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bone pain, Bic...	ORPHA:3337
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Proteus Syndrome	Depressed nasal bridge, Splenomegaly, Mandibular hyperostosis, Calvarial hyperostosis, Facial hyp...	OMIM:176920
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased urine deoxypyridinoline level, Increased bone mineral density, Recurrent fr...	OMIM:239000
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Recurrent fractures, Carious teeth, Delayed epiphyseal ossification, R...	OMIM:277440
Hutchinson-Gilford Progeria Syndrome	Osteolysis, Generalized osteoporosis, Micrognathia	OMIM:176670
Tenosynovial Giant Cell Tumor	Limitation of joint mobility, Localized osteoporosis, Osteolysis, Joint stiffness	ORPHA:66627
Osteogenesis Imperfecta, Type Xiii	Increased bone mineral density, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Red...	OMIM:614856
Oncogenic Osteomalacia	Hyperphosphaturia, Fibrous dysplasia of the bones, Bone pain, Increased susceptibility to fractur...	ORPHA:352540
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Persistence of primary teeth, Supernumerary tooth, Recurrent upp...	OMIM:619752
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Recurrent fractures, Joint hypermobility, Reduced bone mineral density	OMIM:619115
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Delayed ossification of carpal bones, Reduced bone mineral density	OMIM:618392
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Depressed nasal bridge, Osteoporosis, Hypogonadism, Low urinary cyclic...	OMIM:612462
Stimmler Syndrome	Aminoaciduria, Abnormal dental enamel morphology	ORPHA:3199
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria, Depressed nasal bridge	OMIM:249650
Osteogenesis Imperfecta, Type Xxi	Osteoporosis, Recurrent fractures, Joint hypermobility	OMIM:619131
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Recurrent fractures, Rickets, Stage 5 chronic kidney disease, Renal Fanconi syndrome, Glycosuria	OMIM:268315
Osteogenesis Imperfecta, Type I	Osteopenia, Recurrent fractures, Increased susceptibility to fractures, Finger joint hypermobilit...	OMIM:166200
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Cryptorchidism, Osteoporosis, Male hypogonadism, Joint contracture, Convex nasal ridge	OMIM:615381
Geroderma Osteodysplasticum	Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, ...	OMIM:231070
Lowry-Maclean Syndrome	Osteopenia, Hypospadias, Choanal atresia, Delayed eruption of primary teeth, Micrognathia, Hypopl...	ORPHA:2409
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Osteopenia, Reduced bone mineral density	OMIM:619489
Hypophosphatasia, Infantile	Elevated urine pyrophosphate, Craniosynostosis, Hypercalciuria, Increased susceptibility to fract...	OMIM:241500
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Epiphyseal Chondrodysplasia, Miura Type	Osteopenia, Increased urinary type 1 collagen N-terminal telopeptide level	OMIM:615923
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Rhyns Syndrome	Osteopenia, Renal insufficiency, Delayed skeletal maturation, Chronic kidney disease, Osteoporosi...	OMIM:602152
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Prominent nose, Long nose, Carious teeth, Bulbous nos...	ORPHA:2769
Spondyloepimetaphyseal Dysplasia, Irapa Type	Osteoarthritis, Limitation of joint mobility, Osteoporosis, Synostosis of carpal bones	ORPHA:93351
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Mandibular pain, Osteopetrosis, Calvarial osteosclerosis, Thickened c...	OMIM:607634
Osteopetrosis, Autosomal Recessive 1	Increased bone mineral density, Osteomyelitis, Pancytopenia, Craniosynostosis, Carious teeth, Thr...	OMIM:259700
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Depressed nasal bridge, Hypospadias, Craniosynostosis, Cryptorchidism, Delayed skelet...	OMIM:614732
Geroderma Osteodysplastica	Mandibular prognathia, Recurrent fractures, Osteoporosis, Joint hyperflexibility, Abnormal bone o...	ORPHA:2078
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Camptodactyly of finger, Knee osteoarthritis, Bone cyst, Osteoporosis, Camptodactyly of toe, Oste...	ORPHA:2848
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Recurrent fractures, Reduced bone mineral density	ORPHA:137608
Fanconi-Bickel Syndrome	Osteopenia, Hyperphosphaturia, Rickets, Hypercalciuria, Generalized aminoaciduria, Nephrocalcinos...	ORPHA:2088
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Depressed nasal bridge, Osteomalacia, Micrognathia, Joint stiffness, Avascular necros...	ORPHA:1901
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Recurrent urinary tract infections, Joint stiffness, Splenomegal...	OMIM:620210
Galactosemia Iii	Splenomegaly, Aminoaciduria, Galactosuria	OMIM:230350
Propionic Acidemia	Pancytopenia, Increased level of hippuric acid in urine, Osteoporosis, Hyperglycinuria, Anemia, N...	OMIM:606054
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, A...	ORPHA:289176
Retinal Dystrophy And Microvillus Inclusion Disease	Osteopenia, Recurrent upper respiratory tract infections	OMIM:619446
Maffucci Syndrome	Bone pain, Recurrent fractures, Osteolysis	ORPHA:163634
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Hyperphosphaturia, Choanal atresia, Micrognathia, Hypercalciuria, Kn...	OMIM:156400
Lysinuric Protein Intolerance	Recurrent fractures, Thrombocytopenia, Delayed skeletal maturation, Splenomegaly, Osteoporosis, S...	OMIM:222700
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Recurrent fractures, Micrognathia, Wrist flexion con...	OMIM:609465
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Pancytopenia, Hyperphosphaturia, Osteomalacia, Monostotic fibrou...	ORPHA:562
Hyperzincemia With Functional Zinc Depletion	Osteoporosis	OMIM:601979
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Osteoporosis, Polyuria, Rickets	OMIM:560000
Pycnodysostosis	Joint laxity, Obtuse angle of mandible, Increased bone mineral density, Delayed eruption of prima...	ORPHA:763
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Methioninuria, Limitation of joint mobility, Osteoporosis, Homocystinuria, Generalized osteoporosis	OMIM:236200
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Short nose, Reduced bone mineral density	ORPHA:2370
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Osteolysis involving bones of the upper limbs, Osteoporosis, Osteolysis, Osteolysis i...	ORPHA:371428
Hemochromatosis, Type 1	Hypogonadotropic hypogonadism, Splenomegaly, Osteoporosis, Azoospermia, Impotence, Testicular atr...	OMIM:235200
Progressive Pseudorheumatoid Dysplasia	Camptodactyly of finger, Joint stiffness, Osteoarthritis, Osteoporosis, Joint contracture of the ...	OMIM:208230
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Osteopenia, Decreased female libido, Abnormality of the menstrual c...	ORPHA:91348
Immunodeficiency 12	Abnormal lymphocyte count, Delayed skeletal maturation, Osteoporosis, Absent isohemagglutinin lev...	OMIM:615468
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia, Delayed skeletal maturation, Osteoporosis, Concave nasal...	ORPHA:73272
Infantile Systemic Hyalinosis	Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Osteopor...	ORPHA:2176
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Threoninemia	Hyperthreoninuria	OMIM:273770
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Anteverted nares, Fractured radius, Hypospadias, Micrognathia, Multiple prenatal frac...	OMIM:616897
Odontochondrodysplasia 1	Delayed eruption of teeth, Osteoporosis, Delayed ossification of carpal bones, Nephronophthisis, ...	OMIM:184260
Hyperprolactinemia	Menorrhagia, Oligomenorrhea, Female infertility	OMIM:615555
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Hyperlysinemia, Type I	Hyperlysinuria, Anemia	OMIM:238700
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Ureteral stenosis, Depressed nasal bridge, Anteverted nares, Hydroureter, Delayed ske...	OMIM:615398
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os...	OMIM:112250
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Kallmann Syndrome	Dyspareunia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Recurrent fractures, Renal agene...	ORPHA:478
Spinal muscular atrophy, type I, with congenital bone fractures	Osteopenia, Flexion contracture, Multiple prenatal fractures	OMIM:271225
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Osteopenia, Hypergonadotropic hypogonadism, Femal...	ORPHA:91
Carnosinemia	Carnosinuria	OMIM:212200
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Mucolipidosis Type Iii	Craniofacial hyperostosis, Joint stiffness, Reduced bone mineral density	ORPHA:577
Peroxisome Biogenesis Disorder 3B	Depressed nasal ridge, Osteoporosis	OMIM:266510
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Eosi...	ORPHA:2314
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Proteinuria, Osteomalacia, Rickets, Hypercalciuria, Generalized ami...	OMIM:227810
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Osteoporosis	OMIM:615954
Multicentric Osteolysis, Nodulosis, And Arthropathy	Delayed eruption of teeth, Narrow nasal bridge, Osteopenia, Hip contracture, Interphalangeal join...	OMIM:259600
Gaucher Disease Type 3	Increased bone mineral density, Pancytopenia, Proteinuria, Thrombocytopenia, Delayed skeletal mat...	ORPHA:77261
Cantu Syndrome	Depressed nasal bridge, Anteverted nares, Delayed skeletal maturation, Osteoporosis, Wide nasal b...	OMIM:239850
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis	OMIM:260005
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Sea-blue histiocytosis	OMIM:257200
Morgagni-Stewart-Morel Syndrome	Hyperostosis frontalis interna, Osteoarthritis, Osteoporosis	ORPHA:77296
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose, Aminoaciduria	ORPHA:833
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Abno...	ORPHA:2909
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Generalized b...	OMIM:215250
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Delayed skeletal maturation, Reduced bone mineral density	ORPHA:172
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Choanal atresia, Osteoporosis, Horseshoe kidney, Increased mean co...	OMIM:612562
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a...	ORPHA:47159
Hyper-Beta-Alaninemia	Increased urinary taurine	OMIM:237400
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Hyperphosphaturia, Recurrent fractures, Horseshoe kidney...	OMIM:163200
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Recurrent fractures, Osteoporosis, Reduced bone mineral density, Dentinogenesis imp...	OMIM:616507
Galactose Epimerase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:79238
Primary Hyperoxaluria	Hyperoxaluria, Recurrent fractures, Aciduria, Calcium oxalate nephrolithiasis, Generalized osteos...	ORPHA:416
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Cystathioninuria	Cystathioninuria	OMIM:219500
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18	Female infertility	OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19	Female infertility	OMIM:620333
Phenylketonuria	Aminoaciduria	ORPHA:716
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Prolactinoma	Osteopenia, Dyspareunia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonad...	ORPHA:2965
Camurati-Engelmann Disease, Type 2	Osteopenia, Hip contracture, Knee flexion contracture, Hyperostosis, Hypogonadism, Lower limb pain	OMIM:606631
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Osteoporosis of vertebrae, Convex nasal ridge	OMIM:156510
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Hypogonadotropic hypogonadism, Renal agenesis, Partial anosmia, Total anosmia, Bilate...	ORPHA:2326
Werner Syndrome	Elevated hemoglobin A1c, Osteoporosis, Reduced bone mineral density, Hypogonadism, Convex nasal r...	OMIM:277700
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Short nose	OMIM:615851
Cole-Carpenter Syndrome 2	Microretrognathia, Osteopenia, Recurrent fractures, Lambdoidal craniosynostosis, Coronal craniosy...	OMIM:616294
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Urinary incontinence, Recurrent fractures	OMIM:620368
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Homocarnosinosis	Carnosinuria	OMIM:236130
Alkaptonuria	Joint stiffness, Abnormality of the nose, Osteoarthritis, Nephrolithiasis, Reduced bone mineral d...	ORPHA:56
Hydroxykynureninuria	Aminoaciduria	OMIM:236800
Antley-Bixler Syndrome	Anteverted nares, Choanal atresia, Craniosynostosis, Recurrent fractures, Joint stiffness, Campto...	ORPHA:83
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Symmetric polyarthritis, Limitation of joint mobility, Synovitis, Reduced bone minera...	ORPHA:85435
Galactosemia I	Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Aminoaciduria,...	OMIM:230400
Glutamate-Cysteine Ligase Deficiency	Hepatosplenomegaly, Hemolytic anemia, Aminoaciduria, Reticulocytosis	ORPHA:33574
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Delayed skeletal maturation, Anosmia, ...	OMIM:614837
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M...	OMIM:224300
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Increased urinary cortisol level, Osteoporosis, Secondary amenorrhea	OMIM:610489
Seizures-Scoliosis-Macrocephaly Syndrome	Cryptorchidism, Bulbous nose, Abnormality of the kidney, Reduced bone mineral density	ORPHA:466926
Female Infertility Due To Oocyte Meiotic Arrest	Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility	ORPHA:488191
Multiple Myeloma	Osteopenia, Increased circulating IgA level, Splenomegaly, Nephropathy, Bone pain, Elevated circu...	ORPHA:29073
Estrogen Resistance Syndrome	Osteopenia, Delayed epiphyseal ossification, Osteoporosis, Primary amenorrhea, Marked delay in bo...	ORPHA:785
19P13.3 Microduplication Syndrome	Unilateral cryptorchidism, Underdeveloped nasal alae, Prominent nose, Micrognathia, Osteoporosis	ORPHA:447980
Post-Traumatic Pituitary Deficiency	Osteopenia, Hypogonadotropic hypogonadism, Delayed skeletal maturation, Infertility, Osteoporosis...	ORPHA:95619
Schindler Disease, Type I	Osteopenia, Increased urinary O-linked sialopeptides	OMIM:609241
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria	OMIM:236250
Hypophosphatasia	Anemia, Recurrent fractures, Craniosynostosis	ORPHA:436
Glutathione Synthetase Deficiency	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine, Neutropenia	OMIM:266130
Nail-Patella Syndrome	Flexion contracture, Knee flexion contracture, Reduced bone mineral density, Nephritis, Limited p...	ORPHA:2614
Pigmented Nodular Adrenocortical Disease, Primary, 4	Osteopenia, Osteoporosis	OMIM:615830
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Osteopenia, Recurrent fractures, Decreased calvarial ossification, Joint hyper...	OMIM:616229
Gracile Syndrome	Aminoaciduria	OMIM:603358
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Hypophosphatemic Rickets, Autosomal Dominant	Osteomalacia, Bone pain, Rickets, Renal phosphate wasting, Hypophosphatemic rickets	OMIM:193100
Ehlers-Danlos Syndrome, Classic-Like, 2	Osteopenia, Micrognathia, Cryptorchidism, Osteoarthritis, Generalized joint laxity, Osteoporosis,...	OMIM:618000
Nasu-Hakola Disease	Bone cyst, Bone pain, Limitation of joint mobility, Acute leukemia, Reduced bone mineral density	ORPHA:2770
Menkes Disease	Joint laxity, Osteoporosis	OMIM:309400
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Osteoporosis, Leukopenia, Bone marrow hypocell...	OMIM:613989
Osteogenesis Imperfecta, Type Ii	Absent ossification of calvaria, Recurrent fractures, Convex nasal ridge, Multiple prenatal fract...	OMIM:166210
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Osteoporosis, Increas...	ORPHA:2169
Congenital Disorder Of Glycosylation, Type Ir	Osteopenia, Accelerated skeletal maturation	OMIM:614507
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontane...	OMIM:610915
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Limited elbow movement, Micrognathia, Joint stiffness, Flexion contracture, De...	OMIM:614008
Valinemia	Valinuria	OMIM:277100
Mccune-Albright Syndrome	Craniofacial hyperostosis, Polyostotic fibrous dysplasia, Pathologic fracture	OMIM:174800
46,Xx Gonadal Dysgenesis	Osteopenia, Streak ovary, Premature ovarian insufficiency, Delayed skeletal maturation, Decreased...	ORPHA:243
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Generalized aminoaciduria	OMIM:606528
Schwartz-Jampel Syndrome, Type 1	Hip contracture, Shoulder flexion contracture, Micrognathia, Delayed skeletal maturation, Osteopo...	OMIM:255800
Paget Disease Of Bone 3	Fractures of the long bones, Bone pain, Osteolysis, Patchy osteosclerosis	OMIM:167250
Spondylo-Ocular Syndrome	Joint hyperflexibility, Osteoporosis	ORPHA:85194
Desbuquois Dysplasia 1	Microretrognathia, Joint laxity, Depressed nasal bridge, Osteoarthritis, Osteoporosis, Advanced o...	OMIM:251450
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Localized osteoporosis, Lower limb pain	ORPHA:199354
Dyskeratosis Congenita, Autosomal Dominant 3	Urethral stricture, Pancytopenia, Aplastic anemia, Avascular necrosis of the capital femoral epip...	OMIM:613990
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Joint laxity, Grayish enamel, Carious teeth, Recurrent upper respiratory t...	OMIM:253000
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Anteverted nares, Prominent nasal...	OMIM:309583
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria	OMIM:615158
Shashi-Pena Syndrome	Unilateral renal agenesis, Accelerated skeletal maturation, Broad nasal tip, Osteoporosis, Cervic...	OMIM:617190
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Hemolytic anemia, Increased level of L-pyroglutamic acid in urine	OMIM:231900
Dermotrichic Syndrome	Short nose, Aminoaciduria, Depressed nasal bridge, Anemia	ORPHA:99688
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Joint laxity, Grayish enamel, Carious teeth, Joint stiffness, Recurrent up...	OMIM:253010
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Rickets, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Gl...	ORPHA:411629
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Abnormal dental enamel ...	ORPHA:1452
Cutis Laxa, Autosomal Recessive, Type Iiib	Osteopenia, Narrow nasal ridge, Underdeveloped nasal alae, Cryptorchidism, Flexion contracture, O...	OMIM:614438
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Irregular menstruation, Osteoporosis, Nephrolithiasis, Increase...	ORPHA:189427
Paget Disease Of Bone 6	Nephrocalcinosis, Osteoarthritis, Bone pain, Recurrent fractures	OMIM:616833
H Syndrome	Histiocytosis, Recurrent fractures, Abnormality of the kidney, Microcytic anemia, Recurrent phary...	ORPHA:168569
Symptomatic Form Of Hfe-Related Hemochromatosis	Hypogonadotropic hypogonadism, Joint stiffness, Splenomegaly, Osteoporosis, Arthritis, Infertilit...	ORPHA:465508
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Wide anterior...	ORPHA:85184
Hyperparathyroidism 4	Osteopenia, Nephrolithiasis	OMIM:617343
X Small Rings	Joint laxity, Premature ovarian insufficiency, Anteverted nares, Fetal pyelectasis, Osteoporosis,...	ORPHA:96201
Pachydermoperiostosis	Osteomyelitis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Osteolysis, Bone pain, A...	ORPHA:2796
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Osteolytic defects of the pha...	ORPHA:2484
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Limitation of joint mobility, Osteoporosis, Osteolytic defects of the phalanges of th...	OMIM:259100
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I...	OMIM:603585
Fibrous Dysplasia Of Bone	Thin bony cortex, Osteomalacia, Testicular neoplasm, Fibrous dysplasia of the bones, Rickets, Abn...	ORPHA:249
Dent Disease 2	Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo...	OMIM:300555
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Decreased testicular size, Osteopenia, Wide nose, Prominent nasal bridge, Micrognathia, Cryptorch...	ORPHA:251028
Hyperparathyroidism, Transient Neonatal	Osteopenia, Depressed nasal bridge, Anteverted nares, Recurrent fractures, Unilateral renal agene...	OMIM:618188
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Recurrent fractures, Abnormal dental ename...	ORPHA:251004
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Advanced ossification of carpal bones, Increased susceptibility to frac...	OMIM:615349
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM, Osteopetrosis...	OMIM:612301
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Aminoaciduria, Lacticaciduria	OMIM:619386
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Aplasia of the nasal bone, Flexion contracture of finger, Prominent na...	OMIM:601812
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Carious teeth, Cryptorchidism, Reduced bone mineral density, Convex nasal ridge	ORPHA:2617
Macs Syndrome	Joint laxity, Hypergonadotropic hypogonadism, Micrognathia, Cryptorchidism, Urethral stenosis, Os...	OMIM:613075
Wilson Disease	Hemolytic anemia, Hyperphosphaturia, Proteinuria, Osteomalacia, Thrombocytopenia, Osteoarthritis,...	OMIM:277900
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Osteoporosis	OMIM:219080
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Osteopenia, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal ...	OMIM:617913
Xp21 Deletion Syndrome	Joint laxity, Hypogonadotropic hypogonadism, Osteoporosis, Reduced bone mineral density	ORPHA:261476
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Osteoporosis	OMIM:610475
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Osteoporosis, Rickets, Iron deficiency anemia, Infertility, Thrombocytosis, En...	OMIM:212750
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Osteomalacia, Camptodactyly of finger, Cryptorchidism, Ri...	OMIM:309000
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu...	OMIM:618849
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Osteopenia, Proteinuria, Epistaxis, Chronic neutropenia, Carious teeth, Irregular menstruation, O...	ORPHA:79259
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Depressed nasal bridge, Anteverted nares, Bulbous nose, M...	OMIM:614105
Werner Syndrome	Renal neoplasm, Increased bone mineral density, Joint stiffness, Osteoporosis, Decreased fertilit...	ORPHA:902
Spondylometaphyseal Dysplasia, Pagnamenta Type	Delayed skeletal maturation, Thin bony cortex	OMIM:619638
Lysinuric Protein Intolerance	Osteopenia, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis, Decreased glomerular filtra...	ORPHA:470
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Splenomegaly, Delayed skeletal maturation, Incr...	ORPHA:812
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias...	OMIM:259900
Cystinosis, Nephropathic	Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, De...	OMIM:219800
Adamantinoma	Pathologic fracture, Bone pain	ORPHA:55881
Porphyria, Congenital Erythropoietic	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Red urine, Osteolysis, Pathologic frac...	OMIM:263700
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy	OMIM:612075
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Sulfocysteinuria, Decreased urinary sulfate, Increased urinary sulfite...	OMIM:272300
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Osteopenia, Allergic rhinitis, Anemia of inadequate production, Carious teeth, Splenomegaly, Dela...	OMIM:612714
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Multiple joint contr...	ORPHA:2959
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Splenomegaly, Irregular menstruation, Osteoporosis, Renal tubular acidosis, Oligome...	ORPHA:79240
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Depressed nasal bridge, Anemia, Aminoaciduria, Bone marrow hypocellularity, Neutropeni...	OMIM:614520
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Ar...	OMIM:613404
Osteootohepatoenteric Syndrome	Proteinuria, Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Grade II v...	OMIM:619377
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Osteoporosis, Bone marrow hypocellularity, Thromboc...	OMIM:224230
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Choanal atresia, Cryptorchidism, Anosmia, Primary amen...	OMIM:147950
Oocyte/Zygote/Embryo Maturation Arrest 17	Female infertility, Amenorrhea	OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20	Female infertility, Amenorrhea	OMIM:620383
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Depressed nasal bridge, Anteverted ...	OMIM:166250
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria	OMIM:609560
Multiple Mitochondrial Dysfunctions Syndrome 3	Arthrogryposis multiplex congenita, Beta-aminoisobutyric aciduria, Retrognathia	OMIM:615330
Sim1-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Pri...	ORPHA:398079
Hsd10 Disease	Elevated urinary 3-hydroxybutyric acid, Abnormal urinary acylglycine profile	ORPHA:391417
Coxoauricular Syndrome	Reduced bone mineral density	ORPHA:1508
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Increased urina...	ORPHA:85188
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Slender nose, Osteopenia, Abnormal trabecular bone morphology, Aplasti...	ORPHA:221016
Peroxisome Biogenesis Disorder 1A (Zellweger)	Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism, Delayed skeletal maturation, Wide an...	OMIM:214100
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Thrombocytopenia, Osteoporosis, Increased susceptibility to fractures, Bone marrow hy...	OMIM:612199
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Increased bone mineral density, Osteoarthritis of the distal inter...	ORPHA:93284
Mohr-Tranebjaerg Syndrome	Increased susceptibility to fractures	OMIM:304700
Adrenomyodystrophy	Delayed skeletal maturation, Abnormality of the urinary system, Megacystis, Reduced bone mineral ...	ORPHA:977
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruation, Osteoporos...	ORPHA:264580
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Limited elbow movement, Micrognathia, Osteoporosis, Reduced bone m...	ORPHA:94068
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency, Depressed nasal bridge, Osteoporosis, Ivory epiphyses of the phalanges of th...	OMIM:226980
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Reduced bone mineral density, Hypogonadism, Short nose, Spina bifida occulta	ORPHA:2983
Hereditary Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Splenomegaly, Abnormality of the ureter, Wide...	ORPHA:30
Stüve-Wiedemann Syndrome	Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Trismus,...	ORPHA:3206
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Micrognathia, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tubular...	OMIM:208085
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Aminoaciduria, Th...	OMIM:249270
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Prominent nose, Wide anterior fontanel, Wide nasal bridge, Renal tu...	OMIM:614886
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Premature ovarian ins...	ORPHA:221008
Dysplasia Epiphysealis Hemimelica	Tarsal synostosis, Recurrent fractures, Accelerated skeletal maturation, Joint stiffness, Osteoar...	ORPHA:1822
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Increased urine succinate level, Elevated urin...	OMIM:618384
Sapho Syndrome	Osteomyelitis, Recurrent fractures, Craniofacial osteosclerosis, Bone pain, Osteolysis, Synovitis...	ORPHA:793
Congenital Myopathy 22A, Classic	Hip contracture, Micrognathia, Achilles tendon contracture, Osteoporosis, Wide nasal bridge, Cong...	OMIM:620351
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Carious teeth, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpus...	OMIM:127550
2P21 Microdeletion Syndrome	Hypogonadism, Depressed nasal bridge, Nephrolithiasis, Cystinuria	ORPHA:163693
Pituitary Adenoma 4, Acth-Secreting	Nephrolithiasis, Osteoporosis, Oligomenorrhea	OMIM:219090
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria	ORPHA:147
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Hypergonadotropic hypogonadism, Dysmenorrhea, Hypospadias, Decreased fertility in females, Crypto...	ORPHA:90796
Lipoyltransferase 1 Deficiency	Alaninuria, Hyperglutaminuria, Lacticaciduria	OMIM:616299
Saccharopinuria	Citrullinuria, Hyperlysinuria, Cystinuria	ORPHA:3124
Brittle Cornea Syndrome	Joint hyperflexibility, Osteoporosis, Camptodactyly, Increased susceptibility to fractures	ORPHA:90354
Glycogen Storage Disease Ia	Proteinuria, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Enlarged ki...	OMIM:232200
Intermediate Nemaline Myopathy	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	ORPHA:171433
Free Sialic Acid Storage Disease	Splenomegaly, Nephrotic syndrome, Proteinuria, Reduced bone mineral density	ORPHA:834
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micrognathia, Trismus, Flexion contracture, Depressed nasal ridge, Oste...	ORPHA:2671
Glycogen Storage Disease Ib	Proteinuria, Splenomegaly, Osteoporosis, Nephrolithiasis, Gout, Focal segmental glomerulosclerosi...	OMIM:232220
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th...	OMIM:300998
Axial Osteomalacia	Increased bone mineral density, Osteomalacia, Renal cyst	OMIM:109130
Prader-Willi Syndrome	Narrow nasal bridge, Osteopenia, Cryptorchidism, Osteoporosis, Primary amenorrhea, Increased susc...	ORPHA:739
Cantú Syndrome	Anteverted nares, Accelerated skeletal maturation, Delayed skeletal maturation, Osteoporosis, Wid...	ORPHA:1517
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchi...	ORPHA:2232
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Wide nose, Anteverted nares, Hypospadias, Micrognathia, Cryptorchidism,...	OMIM:102500
Histidinuria-Renal Tubular Defect Syndrome	Impaired histidine renal tubular absorption, Histidinuria, Delayed skeletal maturation, Wide nasa...	ORPHA:2158
Grange Syndrome	Increased susceptibility to fractures	ORPHA:79094
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Increased urinary type 1 collagen N-terminal telopeptide level, Avascular necro...	ORPHA:93315
Hyperlysinuria With Hyperammonemia	Dibasicaminoaciduria, Hyperlysinuria	OMIM:238750
Hyperparathyroidism, Neonatal Severe	Hyperphosphaturia, Recurrent fractures, Polyuria, Splenomegaly, Hypercalciuria, Aminoaciduria, An...	OMIM:239200
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Osteoporo...	OMIM:619487
Rin2 Syndrome	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Increased suscep...	ORPHA:217335
Hepatoerythropoietic Porphyria	Osteopenia, Hemolytic anemia, Erythrodontia, Splenomegaly, Osteoporosis, Osteolysis, Red-brown ur...	ORPHA:95159
Hamamy Syndrome	Osteopenia, Anteverted nares, Recurrent fractures, Craniosynostosis, Micrognathia, Microcytic ane...	OMIM:611174
Senior-Loken Syndrome 9	Osteopenia, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Hypogonadism, Nephronop...	OMIM:616629
Dyskeratosis Congenita	Recurrent fractures, Abnormality of neutrophils, Hypoplasia of the maxilla, Carious teeth, Thromb...	ORPHA:1775
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, Osteopenia, Depressed nasal bridge, Recurrent fractures, Craniosynostosis, Mic...	OMIM:245600
Autosomal Dominant Hypophosphatemic Rickets	Hyperphosphaturia, Osteomalacia, Bone pain, Rickets, Iron deficiency anemia, Tooth abscess	ORPHA:89937
Glycine Encephalopathy 1	Hyperglycinuria	OMIM:605899
Weismann-Netter Syndrome	Abnormal cortical bone morphology, Anemia	ORPHA:3344
Succinic Semialdehyde Dehydrogenase Deficiency	Elevated urinary 4-hydroxybutyric acid, Increased level of gamma-aminobutyric acid in urine	OMIM:271980
Glass Syndrome	Anteverted nares, Prominent nasal bridge, Broad nasal tip, Long nose, Micrognathia, Bulbous nose,...	OMIM:612313
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Cryptorchidism, Delayed skeletal maturation, Methylmalonic aciduria, Normochromic a...	OMIM:614857
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Depressed nasal bridge, Decreased mean corpuscular hemoglobin conce...	ORPHA:231226
Beta-Thalassemia	Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenome...	ORPHA:848
Hypotonia-Cystinuria Syndrome	Retrognathia, Nephrolithiasis, Cystinuria	ORPHA:163690
Congenital Erythropoietic Porphyria	Osteopenia, Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Osteopo...	ORPHA:79277
Phakomatosis Pigmentovascularis	Reduced bone mineral density	ORPHA:2875
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomeru...	ORPHA:534
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Hip contracture, Flexion contracture of finger, Recurrent fractures, Shoul...	OMIM:193700
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Increased susceptibil...	OMIM:312150
Glycerol Kinase Deficiency	Cryptorchidism, Increased urinary glycerol, Osteoporosis, Pathologic fracture	OMIM:307030
Autosomal Recessive Cutis Laxa Type 2A	Prominent nasal bridge, Wide anterior fontanel, Increased susceptibility to fractures, Prominent ...	ORPHA:357058
Cystathioninuria	Cystathioninuria, Nephrolithiasis	ORPHA:212
Hajdu-Cheney Syndrome	Osteopenia, Wide nose, Anteverted nares, Recurrent fractures, Hypospadias, Micrognathia, Splenome...	ORPHA:955
Methionine Malabsorption Syndrome	Aminoaciduria	OMIM:250900
Osteogenesis Imperfecta, Type Xv	Bowing of limbs due to multiple fractures, Recurrent fractures, Joint hypermobility	OMIM:615220
Familial Dysautonomia	Glomerulopathy, Renal insufficiency, Recurrent fractures, Abnormality of the kidney, Osteolysis, ...	ORPHA:1764
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Reduced bone mineral density, Joint hyperflexibility, Short nose, Spina bifida ...	ORPHA:1185
46,Xy Partial Gonadal Dysgenesis	Male infertility, Hypoplasia of penis, Streak ovary, Hypergonadotropic hypogonadism, Hypospadias,...	ORPHA:251510
Lathosterolosis	Anteverted nares, Increased mean platelet volume, Micrognathia, Acanthocytosis, Schistocytosis, O...	OMIM:607330
Stuve-Wiedemann Syndrome 1	Anteverted nares, Micrognathia, Carious teeth, Osteoporosis, Pathologic fracture, Elbow flexion c...	OMIM:601559
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture	OMIM:616867
Renal Tubular Acidosis Iii	Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcinosis	OMIM:267200
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Papillary renal cell carcinoma, Recurrent fractures, Renal oncocytoma, Renal cortical adenoma	ORPHA:97290
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Peroxisome Biogenesis Disorder 2A (Zellweger)	Micrognathia, Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasi...	OMIM:214110
Greenberg Dysplasia	Depressed nasal bridge, Recurrent fractures, Micrognathia, Hypoplasia of the maxilla, Costal cart...	OMIM:215140
Cholestasis-Lymphedema Syndrome	Splenomegaly, Abnormality of urine homeostasis, Bone pain, Reduced bone mineral density	ORPHA:1414
Magel2-Related Prader-Willi-Like Syndrome	Narrow nasal bridge, Osteopenia, Cryptorchidism, Flexion contracture, Osteoporosis, Primary ameno...	ORPHA:398069
Lipodystrophy, Congenital Generalized, Type 4	Osteopenia, Accelerated skeletal maturation, Splenomegaly, Flexion contracture, Osteoporosis, Dec...	OMIM:613327
Muscular Dystrophy, Cardiac Type	Carnosinuria	OMIM:309930
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Osteopenia, Hypergonadotropic hypogonadism, Retrognathia, Narrow nose, Finger joint contracture	OMIM:212112
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Recurrent fractures, Osteoporosis, Increased susceptibility to fractures, Pathologic ...	OMIM:259770
Gaucher Disease	Osteopenia, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recurrent fractures, Pro...	ORPHA:355
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Depressed nasal bridge, Recurrent fractures, Micrognathia, Ab...	ORPHA:140
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Homocystinuria, Methylmalonic aciduria	OMIM:309541
Multiple Acyl-Coa Dehydrogenase Deficiency	Depressed nasal bridge, Wide anterior fontanel, Glutaric aciduria, Generalized aminoaciduria, Ren...	OMIM:231680
Beta-Thalassemia Major	Extramedullary hematopoiesis, Depressed nasal bridge, Decreased mean corpuscular hemoglobin conce...	ORPHA:231214
Familial Papillary Or Follicular Thyroid Carcinoma	Papillary renal cell carcinoma, Bone pain, Recurrent fractures	ORPHA:319487
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Osteoporosis, Bone pain, Renal cyst, N...	ORPHA:99880
Craniofaciofrontodigital Syndrome	Osteopenia, Joint laxity, Depressed nasal bridge, Osteoporosis, Finger joint hypermobility	ORPHA:363705
Progressive Pseudorheumatoid Arthropathy Of Childhood	Limitation of joint mobility, Abnormality of hand joint mobility, Camptodactyly, Joint contractur...	ORPHA:1159
Osteogenesis Imperfecta, Type Vi	Joint laxity, Increased susceptibility to fractures	OMIM:613982
Glutathionuria	Urinary incontinence, Glutathionuria	OMIM:231950
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Depressed nasal bridge, Anteverted nares, Reduced bone mineral density	ORPHA:83629
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Micrognathia, Flexion contracture, Depressed nasal ridge, Increased susceptibil...	OMIM:253290
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Cryptorchidism, Delayed skeletal maturation, Osteoporosis, Decreased fertilit...	ORPHA:168558
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Renal neoplasm, Multiple joint contractures, Depressed nasal bridge, Anteverted nares...	ORPHA:536467
Prader-Willi Syndrome	Narrow nasal bridge, Osteopenia, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchidism, Os...	OMIM:176270
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Knee flexion contracture, Hip contracture, Ankle flexion contracture, Reduced bone mineral density	OMIM:620232
Sarcosinemia	Hypersarcosinuria	ORPHA:3129
Dietary Iron Overload Disease	Osteoporosis	ORPHA:139507
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Cryptorchidism, Delayed skeletal maturation, Osteoporosis, Decreased fertilit...	ORPHA:289548
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Testicular neoplasm, Osteoporosis, Bone pain, Renal cyst, N...	ORPHA:143
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Osteopenia, Anteverted nares, Cryptorchidism, Hypogonadism, Pathologic fracture, Moderate albumin...	OMIM:614231
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Depressed nasal bridge, Anteverted nares, Micrognathia, Dental ...	OMIM:612731
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Joint stiffness, Micrognathia, Flexion contracture, Reduced bone mineral density, Convex nasal ridge	ORPHA:1979
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Methylmalonic aciduria	ORPHA:1933
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micrognathia, Osteoarthritis, Flexio...	ORPHA:666
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Anteverted nares, Prominent nasal bridge, Recurrent fractures, Ectopic kid...	ORPHA:3063
Frank-Ter Haar Syndrome	Osteopenia, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Micrognathia, Wide anterio...	OMIM:249420
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria	OMIM:250620
Ring Chromosome Y Syndrome	Male infertility, Streak ovary, Unilateral cryptorchidism, Hypospadias, Female infertility, Crypt...	ORPHA:261529
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Prominent nose, Recurrent fractures, Micrognathia	ORPHA:453510
Aspartylglucosaminuria	Mandibular prognathia, Aspartylglucosaminuria, Joint stiffness, Carious teeth, Splenomegaly, Dela...	ORPHA:93
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Depressed na...	ORPHA:536471
Cleidocranial Dysplasia 1	Increased bone mineral density, Depressed nasal bridge, Delayed eruption of primary teeth, Microg...	OMIM:119600
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Abnormal penis morphology, Increased bone mineral density, Hypospadias, Ch...	ORPHA:2658
Hyperprolinemia Type 2	Hydroxyprolinuria, Renal insufficiency, Prolinuria, Increased urine alpha-ketoglutarate concentra...	ORPHA:79101
Hallermann-Streiff Syndrome	Natal tooth, Choanal atresia, Recurrent fractures, Underdeveloped nasal alae, Micrognathia, Crypt...	ORPHA:2108
Argininemia	Diaminoaciduria	ORPHA:90
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic aciduria, Microcytic anemia	OMIM:612073
Cooper-Jabs Syndrome	Joint hyperflexibility, Anteverted nares, Camptodactyly of finger, Reduced bone mineral density	ORPHA:1488
Histidinuria Due To A Renal Tubular Defect	Impaired histidine renal tubular absorption, Histidinuria, Wide nasal bridge	OMIM:235830
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:236270
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Joint stiffness, Adenoiditis, Avascular necrosis of the capital femora...	ORPHA:581
Isovaleric Acidemia	Pancytopenia, Hyperglycinuria, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:243500
Farber Disease	Thrombocytopenia, Flexion contracture, Recurrent upper respiratory tract infections, Osteoporosis...	ORPHA:333
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Depressed nasal bridge, Micrognathia, Cryptorch...	OMIM:268400
Neuropathy, Hereditary Sensory And Autonomic, Type V	Osteomyelitis, Recurrent fractures, Urinary incontinence, Osteoarthritis, Painless fractures due ...	OMIM:608654
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Hypotonia-Cystinuria Syndrome	Hypergonadotropic hypogonadism, Depressed nasal bridge, Nephrolithiasis, Cystinuria, Cystine crys...	OMIM:606407
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Limb joint contracture, Splenomegaly, Achilles tendon contracture, Delayed skeletal maturation, G...	ORPHA:404454
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Increased urinary sulfite level, Absent urinary urothione, Elevated uri...	OMIM:252150
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Delayed s...	ORPHA:391487
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Recurrent fractures, Persistence of primary teeth, Micrognathia, Thrombocytopenia, ...	ORPHA:2785
Pancreatic Triacylglycerol Lipase Deficiency	Iron deficiency anemia, Osteoporosis, Osteomalacia, Rickets	ORPHA:309031
Schwartz-Jampel Syndrome	Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Prominent nasal b...	ORPHA:800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Infe...	ORPHA:98754
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Neurogenic bladder, Cryptorchidism, Bulbous nose, Delayed skeletal maturat...	ORPHA:488632
Osteogenesis Imperfecta, Type X	Osteopenia, Joint laxity, Micrognathia, Generalized joint laxity, Nephrolithiasis, Decreased calv...	OMIM:613848
Oculodentodigital Dysplasia	Mandibular prognathia, Narrow nasal bridge, Neurogenic bladder, Anteverted nares, Abnormal dental...	ORPHA:2710
Mucopolysaccharidosis Type 4	Anteverted nares, Abnormal dental enamel morphology, Grayish enamel, Carious teeth, Delayed skele...	ORPHA:582
Netherton Syndrome	Ectopic kidney, Increased circulating IgE level, Decreased circulating antibody level, Aminoacidu...	ORPHA:634
Tsh-Secreting Pituitary Adenoma	Osteopenia, Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decrease...	ORPHA:91347
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture	OMIM:607278
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Osteopenia, Distal joint laxity, Generalized joint laxity, Osteoporosis, Elbow flexion contractur...	ORPHA:1900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Infe...	ORPHA:98793
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Leigh Syndrome	Multiple joint contractures, Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, R...	ORPHA:506
Wilson Disease	Abnormality of the menstrual cycle, Thrombocytopenia, Splenomegaly, Bone pain, Arthritis, Patholo...	ORPHA:905
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Infe...	ORPHA:177904
Cockayne Syndrome B	Mandibular prognathia, Slender nose, Renal insufficiency, Proteinuria, Prominent nasal bridge, De...	OMIM:133540
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Hypogonadotropic hypogonadism, Cryptorchidism, Osteoporosis, Primary amenorrhea, Infe...	ORPHA:177901
Premature Ovarian Failure 6	Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ...	OMIM:612310
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Dental malocclusion, Wide nasal bridge, Reduced bone mineral density, Hydr...	ORPHA:3079
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Depressed nasal bridge, Osteoporosis, Bladder diverticulum, Decreased u...	OMIM:225400
Osteogenesis Imperfecta, Type Vii	Osteopenia, Recurrent fractures, Multiple prenatal fractures, Wide anterior fontanel, Hydronephro...	OMIM:610682
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Delayed skeletal maturation, Chronic kidney disease, Elevated c...	ORPHA:411634
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Bone pain, Pathologic fra...	OMIM:230800
Hyperlysinemia	Craniosynostosis, Argininuria, Depressed nasal ridge, Cystinuria, Hyperlysinuria, Decreased urine...	ORPHA:2203
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormally ossified vertebrae, Hydroureter, Osteomalacia, Abnormality of the kidney, ...	ORPHA:2636
Gm1-Gangliosidosis, Type Ii	Splenomegaly, Sea-blue histiocytosis, Thin bony cortex, Joint stiffness	OMIM:230600
Xeroderma Pigmentosum	Craniofacial hyperostosis, Flat nasal alae, Cryptorchidism, Delayed skeletal maturation, Aminoaci...	ORPHA:910
Cardiofaciocutaneous Syndrome 3	Reduced bone mineral density	OMIM:615279
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce...	OMIM:612852
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Homocystinuria, Megaloblastic anemia	OMIM:250940
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint laxity, Recurrent fractures, Craniosynostosis, Micrognathia, Accelerated skelet...	OMIM:130070
Leber Congenital Amaurosis 1	Hyperthreoninuria	OMIM:204000
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Hypogonadism	OMIM:273400
Premature Ovarian Failure 13	Oligomenorrhea, Female infertility, Amenorrhea	OMIM:617442
Menkes Disease	Osteomyelitis, Recurrent fractures, Tarsal synostosis, Micrognathia, Osteoporosis, Joint hyperfle...	ORPHA:565
Cerebrotendinous Xanthomatosis	Osteoporosis	OMIM:213700
Occipital Horn Syndrome	Joint laxity, Ureteral obstruction, Capitate-hamate fusion, Osteoporosis, Hydronephrosis, Bladder...	OMIM:304150
Hereditary Sensory And Autonomic Neuropathy Type 1	Limb pain, Pathologic fracture, Osteomyelitis	ORPHA:36386
Classic Homocystinuria	Osteoporosis, Recurrent fractures, Joint stiffness	ORPHA:394
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Recurrent fractures, Craniosynostosis, Splenomegaly, Bone pain, Reduce...	ORPHA:667
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Dermatitis Herpetiformis	Bone pain, Recurrent fractures, Microcytic anemia	ORPHA:1656
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Osteopenia, Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, ...	ORPHA:79408
Congenital Disorder Of Glycosylation, Type Iiw	Wide nose, Membranoproliferative glomerulonephritis, Micrognathia, Underdeveloped nasal alae, Mic...	OMIM:619525
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Thickened cortex of long bones, Delayed skeletal maturation, Spina b...	ORPHA:488434
Cranioectodermal Dysplasia 1	Joint laxity, Anteverted nares, Sagittal craniosynostosis, Renal magnesium wasting, Chronic kidne...	OMIM:218330
X-Linked Hypophosphatemia	Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rick...	ORPHA:89936
Glucoglycinuria	Hyperglycinuria, Glycosuria	OMIM:138070
Prolidase Deficiency	Recurrent cystitis, Depressed nasal bridge, Micrognathia, Carious teeth, Splenomegaly, Depressed ...	ORPHA:742
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Osteopenia, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620365
Primary Biliary Cholangitis	Increased circulating IgM level, Osteoporosis, Increased circulating IgA level	ORPHA:186
Cleidocranial Dysplasia 2	Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Wide anterior fontanel,...	OMIM:620099
Premature Ovarian Failure 20	Secondary amenorrhea, Female infertility	OMIM:619938
Congenital Disorder Of Glycosylation, Type Iib	Wide nose, Recurrent fractures, Decreased circulating antibody level, Retrognathia, Decreased cir...	OMIM:606056
Classic Pantothenate Kinase-Associated Neurodegeneration	Increased susceptibility to fractures	ORPHA:216866
Occipital Horn Syndrome	Osteopenia, Recurrent urinary tract infections, Osteomalacia, Avascular necrosis of the capital f...	ORPHA:198
Cushing Disease	Increased urinary cortisol level, Lymphopenia, Leukocytosis, Osteoporosis, Secondary amenorrhea, ...	ORPHA:96253
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Aciduria, Osteoporosis, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Tracheomalacia	OMIM:203700
Mucolipidosis Ii Alpha/Beta	Osteopenia, Depressed nasal bridge, Anteverted nares, Craniosynostosis, Micrognathia, Splenomegal...	OMIM:252500
Fumarase Deficiency	Bilateral fetal pyelectasis, Depressed nasal bridge, Anteverted nares, Increased urine succinate ...	OMIM:606812
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Congenital Disorder Of Deglycosylation 1	Anteverted nares, Heparan sulfate excretion in urine, Osteoporosis, 3-Methylglutaconic aciduria, ...	OMIM:615273
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinuria	OMIM:616034
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Carious teeth, Cryptorchidism, Throm...	OMIM:305000
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria	ORPHA:414
Atypical Werner Syndrome	Sclerosis of hand bone, Renal neoplasm, Increased bone mineral density, Premature ovarian insuffi...	ORPHA:79474
Myasthenic Syndrome, Congenital, 22	Cystinuria	OMIM:616224
Severe Congenital Nemaline Myopathy	Hypospadias, Multiple prenatal fractures, Flexion contracture, Arthrogryposis multiplex congenita...	ORPHA:171430
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:619120
Ciliary Dyskinesia, Primary, 37	Female infertility, Chronic rhinitis	OMIM:617577
Cole-Carpenter Syndrome	Delayed eruption of teeth, Recurrent fractures, Abnormal dental enamel morphology, Micrognathia, ...	ORPHA:2050
Marshall-Smith Syndrome	Microretrognathia, Prominence of the premaxilla, Decreased hip abduction, Anteverted nares, Choan...	OMIM:602535
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Pancytopenia, Megaloblastic anemia, Cystathioninuria, Methylmalonic aciduria, Anemia, Neutropenia...	OMIM:277380
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Aminoaciduria, Organ...	ORPHA:85276
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Arthrogryposis multiplex congenita, Flexion contracture, Multiple prenatal fra...	OMIM:616866
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Joint laxity, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture...	OMIM:271640
D-Glyceric Aciduria	Aminoaciduria, Micropenis	OMIM:220120
Kyphoscoliotic Ehlers-Danlos Syndrome	Osteopenia, Micrognathia, Osteoporosis, Bladder diverticulum, Abnormal nasal bridge morphology, J...	ORPHA:536545
Primary Sclerosing Cholangitis	Osteopenia, Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Hepa...	ORPHA:171
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ...	OMIM:619322
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Homocitrullinuria	OMIM:238970
Cystic Fibrosis	Osteopenia, Nasal polyposis, Osteoporosis, Nephrolithiasis	ORPHA:586
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Aminoaciduria, Anemia	OMIM:614946
Chronic Visceral Acid Sphingomyelinase Deficiency	Osteopenia, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Delayed skeletal maturation...	ORPHA:77293
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Lacticaciduria, Hy...	OMIM:605711
Grange Syndrome	Renal artery stenosis, Recurrent fractures, Renovascular hypertension, Increased susceptibility t...	OMIM:602531
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypochromic anemia, Abnormal renal tubule morphology, Abnormality of neutrophils, Reduced bone mi...	ORPHA:2720
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Severe generalized osteoporosis, Micrognathia, Knee flexion contrac...	OMIM:210730
Primary Ciliary Dyskinesia	Male infertility, Nasal polyposis, Female infertility, Asplenia, Nasal congestion, Chronic rhinit...	ORPHA:244
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Depressed nasal bridge, Thin bony cortex, Joint stiffness	OMIM:277600
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Increased urinary taurine...	OMIM:252160
Multiple Endocrine Neoplasia Type 1	Osteolysis, Nephrolithiasis, Reduced bone mineral density, Increased susceptibility to fractures,...	ORPHA:652
Cerebrotendinous Xanthomatosis	Osteopenia, Osteoporosis, Increased susceptibility to fractures	ORPHA:909
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Hypospadias, Wide nasal ridge, Cryptorchidism, Osteopor...	ORPHA:459070
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Bulbous nose, Retrognathia, Multiple prenatal fractures	OMIM:618644
Marfan Syndrome	Osteopenia, Arthralgia/arthritis, Limited elbow movement, Micrognathia, Osteoporosis, Retrognathi...	ORPHA:558
Wolf-Hirschhorn Syndrome	Hypospadias, Abnormality of the kidney, Micrognathia, Cryptorchidism, Delayed skeletal maturation...	ORPHA:280
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Osteoarthritis of the small joints of the hand, Camptodactyly of finger, Craniosyno...	ORPHA:284984
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Anemia, Reduced bone mineral density	ORPHA:935
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Underdeveloped nasal alae, Micrognathia, Flexion contracture, Increased susc...	ORPHA:435628
Autosomal Dominant Progressive External Ophthalmoplegia	Osteoporosis, Nocturia	ORPHA:254892
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Premature ovarian insufficiency, Female infertility, Micrognathia, Ectopic kidney, Re...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Premature ovarian insufficiency, Female infertility, Micrognathia, Ectopic kidney, Re...	ORPHA:99228
Monosomy X	Osteopenia, Premature ovarian insufficiency, Female infertility, Micrognathia, Ectopic kidney, Re...	ORPHA:99226
Turner Syndrome	Osteopenia, Premature ovarian insufficiency, Female infertility, Micrognathia, Ectopic kidney, Re...	ORPHA:881
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	ORPHA:23
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Depressed nasal bridge, Female infertility, Irregular menstruati...	OMIM:110100
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level	OMIM:605850
Glycogen Storage Disease Due To Acid Maltase Deficiency	Flexion contracture, Osteoporosis, Oligosacchariduria	ORPHA:365
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Mild proteinuria, Elevated circulating creatinine concentration, Renal neutrop...	ORPHA:91500
Williams Syndrome	Osteopenia, Hypoplasia of penis, Micrognathia, Abnormal tubulointerstitial morphology, Nephrocalc...	ORPHA:904
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Canavan Disease	Elevated urinary N-acetylaspartic acid level	OMIM:271900
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Premature ovarian insufficiency, Female infertility	OMIM:619518
Brittle Cornea Syndrome 2	Recurrent fractures, Joint hypermobility	OMIM:614170
Williams-Beuren Syndrome	Osteopenia, Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidn...	OMIM:194050
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Wide nose, Prominent nasal bridge, Prominent nose, Dental malocclusion, Retrognathi...	OMIM:601552
Craniopharyngioma	Hypogonadism, Abnormal nasal bone morphology, Hypogonadotropic hypogonadism, Increased susceptibi...	ORPHA:54595
Primrose Syndrome	Hip contracture, Depressed nasal bridge, Anteverted nares, Hypergonadotropic hypogonadism, Broad ...	OMIM:259050
Exudative Vitreoretinopathy 1	Recurrent fractures	OMIM:133780
Non-Acquired Panhypopituitarism	Osteopenia, Hypogonadotropic hypogonadism, Delayed skeletal maturation, Depressed nasal ridge, In...	ORPHA:90695
Hartnup Disease	Abnormal urinary color, Neutral hyperaminoaciduria	ORPHA:2116
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Medium chain dicarboxylic aciduria, Hyperglycinuria	OMIM:201450
D-Glyceric Aciduria	Hyperglycinuria	ORPHA:941
Blue Rubber Bleb Nevus	Pathologic fracture, Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Spondyloocular Syndrome	Osteopenia, Unilateral cryptorchidism, Thin bony cortex	OMIM:605822
Weill-Marchesani Syndrome 2	Depressed nasal bridge, Joint stiffness, Hypoplasia of the maxilla, Delayed skeletal maturation, ...	OMIM:608328
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Homocystinuria, Methylmalonic aciduria, Megaloblastic anemia	OMIM:277410
Aspartylglucosaminuria	Joint laxity, Aspartylglucosaminuria, Depressed nasal bridge, Anteverted nares, Delayed skeletal ...	OMIM:208400
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint laxity, Cryptorchidism, Osteoporosis, Nephrolithiasis, Vesicoureteral reflux, R...	ORPHA:438213
Autosomal Dominant Hypocalcemia	Nephrocalcinosis, Hypermagnesiuria, Hypercalciuria, Reduced bone mineral density	ORPHA:428
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria, Alpha-aminoadipic aciduria, M...	OMIM:620089
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Splenomegaly, Generalized aminoaciduria, Thrombocytopenia	OMIM:251880
Dpagt1-Cdg	Flexion contracture, Osteoporosis, Anemia, Camptodactyly	ORPHA:86309
Liver Disease, Severe Congenital	Joint laxity, Recurrent urinary tract infections, Depressed nasal bridge, Hypospadias, Narrow nas...	OMIM:619991
Citrullinemia, Type Ii, Adult-Onset	Argininosuccinic aciduria	OMIM:603471
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Joint laxity, Pancytopenia, Recurrent urinary tract infections, Delayed skeletal matu...	OMIM:613658
Craniotubular Dysplasia, Ikegawa Type	Sclerosis of skull base, Anteverted nares, Wide nasal bridge, Thin bony cortex	OMIM:619727
17Q11 Microdeletion Syndrome	Osteopenia, Depressed nasal bridge, Osteoporosis, Osteolysis, Renovascular hypertension, Renal ar...	ORPHA:97685
Singleton-Merten Syndrome 1	Osteopenia, Hypoplasia of the maxilla, Carious teeth, Osteoporosis, Osteolytic defects of the pha...	OMIM:182250
Interstitial Lung And Liver Disease	Thrombocytosis, Aminoaciduria, Anemia	OMIM:615486
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Painless fractures due to injury, Osteomyelitis leading to amputation due to slow healing fractur...	OMIM:256810
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria	OMIM:619055
Loeys-Dietz Syndrome 2	Joint laxity, Craniosynostosis, Micrognathia, Osteoporosis, Joint contracture of the hand, Campto...	OMIM:610168
Argininosuccinic Aciduria	Aminoaciduria, Oroticaciduria	OMIM:207900
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Leukocytosis, Osteoporosis, Secondary amenorrhea, Oligomenorrhe...	ORPHA:99889
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Ketonuria, Hyperglycinuria, Organic aciduria	OMIM:210210
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Recurrent urinary tract infections, Wide anterior fontanel, Pyelonephritis, Urethra...	ORPHA:90349
Ovarian Dysgenesis 3	Primary amenorrhea, Female infertility	OMIM:614324
Fructose Intolerance, Hereditary	Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype...	OMIM:229600
Orotic Aciduria	Orotic acid crystalluria, Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblast...	OMIM:258900
Molybdenum Cofactor Deficiency, Complementation Group C	Increased urinary taurine	OMIM:615501
Kanzaki Disease	Increased urinary O-linked sialopeptides, Aminoaciduria, Depressed nasal bridge	OMIM:609242
Pmm2-Cdg	Mandibular prognathia, Osteopenia, Joint laxity, Multiple joint contractures, Anteverted nares, P...	ORPHA:79318
Tryptophanuria With Dwarfism	Tryptophanuria	OMIM:276100
Methylmalonic Aciduria, Cbla Type	Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, An...	OMIM:251100
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Lacticaciduria, Elevated urine acetoacetic aci...	OMIM:615751
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Tubulointerstitial nephritis, Aminoaciduria, Lacticaciduria	OMIM:124000
Argininemia	Diaminoaciduria, Oroticaciduria	OMIM:207800
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Hypogonadotropic hypogonadism, Delayed skeletal maturation, Depressed nasal ridge, In...	ORPHA:95494
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Dicarboxylic a...	OMIM:619355
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria	OMIM:251900
Glutaric Acidemia Type 3	Glutaric aciduria, Ketonuria	ORPHA:35706
Methylmalonic Aciduria, Cblb Type	Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia	OMIM:251110
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Methylmalonic aciduria	OMIM:251120
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Elevated urinary 3-methylcrotonylglycine level, Ketonuria, 3-hydroxyisovaleric aciduria	OMIM:210200
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility...	ORPHA:572333
Diabetes Mellitus, Permanent Neonatal, 3	Ketonuria, Glycosuria	OMIM:618857
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Homocystinuria	ORPHA:395
Neurofibromatosis Type 1	Recurrent fractures, Abnormality of the upper urinary tract, Joint stiffness, Cryptorchidism, Chr...	ORPHA:636
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Ketonuria, Glycosuria	ORPHA:2089
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Mowat-Wilson Syndrome	Mandibular prognathia, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux...	ORPHA:2152
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
3-Hydroxy-3-Methylglutaric Aciduria	Ketonuria, Leukocytosis, Leukopenia, 3-Methylglutaric aciduria, Thrombocytosis, Anemia	ORPHA:20
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Lower-limb joint co...	ORPHA:99885
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Ketonuria, Renal hypoplasia	OMIM:619053
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Ketonuria, Lacticaciduria	OMIM:619167
Glutaric Acidemia I	Glutaric aciduria, Ketonuria	OMIM:231670
Beta-Ketothiolase Deficiency	Thrombocytosis, Leukocytosis, Ketonuria	ORPHA:134
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Renal steatosis	OMIM:261680
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ...	ORPHA:79282
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria	OMIM:615453
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Myoglobinuria, Ketonuria	OMIM:616878
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Ketonuria	ORPHA:79644
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Ketonuria	ORPHA:480864
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Ketonuria, Increased urinary glycerol, Decreased circulating antibody level, He...	ORPHA:247598
Scorpion Envenomation	Ketonuria, Priapism, Acute kidney injury, Glycosuria	ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Anteverted nares, Hypospadias, Micrognathia, Wide nasal bridge	OMIM:220111

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Akr1a1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Akr1a1.

No publications found that use IMPC mice or data for Akr1a1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Akr1a1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Akr1a1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Akr1a1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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