Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
four and a half LIM domains 2
Synonyms:
SLIM3

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 Fhl2 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.

The table below shows human diseases associated to Fhl2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154

The table below shows human diseases predicted to be associated to Fhl2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Osteoporosis
Osteoporosis OMIM:166710
Cystic Angiomatosis Of Bone, Diffuse
Cystic angiomatosis of bone OMIM:123880
Hypogonadotropic Hypogonadism 21 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615271
Avascular Necrosis Of Femoral Head, Primary, 1
Generalized osteoporosis OMIM:608805
Superior Transverse Scapular Ligament, Calcification Of, Familial
Ectopic ossification in ligament tissue OMIM:601708
Hypogonadotropic Hypogonadism 19 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615269
Hypogonadotropic Hypogonadism 20 With Or Without Anosmia
Osteoporosis, Osteopenia OMIM:615270
Osteoporosis, Juvenile
Osteoporosis OMIM:259750
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
Ethanolaminosis
Cardiomegaly OMIM:227150
Neurologic Disease, Infantile Multisystem, With Osseous Fragility
Osteoporosis, Recurrent fractures OMIM:256720
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Generalized osteoporosis, Osteolysis involving bon... OMIM:277950
Ovarian Dysgenesis 1
Osteoporosis OMIM:233300
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Osteopenia And Sparse Hair
Osteopenia, Joint laxity OMIM:259690
Premature Ovarian Failure 2B
Osteoporosis OMIM:300604
Hyaline Fibromatosis Syndrome
Osteoporosis, Progressive flexion contractures, Osteolysis, Osteopenia OMIM:228600
Idiopathic Hypercalciuria
Osteoporosis, Osteopenia ORPHA:2197
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Osteoporosis, Generalized osteoporosis OMIM:601220
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Osteoporosis OMIM:204730
Buschke-Ollendorff Syndrome
Flexion contracture, Joint stiffness, Osteopoikilosis OMIM:166700
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:2787
Osteomesopyknosis
Increased bone mineral density OMIM:166450
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy
Osteoporosis, Contractures of the large joints OMIM:608278
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
Familial Hyperprolactinemia
Osteoporosis, Osteopenia ORPHA:397685
Osteomalacia, Sclerosing, With Cerebral Calcification
Osteomalacia, Generalized osteosclerosis, Increased bone mineral density OMIM:259660
Gnathodiaphyseal Dysplasia
Osteopenia, Increased susceptibility to fractures, Osteomyelitis, Diaphyseal cortical sclerosis OMIM:166260
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Hypercholanemia, Familial, 2
Osteopenia OMIM:619256
Distal Osteosclerosis
Hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis OMIM:126250
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Osteoporosis, Joint laxity OMIM:616033
Flynn-Aird Syndrome
Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral... OMIM:136300
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612287
Forsythe-Wakeling Syndrome
Osteoporosis OMIM:613606
Idiopathic Juvenile Osteoporosis
Osteoporosis, Recurrent fractures ORPHA:85193
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density OMIM:602475
Isolated Glycerol Kinase Deficiency
Osteoporosis ORPHA:408
Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance
Osteoporosis, Recurrent fractures, Joint laxity OMIM:248010
Hypergonadotropic Hypogonadism-Cataract Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2410
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Moderate generalized osteoporosis OMIM:166230
Dentin Dysplasia
Increased bone mineral density ORPHA:1653
Mitochondrial Complex I Deficiency, Nuclear Type 11
Osteoporosis OMIM:618234
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteoporosis, Osteopenia, Increased susceptibility to fractures OMIM:612286
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Osteoporosis ORPHA:2786
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Craniosynostosis, Increased bone mineral density OMIM:241520
Osteomesopyknosis
Abnormal cortical bone morphology, Increased bone mineral density ORPHA:2777
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Generalized osteoporosis OMIM:613849
Dacryocystitis-Osteopoikilosis Syndrome
Osteopoikilosis, Increased bone mineral density ORPHA:1562
Mu-Heavy Chain Disease
Osteoporosis, Osteolysis ORPHA:100024
Congenital Bile Acid Synthesis Defect Type 2
Osteoporosis ORPHA:79303
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis ORPHA:71267
Ovarian Dysgenesis 8
Osteoporosis OMIM:618187
Hyperzincemia With Functional Zinc Depletion
Osteoporosis OMIM:601979
Bruck Syndrome 1
Osteoporosis, Joint laxity, Increased susceptibility to fractures, Knee flexion contracture, Hip ... OMIM:259450
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Osteopenia, Recurrent fractures OMIM:126550
Van Buchem Disease
Cranial hyperostosis, Thickened cortex of long bones, Increased bone mineral density OMIM:239100
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Osteoporosis ORPHA:2958
Thrombocytopenia 6
Osteoporosis, Myelofibrosis OMIM:616937
Shashi-Pena Syndrome
Osteoporosis OMIM:617190
Glycosylphosphatidylinositol Biosynthesis Defect 15
Osteoporosis, Osteopenia OMIM:617810
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia OMIM:610539
Rothmund-Thomson Syndrome, Type 1
Osteoporosis OMIM:618625
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Osteoarthr... ORPHA:2114
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia
Osteoporosis OMIM:614838
Prieto X-Linked Mental Retardation Syndrome
Osteoporosis OMIM:309610
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Osteoporosis OMIM:610628
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Camptodactyly, Knee flexion contracture, Joint ... OMIM:214150
Juvenile Paget Disease
Osteoporosis, Cranial hyperostosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:2801
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Joint laxity OMIM:614727
Analbuminemia
Osteoporosis OMIM:616000
Bruck Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Recurrent fractures, Joint stiffness ORPHA:2771
Congenital Bile Acid Synthesis Defect Type 1
Osteoporosis ORPHA:79301
Diabetes Insipidus, Neurohypophyseal
Osteopenia OMIM:125700
Perrault Syndrome 1
Osteoporosis OMIM:233400
Menkes Disease
Osteoporosis, Joint laxity OMIM:309400
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Osteopenia, Fractures of the long bones ORPHA:319195
Hemochromatosis Type 2
Osteoporosis ORPHA:79230
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Increased bone mineral density OMIM:614856
Premature Aging Syndrome, Okamoto Type
Osteoporosis OMIM:601811
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Osteoporosis, Camptodactyly OMIM:616006
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Cortical thickening of long bone diaphyses, Increased bone mineral density OMIM:166740
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteoporosis, Osteopenia ORPHA:369
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Joint laxity ORPHA:2788
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Osteolysis, Flexion contrac... OMIM:614008
Pseudopseudohypoparathyroidism
Osteoporosis OMIM:612463
Lichtenstein Syndrome
Osteoporosis, Increased susceptibility to fractures OMIM:246550
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Osteoporosis, Camptodactyly of finger ORPHA:48431
Warburg Micro Syndrome 1
Osteoporosis, Joint hypermobility OMIM:600118
Glycerol Kinase Deficiency
Osteoporosis, Pathologic fracture OMIM:307030
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteoporosis, Osteopenia ORPHA:529665
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology ORPHA:970
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hyperparathyroidism 4
Osteopenia OMIM:617343
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Osteoarthritis, Limitation of joint mobility, Synostosis of carpal bones ORPHA:93351
Sialidosis Type 2
Osteoporosis, Flexion contracture ORPHA:87876
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia OMIM:615923
Mycetoma
Osteoporosis, Bone cyst, Painless fractures due to injury, Pathologic fracture, Osteomyelitis, Ab... ORPHA:2583
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Joint stiffness, Joint contracture of the hand, Osteoarthr... OMIM:208230
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Recurrent fractures, Increased susceptibility to fractures OMIM:615066
Pigmented Villonodular Synovitis
Limitation of joint mobility, Localized osteoporosis, Joint stiffness, Osteolysis ORPHA:66627
Cranioectodermal Dysplasia
Osteoporosis, Joint hyperflexibility, Craniosynostosis ORPHA:1515
Hall-Riggs Mental Retardation Syndrome
Osteoporosis OMIM:234250
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Synovitis, Reduced bone mineral density, Symmetric polyarthritis, Osteopenia, Limitation of joint... ORPHA:85435
Indolent Systemic Mastocytosis
Osteoporosis ORPHA:98848
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Osteoporosis ORPHA:189427
Osteogenesis Imperfecta, Type Xvii
Osteoporosis OMIM:616507
Amish Lethal Microcephaly
Osteoporosis, Limitation of joint mobility, Decreased skull ossification ORPHA:99742
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Recurrent fractures OMIM:619131
Primary Pigmented Nodular Adrenocortical Disease
Osteoporosis, Increased susceptibility to fractures ORPHA:189439
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Joint laxity, Recurrent fractures, Generalized osteoporosis, Thin bony cortex OMIM:617952
Urban-Rogers-Meyer Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of toe, Recurrent fractures ORPHA:3409
Hutchinson-Gilford Progeria Syndrome
Osteolysis, Generalized osteoporosis OMIM:176670
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Osteoarthritis OMIM:618000
Familial Isolated Hyperparathyroidism
Osteopenia, Generalized osteoporosis ORPHA:99879
Hypophosphatasia, Adult
Rickets, Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to frac... OMIM:146300
Duchenne And Becker Muscular Dystrophy
Reduced bone mineral density, Joint stiffness ORPHA:262
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteoporosis, Osteopenia OMIM:615830
Werner Syndrome
Osteoporosis OMIM:277700
Peroxisome Biogenesis Disorder 3B
Osteoporosis OMIM:266510
Paget Disease Of Bone 5, Juvenile-Onset
Osteoporosis, Recurrent fractures, Ankylosis, Increased bone mineral density OMIM:239000
Pyle Disease
Limited elbow extension, Reduced bone mineral density OMIM:265900
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
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteoporosis, Osteolysis, Osteolysis involving bones of the upper limbs, Osteolysis involving bon... ORPHA:371428
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
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
Estrogen Resistance Syndrome
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:785
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Osteoporosis, Reduced bone mineral density, Recurrent fractures ORPHA:2235
Geroderma Osteodysplasticum
Osteoporosis, Camptodactyly, Recurrent fractures, Increased susceptibility to fractures, Osteopen... OMIM:231070
Spondylo-Ocular Syndrome
Osteoporosis, Joint hyperflexibility ORPHA:85194
Infantile Systemic Hyalinosis
Osteoporosis, Camptodactyly of finger, Recurrent fractures, Osteomalacia, Joint stiffness, Increa... ORPHA:2176
Dermatosparaxis Ehlers-Danlos Syndrome
Osteoporosis, Rickets, Joint hyperflexibility, Osteomalacia, Joint stiffness, Osteopenia ORPHA:1901
Coxoauricular Syndrome
Reduced bone mineral density ORPHA:1508
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteoporosis, Osteolytic defects of the phalanges of the hand, Osteopenia, Limitation of joint mo... OMIM:259100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Osteoporosis, Flexion contracture OMIM:615381
Spondyloepiphyseal Dysplasia Tarda
Limited wrist movement, Localized osteoporosis, Osteoarthritis of the distal interphalangeal join... ORPHA:93284
Acth-Independent Macronodular Adrenal Hyperplasia
Osteoporosis, Osteopenia OMIM:219080
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Geroderma Osteodysplastica
Osteoporosis, Joint hyperflexibility, Abnormal bone ossification, Recurrent fractures ORPHA:2078
Classic Galactosemia
Osteoporosis, Reduced bone mineral density ORPHA:79239
Odontochondrodysplasia 1
Osteoporosis, Joint hypermobility, Delayed ossification of carpal bones OMIM:184260
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Recurrent fractures, Severe generalized osteoporosis, Multiple ... OMIM:259420
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Osteoporosis, Generalized osteoporosis, Limitation of joint mobility OMIM:236200
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Renal Tubular Acidosis Iii
Rickets, Osteomalacia OMIM:267200
Desbuquois Dysplasia 1
Osteoporosis, Advanced tarsal ossification, Joint laxity, Advanced ossification of carpal bones, ... OMIM:251450
Cantu Syndrome
Osteoporosis OMIM:239850
Hemochromatosis, Type 1
Osteoporosis OMIM:235200
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Osteoporosis, Recurrent fractures, Hyperextensibility of the finger joints OMIM:309583
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteoporosis, Metatarsal osteolysis, Camptodactyly of toe, Metacarpal osteolysis, Interphalangeal... OMIM:259600
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Perrault Syndrome 4
Osteoporosis OMIM:615300
Schwartz-Jampel Syndrome, Type 1
Osteoporosis, Flexion contracture of toe, Wrist flexion contracture, Joint contracture of the han... OMIM:255800
Fanconi Renotubular Syndrome 2
Rickets, Osteopenia OMIM:613388
Richards-Rundle Syndrome
Reduced bone mineral density, Joint stiffness ORPHA:1399
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis ORPHA:73272
Sickle Cell Anemia
Osteoporosis, Osteomyelitis ORPHA:232
Pseudohypoparathyroidism, Type Ic
Osteoporosis OMIM:612462
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Xp21 Deletion Syndrome
Osteoporosis, Reduced bone mineral density, Joint laxity ORPHA:261476
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteoporosis, Osteopenia OMIM:615398
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Wilson Disease
Osteoporosis, Joint hypermobility, Osteomalacia, Osteoarthritis OMIM:277900
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Pontocerebellar Hypoplasia, Type 2E
Osteoporosis, Flexion contracture OMIM:615851
Macs Syndrome
Osteoporosis, Joint hypermobility OMIM:613075
Dyskeratosis Congenita, Autosomal Dominant 2
Osteoporosis OMIM:613989
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Lowry-Maclean Syndrome
Osteoporosis, Osteopenia, Craniosynostosis ORPHA:2409
Beta-Thalassemia Intermedia
Osteoporosis, Osteopenia, Increased susceptibility to fractures, Reduced bone mineral density ORPHA:231222
Aggressive Systemic Mastocytosis
Osteoporosis, Pathologic fracture, Osteolysis ORPHA:98850
19P13.3 Microduplication Syndrome
Osteoporosis ORPHA:447980
Pseudohypoparathyroidism, Type Ia
Osteoporosis OMIM:103580
Progressive Pseudorheumatoid Arthropathy Of Childhood
Camptodactyly, Abnormality of hand joint mobility, Generalized osteoporosis, Joint contracture of... ORPHA:1159
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Reduced bone mineral density, Abnormally ossified vertebrae, Limited elbow movement ORPHA:94068
Propionic Acidemia
Osteoporosis OMIM:606054
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening OMIM:617994
Diamond-Blackfan Anemia 7
Osteoporosis, Osteopenia OMIM:612562
Symptomatic Form Of Hemochromatosis Type 1
Osteoporosis, Joint stiffness, Stiff interphalangeal joints, Arthritis ORPHA:465508
Niemann-Pick Disease, Type A
Osteoporosis OMIM:257200
Methylcobalamin Deficiency Type Cble
Osteoporosis ORPHA:2169
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Osteoporosis, Irregular tarsal ossification, Ivory epiphyses of the phalanges of the hand OMIM:226980
Functioning Gonadotropic Adenoma
Osteoporosis, Osteopenia ORPHA:91348
Pancreatic Triacylglycerol Lipase Deficiency
Osteoporosis, Rickets, Osteomalacia ORPHA:309031
Pachydermoperiostosis
Osteoporosis, Osteomyelitis, Osteolysis, Abnormal cortical bone morphology, Limitation of joint m... ORPHA:2796
Normosmic Congenital Hypogonadotropic Hypogonadism
Osteoporosis, Osteopenia, Camptodactyly, Generalized joint laxity ORPHA:432
Stuve-Wiedemann Syndrome
Osteoporosis, Flexion contracture of toe, Pathologic fracture, Knee flexion contracture, Contract... OMIM:601559
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Nail-Patella Syndrome
Osteoporosis, Limited elbow extension, Contracture of the distal interphalangeal joint of the fin... ORPHA:2614
Kallmann Syndrome-Heart Disease Syndrome
Osteoporosis, Osteopenia ORPHA:2326
Lipodystrophy, Congenital Generalized, Type 4
Osteoporosis, Osteopenia, Flexion contracture OMIM:613327
Mucopolysaccharidosis, Type Iva
Osteoporosis, Joint laxity OMIM:253000
Mucopolysaccharidosis, Type Ivb
Osteoporosis, Joint laxity OMIM:253010
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
African Iron Overload
Osteoporosis ORPHA:139507
Neu-Laxova Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Rickets, Flexion contracture, Osteomalacia, Ost... ORPHA:2671
Osteoporosis-Pseudoglioma Syndrome
Osteoporosis, Joint hypermobility, Pathologic fracture, Increased susceptibility to fractures OMIM:259770
Refractory Celiac Disease
Osteoporosis ORPHA:398063
Cushing Disease
Osteoporosis, Recurrent fractures ORPHA:96253
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1
Joint hypermobility, Recurrent fractures, Reduced bone mineral density OMIM:619115
Stüve-Wiedemann Syndrome
Osteoporosis, Camptodactyly of finger, Flexion contracture of finger, Flexion contracture, Recurr... ORPHA:3206
Mastocytosis
Osteoporosis, Recurrent fractures ORPHA:98292
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Osteopetrosis With Renal Tubular Acidosis
Reduced bone mineral density, Recurrent fractures, Osteopetrosis ORPHA:2785
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Reduced bone mineral density, Hypophosphatemic rickets, Pathologic fracture, Osteomalacia ORPHA:157215
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Brittle Cornea Syndrome
Osteoporosis, Joint hyperflexibility, Camptodactyly, Increased susceptibility to fractures ORPHA:90354
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteoporosis, Distal joint laxity, Generalized joint laxity, Joint hyperflexibility, Osteopenia, ... ORPHA:1900
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Atrial septal defect, Cardiomegaly, Ventricular septal defect OMIM:618652
X Small Rings
Osteoporosis, Reduced bone mineral density, Joint laxity ORPHA:96201
Familial Parathyroid Adenoma
Osteopenia, Generalized osteoporosis, Recurrent fractures ORPHA:99877
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... OMIM:245600
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteoporosis, Osteopenia, Pathologic fracture, Increased susceptibility to fractures OMIM:612199
Aromatase Deficiency
Osteoporosis, Osteopenia, Delayed epiphyseal ossification ORPHA:91
Dyskeratosis Congenita, Autosomal Recessive 1
Osteoporosis OMIM:224230
Osteogenesis Imperfecta, Type Iv
Reduced bone mineral density, Recurrent fractures, Increased susceptibility to fractures, Bowing ... OMIM:166220
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Pituitary Adenoma 4, Acth-Secreting
Osteoporosis OMIM:219090
46,Xx Gonadal Dysgenesis
Osteopenia, Osteoporosis of vertebrae, Reduced bone mineral density ORPHA:243
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Progeria-Short Stature-Pigmented Nevi Syndrome
Osteopenia, Multiple joint contractures, Generalized osteoporosis ORPHA:2959
Sim1-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398079
Dyskeratosis Congenita, Autosomal Dominant 3
Osteoporosis OMIM:613990
Cerebrotendinous Xanthomatosis
Osteoporosis OMIM:213700
Celiac Disease, Susceptibility To, 1
Osteoporosis, Rickets OMIM:212750
Dyskeratosis Congenita, Autosomal Dominant 1
Osteoporosis OMIM:127550
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis ORPHA:1517
Cleidocranial Dysplasia
Osteoporosis, Recurrent fractures, Decreased skull ossification ORPHA:1452
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Werner Syndrome
Osteoporosis, Joint stiffness, Increased bone mineral density ORPHA:902
Primary Intestinal Lymphangiectasia
Osteoporosis ORPHA:90362
Hajdu-Cheney Syndrome
Foot acroosteolysis, Osteoporosis, Joint laxity, Pathologic fracture, Osteopenia, Osteolytic defe... OMIM:102500
Magel2-Related Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia, Flexion contracture ORPHA:398069
Farber Disease
Osteoporosis, Flexion contracture, Arthritis ORPHA:333
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Glycogen Storage Disease Ia
Osteoporosis, Gout OMIM:232200
Prolactinoma
Osteoporosis, Osteopenia ORPHA:2965
Glycogen Storage Disease Ib
Osteoporosis, Gout OMIM:232220
Frank-Ter Haar Syndrome
Cortical irregularity, Osteopenia, Camptodactyly, Osteoporosis OMIM:249420
Systemic Mastocytosis With Associated Hematologic Neoplasm
Osteoporosis, Increased susceptibility to fractures ORPHA:98849
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Osteoporosis ORPHA:264580
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Primary Parathyroid Hyperplasia
Osteoporosis ORPHA:99878
Classic Homocystinuria
Osteoporosis, Recurrent fractures, Joint stiffness ORPHA:394
Schwartz-Jampel Syndrome
Osteoporosis, Arthrogryposis multiplex congenita, Flexion contracture of toe, Increased bone mine... ORPHA:800
Occipital Horn Syndrome
Osteoporosis, Limited elbow extension, Joint laxity, Limited knee extension, Capitate-hamate fusion OMIM:304150
Prader-Willi Syndrome
Osteoporosis, Osteopenia OMIM:176270
Prader-Willi Syndrome
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:739
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteoporosis, Osteopenia ORPHA:98754
Dominant Beta-Thalassemia
Osteoporosis ORPHA:231226
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteoporosis, Joint hypermobility, Craniosynostosis, Radioulnar synostosis, Recurrent fractures, ... ORPHA:536467
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteoporosis, Osteopenia, Contracture of the proximal interphalangeal joint of the 5th finger ORPHA:2232
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Osteoporosis, Osteopenia ORPHA:98793
Occipital Horn Syndrome
Osteoporosis, Osteolysis, Synostosis of joints, Rickets, Joint hyperflexibility, Osteomalacia, Os... ORPHA:198
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Osteoporosis, Osteopenia ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteoporosis, Osteopenia ORPHA:177901
Hajdu-Cheney Syndrome
Osteoporosis, Osteolysis, Joint hyperflexibility, Recurrent fractures, Coarse metaphyseal trabecu... ORPHA:955
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
Primary Biliary Cholangitis
Osteoporosis ORPHA:186
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteoporosis, Joint laxity OMIM:225400
Menkes Disease
Osteoporosis, Tarsal synostosis, Joint hyperflexibility, Recurrent fractures, Osteomyelitis ORPHA:565
Hepatoerythropoietic Porphyria
Osteoporosis, Osteopenia, Osteolysis ORPHA:95159
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Tbck-Related Intellectual Disability Syndrome
Osteoporosis ORPHA:488632
Prader-Willi-Like Syndrome
Osteoporosis, Osteopenia ORPHA:398073
Beta-Thalassemia Major
Osteoporosis ORPHA:231214
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Osteoporosis, Joint laxity, Delayed proximal femoral epiphyseal ossification, Flexion contracture... OMIM:271640
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteoporosis, Joint hypermobility, Osteopenia ORPHA:536545
Lathosterolosis
Osteoporosis, Pathologic fracture OMIM:607330
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:168558
Osteogenesis Imperfecta
Osteoporosis, Joint hypermobility, Joint hyperflexibility, Flexion contracture, Recurrent fractur... ORPHA:666
Lysinuric Protein Intolerance
Osteoporosis, Recurrent fractures OMIM:222700
X-Linked Intellectual Disability, Snyder Type
Osteoporosis, Camptodactyly, Recurrent fractures ORPHA:3063
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:289548
Congenital Disorder Of Deglycosylation
Osteoporosis OMIM:615273
Autosomal Dominant Progressive External Ophthalmoplegia
Osteoporosis ORPHA:254892
Rothmund-Thomson Syndrome, Type 2
Osteoporosis OMIM:268400
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Marfan Syndrome
Osteoporosis, Joint hypermobility, Arthralgia/arthritis, Limited elbow movement, Osteopenia ORPHA:558
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Dyskeratosis Congenita
Osteoporosis, Recurrent fractures, Coarse metaphyseal trabecularization ORPHA:1775
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteoporosis, Rickets, Abnormally ossified vertebrae, Osteomalacia, Osteopenia ORPHA:2636
Cranioectodermal Dysplasia 1
Osteoporosis, Joint laxity, Sagittal craniosynostosis OMIM:218330
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteoporosis, Osteopenia, Gout, Increased susceptibility to fractures ORPHA:79259
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Osteoporosis, Reduced bone mineral density ORPHA:90796
Cockayne Syndrome B
Osteoporosis, Ivory epiphyses of the phalanges of the hand, Limitation of joint mobility OMIM:133540
Cerebrotendinous Xanthomatosis
Osteoporosis, Osteopenia, Increased susceptibility to fractures ORPHA:909
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Primary Sclerosing Cholangitis
Osteoporosis, Osteopenia ORPHA:171
Congenital Erythropoietic Porphyria
Osteoporosis, Osteopenia, Osteolysis ORPHA:79277
Hyperparathyroidism-Jaw Tumor Syndrome
Osteoporosis ORPHA:99880
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Tsh-Secreting Pituitary Adenoma
Osteoporosis, Osteopenia ORPHA:91347
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Parathyroid Carcinoma
Osteoporosis ORPHA:143
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Cushing Syndrome Due To Ectopic Acth Secretion
Osteoporosis, Recurrent fractures ORPHA:99889
Glycogen Storage Disease Due To Acid Maltase Deficiency
Osteoporosis, Flexion contracture ORPHA:365
Glycogen Storage Disease Ii
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:232300
Atypical Werner Syndrome
Osteoporosis, Sclerosis of hand bone, Increased bone mineral density, Osteolytic defects of the p... ORPHA:79474
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Severe generalized osteoporosis, Knee flexion contracture OMIM:210730
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteoporosis, Osteopenia, Flexion contracture, Joint contractures involving the joints of the feet ORPHA:79408
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Radioulnar synostosis, Generalized joint laxity, Flexion contracture, Multip... ORPHA:536471
Wolf-Hirschhorn Syndrome
Osteoporosis ORPHA:280
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Generalized osteoporosis ORPHA:391487
Lysinuric Protein Intolerance
Osteoporosis, Osteopenia, Pathologic fracture ORPHA:470
Niemann-Pick Disease Type B
Osteoporosis, Osteopenia, Pathologic fracture ORPHA:77293
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Enlarged kidney OMIM:608836
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:268800
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Primrose Syndrome
Osteoporosis, Flexion contracture, Generalized osteoporosis, Knee flexion contracture, Hip contra... OMIM:259050
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Osteoporosis, Contractures of the joints of the lower limbs ORPHA:459070
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Dyskeratosis Congenita, X-Linked
Osteoporosis OMIM:305000
46,Xy Partial Gonadal Dysgenesis
Osteoporosis ORPHA:251510
Aneurysm-Osteoarthritis Syndrome
Osteoporosis, Camptodactyly of finger, Joint laxity, Osteoarthritis of the small joints of the ha... ORPHA:284984
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Hepatomegaly, Pulmonic stenosis, Cardiomegaly, S... OMIM:602782
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Loeys-Dietz Syndrome 2
Osteoporosis, Craniosynostosis, Joint laxity, Camptodactyly, Joint contracture of the hand OMIM:610168
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Abnormal heart morphology, Abnormal heart valve morphol... ORPHA:3384
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99413
Mosaic Monosomy X
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99228
Monosomy X
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:99226
Turner Syndrome
Osteoporosis, Osteopenia, Reduced bone mineral density ORPHA:881
Severe Generalized Junctional Epidermolysis Bullosa
Osteoporosis ORPHA:79404
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Williams Syndrome
Osteoporosis, Joint laxity, Radioulnar synostosis, Synostosis of joints, Joint hyperflexibility, ... ORPHA:904
17Q11 Microdeletion Syndrome
Osteoporosis, Osteopenia, Osteolysis, Thickened cortex of long bones ORPHA:97685
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Osteoporosis, Osteopenia, Joint laxity ORPHA:438213
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:252500
Williams-Beuren Syndrome
Osteoporosis, Joint laxity, Radioulnar synostosis, Flexion contracture, Osteopenia OMIM:194050
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Single ventricle, Vent... ORPHA:99125
Singleton-Merten Syndrome 1
Osteoporosis, Osteolytic defects of the phalanges of the hand OMIM:182250
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... ORPHA:581
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Cardiomegaly, Lef... OMIM:300967
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:96191
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Cardiomegaly, Bicuspid aortic valve ORPHA:91387
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Aicardi-Goutières Syndrome
Hepatosplenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:51
Beckwith-Wiedemann Syndrome
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... ORPHA:116
Pmm2-Cdg
Osteoporosis, Osteopenia, Multiple joint contractures, Joint laxity ORPHA:79318
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Cardiomyopathy ORPHA:3472
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040
Generalized Arterial Calcification Of Infancy
Pericardial effusion, Ventricular hypertrophy, Cardiomegaly, Myocardial calcification ORPHA:51608
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy ORPHA:154

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 Fhl2

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 Fhl2.

No publications found that use IMPC mice or data for Fhl2.

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MGI Allele Allele Type Produced
Fhl2tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fhl2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Fhl2tm88527(L1L2_Bact_P) Targeting vectors

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