Gene: Irak3 MGI:1921164

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

interleukin-1 receptor-associated kinase 3

Synonyms:

4833428C18Rik, IRAK-M

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 Irak3 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 Irak3 (0 diseases)
Human diseases predicted to be associated with Irak3 (709 diseases)

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

The table below shows human diseases predicted to be associated to Irak3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal metaphysis morphology, Ane...	ORPHA:1802
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat...	OMIM:615615
Immunodeficiency 24	Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level...	OMIM:615897
Osteomesopyknosis	Increased bone mineral density, Scoliosis, Abnormal cortical bone morphology, Kyphosis, Sclerotic...	ORPHA:2777
Osteochondrosis Of The Metatarsal Bone	Sclerosis of foot bone, Joint stiffness, Abnormality of the fifth metatarsal bone, Chondritis, Ab...	ORPHA:564003
Insulin Autoimmune Syndrome	Fasting hypoglycemia, Autoimmunity, Increased circulating antibody level, Arthralgia/arthritis, N...	ORPHA:411593
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Weismann-Netter Syndrome	Abnormality of femur morphology, Scoliosis, Abnormality of fibula morphology, Abnormal cortical b...	ORPHA:3344
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Autoimmune Lymphoproliferative Syndrome	Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ...	OMIM:601859
Eiken Syndrome	Epiphyseal dysplasia, Abnormal fingertip morphology, Short phalanx of finger, Abnormal trabecular...	ORPHA:79106
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmunity, Increased CD4:CD8 ratio...	OMIM:617006
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity	OMIM:609529
Melorheostosis With Osteopoikilosis	Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone...	ORPHA:1879
Gnathodiaphyseal Dysplasia	Scoliosis, Osteopenia, Thickened cortex of long bones, Recurrent fractures, Mandibular osteomyeli...	ORPHA:53697
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Diaphyseal thickening, Cranial hyp...	ORPHA:3416
Sclerosteosis	Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndactyly, Abnormal cortic...	ORPHA:3152
Metatropic Dysplasia	Camptodactyly of finger, Scoliosis, Abnormal cortical bone morphology, Abnormal metaphysis morpho...	ORPHA:2635
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Autoimmunity, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia,...	ORPHA:277
Brachyolmia Type 1, Hobaek Type	Scoliosis, Short neck, Flat acetabular roof, Sclerotic foci of metaphyses of the elbow, Short ili...	OMIM:271530
Hip Dysplasia, Beukes Type	Scoliosis, Hip dysplasia, Abnormality of bone mineral density, Osteoarthritis, Kyphosis, Abnormal...	ORPHA:2114
Tn Polyagglutination Syndrome	Autoimmunity, Abnormal erythrocyte morphology	OMIM:300622
Hereditary Sensory And Autonomic Neuropathy Type 2	Reduced bone mineral density, Osteolysis, Abnormal cortical bone morphology, Abnormal hip bone mo...	ORPHA:970
Caffey Disease	Calvarial hyperostosis, Scoliosis, Increased circulating antibody level, Cortical thickening of l...	ORPHA:1310
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Diabetes Mellitus, Ketosis-Prone	Diabetes mellitus, Autoimmunity, Beta-cell dysfunction, Insulin resistance	OMIM:612227
Pyle Disease	Limited elbow extension, Reduced bone mineral density, Scoliosis, Metaphyseal widening, Platyspon...	OMIM:265900
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Rickets of the lower limbs, Genu varum, Bulging epiphyses, Bowing of the long bones, Del...	OMIM:600785
Immunodeficiency 64 With Lymphoproliferation	Increased circulating IgA level, Hepatosplenomegaly, Decreased proportion of CD4-positive T cells...	OMIM:618534
Metaphyseal Dysplasia, Braun-Tinschert Type	Scoliosis, Broad long bones, Broad femoral head, Sclerosis of middle finger phalanx, Broad radial...	ORPHA:85188
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of limb bone morphology, Increased bone mineral density, Abnormal cortical bone morph...	ORPHA:2204
Reticular Dysgenesis	Hypoplasia of the thymus, Leukopenia, Lymphopenia, Impaired T cell function, Lack of T cell funct...	OMIM:267500
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Ck Syndrome	Scoliosis, Abnormal cortical bone morphology, Kyphosis, Abnormal digit morphology, Joint hypermob...	OMIM:300831
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ...	OMIM:603909
Immunodeficiency, Common Variable, 1	Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo...	OMIM:607594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop...	ORPHA:444463
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Autoimmune thromb...	OMIM:300853
Caspase 8 Deficiency	Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ...	OMIM:607271
Cranio-Osteoarthropathy	Deviation of finger, Abnormal cortical bone morphology, Joint stiffness, Osteoarthritis, Arthriti...	ORPHA:1525
Proteus Syndrome	Calvarial hyperostosis, Facial hyperostosis, Mandibular hyperostosis, Spinal canal stenosis, Thin...	OMIM:176920
Cernunnos-Xlf Deficiency	Autoimmunity, Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Decreased circulating ant...	ORPHA:169079
Familial Partial Lipodystrophy, Köbberling Type	Diabetes mellitus, Pancreatitis, Hepatomegaly, Hyperinsulinemia, Hepatic steatosis, Insulin resis...	ORPHA:79084
Immunodeficiency 81	Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Ski...	OMIM:619374
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Ras-Associated Autoimmune Leukoproliferative Disorder	Autoimmunity, Increased circulating antibody level, Hemolytic anemia, Autoimmune thrombocytopenia...	OMIM:614470
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Immunodeficiency, Common Variable, 2	Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Recurrent ...	OMIM:240500
Wiskott-Aldrich Syndrome 2	Eczema, Reduced natural killer cell activity, Thrombocytopenia, Decreased proportion of CD8-posit...	OMIM:614493
Winchester Syndrome	Generalized osteoporosis, Broad metacarpals, Kyphosis, Carpal osteolysis, Osteolysis involving ta...	OMIM:277950
Metatropic Dysplasia	Scoliosis, Relatively short spine, Anisospondyly, Flared iliac wing, Halberd-shaped pelvis, Metap...	OMIM:156530
Chilblain Lupus	Malar rash, Inflammatory abnormality of the skin, Increased circulating antibody level, Chronic m...	ORPHA:90280
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Abnormal cortical bone morphology, Pathologic fracture, Upper limb undergrowth, Limitation of joi...	ORPHA:166277
Mahvash Disease	Increased glucagon level, Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent...	OMIM:619290
Spondylometaphyseal Dysplasia, Pagnamenta Type	Thoracic kyphosis, Short 4th metacarpal, Platyspondyly, Broad thumb, Femoral bowing, Short 5th me...	OMIM:619638
Immunodeficiency 25	Increased circulating IgA level, Decreased circulating IgG2 level, Increased circulating IgE leve...	OMIM:610163
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hepatosplenomegaly, Impaired oxidative burst, Hemolytic anemia, Abscess, Rheumatoid factor positi...	OMIM:618935
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus	OMIM:246650
Osteogenesis Imperfecta, Type Xxii	Reduced bone mineral density, Multiple prenatal fractures, Slender long bone, Multiple small vert...	OMIM:619795
Angioosteohypotrophic Syndrome	Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abnormal trabecular bone mo...	ORPHA:75508
Familial Expansile Osteolysis	Thin bony cortex, Osteolysis, Pathologic fracture, Bowing of the long bones	OMIM:174810
Lethal Congenital Contracture Syndrome Type 1	Abnormal cortical bone morphology, Short neck, Abnormal hip bone morphology, Slender long bone, L...	ORPHA:1486
Spondylometaphyseal Dysplasia, Kozlowski Type	Short distal phalanx of finger, Scoliosis, Short greater sciatic notch, Absent epiphyses of the p...	ORPHA:93314
Gorham-Stout Disease	Patchy reduction of bone mineral density, Osteolysis, Pathologic fracture, Osteolysis involving b...	ORPHA:73
Metaphyseal Chondrodysplasia, Schmid Type	Hip dysplasia, Radial metaphyseal irregularity, Metaphyseal cupping, Metaphyseal irregularity, Pr...	ORPHA:174
Immunodeficiency 11	Reduced antigen-specific T cell proliferation, Monocytopenia, Agammaglobulinemia, Decreased circu...	OMIM:615206
Grant Syndrome	Abnormal cortical bone morphology, Bowing of the long bones, Abnormality of the glenoid fossa, De...	ORPHA:2097
Pseudoachondroplasia	Short distal phalanx of finger, Scoliosis, Radial metaphyseal irregularity, Osteoarthritis, Irreg...	OMIM:177170
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatosplenomegaly, Decreased circulating total IgM, Abnormal B cell count, Autoimmunity, Skin ra...	ORPHA:331206
Parastremmatic Dwarfism	Scoliosis, Short neck, Kyphosis, Flexion contracture, Genu valgum, Bowing of the long bones	OMIM:168400
Eosinophilopenia	Allergic rhinitis, Autoimmunity, Decreased eosinophil count	OMIM:131430
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Slender long bones with narrow diaphyses, Osteopenia	ORPHA:50811
Immunodeficiency By Defective Expression Of Mhc Class Ii	Neutropenia in presence of anti-neutropil antibodies, Acute otitis media, Autoimmunity, Skin rash...	ORPHA:572
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatosplenomegaly, Absent isohemagglutinin level, Decreased proportion of memory B cells, Decrea...	OMIM:615559
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Recurrent otitis media, Re...	OMIM:617585
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmunity, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic int...	OMIM:618495
Melnick-Needles Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Hip dislocation, Abnormal c...	ORPHA:2484
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po...	OMIM:619375
Macrophage Activation Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat...	ORPHA:158061
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul...	OMIM:600081
Caffey Disease	Calvarial hyperostosis, Bowing of the legs, Cortical irregularity, Joint hypermobility, Periostea...	OMIM:114000
Pachydermoperiostosis	Eczematoid dermatitis, Osteolysis, Scoliosis, Abnormal cortical bone morphology, Genu varum, Anem...	ORPHA:2796
Immunodeficiency 36 With Lymphoproliferation	Decreased proportion of naive CD8 T cells, Autoimmunity, Chronic lymphatic leukemia, Decreased ci...	OMIM:616005
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Delayed ossification of carpal bones, Kyphosis, Short femoral neck,...	OMIM:618392
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of tumor necrosis factor secretion, Increased circulating interferon-gamma concentrat...	ORPHA:540
Acromesomelic Dysplasia, Maroteaux Type	Scoliosis, Joint stiffness, Ovoid vertebral bodies, Bowing of the long bones, Vertebral wedging, ...	ORPHA:40
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Autoimmunity, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Eczema, Lymphopenia, ...	OMIM:617780
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Increased circulating IgE level, Eczema, Increased circulating IgM leve...	OMIM:617241
Weismann-Netter Syndrome	Calvarial hyperostosis, Scoliosis, Lateral femoral bowing, Kyphosis, Horizontal sacrum, Anterior ...	OMIM:112350
Autoimmune Hemolytic Anemia, Cold Type	Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia	ORPHA:228312
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
C1Q Deficiency 1	Autoimmunity, Systemic lupus erythematosus, Membranoproliferative glomerulonephritis	OMIM:613652
Congenital Pancreatic Cyst	Pancreatitis, Jaundice	ORPHA:313906
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Autoimmunity, Hashimoto thyroiditis, Decreased proportion of CD3-positive T cells, Skin rash, Rec...	ORPHA:275
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Scoliosis, Hip dislocation, Proximal placement of thumb, Thoracic kyphoscoliosis, Metaphyseal irr...	OMIM:613330
Scheuermann Disease	Morbus Scheuermann, Kyphosis	OMIM:181440
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic rickets, Delayed epiphyseal ossificati...	OMIM:300554
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Autoimmunity, Autoimmun...	OMIM:615952
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Rickets, Bulging epiphyses, Hypophosphatemic rickets, Delayed epiphyseal ossification, Femoral bo...	OMIM:241530
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Leukopenia, Bone marrow hypocellularity, Refractory anemia, Systemic lupus erythematosus, Monocyt...	OMIM:616871
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Spondyloepiphyseal Dysplasia Tarda	Scoliosis, Localized osteoporosis, Abnormality of the tibial plateaux, Hump-shaped mound of bone ...	ORPHA:93284
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Hallux valgus, Kyphosis, Osteopenia, Contracture of the proximal interphalangeal joint...	OMIM:130060
Gm1-Gangliosidosis, Type Ii	Scoliosis, Joint stiffness, Hypoplastic vertebral bodies, Coxa valga, Sea-blue histiocytosis, Pla...	OMIM:230600
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune hemolytic anemia, ...	ORPHA:231154
Intermediate Osteopetrosis	Hepatosplenomegaly, Generalized osteosclerosis, Osteosclerosis of the base of the skull, Abnormal...	ORPHA:210110
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, Anti-islet antigen-2 antibody positivity, Pancytopenia, Anti-g...	OMIM:620044
Immunodeficiency 98 With Autoinflammation, X-Linked	Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Antineutrophil anti...	OMIM:301078
Schimke Immuno-Osseous Dysplasia	Decreased proportion of naive CD8 T cells, Autoimmunity, Anemia, Pancreatitis, Bone marrow hypoce...	ORPHA:1830
Spondylometaphyseal Dysplasia, X-Linked	Short finger, Thoracolumbar scoliosis, Knee flexion contracture, Kyphosis, Tapered finger, Platys...	OMIM:313420
Multicentric Osteolysis, Nodulosis, And Arthropathy	C1-C2 subluxation, Interphalangeal joint contracture of finger, Thin bony cortex, Kyphoscoliosis,...	OMIM:259600
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Scoliosis, Hip dislocation, Generalized joint laxity, Metaphyseal irregularity, Kyphoscoliosis, F...	ORPHA:93360
Desbuquois Dysplasia 1	Scoliosis, Partial duplication of the distal phalanx of the hallux, Flattened epiphysis, Short me...	OMIM:251450
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Camptodactyly of finger, Decreased cervical spine mobility, Genu varum, Joint...	OMIM:208230
Hereditary Chronic Pancreatitis	Jaundice, Leukocytosis, Recurrent pancreatitis, Pancreatic calcification, Diabetes mellitus	ORPHA:676
Osteogenesis Imperfecta, Type Xviii	Generalized osteoporosis, Vertebral compression fracture, Femoral bowing, Joint laxity, Recurrent...	OMIM:617952
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Clavicular sclerosis, Thickened cortex o...	OMIM:144750
Spondylocostal Dysostosis 3, Autosomal Recessive	Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Slender finger, Contracture of...	OMIM:609813
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Rickets, Bulging epiphyses, Delayed epiphyseal ossification, Femoral bowing, Sparse bone trabecul...	OMIM:277440
Spastic Paraplegia 18, Autosomal Recessive	Scoliosis, Kyphosis, Joint contracture	OMIM:611225
Acquired Partial Lipodystrophy	Autoimmunity, Lymphocytosis, Insulin resistance, Hepatic steatosis	ORPHA:79087
Florid Cemento-Osseous Dysplasia	Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu...	ORPHA:83451
Lymphoproliferative Syndrome 1	Autoimmunity, Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic a...	OMIM:613011
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Colitis, Redu...	OMIM:619281
Autosomal Recessive Hypophosphatemic Rickets	Craniosynostosis, Rickets of the lower limbs, Increased bone mineral density, Distal femoral bowi...	ORPHA:289176
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Adrenal insufficiency, Hepatic steatosis, Hypoglycemia	OMIM:619386
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Slender long bones with narrow diaphyses, Metaphyseal striations, Osteopenia, Short femoral neck,...	OMIM:608154
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia	ORPHA:289916
Systemic Lupus Erythematosus	Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia...	OMIM:152700
Subcorneal Pustular Dermatosis	Autoimmunity, Increased circulating antibody level, Hyperthyroidism, Rheumatoid arthritis, System...	ORPHA:48377
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Short neck, Abnormal diaphysis morphology, Increased circulating IgE lev...	ORPHA:3409
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Pancreatitis, Hepatomegaly, Macrocytic anemia, Thrombocytopenia	ORPHA:27
Lipodystrophy, Familial Partial, Type 1	Hyperglycemia, Acute pancreatitis, Hepatomegaly, Insulin-resistant diabetes mellitus	OMIM:608600
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Increased bone mineral density, Abnormal diaphysis morphology, Coxa valga, Osteopenia, Broad femo...	ORPHA:85184
Low Phospholipid-Associated Cholelithiasis	Cholangitis, Hepatocellular carcinoma, Liver abscess, Intrahepatic cholestasis, Neoplasm of the l...	ORPHA:69663
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hypoglycemia	OMIM:620137
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal chondrodysplasia, Scoliosis, Short distal phalanx of finger, Irregular acetabular roo...	OMIM:156500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Camptodactyly, Short thumb, Overlapping toe, Kyphosis, Clinodactyly of the 5th finger	OMIM:618453
Osteogenesis Imperfecta, Type X	Scoliosis, Generalized joint laxity, Bowing of the long bones, Osteopenia, Vertebral compression ...	OMIM:613848
Alpha-Mannosidosis	Chronic otitis media, Craniofacial hyperostosis, Scoliosis, Hip dysplasia, Short neck, Hypoplasti...	ORPHA:61
Dent Disease 1	Rickets, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Femoral bowing, Sparse...	OMIM:300009
Immunodeficiency 22	Decreased circulating total IgM, Autoimmunity, Anemia, Abscess, Decreased circulating IgA level, ...	OMIM:615758
Osteopetrosis, Autosomal Recessive 7	Decreased circulating total IgM, Anemia, Femur fracture, Decreased circulating IgA level, Abnorma...	OMIM:612301
Triokinase And Fmn Cyclase Deficiency Syndrome	Pancreatitis, Hepatomegaly, Hepatic steatosis, Microcytic anemia	OMIM:618805
Bruck Syndrome 1	Scoliosis, Osteoporosis, Vertebral wedging, Knee flexion contracture, Kyphosis, Platyspondyly, Pr...	OMIM:259450
Smith-Mccort Dysplasia 1	Scoliosis, Genu varum, Short neck, Multicentric femoral head ossification, Hypoplastic scapulae, ...	OMIM:607326
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Chronic oral candidiasis, Increased circulatin...	OMIM:308230
Diastrophic Dysplasia	Short finger, Increased bone mineral density, Camptodactyly of finger, Scoliosis, Ulnar deviation...	ORPHA:628
Hall-Riggs Mental Retardation Syndrome	Scoliosis, Irregular vertebral endplates, Osteoporosis, Kyphosis, Platyspondyly, Metaphyseal dysp...	OMIM:234250
Sweet Syndrome	Abnormality of tumor necrosis factor secretion, Acne inversa, Predominantly dermal neutrophilic i...	ORPHA:3243
T-Cell Immunodeficiency With Thymic Aplasia	Hepatosplenomegaly, Eczematoid dermatitis, Lymphopenia, Reduced delayed hypersensitivity, Recurre...	OMIM:242700
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Hepatosplenomegaly, Acute otitis media, Decreased circulating total IgM, Impaired lymphocyte tran...	ORPHA:35078
Propionic Acidemia	Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Pancytopenia, Eczema, Hypoglycemia, Neutrop...	OMIM:606054
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Abnormality of B cell physiology, Abs...	OMIM:600802
Pparg-Related Familial Partial Lipodystrophy	Maternal diabetes, Diabetes mellitus, Pancreatitis, Hepatomegaly, Cirrhosis, Hepatic steatosis, I...	ORPHA:79083
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Leukopenia, Tubulointerstitial nephritis, Pancreatitis, Hepatomegaly, Thrombocytopenia, Hypoglyce...	OMIM:251000
Maturity-Onset Diabetes Of The Young, Type 13	Maternal diabetes, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Elevat...	OMIM:616329
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Chylous Ascites	Pancreatitis	ORPHA:1160
Fibrous Dysplasia Of Bone	Rickets, Patchy reduction of bone mineral density, Osteolysis, Fibrous dysplasia of the bones, Sc...	ORPHA:249
Ebola Hemorrhagic Fever	Maculopapular exanthema, Leukopenia, Increased circulating antibody level, Lymphopenia, Hepatitis...	ORPHA:319218
Unclassified Myelodysplastic Syndrome	Leukocytosis, Bone marrow hypocellularity, Autoimmunity, Acute myeloid leukemia	ORPHA:98827
Frank-Ter Haar Syndrome	Camptodactyly of finger, Osteolysis, Scoliosis, Joint stiffness, Kyphosis, Abnormal metacarpal mo...	ORPHA:137834
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Osteopetrosis, Autosomal Dominant 1	Generalized osteosclerosis, Abnormality of the vertebral column, Calvarial osteosclerosis, Osteop...	OMIM:607634
Van Buchem Disease	Increased bone mineral density, Thickened cortex of long bones, Cranial hyperostosis	OMIM:239100
Autoimmune Lymphoproliferative Syndrome	Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ...	ORPHA:3261
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Spinal rigidity, Small epiphyses, Cervical instability, Short neck, Laryngotracheomala...	ORPHA:94068
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Hypocalcemic Vitamin D-Dependent Rickets	Rickets, Genu varum, Irregular, rachitic-like metaphyses, Osteomalacia, Delayed epiphyseal ossifi...	ORPHA:289157
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Decreased circulating IgA level, Increased circulating Ig...	OMIM:606843
Pgm3-Cdg	Chronic otitis media, Chronic sinusitis, Autoimmunity, Hemolytic anemia, Decreased proportion of ...	ORPHA:443811
Benign Recurrent Intrahepatic Cholestasis	Hepatocellular carcinoma, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Cholelith...	ORPHA:65682
Horizontal Gaze Palsy With Progressive Scoliosis	Scoliosis, Kyphosis, Short neck	ORPHA:2744
Primary Sclerosing Cholangitis	Autoimmunity, Cholestasis, Hepatomegaly, Histiocytosis, Abnormal biliary tract morphology, Cholel...	ORPHA:171
Igg4-Related Aortitis	Hypereosinophilia, Cytoplasmic antineutrophil antibody positivity, Increased circulating IgG4 lev...	ORPHA:449400
Selective Igm Deficiency	Chronic sinusitis, Autoimmunity, Decreased specific antibody response to vaccination, Decreased p...	ORPHA:331235
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Cervical instability, Delayed ossification of carpal bones, Coxa valga, Dis...	OMIM:617425
Spondylometaphyseal Dysplasia, Kozlowski Type	Scoliosis, Narrow greater sciatic notch, Dumbbell-shaped femur, Short neck, Irregular, rachitic-l...	OMIM:184252
Gallbladder Disease 1	Cholangitis, Jaundice, Cholestasis, Pancreatitis, Bile duct proliferation, Hepatic fibrosis, Chol...	OMIM:600803
Dyggve-Melchior-Clausen Disease	Scoliosis, Short metatarsal, Iliac crest serration, Multicentric ossification of proximal humeral...	OMIM:223800
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice, Hepatomegaly	OMIM:243300
Immunodeficiency 96	Decreased circulating total IgM, Increased proportion of gamma-delta T cells, Decreased circulati...	OMIM:619774
Microscopic Polyangiitis	Peritonitis, Autoimmunity, Skin rash, Pancreatitis, Uveitis, Arthritis, Episcleritis, Sinusitis, ...	ORPHA:727
Immunodeficiency 32B	Impaired oxidative burst, Anemia, Abnormal circulating IgG level, Eosinophilia, Sinusitis, Thromb...	OMIM:226990
Osteogenesis Imperfecta, Type Ix	Scoliosis, Short lower limbs, Kyphosis, Multiple prenatal fractures, Platyspondyly, Bowing of lim...	OMIM:259440
Acquired Generalized Lipodystrophy	Autoimmunity, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Hepatic steatosis, I...	ORPHA:79086
Zimmermann-Laband Syndrome 3	Clinodactyly, Short distal phalanx of finger, Long thumb, Kyphosis, Absent distal phalanges, Long...	OMIM:618658
Legionnaires Disease	Myocarditis, Jaundice, Endocarditis, Pancreatitis, Bone marrow hypocellularity, Lymphopenia, Hepa...	ORPHA:549
Familial Osteodysplasia, Anderson Type	Scoliosis, Abnormal cortical bone morphology, Bifid femur, Kyphosis, Clinodactyly of the 5th fing...	ORPHA:2769
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Scoliosis, Hip dysplasia, Increased circulating IgE level, Kyphos...	ORPHA:1858
Duchenne And Becker Muscular Dystrophy	Reduced bone mineral density, Scoliosis, Joint stiffness, Slender long bone, Hyperlordosis	ORPHA:262
Familial Partial Lipodystrophy, Dunnigan Type	Diabetes mellitus, Pancreatitis, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splenomegaly	ORPHA:2348
Autoimmune Polyendocrinopathy Type 4	Autoimmunity, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocyt...	ORPHA:227990
Arthrogryposis, Distal, Type 4	Camptodactyly, Scoliosis, Distal arthrogryposis, Lumbar scoliosis, Tibial deviation of toes, Camp...	OMIM:609128
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Eczematoid dermatitis, Autoimmunity, Atypical or prolonged hepatitis, Oligo...	ORPHA:83471
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Scoliosis, Hip dislocation, Kyphosis, Small hand, Short foot	OMIM:300434
Purine Nucleoside Phosphorylase Deficiency	Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ...	OMIM:613179
Bethlem Myopathy 2	Scoliosis, Hip dislocation, Distal joint laxity, Kyphosis, Flexion contracture	OMIM:616471
Autoimmune Polyendocrinopathy Type 3	Autoimmunity, Non-caseating epithelioid cell granulomatosis, Keratoconjunctivitis sicca, Macrocyt...	ORPHA:227982
Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei, Polydactyly, Abnormality of neutrophils, Short 4th metacar...	OMIM:169400
Mody	Pancreatic hypoplasia, Neonatal hypoglycemia, Hepatocellular adenoma, Glycosuria, Abnormal oral g...	ORPHA:552
Mucopolysaccharidosis, Type Iva	Scoliosis, Pointed proximal second through fifth metacarpals, Short neck, Ovoid vertebral bodies,...	OMIM:253000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Interface hepatitis, Cholestatic liver disease, Inflammation of the large intestine, Granulomatou...	ORPHA:562639
Borjeson-Forssman-Lehmann Syndrome	Scoliosis, Widely spaced toes, Scheuermann-like vertebral changes, Kyphosis, Shortening of all di...	OMIM:301900
Rothmund-Thomson Syndrome	Reduced bone mineral density, Malar rash, Aplastic anemia, Skin rash, Anemia, Leukemia, Short thu...	ORPHA:2909
Primary Lipodystrophy	Pancreatitis, Cirrhosis, Type II diabetes mellitus, Hepatic steatosis, Insulin resistance, Spleno...	ORPHA:90970
Bruck Syndrome	Scoliosis, Joint stiffness, Osteoporosis, Kyphosis, Platyspondyly, Recurrent fractures, Arthrogry...	ORPHA:2771
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Scoliosis, Osteoporosis, Kyphosis, Abnormality of the cervical spine	ORPHA:48431
Insulin-Resistance Syndrome Type B	Autoimmunity, Fasting hyperinsulinemia, Osteoarthritis, Hyperinsulinemia, Hyperinsulinemic hypogl...	ORPHA:2298
Neuronopathy, Distal Hereditary Motor, Type Viii	Scoliosis, Knee flexion contracture, Kyphosis, Hip contracture, Arthrogryposis multiplex congenit...	OMIM:600175
Gaucher Disease Type 1	Increased bone mineral density, Osteolysis, Leukopenia, Increased circulating antibody level, Ane...	ORPHA:77259
Pancreatitis, Hereditary	Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pancreatic pseudocyst, Exocrine pancre...	OMIM:167800
Congenital Disorder Of Glycosylation, Type Iic	Reduction of neutrophil motility, Recurrent otitis media, Periodontitis, Pneumonia, Neutrophilia,...	OMIM:266265
Myasthenic Syndrome, Congenital, 25, Presynaptic	Scoliosis, Kyphosis, Spinal rigidity, Joint hypermobility, Flexion contracture	OMIM:618323
Seckel Syndrome 10	Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat...	OMIM:617253
Lenz-Majewski Hyperostotic Dwarfism	Increased bone mineral density, Elbow ankylosis, Scoliosis, Abnormal cortical bone morphology, Ab...	ORPHA:2658
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy	Neonatal hypoglycemia, Autoimmunity, Nonketotic hypoglycemia, Hypoglycemic seizures, Hypoketotic ...	ORPHA:293964
Oculodentodigital Dysplasia	Camptodactyly of finger, Hand polydactyly, Abnormal cortical bone morphology, Abnormal metaphysis...	ORPHA:2710
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Preaxial hand polydactyly, Decreased proportion of CD4-positive helper T cells, Short phalanx of ...	ORPHA:508533
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Scoliosis, Abnormal cortical bone morphology, Abnormal metaphysis morpho...	ORPHA:3206
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteolysis, Stomatitis, Skin rash, Abscess, Neutrophilia, Osteopenia, Periostitis, Osteomyelitis,...	OMIM:612852
Thymoma	Glomerulonephritis, Autoimmunity, Aplastic anemia, Pure red cell aplasia, Leukemia, Anti-acetylch...	ORPHA:99867
Cach Syndrome	Hepatosplenomegaly, Pancreatitis, Optic neuritis	ORPHA:135
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis	OMIM:618234
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Proximal femoral epiphysiolysis, Flattened femoral head, Tibial metaphyseal i...	ORPHA:457395
Tropical Pancreatitis	Maternal diabetes, Jaundice, Chronic calcifying pancreatitis, Pancreatic calcification, Pancreati...	ORPHA:103918
Osteogenesis Imperfecta, Type Viii	Scoliosis, Short metacarpal, Kyphosis, Osteopenia, Vertebral compression fracture, Platyspondyly,...	OMIM:610915
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Pancreatitis, Iridocyclitis, Type II diabetes mellitus, Hypothyroidism, Type I diabetes mellitus	ORPHA:412057
Frank-Ter Haar Syndrome	Camptodactyly, Hip dysplasia, Prominent coccyx, Bowing of the long bones, Osteoporosis, Cortical ...	OMIM:249420
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczema, Kyphosis, Hip dysplasia	OMIM:620007
Immunodeficiency 17	Eczema, Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Chronic de...	OMIM:615607
Type 1 Diabetes Mellitus	Diabetes mellitus, Hyperglycemia, Autoimmunity	OMIM:222100
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Scoliosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hyperlordosis	OMIM:300718
Rothmund-Thomson Syndrome Type 2	Synostosis involving bones of the upper limbs, Patellar aplasia, Aplasia/hypoplasia involving bon...	ORPHA:221016
Rat-Bite Fever	Myocarditis, Morbilliform rash, Maculopapular exanthema, Oligoarthritis, Endocarditis, Anemia, Sk...	ORPHA:31205
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar interpedicular narrowing, Metaphyseal irregularity, Small epiphyses, Kyphoscoliosis, Flat ...	OMIM:271510
Sialidosis Type 2	Flexion contracture, Osteoporosis, Kyphosis, Splenomegaly	ORPHA:87876
X-Linked Lymphoproliferative Disease	Myocarditis, Autoimmunity, Hemophagocytosis, Colitis, Fulminant hepatitis, Histiocytosis, Increas...	ORPHA:2442
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Abnormality of the humerus, Hip dislocation, Short neck, Kyphosis...	ORPHA:3098
Rothmund-Thomson Syndrome Type 1	Patellar aplasia, Metaphyseal sclerosis, Aplastic anemia, Anemia, Genu varum, Leukemia, Metaphyse...	ORPHA:221008
Osteogenesis Imperfecta, Type Iii	Scoliosis, Severe generalized osteoporosis, Kyphosis, Slender long bone, Multiple prenatal fractu...	OMIM:259420
X-Linked Intellectual Disability, Stocco Dos Santos Type	Congenital bilateral hip dislocation, Kyphosis	ORPHA:85288
Osteogenesis Imperfecta	Scoliosis, Abnormal long bone morphology, Abnormal cortical bone morphology, Osteoarthritis, Decr...	ORPHA:666
Citrullinemia, Type Ii, Adult-Onset	Hepatocellular carcinoma, Pancreatitis, Portal inflammation, Hepatic fibrosis, Hepatic steatosis,...	OMIM:603471
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib...	ORPHA:37042
Spondyloperipheral Dysplasia	Short distal phalanx of finger, Short distal phalanx of the 2nd finger, Short thumb, Short metata...	OMIM:271700
Adult Acute Respiratory Distress Syndrome	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:70578
Immunodeficiency 7	Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Hepatomegaly, Chronic oral candidia...	OMIM:615387
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Shortening of the talar neck, Osteoarthritis, Osteomalacia, Hypophosphatemic rickets, Tr...	OMIM:307800
Acute Lung Injury	Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration...	ORPHA:178320
Congenital Muscular Dystrophy, Ullrich Type	Scoliosis, Hip dislocation, Short neck, Increased laxity of fingers, Hyperextensibility at wrists...	ORPHA:75840
Igg4-Related Kidney Disease	Chronic sinusitis, Increased circulating IgG4 level, Inflammatory abnormality of the skin, Rheuma...	ORPHA:449395
Bullous Pemphigoid	Diabetes mellitus, Eczema, Autoimmunity, Psoriasiform dermatitis	ORPHA:703
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Anterior atlanto-occipital dislocation, Scoliosis, Hip dysplasia, Kyphoscoliosis, Hallux valgus, ...	ORPHA:536467
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Scoliosis, Lumbar hyperlordosis, Short neck, Kyphosis, Irregular epiphyses, Hump-shaped mound of ...	OMIM:313400
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Scoliosis, Kyphosis	OMIM:617087
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic sinusitis, Autoimmunity, Diabetes mellitus, Decreased specific pneumococcal antibody leve...	ORPHA:183675
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Metaphyseal cupping, Bowed humerus, Metaphyseal irregularity, Short 5th metacarpal, Radial bowing...	OMIM:618019
Cidec-Related Familial Partial Lipodystrophy	Pancreatitis, Hepatomegaly, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:435651
Igg4-Related Ophthalmic Disease	Cholangitis, Increased circulating IgG4 level, Orchitis, Increased circulating IgE level, Pancrea...	ORPHA:449563
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Cortical thickening of long bone diaphyses, Recurrent fractures, ...	OMIM:166740
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Hip dislocation, Scoliosis, Lumbar hyperlordosis, Kyphosis	OMIM:616756
Mucopolysaccharidosis Type 4	Reduced bone mineral density, Scoliosis, Abnormal metaphysis morphology, Short neck, Coxa valga, ...	ORPHA:582
Psoriasis-Related Juvenile Idiopathic Arthritis	Abnormality of tumor necrosis factor secretion, Malar rash, Oligoarthritis, Finger dactylitis, En...	ORPHA:85436
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Scoliosis, Short neck, Long hallux, Osteoporosis, Vertebral compression fracture, Long fingers, R...	OMIM:309583
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody...	OMIM:618986
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Pericarditis, Leukocytosis	ORPHA:188
Sandhoff Disease	Kyphosis, Splenomegaly	ORPHA:796
Spondyloenchondrodysplasia With Immune Dysregulation	Scoliosis, Metaphyseal irregularity, Kyphoscoliosis, Metaphyseal widening, Short iliac bones, Lym...	OMIM:607944
Iga Pemphigus	Increased circulating IgA level, Monoclonal elevation of circulating IgA, Ulcerative colitis, Eos...	ORPHA:555905
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Neutropenia in presence of anti-neutropil antibodies, Hepatosplenomegaly, Cholangitis, Autoimmuni...	ORPHA:228426
Fetal Akinesia Deformation Sequence 4	Camptodactyly, Short neck, Kyphosis, Rocker bottom foot, Arthrogryposis multiplex congenita	OMIM:618393
Tropical Calcific Pancreatitis	Chronic pancreatitis, Insulin-dependent but ketosis-resistant diabetes, Neoplasm of the pancreas,...	OMIM:608189
Adult Idiopathic Neutropenia	Recurrent aphthous stomatitis, Lymphopenia, Increased circulating IgM level, Monocytopenia, Abnor...	ORPHA:2688
Microsporidiosis	Myocarditis, Peritonitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper ...	ORPHA:2552
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad long bones, Flared iliac wing, Metaphyseal irregularity, Cone-shaped epiphyses of the phala...	OMIM:300106
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Bone Marrow Failure Syndrome 6	Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Neutropenia, Lymphopenia, Osteo...	OMIM:618849
Gamma-Heavy Chain Disease	Autoimmunity, Anemia, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnorm...	ORPHA:100026
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Scoliosis, Hip dysplasia, Knee flexion contracture, Kyphosis, Achilles tendon contracture, Hip co...	OMIM:615290
Maple Syrup Urine Disease	Pancreatitis, Hypoglycemia	OMIM:248600
Weill-Marchesani Syndrome 1	Broad metatarsal, Scoliosis, Lumbar hyperlordosis, Broad phalanges of the hand, Joint stiffness, ...	OMIM:277600
Spondylodysplastic Ehlers-Danlos Syndrome	Scoliosis, Hip dysplasia, Generalized joint laxity, Increased susceptibility to fractures, Sagitt...	ORPHA:536471
Bare Lymphocyte Syndrome, Type Ii	Biliary tract abnormality, Cholangitis, Cutaneous anergy, Chronic mucocutaneous candidiasis, Coli...	OMIM:209920
Mucopolysaccharidosis, Type Ivb	Scoliosis, Hip dysplasia, Pointed proximal second through fifth metacarpals, Ovoid vertebral bodi...	OMIM:253010
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific anti-polysaccharid...	OMIM:301000
Cdkl5-Deficiency Disorder	Broad proximal phalanges of the hand, Scoliosis, Hallux valgus, Kyphosis	ORPHA:505652
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Scoliosis, Decreased circulating IgA level, Kyphosis, Decreased ...	OMIM:300861
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Pauci-Immune Glomerulonephritis	Cytoplasmic antineutrophil antibody positivity, Glomerulonephritis, Granulomatosis, Tubulointerst...	ORPHA:93126
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Pancreatitis, Lymphadenitis, Parotitis, Eosinophilia, Sinusitis...	ORPHA:449427
Coccidioidomycosis	Peritonitis, Morbilliform rash, Abnormality of the liver, Abscess, Skin rash, Granuloma, Pancreat...	ORPHA:228123
Obesity Due To Congenital Leptin Deficiency	Hyperinsulinemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:66628
Idiopathic Juvenile Osteoporosis	Osteoporosis, Kyphosis, Vertebral compression fracture, Recurrent fractures	ORPHA:85193
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level, Scoliosis, Kyphosis	ORPHA:85317
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis, Tapered finger	ORPHA:276630
Dysostosis, Stanescu Type	Increased bone mineral density, Scoliosis, Abnormal metaphysis morphology, Short neck, Bowing of ...	ORPHA:1798
Congenital Arthrogryposis With Anterior Horn Cell Disease	Scoliosis, Hip dysplasia, Short neck, Kyphosis, Rocker bottom foot, Arthrogryposis multiplex cong...	OMIM:611890
Masa Syndrome	Adducted thumb, Kyphosis, Hyperlordosis	OMIM:303350
Spondyloepiphyseal Dysplasia Congenita	Scoliosis, Delayed calcaneal ossification, Lumbar hyperlordosis, Hip dislocation, Short neck, Ovo...	OMIM:183900
Camurati-Engelmann Disease	Scoliosis, Abnormality of the humerus, Abnormal diaphysis morphology, Abnormal morphology of ulna...	ORPHA:1328
Difference Of Sex Development-Intellectual Disability Syndrome	Reduced bone mineral density, Short neck, Kyphosis, Spina bifida occulta, Genu valgum	ORPHA:2983
Glycogen Storage Disease Ib	Hepatocellular carcinoma, Inflammation of the large intestine, Gout, Pancreatitis, Hepatomegaly, ...	OMIM:232220
Myopathic Ehlers-Danlos Syndrome	Scoliosis, Knee flexion contracture, Kyphosis, Joint contracture of the hand, Tapered finger, Sho...	ORPHA:536516
Caroli Syndrome	Cholangitis, Jaundice, Leukocytosis, Liver abscess, Leukopenia, Intrahepatic cholestasis, Pancrea...	ORPHA:480520
Flynn-Aird Syndrome	Scoliosis, Bone cyst, Kyphosis, Joint stiffness	ORPHA:2047
Aspartylglucosaminuria	Chronic otitis media, Scoliosis, Abnormal cortical bone morphology, Joint stiffness, Arthritis, B...	ORPHA:93
Obesity Due To Leptin Receptor Gene Deficiency	Hyperinsulinemia, Pituitary hypothyroidism, Decreased proportion of CD4-positive helper T cells, ...	ORPHA:179494
Dent Disease	Rickets, Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Delayed epiphyseal ossification, Sp...	ORPHA:1652
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short distal phalanx of finger, Abnormal diaphysis morphology, Triangular shaped distal phalanges...	ORPHA:73230
Geroderma Osteodysplasticum	Camptodactyly, Irregular vertebral endplates, Osteoporosis, Osteopenia, Vertebral compression fra...	OMIM:231070
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Autoimmunity, Hemophagocytosis, Anemia, Pancytopenia, Splenomegaly, Panniculitis	OMIM:618398
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hypoplasia of the thymus, Interface hepatitis, Impaired lymphocyte transformation with phytohemag...	OMIM:243150
Lysinuric Protein Intolerance	Hepatosplenomegaly, Glomerulonephritis, Leukopenia, Increased circulating antibody level, Hemopha...	ORPHA:470
Ruvalcaba Syndrome	Limited elbow extension, Scoliosis, Short metatarsal, Short metacarpal, Kyphosis, Short palm, Sma...	OMIM:180870
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Kyphosis, Abnormal metacarp...	ORPHA:3219
Weill-Marchesani Syndrome 2	Broad metatarsal, Short finger, Scoliosis, Lumbar hyperlordosis, Broad phalanges of the hand, Joi...	OMIM:608328
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis	OMIM:145001
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Heart Defects-Limb Shortening Syndrome	Abnormal metaphysis morphology, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:1354
Autism Spectrum Disorder Due To Auts2 Deficiency	Scoliosis, Joint contracture of the 5th finger, Kyphosis, Congenital contracture, Arthrogryposis ...	ORPHA:352490
Roifman Syndrome	Hepatosplenomegaly, Eczema, Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Decreased ...	ORPHA:353298
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Thr...	ORPHA:3226
Mucolipidosis Iii Gamma	Scoliosis, Joint stiffness, Short neck, Kyphosis, Flared iliac wing, Genu valgum, Flat capital fe...	OMIM:252605
Osteogenesis Imperfecta, Type Iv	Reduced bone mineral density, Scoliosis, Kyphosis, Biconcave flattened vertebrae, Bowing of limbs...	OMIM:166220
Hurler Syndrome	Calvarial hyperostosis, Hepatosplenomegaly, Flexion contracture, Joint stiffness, Short neck, Met...	OMIM:607014
Igg4-Related Thyroid Disease	Graves disease, Increased circulating IgG4 level, Autoimmunity, Pancreatic fibrosis, Hashimoto th...	ORPHA:64744
Autoinflammatory Disease, Systemic, X-Linked	Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab...	OMIM:301081
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Inflammation of the large intest...	ORPHA:79259
Gm1-Gangliosidosis, Type Iii	Scoliosis, Hypoplastic acetabulae, Kyphosis, Platyspondyly, Flared iliac wing, Anterior beaking o...	OMIM:230650
Zygomycosis	Peritonitis, Myocarditis, Endocarditis, Diabetes mellitus, Pancreatitis, Colitis, Gastritis, Hepa...	ORPHA:73263
Spondyloocular Syndrome	Overlapping toe, Femur fracture, Vertebral compression fracture, Osteopenia, Platyspondyly, Long ...	OMIM:605822
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Joint stiffness, Arachnodactyly, Scoliosis, Kyphosis	ORPHA:1548
Hypomelanosis Of Ito	Hand polydactyly, Scoliosis, Syndactyly, Kyphosis, Radial deviation of finger, Clinodactyly	OMIM:300337
Mucopolysaccharidosis Type 6	Chronic otitis media, Abnormal metaphysis morphology, Joint stiffness, Ovoid vertebral bodies, Sh...	ORPHA:583
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Leukocytosis, Leukopenia, Anemia, Recurrent hypoglycemia, Nonketotic hypoglycemia, Hepa...	ORPHA:20
Achondroplasia	Abnormal iliac wing morphology, Hip joint hypermobility, Limited elbow extension, Lumbar hyperlor...	ORPHA:15
Hyperlipoproteinemia, Type Id	Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis, Splenomegaly	OMIM:615947
Intellectual Developmental Disorder, Autosomal Dominant 23	Scoliosis, Postaxial polydactyly, Sacral dimple, Kyphosis, Broad distal phalanx of finger, Sandal...	OMIM:615761
Primary Triglyceride Deposit Cardiomyovasculopathy	Vacuolated lymphocytes, Inflammatory abnormality of the skin, Diabetes mellitus, Pancreatitis, He...	ORPHA:565612
Mccune-Albright Syndrome	Elevated circulating growth hormone concentration, Hepatocellular adenoma, Increased circulating ...	ORPHA:562
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Campomelic Dysplasia	Tracheomalacia, Scoliosis, Hip dislocation, Short neck, Hypoplastic inferior ilia, Bowing of the ...	ORPHA:140
Gm1 Gangliosidosis	Hepatosplenomegaly, Camptodactyly of finger, Scoliosis, Aspiration pneumonia, Abnormal metaphysis...	ORPHA:354
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Aicardi-Goutieres Syndrome 9	Hepatosplenomegaly, Hemolytic anemia, Anemia, Hepatic fibrosis, Hepatomegaly, Chilblains, Acute p...	OMIM:619487
Familial Chylomicronemia Syndrome	Hepatosplenomegaly, Jaundice, Recurrent pancreatitis, Diabetes mellitus, Acute pancreatitis, Peri...	ORPHA:444490
Pemphigus Erythematosus	Malar rash, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythem...	ORPHA:79480
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Stuve-Wiedemann Syndrome 1	Scoliosis, Clubbing, Pathologic fracture, Contracture of the proximal interphalangeal joint of th...	OMIM:601559
Sjögren-Larsson Syndrome	Joint stiffness, Inflammatory abnormality of the eye, Scoliosis, Kyphosis	ORPHA:816
Faciocardiomelic Syndrome	Cuboid-shaped vertebral bodies, Polydactyly, Osteopenia, Slender long bone, Hypoplastic pelvis, T...	OMIM:612731
Aregenerative Anemia	Bone marrow hypocellularity, Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Thro...	ORPHA:101096
Pycnodysostosis	Spondylolysis, Generalized osteosclerosis, Coronal craniosynostosis, Increased bone mineral densi...	ORPHA:763
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Jaundice, Reticulocytosis, Leukopenia, Increased circulati...	ORPHA:99826
Mitochondrial Myopathy And Sideroblastic Anemia	Scoliosis, Kyphosis, Anemia	ORPHA:2598
Mucopolysaccharidosis, Type Vii	Flexion contracture, Scoliosis, Joint stiffness, Short neck, Anterior beaking of lower thoracic v...	OMIM:253220
Craniotubular Dysplasia, Ikegawa Type	3-4 finger syndactyly, Broad femoral neck, Increased intervertebral space, Platyspondyly, Broad i...	OMIM:619727
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Diabetes mellitus, Pancreatitis, Hepatomegaly, Hepatic steatosis, Insulin resistance, Splenomegaly	ORPHA:280365
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Cholangitis, Myeloproliferative disorder, Leukocytosis, Inflammatory abnormal...	ORPHA:3260
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Scoliosis, Hip dislocation, Metaphyseal widening, Coxa valga, Osteopenia, Clubbing of fingers, Jo...	OMIM:620083
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono...	ORPHA:98849
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Flexion contracture, Scoliosis, Short neck, Kyphosis, Clinodactyly, Arthrogryposis multiplex cong...	ORPHA:178148
Granulomatosis With Polyangiitis	Chronic otitis media, Pericarditis, Autoimmunity, Granulomatosis, Skin rash, Pancreatitis, Sinusi...	ORPHA:900
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Congenital foot contractures, Kyphosis, Limitation of joint mobility, Clinodactyly of ...	ORPHA:3454
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Pancreatitis, Jaundice, Anemia	ORPHA:370348
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short distal phalanx of finger, Scoliosis, Camptodactyly of finger, Flattened epiphysis, Shoulder...	OMIM:143095
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Hepatic steatosis	OMIM:236200
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Scoliosis, Kyphosis, Flexion contracture of finger, Adducted thumb, Flexion contracture, Arthrogr...	OMIM:618484
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased circulating IgA level, Leukocytosis, Skin rash, Increased circulating IgM level, Pannic...	OMIM:617099
Holt-Oram Syndrome	Down-sloping shoulders, Scoliosis, Abnormality of the humerus, Absent thumb, Joint stiffness, Pho...	ORPHA:392
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hyperflexibility	ORPHA:1875
Paget Disease Of Bone 5, Juvenile-Onset	Increased bone mineral density, Short humerus, Lateral femoral bowing, Osteoporosis, Ankylosis, K...	OMIM:239000
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Sjogren Syndrome	Autoimmunity, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid ar...	OMIM:270150
Dysbetalipoproteinemia	Gout, Diabetes mellitus, Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Hypothyroidism	ORPHA:412
Immunodeficiency 91 And Hyperinflammation	Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Recurrent pneumonia, Thrombocytope...	OMIM:619644
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis	OMIM:618237
Adult-Onset Still Disease	Myocarditis, Generalized lymphadenopathy, Leukocytosis, Skin rash, Bone marrow hypocellularity, A...	ORPHA:829
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Increased circulating cortisol level, Primary hypercortisolism	OMIM:610475
Glycogen Storage Disease Ia	Fasting hypoglycemia, Hepatocellular carcinoma, Gout, Pancreatitis, Hepatomegaly, Hypoglycemia	OMIM:232200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Diaphyseal sclerosis, Craniofacial osteosclerosis, Metaphyseal widening, Kyphosis, Increased skul...	OMIM:618476
Occipital Horn Syndrome	Rickets, Scoliosis, Hip dislocation, Hip dysplasia, Osteomalacia, Humerus varus, Coxa vara, Brach...	ORPHA:198
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Bicoronal synostosis, Camptodactyly of finger, Scoliosis, Hallux valgus, Leukemia, Kyphosis, Rock...	OMIM:619951
Apolipoprotein C-Ii Deficiency	Pancreatitis, Hepatomegaly, Splenomegaly	OMIM:207750
Schaaf-Yang Syndrome	Camptodactyly, Scoliosis, Arthrogryposis multiplex congenita, Kyphosis, Rocker bottom foot, Taper...	OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 26	Arthrogryposis multiplex congenita, Scoliosis, Kyphosis, Clinodactyly of the 5th finger	OMIM:615834
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Peritonitis, Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Acute colitis, Pan...	ORPHA:90038
Stickler Syndrome, Type I	Scoliosis, Joint stiffness, Abnormal femoral epiphysis morphology, Irregular femoral epiphysis, M...	OMIM:108300
Immunodeficiency 58	Recurrent cutaneous abscess formation, Chronic otitis media, Decreased specific antibody response...	OMIM:618131
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Congenital hip dislocation, Dislocation of the femoral head, Kyphosis, Hyperextensibil...	OMIM:619797
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Kyphosis, Shoulder dislocation, Adducted thumb, Joint hyperflexibility, Arachnodactyly	ORPHA:2181
3M Syndrome	Scoliosis, Congenital hip dislocation, Abnormal metaphysis morphology, Short neck, Increased vert...	ORPHA:2616
Cole-Carpenter Syndrome 2	Coronal craniosynostosis, Kyphosis, Osteopenia, Platyspondyly, Lambdoidal craniosynostosis, Recur...	OMIM:616294
Orotic Aciduria	Anisocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unresponsive megaloblastic anemi...	OMIM:258900
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Congenital Disorder Of Glycosylation, Type Iil	Hypohidrosis, Inflammation of the large intestine, Decreased specific anti-polysaccharide antibod...	OMIM:614576
Clark-Baraitser syndrome	Scoliosis, Kyphosis, Tapered finger, Joint laxity, Short palm, Genu valgum	OMIM:300602
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Short neck, Aplasia/Hypoplasia of fingers, Kyphosis, Abnormal epiphysis morphology, Toe syndactyl...	ORPHA:3082
Uruguay Faciocardiomusculoskeletal Syndrome	Camptodactyly of toe, Scoliosis, Camptodactyly, Hallux valgus, Congenital hip dislocation, Kyphos...	OMIM:300280
Citrullinemia Type Ii	Hepatocellular carcinoma, Pancreatitis, Hepatic fibrosis, Hepatomegaly, Hepatic steatosis	ORPHA:247585
Thanatophoric Dysplasia	Hip dysplasia, Abnormal metaphysis morphology, Joint stiffness, Kyphosis, Abnormal sacroiliac joi...	ORPHA:2655
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Hepatomegaly, Hypoglycemia, Hepatic periportal necrosis	ORPHA:26791
Osteopetrosis, Autosomal Recessive 9	Increased bone mineral density, Pathologic fracture, Anemia, Osteopetrosis, Cortical sclerosis	OMIM:620366
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Scoliosis, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, Femur...	OMIM:618291
Thanatophoric Dysplasia Type 1	Hypoplastic ilia, Abnormal metaphysis morphology, Short greater sciatic notch, Joint stiffness, B...	ORPHA:1860
Igg4-Related Submandibular Gland Disease	Cholangitis, Increased circulating IgG4 level, Autoimmunity, Increased circulating antibody level...	ORPHA:449432
Arthrogryposis, Distal, Type 5	Absent phalangeal crease, Scoliosis, Distal arthrogryposis, Limited wrist extension, Kyphosis, Co...	OMIM:108145
Crimean-Congo Hemorrhagic Fever	Myocarditis, Leukocytosis, Hepatomegaly, Increased circulating IgM level, Acute pancreatitis, Neu...	ORPHA:99827
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Leukocytosis, Hemolytic anemia, Diabetes mellitus, Acute colitis, Pancreatitis, Sept...	ORPHA:544482
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Hyperinsulinemia, Hyperglycemia, Acute pancreatitis, Type II diabetes mellitus, Hep...	OMIM:151660
Megalocornea-Intellectual Disability Syndrome	Scoliosis, Genu varum, Kyphosis, Osteopenia, Tapered finger, Joint hyperflexibility, Metatarsus v...	ORPHA:2479
Myofibrillar Myopathy 10	Knee flexion contracture, Kyphosis, Flexion contracture of finger, Ankle flexion contracture, San...	OMIM:619040
Brachyolmia Type 3	Scoliosis, Short neck, Kyphosis, Platyspondyly, Short femoral neck, Proximal femoral metaphyseal ...	OMIM:113500
Melas	Recurrent pancreatitis, Anemia, Diabetes mellitus, Hypoparathyroidism, Type II diabetes mellitus,...	ORPHA:550
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Osteoporosis, Scoliosis, Kyphosis, Joint contracture	OMIM:615381
Hyper-Igd Syndrome	Hepatosplenomegaly, Increased circulating IgA level, Leukocytosis, Skin rash, Lymphadenitis, Arth...	OMIM:260920
Lopes-Maciel-Rodan Syndrome	Short foot, Scoliosis, Kyphosis, Small hand	OMIM:617435
Ruvalcaba Syndrome	Scoliosis, Proximal placement of thumb, Short metacarpal, Kyphosis, Synostosis of carpal bones, C...	ORPHA:3121
19P13.12 Microdeletion Syndrome	Craniosynostosis, Scoliosis, Short neck, Finger syndactyly, Kyphosis, Clinodactyly of the 5th fin...	ORPHA:254346
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Short neck, Abnormal reticulocyte morphology, Abnormal hip bone morphology, Kyphosis, Fused cervi...	ORPHA:2522
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hyperflexibility	ORPHA:319199
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis, Split hand	OMIM:618124
Familial Mediterranean Fever	Peritonitis, Orchitis, Skin rash, Erysipelas, Pancreatitis, Osteoarthritis, Arthritis, Pericardit...	ORPHA:342
Classical-Like Ehlers-Danlos Syndrome Type 2	Hip dislocation, Hallux valgus, Keratoconjunctivitis sicca, Sacral dimple, Kyphosis, Osteopenia, ...	ORPHA:536532
Subaortic Stenosis-Short Stature Syndrome	Scoliosis, Short neck, Synostosis of carpal bones, Kyphosis, Acne	ORPHA:3191
Lysinuric Protein Intolerance	Leukopenia, Hemophagocytosis, Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:222700
4Q21 Microdeletion Syndrome	Scoliosis, Short neck, Kyphosis, Toe syndactyly, Short palm, Small hand, Short foot	ORPHA:238750
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Leukocytosis, Hypochromic anemia, Increased circulating IgE level, Increased circulating IgG leve...	OMIM:618213
Shashi-Pena Syndrome	Scoliosis, Osteoporosis, Short metacarpal, Kyphosis, Cervical C2/C3 vertebral fusion	OMIM:617190
Mulibrey Nanism	Thickened cortex of long bones	OMIM:253250
Behçet Disease	Optic neuritis, Orchitis, Endocarditis, Recurrent aphthous stomatitis, Pancreatitis, Keratoconjun...	ORPHA:117
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Scoliosis, Abnormal diaphysis morpholo...	ORPHA:192
Osteoporosis-Pseudoglioma Syndrome	Scoliosis, Pathologic fracture, Metaphyseal widening, Osteoporosis, Severe platyspondyly, Kyphosi...	OMIM:259770
Hyperlipoproteinemia, Type I	Hepatosplenomegaly, Pancreatitis, Jaundice, Splenomegaly	OMIM:238600
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Kyphosis, Short toe, Hyperlordosis, Brachydactyly	ORPHA:3085
Mgat2-Cdg	Scoliosis, Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Osteopenia, Impa...	ORPHA:79329
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Trisomy 20P	Reduced bone mineral density, Scoliosis, Camptodactyly of finger, Short neck, Finger syndactyly, ...	ORPHA:261318
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Scoliosis, Vertebral fusion, Kyphosis, Elbow contracture, Achilles tendon contracture, Hyperlordosis	OMIM:606612
Spondyloenchondrodysplasia	Short distal phalanx of finger, Hypoplastic ilia, Skin rash, Autoimmune thrombocytopenia, Granulo...	ORPHA:1855
Multiple Pterygium Syndrome, Escobar Variant	Scoliosis, Hip dislocation, Rocker bottom foot, Down-sloping shoulders, Camptodactyly of toe, Pat...	OMIM:265000
Mirizzi Syndrome	Gallbladder perforation, Jaundice, Pancreatitis, Abnormality of the ductus choledochus, Cholester...	ORPHA:521219
Stevens-Johnson Syndrome	Anemia, Pancreatitis, Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis	ORPHA:36426
15Q24 Microdeletion Syndrome	Scoliosis, Proximal placement of thumb, Abnormal toe morphology, Kyphosis, Joint laxity, Small ha...	ORPHA:94065
Hajdu-Cheney Syndrome	Short distal phalanx of finger, Osteolysis, Scoliosis, Short neck, Partial absence of toe, Bowing...	ORPHA:955
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Kyphosis, Joint laxity, Small hand, Sandal gap, Short foot, Brachydactyly	OMIM:300354
Glycogen Storage Disease Ic	Chronic pancreatitis, Hepatocellular carcinoma, Inflammation of the large intestine, Stomatitis, ...	OMIM:232240
Typical Nemaline Myopathy	Scoliosis, Hip dislocation, Genu varum, Short neck, Kyphosis, Spinal rigidity, Genu valgum, Flexi...	ORPHA:171436
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Toxic Epidermal Necrolysis	Anemia, Pancreatitis, Thrombocytopenia, Conjunctivitis, Neutropenia	ORPHA:537
Pneumocystosis	Increased circulating antibody level, Chronic oral candidiasis, Acute infectious pneumonia, Abnor...	ORPHA:723
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Cleidocranial Dysplasia 1	Spondylolysis, Increased bone mineral density, Scoliosis, Hip dislocation, Long second metacarpal...	OMIM:119600
Poland Syndrome	Scoliosis, Abnormality of the humerus, Absent hand, Finger symphalangism, Abnormal morphology of ...	ORPHA:2911
Wieacker-Wolff Syndrome	Camptodactyly, Scoliosis, Hip dislocation, Congenital foot contractures, Short neck, Proximal pla...	OMIM:314580
Lipodystrophy, Congenital Generalized, Type 1	Diabetes mellitus, Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Hepatic steatos...	OMIM:608594
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Kyphosis, Platyspondyly, Joint hyperflexibility, Limitation of jo...	ORPHA:93274
Cystic Fibrosis	Hepatosplenomegaly, Chronic sinusitis, Pancreatitis, Hepatomegaly, Cirrhosis, Recurrent pneumonia...	OMIM:219700
Alstrom Syndrome	Hyperostosis frontalis interna, Scoliosis, Tubulointerstitial nephritis, Chronic active hepatitis...	OMIM:203800
Trichohepatoneurodevelopmental Syndrome	Recurrent pancreatitis, Hepatomegaly, Recurrent otitis media, Hypothyroidism, Cholelithiasis, Spl...	OMIM:618268
Crisponi Syndrome	Camptodactyly of finger, Scoliosis, Kyphosis, Limitation of joint mobility, Flexion contracture	ORPHA:1545
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Hyperinsulinemia, Cirrhosis, Acute pancreatitis, Type II diabetes mellitus, Hepatic...	OMIM:269700
Acro-Renal-Mandibular Syndrome	Scoliosis, Butterfly vertebrae, Hip dislocation, Short neck, Finger syndactyly, Hypoplastic scapu...	ORPHA:958
Myopathy, Centronuclear, 2	Kyphosis, Flexion contracture, Scoliosis, Hyperlordosis	OMIM:255200
Congenital Disorder Of Glycosylation, Type Il	Hepatosplenomegaly, Hip dislocation, Kyphosis, Short neck	OMIM:608776
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interferon-gamma concentration, Increased circulating interleukin 6 concent...	ORPHA:542323
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Marinesco-Sjogren Syndrome	Scoliosis, Short metatarsal, Coxa valga, Short metacarpal, Kyphosis, Flexion contracture	OMIM:248800
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Scoliosis, Hip dysplasia, Prominent coccyx, Short neck, Short digit, Sacral...	OMIM:300966
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Scoliosis, Hip dislocation, Kyphosis	ORPHA:464282
Rajab Interstitial Lung Disease With Brain Calcifications 1	Rickets, Reduced bone mineral density, Scoliosis, Anemia, Osteopenia, Joint laxity, Pancytopenia,...	OMIM:613658
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Kyphosis, Osteopenia	OMIM:219080
Marshall-Smith Syndrome	Short distal phalanx of finger, Scoliosis, Large sternal ossification centers, Hip dysplasia, Tho...	OMIM:602535
Wieacker-Wolff Syndrome, Female-Restricted	Scoliosis, Hip dislocation, Short neck, Limited shoulder movement, Kyphosis, Rocker bottom foot, ...	OMIM:301041
Scapuloperoneal Spinal Muscular Atrophy	Scoliosis, Hip dysplasia, Kyphosis, Metatarsus adductus, Small hand, Clinodactyly, Hyperlordosis	OMIM:181405
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Camptodactyly of finger, Scoliosis, Joint contracture of the 5th finger, Kyphosis, Arachnodactyly	ORPHA:1883
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Scoliosis, Abnormality of fibula morphology, Short neck, Ectrodactyly, F...	ORPHA:251014
Mcdonough Syndrome	Scoliosis, Kyphosis	ORPHA:2471
Schwartz-Jampel Syndrome	Scoliosis, Hip dysplasia, Spinal rigidity, Shoulder flexion contracture, Coxa vara, Short neck, O...	ORPHA:800
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Scoliosis, Short neck, Kyphosis, Joint hyperflexibility, Hyperlordosis...	ORPHA:2789
Familial Hypocalciuric Hypercalcemia	Pancreatitis, Autoimmunity	ORPHA:405
Martsolf Syndrome 1	Osteopathia striata, Slender ulna, Tracheomalacia, Lumbar hyperlordosis, Finger joint hypermobili...	OMIM:212720
Weaver Syndrome	Limited elbow extension, Camptodactyly, Scoliosis, Flared humeral metaphysis, Calcaneovalgus defo...	OMIM:277590
X-Linked Charcot-Marie-Tooth Disease Type 5	Scoliosis, Kyphosis	ORPHA:99014
Congenital Disorder Of Glycosylation, Type Ia	Decreased circulating IgA level, Kyphosis, Osteopenia, Decreased circulating IgG level, Thrombocy...	OMIM:212065
Gm1-Gangliosidosis, Type I	Vacuolated lymphocytes, Scoliosis, Joint stiffness, Short neck, Hypoplastic vertebral bodies, Kyp...	OMIM:230500
Hereditary Orotic Aciduria	Splenomegaly, Impaired T cell function, Anemia	ORPHA:30
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Joint hyperflexibility	OMIM:614898
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Scoliosis, Osteolysis, Irregular vertebral endplates, Anemia, Kyphosis, Posterior scalloping of v...	ORPHA:3042
Atypical Rett Syndrome	Short foot, Scoliosis, Kyphosis, Small hand	ORPHA:3095
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Scoliosis, Thoracolumbar scoliosis, Kyphosis, Slender finger, Short 5th finger, Genu valgum, Smal...	OMIM:618443
Hemifacial Atrophy, Progressive	Kyphosis	OMIM:141300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Scoliosis, Hip dislocation, Joint stiffness, Finger syndactyly, Synostosis of carpal bones, Kypho...	ORPHA:1005
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Scoliosis, Vertebral fusion, Hypoplastic vertebral bodies, Kyphosis, Clinodactyly of the 5th fing...	ORPHA:2916
Ullrich Congenital Muscular Dystrophy 1	Scoliosis, Hip dislocation, Distal joint laxity, Increased laxity of fingers, Hyperextensibility ...	OMIM:254090
Spastic Paraplegia 46, Autosomal Recessive	Scoliosis, Kyphosis	OMIM:614409
Psoriasis 14, Pustular	Cholangitis, Leukocytosis, Oligoarthritis, Psoriasiform dermatitis, Neutrophilia, Pustule	OMIM:614204
Intellectual Developmental Disorder, Autosomal Dominant 57	Craniosynostosis, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4...	OMIM:618050
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
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