Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
transducer of ERBB2, 2
Synonyms:
2900090N22Rik,  4930545K18Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Tob2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Tob2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Acroosteolysis
Osteolytic defects of the phalanges of the hand, Osteolytic defects of the phalanges of the toes OMIM:102400
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Osteoporosis
Osteoporosis OMIM:166710
Medial Condensing Osteitis Of The Clavicle
Patchy reduction of bone mineral density, Limited shoulder movement ORPHA:57196
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia OMIM:228600
Paget Disease Of Bone 4
Osteolysis OMIM:606263
Immunodeficiency 12
Osteoporosis OMIM:615468
Prader-Willi Habitus, Osteopenia, And Camptodactyly
Osteoporosis, Osteopenia, Camptodactyly, Joint contracture of the hand OMIM:264010
Extensor Tendons Of Finger Anomalies
Osteoporosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:3294
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures OMIM:256720
Xanthoma Disseminatum
Osteolysis ORPHA:158003
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis, Increased circulating antibody level, Abnormal B cell count, Anemia, Sp... ORPHA:100024
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Familial Expansile Osteolysis
Osteolysis, Pathologic fracture, Thin bony cortex OMIM:174810
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Rosaï-Dorfman Disease
Osteolysis, Dysgammaglobulinemia, Anemia ORPHA:158014
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis ORPHA:2776
Paget Disease Of Bone 3
Osteolysis, Fractures of the long bones, Patchy osteosclerosis OMIM:167250
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Juvenile Hyaline Fibromatosis
Progressive flexion contractures, Osteolysis, Joint stiffness ORPHA:2028
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Dermatoosteolysis, Kirghizian Type
Osteolysis, Flexion contracture, Joint contracture of the hand OMIM:221810
Gnathodiaphyseal Dysplasia
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Thickened cortex of long bones ORPHA:53697
Hypogonadotropic Hypogonadism 18 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615267
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis OMIM:609655
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of patellae, Osteolysis of scaphoids, Synovitis ORPHA:50809
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Gorham-Stout Disease
Osteolysis, Abnormal bone ossification, Patchy reduction of bone mineral density, Osteolysis invo... ORPHA:73
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Osteopenia, Hepatosplenomegaly, Anemia OMIM:610539
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Recurrent fractures, Joint laxity OMIM:248010
Pigmented Villonodular Synovitis
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Osteolysis ORPHA:66627
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Osteosarcoma
Osteolysis, Pathologic fracture ORPHA:668
Keratoderma Hereditarium Mutilans
Osteolysis ORPHA:494
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Osteolysis, Flexion contrac... OMIM:614008
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Ramon Syndrome
Osteolysis ORPHA:3019
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Osteolysis, Metacarpal osteolysis, Carpal osteolysis, Limitation of join... ORPHA:2774
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Ollier Disease
Osteolysis, Joint stiffness, Anemia ORPHA:296
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis OMIM:613849
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis, Splenomegaly ORPHA:79303
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Indolent Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Splenomegaly, Abnormal mast cell morpholo... ORPHA:98848
Aggressive Systemic Mastocytosis
Osteoporosis, Increased proportion of CD25+ mast cells, Osteolysis, Leukocytosis, Neutropenia, Pa... ORPHA:98850
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Hypocalcemic Vitamin D-Resistant Rickets
Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal trabecularization, Osteomalacia, A... ORPHA:93160
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Eiken Syndrome
Abnormal bone ossification, Abnormal trabecular bone morphology, Limited hip movement, Limited el... ORPHA:79106
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteoporosis, Osteopenia OMIM:617810
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Bruck Syndrome 1
Osteoporosis, Joint laxity, Increased susceptibility to fractures, Knee flexion contracture, Hip ... OMIM:259450
Thrombocytopenia 6
Osteoporosis, Thrombocytopenia, Myelofibrosis OMIM:616937
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis OMIM:309610
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Osteolysis, Periostitis, Splenomegaly, Neutrophilia, Osteopenia, Fused cervical vertebra... OMIM:612852
Desmoid Tumor
Osteolysis, Limitation of joint mobility ORPHA:873
Lichtenstein Syndrome
Osteoporosis, Increased susceptibility to fractures, Decreased circulating IgA level, Neutropenia OMIM:246550
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Thrombocytopenia, Joint laxity OMIM:614727
Classic Hodgkin Lymphoma
Osteolysis, Bone marrow hypocellularity, Splenomegaly ORPHA:391
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Osteolysis involving bon... ORPHA:371428
Juvenile Paget Disease
Osteoporosis, Cranial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Generalized bone demineralization, Rickets, Rickets of the lower limbs, Thin bony cortex, Delayed... OMIM:600785
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis, Splenomegaly ORPHA:79301
Dermatoosteolysis, Kirghizian Type
Osteolysis, Tarsal synostosis, Osteoarthritis ORPHA:1657
Gamma-Heavy Chain Disease
Osteolysis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Rheumatoid arthritis, Abnor... ORPHA:100026
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Camptodactyly, Knee flexion contracture, Joint ... OMIM:214150
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteolysis, Craniofacial osteosclerosis, Hyperostosis, Anemia, Osteomyelitis, Arthritis ORPHA:324964
Paget Disease Of Bone 2, Early-Onset
Osteolysis, Increased susceptibility to fractures, Fractures of the long bones OMIM:602080
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteolysis involving tarsal bone... OMIM:166300
Analbuminemia
Osteoporosis OMIM:616000
Infantile Myofibromatosis
Bone cyst, Osteolysis, Limitation of joint mobility ORPHA:2591
Felty Syndrome
Osteolysis, Abnormal lymphocyte morphology, Synovitis, Neutropenia, Thrombocytopenia, Anemia, Spl... ORPHA:47612
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Gaucher Disease Type 1
Osteolysis, Increased circulating antibody level, Increased bone mineral density, Pancytopenia, T... ORPHA:77259
Perrault Syndrome 1
Osteoporosis OMIM:233400
Maffucci Syndrome
Osteolysis, Recurrent fractures ORPHA:163634
Sickle Cell Anemia
Osteoporosis, Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chron... ORPHA:232
Frank-Ter Haar Syndrome
Camptodactyly of finger, Osteolysis, Joint stiffness ORPHA:137834
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Calvarial hyperostosis, Pathologic fracture, Increased susceptibility to fractures, Osteolysis ORPHA:52430
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Bruck Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Recurrent fractures, Joint stiffness ORPHA:2771
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Brachydactylous Dwarfism, Mseleni Type
Osteoarthritis of the elbow, Stiff shoulders, Hip osteoarthritis, Knee osteoarthritis, Osteopenia... ORPHA:2619
Pycnodysostosis
Osteolysis, Recurrent fractures, Abnormal pelvis bone ossification, Anemia, Splenomegaly, Osteomy... ORPHA:763
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Sialidosis Type 2
Osteoporosis, Flexion contracture, Splenomegaly ORPHA:87876
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint laxity ORPHA:2788
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture OMIM:307030
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Mycetoma
Osteoporosis, Bone cyst, Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Ab... ORPHA:2583
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones ORPHA:93351
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Joint stiffness, Joint contracture of the hand, Osteoarthr... OMIM:208230
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia OMIM:615923
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Increased circulating IgE level, Flexion contracture of to... ORPHA:3409
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Osteolysis, Ankylosis ORPHA:659
Multiple Osteochondromas
Recurrent fractures, Osteolysis, Osteoarthritis, Synostosis of joints ORPHA:321
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis ORPHA:189427
Cranioectodermal Dysplasia
Osteoporosis, Joint hyperflexibility, Craniosynostosis ORPHA:1515
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Reduced bone mineral density, Symmetric polyarthritis, Osteopenia, Limitation of joint... ORPHA:85435
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Recurrent fractures OMIM:619131
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189439
Pachydermoperiostosis
Osteoporosis, Osteomyelitis, Osteolysis, Abnormal cortical bone morphology, Anemia, Splenomegaly,... ORPHA:2796
Osteogenesis Imperfecta, Type Xix
Osteopenia, Recurrent fractures OMIM:301014
Sapho Syndrome
Osteolysis, Craniofacial osteosclerosis, Recurrent fractures, Synovitis, Enthesitis, Hyperostosis... ORPHA:793
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Osteopenia, Recurrent fractures ORPHA:91133
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis, Thrombocytopenia, Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... OMIM:613989
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Osteoarthritis OMIM:618000
Metaphyseal Chondrodysplasia, Spahr Type
Reduced bone mineral density ORPHA:2501
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90153
Diffuse Cutaneous Systemic Sclerosis
Osteolysis, Flexion contracture, Arthritis ORPHA:220393
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Hyperparathyroidism 4
Osteopenia OMIM:617343
Pyle Disease
Limited elbow extension, Reduced bone mineral density OMIM:265900
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Thrombocytopenia, Refractory anemia, Leukopenia, B... OMIM:231095
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Fibrous Dysplasia Of Bone
Osteolysis, Patchy reduction of bone mineral density, Rickets, Fibrous dysplasia of the bones, Os... ORPHA:249
Werner Syndrome
Osteoporosis OMIM:277700
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Beta-Thalassemia Intermedia
Osteoporosis, Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Erythroid ... ORPHA:231222
Duchenne And Becker Muscular Dystrophy
Reduced bone mineral density, Joint stiffness ORPHA:262
Mucolipidosis Type Iii
Craniofacial hyperostosis, Reduced bone mineral density, Joint stiffness ORPHA:577
Porphyria, Congenital Erythropoietic
Osteolysis, Hemolytic anemia, Thrombocytopenia, Pathologic fracture, Joint contracture of the han... OMIM:263700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:600081
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... ORPHA:90154
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis ORPHA:99879
Chromomycosis
Osteolysis, Ankylosis ORPHA:182
Mixed Connective Tissue Disease
Osteolysis, Hemolytic anemia, Joint stiffness, Leukopenia, Splenomegaly, Arthritis ORPHA:809
Hypophosphatemic Rickets, X-Linked Recessive
Rickets, Hypophosphatemic rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed e... OMIM:300554
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Osteolytic defects of the phalanges of the hand, Osteopenia, Limitation of joint mo... OMIM:259100
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Niemann-Pick Disease, Type A
Osteoporosis, Bone-marrow foam cells, Microcytic anemia, Sea-blue histiocytosis, Splenomegaly OMIM:257200
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thro... ORPHA:98849
Acth-Independent Macronodular Adrenal Hyperplasia 2
Osteoporosis OMIM:615954
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteoporosis, Osteopenia OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteoporosis, Osteopenia OMIM:610489
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Splenomegaly ORPHA:172
Spondylo-Ocular Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:85194
Gaucher Disease Type 3
Osteolysis, Increased circulating antibody level, Increased bone mineral density, Pancytopenia, T... ORPHA:77261
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia, Increased mean corpuscular volume,... OMIM:618849
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:785
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Camurati-Engelmann Disease, Type 2
Hyperostosis, Hip contracture, Osteopenia, Knee flexion contracture OMIM:606631
Geroderma Osteodysplasticum
Osteoporosis, Camptodactyly, Recurrent fractures, Increased susceptibility to fractures, Osteopen... OMIM:231070
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Flexion contracture OMIM:615381
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Papillon-Lefèvre Syndrome
Osteolysis, Recurrent cutaneous abscess formation, Liver abscess ORPHA:678
H Syndrome
Osteolysis, Microcytic anemia, Camptodactyly, Recurrent fractures, Histiocytosis, Hepatosplenomegaly ORPHA:168569
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Osteomalacia, Joint stiffness, Osteopenia ORPHA:1901
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Refractory Celiac Disease
Osteoporosis, Iron deficiency anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Rickets, Hypophosphatemic rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossi... OMIM:241530
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Recurrent fractures, Anemia, Splenomegaly OMIM:618107
Kaposiform Lymphangiomatosis
Osteolysis, Abnormal spleen morphology, Thrombocytopenia, Fractures of the long bones, Anemia, Sp... ORPHA:464329
Classic Galactosemia
Osteoporosis, Reduced bone mineral density, Abnormal erythrocyte enzyme level ORPHA:79239
Geroderma Osteodysplastica
Osteoporosis, Joint hyperflexibility, Abnormal bone ossification, Recurrent fractures ORPHA:2078
Propionic Acidemia
Osteoporosis, Neutropenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:606054
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteoporosis, Metatarsal osteolysis, Camptodactyly of toe, Metacarpal osteolysis, Interphalangeal... OMIM:259600
Osteogenesis Imperfecta, Type Iii
Wide anterior fontanel, Decreased calvarial ossification, Recurrent fractures, Severe generalized... OMIM:259420
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae OMIM:156510
Methylcobalamin Deficiency Type Cble
Osteoporosis, Neutropenia, Pancytopenia, Increased mean corpuscular volume, Macrocytic anemia ORPHA:2169
Mastocytosis
Osteoporosis, Chronic leukemia, Recurrent fractures, Splenomegaly, Mastocytosis, Acute leukemia ORPHA:98292
Diamond-Blackfan Anemia 7
Osteoporosis, Neutropenia, Increased mean corpuscular volume, Osteopenia, Macrocytic anemia OMIM:612562
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Delayed ossification of carpal bones OMIM:184260
Nasu-Hakola Disease
Acute leukemia, Reduced bone mineral density, Bone cyst, Limitation of joint mobility ORPHA:2770
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Abnormal trabecular bone morphology, Hypophosphatemic rickets, Tooth abscess, E... ORPHA:289176
Hemochromatosis, Type 1
Osteoporosis, Splenomegaly OMIM:235200
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis, Thrombocytopenia, Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellul... OMIM:613990
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Generalized bone demineralization, Decreased circulating IgA level OMIM:215250
Hepatoerythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Erythroid hyperplasia, Splenomegaly, Osteopenia ORPHA:95159
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Osteopetrosis, Decreased circulating IgA level, Anemia, Sple... OMIM:612301
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Generalized osteoporosis, Limitation of joint mobility OMIM:236200
Gaucher Disease
Arthrogryposis multiplex congenita, Osteolysis, Increased circulating antibody level, Recurrent f... ORPHA:355
Cantu Syndrome
Osteoporosis OMIM:239850
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints OMIM:309583
Richards-Rundle Syndrome
Reduced bone mineral density, Joint stiffness ORPHA:1399
Perrault Syndrome 4
Osteoporosis OMIM:615300
Estrogen Resistance
Osteopenia OMIM:615363
Dent Disease 1
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... OMIM:300009
Congenital Erythropoietic Porphyria
Osteoporosis, Osteolysis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia, Thrombocytope... ORPHA:79277
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:264700
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Familial Dysautonomia
Osteolysis, Recurrent fractures ORPHA:1764
Desbuquois Dysplasia 1
Osteoporosis, Advanced tarsal ossification, Joint laxity, Advanced ossification of carpal bones, ... OMIM:251450
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis ORPHA:73272
Wilson Disease
Osteoporosis, Joint hypermobility, Hemolytic anemia, Osteomalacia, Osteoarthritis OMIM:277900
Vitamin D-Dependent Rickets, Type 2A
Rickets, Recurrent fractures, Thin bony cortex, Delayed epiphyseal ossification, Sparse bone trab... OMIM:277440
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Osteopetrosis, Thrombocytopenia, Reduced bone mineral density, Anemia, Splen... ORPHA:2785
Xp21 Deletion Syndrome
Osteoporosis, Reduced bone mineral density, Joint laxity ORPHA:261476
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Flexion contracture of toe, Wrist flexion contracture, Joint contracture of the han... OMIM:255800
Bruck Syndrome 2
Flexion contracture, Increased susceptibility to fractures, Knee flexion contracture, Osteopenia,... OMIM:609220
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Osteopenia OMIM:615398
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia OMIM:613388
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture OMIM:615851
Macs Syndrome
Osteoporosis, Joint hypermobility OMIM:613075
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis, Osteolysis involving bones of the upper limbs, Thrombocytopenia, Osteolysis involving... ORPHA:464321
Alpha-Mannosidosis, Infantile Form
Craniosynostosis, Osteolysis, Joint laxity, Cortical thickening of long bone diaphyses, Pancytope... ORPHA:309282
Erdheim-Chester Disease
Osteolysis, Osteomyelitis, Anemia, Increased bone mineral density ORPHA:35687
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Flexion contracture, Decreased circulating IgA level, Splenomegaly, Osteopenia OMIM:613327
Pseudohypoparathyroidism, Type Ia
Osteoporosis OMIM:103580
Phakomatosis Pigmentovascularis
Reduced bone mineral density ORPHA:2875
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis, Thrombocytopenia, Bone marrow hypocellularity, Aplastic anemia OMIM:224230
Hypocalcemic Vitamin D-Dependent Rickets
Rickets, Osteomalacia, Increased susceptibility to fractures, Thin bony cortex, Delayed epiphysea... ORPHA:289157
Primary Intestinal Lymphangiectasia
Osteoporosis, Decreased circulating antibody level, Iron deficiency anemia, Lymphopenia ORPHA:90362
Lowry-Maclean Syndrome
Osteoporosis, Osteopenia, Craniosynostosis ORPHA:2409
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Joint hyperflexibility, Recurrent fractures, Coarse metaphyseal trabecu... ORPHA:955
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Progressive Pseudorheumatoid Arthropathy Of Childhood
Camptodactyly, Abnormality of hand joint mobility, Generalized osteoporosis, Joint contracture of... ORPHA:1159
Beta-Thalassemia
Microcytic anemia, Thrombocytopenia, Reduced bone mineral density, Anemia, Splenomegaly, Abnormal... ORPHA:848
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Chikungunya
Osteolysis, Periostitis, Stiff interphalangeal joints, Enthesitis, Synovitis, Joint stiffness, Ar... ORPHA:324625
Hyperparathyroidism, Transient Neonatal
Osteopenia OMIM:618188
Occipital Horn Syndrome
Osteoporosis, Osteolysis, Synostosis of joints, Rickets, Joint hyperflexibility, Osteomalacia, Os... ORPHA:198
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Reduced bone mineral density, Abnormally ossified vertebrae, Limited elbow movement ORPHA:94068
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Stiff interphalangeal joints, Joint stiffness, Splenomegaly, Arthritis ORPHA:465508
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Iron deficiency anemia, Osteomalacia ORPHA:309031
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Osteolysis, Bone cyst, Flexion contracture, Anemia, Hip contracture ORPHA:3042
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Bone cyst, Osteolysis ORPHA:2396
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Thrombocytopenia, Pathologic fracture, Increased susceptibility to fractures, Anemi... OMIM:612199
Cryptococcosis
Lymphoid leukemia, Osteolysis, Osteomyelitis ORPHA:1546
Celiac Disease, Susceptibility To, 1
Osteoporosis, Iron deficiency anemia, Thrombocytosis, Rickets, Decreased circulating IgA level, M... OMIM:212750
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand OMIM:226980
Osteogenesis Imperfecta, Type Xvi
Joint hypermobility, Osteopenia OMIM:616229
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia ORPHA:91348
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia ORPHA:2326
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Osteopenia, Camptodactyly, Generalized joint laxity ORPHA:432
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Osteopenia OMIM:212112
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint laxity OMIM:253000
Coccidioidomycosis
Osteolysis, Increased circulating IgM level, Granuloma, Increased circulating IgG level, Abnormal... ORPHA:228123
Dominant Beta-Thalassemia
Osteoporosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231226
Incontinentia Pigmenti
Camptodactyly of finger, Osteolysis, Eosinophilia, Spina bifida occulta ORPHA:464
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Joint laxity OMIM:253010
African Iron Overload
Osteoporosis ORPHA:139507
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Stuve-Wiedemann Syndrome
Osteoporosis, Flexion contracture of toe, Pathologic fracture, Knee flexion contracture, Contract... OMIM:601559
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening OMIM:617994
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Recurrent fractures, Reduced bone mineral density OMIM:619115
Kid Syndrome
Osteolysis, Arthritis ORPHA:477
Nail-Patella Syndrome
Osteoporosis, Limited elbow extension, Contracture of the distal interphalangeal joint of the fin... ORPHA:2614
Cushing Disease
Osteoporosis, Recurrent fractures ORPHA:96253
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint hypermobility, Pathologic fracture, Increased susceptibility to fractures OMIM:259770
Beta-Thalassemia Major
Osteoporosis, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231214
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Neutropenia, Reduced bone mineral density, Increased suscept... ORPHA:2909
Adrenomyodystrophy
Reduced bone mineral density ORPHA:977
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia ORPHA:157215
Lysinuric Protein Intolerance
Osteoporosis, Hemophagocytosis, Recurrent fractures, Thrombocytopenia, Splenomegaly, Anemia, Leuk... OMIM:222700
Glycogen Storage Disease Ib
Osteoporosis, Gout, Neutropenia OMIM:232220
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Osteomalacia, Ost... ORPHA:2671
Brittle Cornea Syndrome
Osteoporosis, Joint hyperflexibility, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Stüve-Wiedemann Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of finger, Flexion contracture, Recurr... ORPHA:3206
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Microcytic anemia, Multiple joint contractures, Generalized osteoporosis, Oste... ORPHA:2959
X Small Rings
Osteoporosis, Reduced bone mineral density, Joint laxity ORPHA:96201
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Reduced bone mineral density, Recurrent fractures ORPHA:137608
Cole-Carpenter Syndrome 1
Orbital craniosynostosis, Osteopenia, Recurrent fractures, Coronal craniosynostosis OMIM:112240
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Aromatase Deficiency
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:91
Familial Parathyroid Adenoma
Osteopenia, Generalized osteoporosis, Recurrent fractures ORPHA:99877
Chime Syndrome
Osteolysis, Acute leukemia ORPHA:3474
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Osteolysis ORPHA:1052
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteoporosis, Distal joint laxity, Generalized joint laxity, Joint hyperflexibility, Osteopenia, ... ORPHA:1900
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Joint laxity, Pathologic fracture, Osteopenia, Osteolytic defe... OMIM:102500
46,Xx Gonadal Dysgenesis
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density ORPHA:243
Farber Disease
Osteoporosis, Flexion contracture, Thrombocytopenia, Anemia, Hepatosplenomegaly, Arthritis ORPHA:333
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Recurrent fractures, Increased susceptibility to fractures, Bowing ... OMIM:166220
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis ORPHA:1517
Cleidocranial Dysplasia
Osteoporosis, Recurrent fractures, Decreased skull ossification, Spina bifida occulta ORPHA:1452
Primary Biliary Cholangitis
Osteoporosis, Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis, Abnormal erythrocyte enzyme level, Anemia, Splenomegaly ORPHA:264580
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... OMIM:245600
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Synostosis involving bones of the upper limbs, Neutropenia, ... ORPHA:221016
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398079
Dent Disease
Rickets, Recurrent fractures, Osteomalacia, Thin bony cortex, Delayed epiphyseal ossification, Sp... ORPHA:1652
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Glycogen Storage Disease Ia
Osteoporosis, Gout OMIM:232200
Rothmund-Thomson Syndrome Type 1
Abnormal trabecular bone morphology, Neutropenia, Finger symphalangism, Aplastic anemia, Anemia, ... ORPHA:221008
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Frank-Ter Haar Syndrome
Osteoporosis, Wide anterior fontanel, Camptodactyly, Cortical irregularity, Osteopenia OMIM:249420
Prolactinoma
Osteoporosis, Osteopenia ORPHA:2965
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia, Flexion contracture ORPHA:398069
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Reduced bone mineral density, Lymphopenia, Agammaglobulinemia, Anemia ORPHA:935
Primary Parathyroid Hyperplasia
Osteoporosis ORPHA:99878
Lathosterolosis
Osteoporosis, Increased mean platelet volume, Anisopoikilocytosis, Pathologic fracture, Acanthocy... OMIM:607330
Dyskeratosis Congenita
Osteoporosis, Abnormality of neutrophils, Recurrent fractures, Coarse metaphyseal trabecularizati... ORPHA:1775
Classic Homocystinuria
Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Joint laxity, Limited knee extension, Capitate-hamate fusion OMIM:304150
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger ORPHA:2232
Zygomycosis
Splenic abscess, Osteolysis, Neutropenia, Brain abscess ORPHA:73263
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Osteopenia ORPHA:98754
Prader-Willi Syndrome
Osteoporosis, Osteopenia OMIM:176270
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Joint laxity OMIM:225400
Prader-Willi Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:739
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Osteopenia ORPHA:98793
Lysinuric Protein Intolerance
Osteoporosis, Hemophagocytosis, Decreased circulating antibody level, Increased circulating antib... ORPHA:470
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Osteopenia ORPHA:177904
Multiple Endocrine Neoplasia Type 1
Reduced bone mineral density, Osteolysis, Increased susceptibility to fractures ORPHA:652
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Osteopenia ORPHA:177901
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, Reduced bone mineral density, Hypochromic anemia ORPHA:2720
Menkes Disease
Osteoporosis, Tarsal synostosis, Joint hyperflexibility, Recurrent fractures, Osteomyelitis ORPHA:565
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Increased bone mine... ORPHA:800
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... ORPHA:536467
17Q11 Microdeletion Syndrome
Osteoporosis, Osteolysis, Osteopenia, Leukemia, Thickened cortex of long bones ORPHA:97685
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Chronic neutropenia, Gout, Increased susceptibility to fractures, Abnormal myeloid ... ORPHA:79259
Tbck-Related Intellectual Disability Syndrome
Osteoporosis ORPHA:488632
Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398073
Hypermobile Ehlers-Danlos Syndrome
Joint hyperflexibility, Osteolysis, Osteoarthritis, Limitation of joint mobility ORPHA:285
Niemann-Pick Disease Type B
Osteoporosis, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Thrombocytopenia, Pathol... ORPHA:77293
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Osteoporosis, Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture... OMIM:271640
Primary Sclerosing Cholangitis
Osteoporosis, Polyclonal elevation of IgM, Splenomegaly, Osteopenia, Hepatosplenomegaly ORPHA:171
Dyskeratosis Congenita, X-Linked
Osteoporosis, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Bone ma... OMIM:305000
Congenital Disorder Of Deglycosylation
Osteoporosis OMIM:615273
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:168558
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteoporosis, Joint hypermobility, Osteopenia ORPHA:536545
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:289548
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Camptodactyly, Recurrent fractures ORPHA:3063
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis ORPHA:254892
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Joint hyperflexibility, Flexion contracture, Recurrent fractur... ORPHA:666
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:90796
Marfan Syndrome
Osteoporosis, Joint hypermobility, Arthralgia/arthritis, Limited elbow movement, Osteopenia ORPHA:558
Cranioectodermal Dysplasia 1
Osteoporosis, Joint laxity, Sagittal craniosynostosis OMIM:218330
Cockayne Syndrome B
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Limitation of joint mobility, Splenom... OMIM:133540
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteoporosis, Rickets, Abnormally ossified vertebrae, Osteomalacia, Osteopenia ORPHA:2636
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis ORPHA:99880
Cerebrotendinous Xanthomatosis
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:909
Parathyroid Carcinoma
Osteoporosis ORPHA:143
X-Linked Hypophosphatemia
Craniosynostosis, Rickets, Tooth abscess, Generalized osteosclerosis, Enthesitis, Reduced bone mi... ORPHA:89936
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Recurrent fractures ORPHA:99889
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteoporosis, Iron deficiency anemia, Flexion contracture, Joint contractures involving the joint... ORPHA:79408
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Osteopenia ORPHA:91347
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Osteolytic defects of the p... ORPHA:79474
Glycogen Storage Disease Due To Acid Maltase Deficiency
Osteoporosis, Flexion contracture ORPHA:365
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture OMIM:210730
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Radioulnar synostosis, Generalized joint laxity, Flexion contracture, Multip... ORPHA:536471
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Osteoporosis, Contractures of the joints of the lower limbs ORPHA:459070
Primrose Syndrome
Osteoporosis, Flexion contracture, Generalized osteoporosis, Knee flexion contracture, Hip contra... OMIM:259050
Aneurysm-Osteoarthritis Syndrome
Osteoporosis, Camptodactyly of finger, Joint laxity, Osteoarthritis of the small joints of the ha... ORPHA:284984
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis, Anemia ORPHA:79404
Loeys-Dietz Syndrome 2
Osteoporosis, Craniosynostosis, Joint laxity, Camptodactyly, Joint contracture of the hand OMIM:610168
Hutchinson-Gilford Progeria Syndrome
Osteolytic defects of the distal phalanges of the hand, Limited wrist movement, Limitation of mov... ORPHA:740
Vascular Ehlers-Danlos Syndrome
Joint hyperflexibility, Osteolysis, Osteoarthritis ORPHA:286
Singleton-Merten Syndrome 1
Osteoporosis, Osteolytic defects of the phalanges of the hand OMIM:182250
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteoporosis, Osteopenia, Joint laxity, Anemia ORPHA:438213
Pseudoaminopterin Syndrome
Patchy reduction of bone mineral density, Synostosis of carpal bones, Asplenia, Limited elbow mov... ORPHA:221120
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99413
Turner Syndrome
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:881
Mosaic Monosomy X
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99226
Williams Syndrome
Osteoporosis, Joint laxity, Radioulnar synostosis, Synostosis of joints, Joint hyperflexibility, ... ORPHA:904
Williams-Beuren Syndrome
Osteoporosis, Joint laxity, Radioulnar synostosis, Flexion contracture, Osteopenia OMIM:194050
Pmm2-Cdg
Osteoporosis, Joint laxity, Impaired neutrophil chemotaxis, Multiple joint contractures, Osteopenia ORPHA:79318

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 Tob2

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 Tob2.

No publications found that use IMPC mice or data for Tob2.

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MGI Allele Allele Type Produced
Tob2tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Tob2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tob2em1(IMPC)Ccpcz Whole-gene deletion Mice

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