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 (739 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 pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Osteochondrosis Of The Metatarsal Bone	Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o...	ORPHA:564003
Immunodeficiency, Common Variable, 5	Antinuclear antibody positivity, Abnormal T cell count, Chronic decreased circulating total IgG, ...	OMIM:613495
Insulin Autoimmune Syndrome	Insulin resistance, Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Autoimmuni...	ORPHA:411593
Monocyte Chemotactic Disorder	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:252250
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Autoimmune Lymphoproliferative Syndrome	Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t...	OMIM:601859
Eiken Syndrome	Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo...	ORPHA:79106
Immunoglobulin A Deficiency 2	Abnormal lymphocyte morphology, Decreased circulating IgA level, Autoimmunity	OMIM:609529
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ...	OMIM:617006
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology, Complete duplication of the distal phalanges ...	ORPHA:1879
Metatropic Dysplasia	Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Coarse metaphyseal trabecu...	ORPHA:2635
Gnathodiaphyseal Dysplasia	Osteopenia, Mandibular osteomyelitis, Bowing of the long bones, Thickened cortex of long bones, S...	ORPHA:53697
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal u...	ORPHA:3416
Sclerosteosis	Craniofacial hyperostosis, Finger syndactyly, Curved distal phalanges of the hand, Abnormal corti...	ORPHA:3152
Immunodeficiency 18	Recurrent pneumonia, Reduced natural killer cell count, Recurrent otitis media, Lymphopenia, Abno...	OMIM:615615
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Lack of T cell function, Increased cir...	ORPHA:277
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology, Autoimmunity	OMIM:300622
Hip Dysplasia, Beukes Type	Kyphosis, Abnormal epiphysis morphology, Broad femoral neck, Abnormality of the epiphysis of the ...	ORPHA:2114
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
Hereditary Sensory And Autonomic Neuropathy Type 2	Foot acroosteolysis, Abnormal epiphysis morphology, Abnormal hip bone morphology, Abnormal cortic...	ORPHA:970
Diabetes Mellitus, Ketosis-Prone	Insulin resistance, Autoimmunity, Diabetes mellitus, Beta-cell dysfunction	OMIM:612227
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Increased circulating antibod...	ORPHA:1310
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,...	ORPHA:2204
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Immunodeficiency 52	Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulat...	OMIM:617514
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Pyle Disease	Platyspondyly, Genu valgum, Limited elbow extension, Thin bony cortex, Metaphyseal dysplasia, Met...	OMIM:265900
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired ...	OMIM:607594
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4	Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level	OMIM:616911
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Impaired T cell func...	OMIM:240500
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko...	OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia	Antiphospholipid antibody positivity, Increased circulating IgA level, Hepatomegaly, Autoimmune t...	OMIM:603909
Ck Syndrome	Abnormal cortical bone morphology, Joint hypermobility, Abnormal digit morphology, Hyperlordosis,...	OMIM:300831
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve...	OMIM:607271
Brachyolmia Type 1, Hobaek Type	Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Kyphosis, Short iliac bones...	OMIM:271530
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Autoi...	ORPHA:444463
Autoimmune Disease	Autoimmunity, Autoimmune antibody positivity	OMIM:109100
Pemphigus Vulgaris, Familial	Autoimmunity, Autoimmune antibody positivity	OMIM:169610
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Decreased CD4:CD8 ...	OMIM:300853
Cranio-Osteoarthropathy	Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st...	ORPHA:1525
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Autoimmunity, Splenomegaly, Increased circulating antibody level, Lymphoc...	OMIM:614470
Cernunnos-Xlf Deficiency	Lymphopenia, Autoimmunity, Decreased circulating antibody level, Thrombocytopenia, B lymphocytope...	ORPHA:169079
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Skin rash, Autoimmune hemolytic anemia, Abs...	OMIM:619374
Proteus Syndrome	Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Kyphoscoliosis, Thin bony cortex, Cal...	OMIM:176920
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Familial Partial Lipodystrophy, Köbberling Type	Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Diabetes mel...	ORPHA:79084
Combined Immunodeficiency, X-Linked	Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-po...	OMIM:312863
Candidiasis, Familial, 1	Cutaneous anergy, Chronic mucocutaneous candidiasis	OMIM:114580
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m...	ORPHA:90280
Wiskott-Aldrich Syndrome 2	Eczematoid dermatitis, Decreased proportion of CD8-positive T cells, Defective T cell proliferati...	OMIM:614493
Spondylometaphyseal Dysplasia, Pagnamenta Type	Platyspondyly, Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpa...	OMIM:619638
Winchester Syndrome	Carpal osteolysis, Osteolysis involving tarsal bones, Generalized osteoporosis, Broad metacarpals...	OMIM:277950
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Immunodeficiency 25	Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif...	OMIM:610163
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Limitation of joint mobility, Upper limb undergrowth, Pathologic fracture, Abno...	ORPHA:166277
Immunodeficiency, Common Variable, 4	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Recurrent sinusitis,...	OMIM:613494
Mahvash Disease	Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Increased g...	OMIM:619290
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymphopenia, Hepatosplenome...	OMIM:618935
Systemic Lupus Erythematosus 16	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu...	OMIM:614420
Lipase Deficiency, Combined	Pancreatitis, Type II diabetes mellitus	OMIM:246650
Osteogenesis Imperfecta, Type Xxii	Multiple small vertebral fractures, Slender long bone, Bowing of the long bones, Pseudoarthrosis,...	OMIM:619795
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o...	ORPHA:75508
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Familial Expansile Osteolysis	Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex	OMIM:174810
Immunodeficiency 11A	Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi...	OMIM:615206
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ...	ORPHA:1486
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Type I diabetes mellitus, Decreased circulating I...	OMIM:620430
Gorham-Stout Disease	Osteopenia, Cortical irregularity, Osteomyelitis, Pathologic fracture, Abnormal femur morphology,...	ORPHA:73
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Abnorma...	ORPHA:85435
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Abnormal cortical bone ...	ORPHA:2097
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Abnormality of T cell physiology	OMIM:308220
Eosinophilopenia	Allergic rhinitis, Decreased eosinophil count, Autoimmunity	OMIM:131430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Decreased lymphocyte proliferation in res...	ORPHA:331206
Parastremmatic Dwarfism	Genu valgum, Bowing of the long bones, Short neck, Flexion contracture, Scoliosis, Kyphosis	OMIM:168400
Immunoglobulin A Deficiency 1	Decreased circulating IgA level, Autoimmunity	OMIM:137100
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Long proximal phalanx of ...	OMIM:603546
Immunodeficiency 53	Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p...	OMIM:617585
Macrophage Activation Syndrome	Abnormal circulating interleukin concentration, Hepatitis, Abnormality of tumor necrosis factor s...	ORPHA:158061
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Autoimmunity, Arthritis	OMIM:216950
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Slender long bones with narrow diaphyses, Osteopenia, Dense metaphyseal bands	ORPHA:50811
Immunodeficiency By Defective Expression Of Mhc Class Ii	Decreased lymphocyte proliferation in response to mitogen, Abnormal CD4:CD8 ratio, Chronic mucocu...	ORPHA:572
Autoimmune Lymphoproliferative Syndrome, Type Iii	Anticardiolipin IgG antibody positivity, Increased proportion autoreactive unresponsive CD21-/low...	OMIM:615559
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Autoimmune hemolytic anemia, Splen...	OMIM:618495
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Antinuclear antibody ...	OMIM:619375
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Abnormality of tumor necrosis factor secretion, Increased circulating interfero...	ORPHA:540
Melnick-Needles Syndrome	Anisospondyly, Craniofacial hyperostosis, Short distal phalanx of finger, Cone-shaped epiphyses o...	ORPHA:2484
Acromesomelic Dysplasia, Maroteaux Type	Acromesomelia, Vertebral wedging, Abnormal form of the vertebral bodies, Joint stiffness, Joint h...	ORPHA:40
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Decreas...	OMIM:617241
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Fibular bowing, Femoral bowing, Spar...	OMIM:600081
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro...	ORPHA:98813
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Reduced bone mineral density, Brachydactyly, Short femoral neck, Kyphosis, Delayed ossification o...	OMIM:618392
Pachydermoperiostosis	Acne, Small hand, Clubbing of toes, Limitation of joint mobility, Eczematoid dermatitis, Abnormal...	ORPHA:2796
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ...	OMIM:617780
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Autoimmunity, Sple...	OMIM:616005
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent otitis media, Autoimmunity, Splenomegaly, Chronic sinusitis, Arthritis, B ly...	ORPHA:397596
Weismann-Netter Syndrome	Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hyperostosis, Squared iliac ...	OMIM:112350
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Long hallux, Hypoplastic iliac wing, Genu valgum, Delayed pubic bone ossification, Talipes equino...	OMIM:613330
C1Q Deficiency 1	Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus	OMIM:613652
Griscelli Syndrome, Type 2	Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis	OMIM:607624
Congenital Pancreatic Cyst	Jaundice, Pancreatitis	ORPHA:313906
Brachyolmia Type 1, Toledo Type	Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Precocious...	OMIM:271630
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Limitation of joint mobility, Finger swe...	ORPHA:93284
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Bone marrow hypocellularity, Eczematoid dermatitis, Systemic lupus erythematosus, Leukopenia, Acu...	OMIM:616871
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenom...	OMIM:615952
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Premature osteoarthritis, Genu valgum, Abn...	ORPHA:93360
Intermediate Osteopetrosis	Erlenmeyer flask deformity of the femurs, Sandwich appearance of vertebral bodies, Cortical scler...	ORPHA:210110
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Gm1-Gangliosidosis, Type Ii	Platyspondyly, Thoracolumbar kyphosis, Sea-blue histiocytosis, Joint stiffness, Splenomegaly, Hyp...	OMIM:230600
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmunity, Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in...	ORPHA:231154
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Hypophosphatemic ricke...	OMIM:300554
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Premature osteoa...	OMIM:130060
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Recurrent aphthou...	ORPHA:275
Autosomal Recessive Primary Microcephaly	Abnormal cortical bone morphology	ORPHA:2512
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Hypophosphatemic rickets, Fibular bo...	OMIM:241530
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Short neck, Flat...	OMIM:251450
Bone Marrow Failure And Diabetes Mellitus Syndrome	Type I diabetes mellitus, T-cell acute lymphoblastic leukemias, Increased mean corpuscular volume...	OMIM:620044
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Sclerotic vertebral endplate...	ORPHA:289176
Immunodeficiency 98 With Autoinflammation, X-Linked	Decreased circulating IgG level, Antineutrophil antibody positivity, Type I diabetes mellitus, Bo...	OMIM:301078
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Short finger, Sclerosis of skull base, Hip contracture, Knee flexion contracture, ...	OMIM:313420
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Bone marrow hypocellularity, Abnormal proportion of naive CD4 ...	ORPHA:1830
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Interphalangeal joint erosions, Hip contracture,...	OMIM:259600
Hereditary Chronic Pancreatitis	Leukocytosis, Pancreatic calcification, Recurrent pancreatitis, Jaundice, Diabetes mellitus	ORPHA:676
Progressive Pseudorheumatoid Dysplasia	Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla...	OMIM:208230
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Autoimmunity, Decreased circulat...	OMIM:613011
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Osteogenesis Imperfecta, Type Xviii	Femoral bowing, Biconcave vertebral bodies, Joint hypermobility, Bowing of the long bones, Thin b...	OMIM:617952
Acquired Partial Lipodystrophy	Insulin resistance, Autoimmunity, Hepatic steatosis, Lymphocytosis	ORPHA:79087
Osteogenesis Imperfecta, Type X	Platyspondyly, Osteopenia, Recurrent pneumonia, Rhizomelia, Micromelia, Genu valgum, Fibular bowi...	OMIM:613848
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis, Joint contracture	OMIM:611225
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Fibul...	OMIM:277440
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno...	ORPHA:83451
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly	ORPHA:289916
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Osteopenia, Abnormality of carpal bone ossification, Genu valgum, Metaphyseal striations, Slender...	OMIM:608154
Combined Oxidative Phosphorylation Deficiency 52	Adrenal insufficiency, Pancreatitis, Hepatic steatosis, Hypoglycemia	OMIM:619386
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Reduce...	OMIM:619281
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly	ORPHA:27
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:79312
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ...	ORPHA:48377
Systemic Lupus Erythematosus	Nephritis, Systemic lupus erythematosus, Leukopenia, Malar rash, Antinuclear antibody positivity,...	OMIM:152700
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal diaphysis morphology, Short tu...	ORPHA:85184
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Kyphosis, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodac...	ORPHA:3409
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hyperglycemia, Acute pancreatitis, Insulin-resistant diabetes mellitus	OMIM:608600
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Cholecystitis, Sclerosing cholangiti...	ORPHA:69663
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Pancreatitis, Hypoglycemia	OMIM:620137
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short thumb, Overlapping toe, Camptodactyly, Clinodactyly of the 5th finger, Kyphosis	OMIM:618453
Diastrophic Dysplasia	Ulnar deviation of finger, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies,...	ORPHA:628
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Oste...	ORPHA:289157
Sweet Syndrome	Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa...	ORPHA:3243
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Decreased circulating IgG level, Recurrent pneumonia, Decrea...	OMIM:612301
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Autoimmunity, Decreased proport...	OMIM:615758
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Fibular bowing, Femora...	OMIM:300009
Smith-Mccort Dysplasia 1	Platyspondyly, Hypoplastic scapulae, Hypoplasia of the odontoid process, Atlantoaxial instability...	OMIM:607326
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepatomegaly, ...	OMIM:308230
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Pancreatitis, Hepatic steatosis	OMIM:618805
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Splenomegaly, Bowing of the long bones, Short ne...	ORPHA:61
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,...	OMIM:242700
Propionic Acidemia	Eczematoid dermatitis, Hypoglycemia, Pancytopenia, Anemia, Pancreatitis, Neutropenia, Thrombocyto...	OMIM:606054
Hall-Riggs Syndrome	Platyspondyly, Brachydactyly, Metaphyseal dysplasia, Osteoporosis, Scoliosis, Kyphosis, Irregular...	OMIM:234250
Bruck Syndrome 1	Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Increased...	OMIM:259450
Ebola Hemorrhagic Fever	Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody level, Thrombocytopenia, Macul...	ORPHA:319218
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decr...	OMIM:304790
Pparg-Related Familial Partial Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhos...	ORPHA:79083
Maturity-Onset Diabetes Of The Young, Type 13	Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:616329
Unclassified Myelodysplastic Syndrome	Acute myeloid leukemia, Bone marrow hypocellularity, Autoimmunity, Leukocytosis	ORPHA:98827
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Platyspondyly, Osteoporosis, Kyphosis	ORPHA:2786
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Frank-Ter Haar Syndrome	Acne, Camptodactyly of finger, Osteolysis, Joint stiffness, Beaking of vertebral bodies, Abnormal...	ORPHA:137834
Pgm3-Cdg	Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi...	ORPHA:443811
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Genu valgum, Limited elbow movement, Short neck, Flat acetabular r...	ORPHA:94068
Chylous Ascites	Pancreatitis	ORPHA:1160
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Abnormal tibia morphology, Abn...	ORPHA:249
Specific Granule Deficiency 1	Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Recurrent...	OMIM:245480
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Recurrent pneumonia, Decreased lymphocyte proliferation in respo...	ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Absent natural killer cells, Decreased lymphocyte proliferation in r...	OMIM:600802
Igg4-Related Aortitis	Increased circulating IgE level, Increased circulating IgG4 level, Autoimmunity, Hypereosinophili...	ORPHA:449400
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Mitochondrial Complex I Deficiency, Nuclear Type 8	Pancreatitis	OMIM:618230
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Acholic stools, Jaundice, Hep...	ORPHA:65682
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Osteopetrosis, Autosomal Dominant 1	Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ...	OMIM:607634
Immunodeficiency 96	Decreased circulating IgG level, Increased mean corpuscular volume, Eczematoid dermatitis, Increa...	OMIM:619774
Autoimmune Lymphoproliferative Syndrome	Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia, Hypersplenism, Decrea...	ORPHA:3261
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Portal inflammation, Cholestasis, Cholecystitis, Jaundice, Panc...	OMIM:600803
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Small hand, Hip dislocation, Talipes equinovarus, Short foot, Scoliosis, Kyphosis	OMIM:300434
Spondylometaphyseal Dysplasia, Kozlowski Type	Platyspondyly, Hypoplasia of the odontoid process, Dumbbell-shaped femur, Flared metaphysis, Irre...	OMIM:184252
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Platyspondyly, Thoracolumbar kyphosis, Epiphyseal dysplasia, Hypoplasia of the capital femoral ep...	OMIM:617425
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Hypoglycemia, Leukopenia, Hepatomegaly, Pancreatitis, Neutropenia, Thrombocytopenia, Tubulointers...	OMIM:251000
Arthrogryposis, Distal, Type 4	Osteopenia, Camptodactyly of 2nd-5th fingers, Deviation of the 2nd toe, Fibular deviation of toes...	OMIM:609128
Mucopolysaccharidosis, Type Iva	Platyspondyly, Constricted iliac wing, Recurrent pneumonia, Hypoplasia of the odontoid process, G...	OMIM:253000
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Long ...	OMIM:618658
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Ecz...	OMIM:243700
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Infectious encephalitis, Pancr...	ORPHA:549
Microscopic Polyangiitis	Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan...	ORPHA:727
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Recurrent fractures, Bowing of limbs due to multiple fractures, Decreased calvaria...	OMIM:259440
Bruck Syndrome	Platyspondyly, Joint stiffness, Recurrent fractures, Bowing of the long bones, Talipes equinovaru...	ORPHA:2771
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Type I diabetes mellitus, Rheu...	ORPHA:227990
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p...	ORPHA:331235
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Acquired Generalized Lipodystrophy	Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Autoimmunity, Hepatic ...	ORPHA:79086
T-Cell Immunodeficiency With Thymic Aplasia	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Eczematoid dermatitis, Auto...	ORPHA:83471
Primary Sclerosing Cholangitis	Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrhosis, Polyclonal elevati...	ORPHA:171
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi...	ORPHA:227982
Immunodeficiency 32B	Pneumonia, Neutrophilia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, ...	OMIM:226990
Bullous Pemphigoid	Eczematoid dermatitis, Anti-BP180 antibody positivity, Autoimmunity, Psoriasiform dermatitis, Ant...	ORPHA:703
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Bifid femur, Abnormal form of the vertebral bodies, Recurrent fractures, Abnor...	ORPHA:2769
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Arthrogryposis multiplex congenita, Elbow flexion contracture, Hip contracture, Knee flexion cont...	OMIM:600175
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short distal phalanx of finger, Increased circulating IgE level, Hypoplastic iliac wing, Brachyda...	ORPHA:1858
Stüve-Wiedemann Syndrome	Osteopenia, Limitation of joint mobility, Micromelia, Camptodactyly of finger, Elbow flexion cont...	ORPHA:3206
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Reduction of neutrophil motility, Periodontitis, Recurrent otitis media, Brachydactyly...	OMIM:266265
Diabetes Mellitus, Transient Neonatal, 3	Hyperglycemia, Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, ...	OMIM:610582
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ...	ORPHA:449395
Familial Partial Lipodystrophy, Dunnigan Type	Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:2348
Pelger-Huet Anomaly	Short 3rd metacarpal, Eczematoid dermatitis, Giant platelets, Upper limb undergrowth, Recurrent o...	OMIM:169400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Inflammation of the large intestine, Granuloma, Cholestasis, Interface...	ORPHA:562639
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancyt...	OMIM:308240
Bethlem Myopathy 2	Kyphosis, Distal joint hypermobility, Scoliosis, Hip dislocation, Flexion contracture	OMIM:616471
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Short toe, Cervical spinal canal stenosis, Wid...	OMIM:301900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Enlarged metaphyses, Abnormal ilium morphology, Hypoplasia of the odontoid process, Postaxial foo...	ORPHA:508533
Insulin-Resistance Syndrome Type B	Insulin-resistant diabetes mellitus, Systemic lupus erythematosus, Hyperglycemia, Hyperinsulinemi...	ORPHA:2298
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Abnormality of the cervical spine, Finger joint contracture, Osteoporosis, Scoliosis, Kyphosis, F...	ORPHA:48431
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Neutropen...	OMIM:271510
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Talipes equinovarus, Scoliosis, Kyphosis	OMIM:617087
Thymoma	Rheumatoid arthritis, Aplastic anemia, Anti-acetylcholine receptor antibody positivity, Systemic ...	ORPHA:99867
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Metaphyseal irregularity, Abnormal pelvic girdle bone morphology, R...	OMIM:307800
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Diabetes mellitus, Pan...	OMIM:167800
Spondyloperipheral Dysplasia	Broad thumb, Absent styloid process of ulna, Short neck, Flat acetabular roof, Short distal phala...	OMIM:271700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Recurrent pneumonia, Atopic dermatitis, Reduced natural killer c...	OMIM:619752
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Immunodeficiency 17	Abnormal B cell morphology, Eczematoid dermatitis, Chronic decreased circulating IgG2, Recurrent ...	OMIM:615607
Adult Acute Respiratory Distress Syndrome	Pneumonia, Abnormal circulating interleukin concentration, Abnormality of tumor necrosis factor s...	ORPHA:70578
Seckel Syndrome 10	Insulin resistance, Acute pancreatitis, Elevated circulating luteinizing hormone level, Glycosuri...	OMIM:617253
Myasthenic Syndrome, Congenital, 25, Presynaptic	Joint hypermobility, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:618323
Lenz-Majewski Hyperostotic Dwarfism	Aplastic clavicle, Limitation of joint mobility, Finger syndactyly, Cranial hyperostosis, Facial ...	ORPHA:2658
Oculodentodigital Dysplasia	Toe syndactyly, Abnormal form of the vertebral bodies, Cranial hyperostosis, Camptodactyly of fin...	ORPHA:2710
Frank-Ter Haar Syndrome	Osteopenia, Flared metaphysis, Cortical irregularity, Anterior concavity of thoracic vertebrae, K...	OMIM:249420
Rothmund-Thomson Syndrome	Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi...	ORPHA:2909
X-Linked Intellectual Disability, Stocco Dos Santos Type	Talipes equinovarus, Congenital bilateral hip dislocation, Kyphosis	ORPHA:85288
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Hip dislocation, Rhizomelia, Limitation of joint mobility, Abnorm...	ORPHA:3098
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Periostitis, Osteopenia, Osteomyelitis, Splenomegaly, Skin rash, Abscess, Pustule, Neutrophilia, ...	OMIM:612852
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Eczematoid dermatitis, Kyphosis, Hip dysplasia	OMIM:620007
Cach Syndrome	Optic neuritis, Hepatosplenomegaly, Pancreatitis	ORPHA:135
Acute Lung Injury	Pneumonia, Abnormality of tumor necrosis factor secretion, Abnormal circulating cytokine concentr...	ORPHA:178320
Mitochondrial Complex I Deficiency, Nuclear Type 11	Osteoporosis, Scoliosis, Kyphosis	OMIM:618234
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th...	ORPHA:457395
Osteogenesis Imperfecta	Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Decreased skull ossification...	ORPHA:666
Tropical Pancreatitis	Insulin-dependent but ketosis-resistant diabetes, Pancreatic adenocarcinoma, Chronic calcifying p...	ORPHA:103918
Osteogenesis Imperfecta, Type Viii	Platyspondyly, Osteopenia, Radial bowing, Slender long bone, Recurrent fractures, Femoral bowing,...	OMIM:610915
Immunodeficiency 7	Recurrent otitis media, Autoimmunity, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemi...	OMIM:615387
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Type II diabetes mellitus, Hypothyroidism, Iridocyclitis, Pancreatitis	ORPHA:412057
Rat-Bite Fever	Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Anemia, Oligoarthri...	ORPHA:31205
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Sialidosis Type 2	Osteoporosis, Splenomegaly, Flexion contracture, Kyphosis	ORPHA:87876
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis, Spinal rigidity	OMIM:300718
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Dysplasia of the femoral head, Arachnodactyly, Radioulnar synostosis, T...	ORPHA:536467
Type 1 Diabetes Mellitus	Hyperglycemia, Autoimmunity, Diabetes mellitus	OMIM:222100
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Insulin-resistant diabetes mellitus	ORPHA:435651
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Antineutrophil antibody positivity, Type I diabetes mellitus, Hepatitis, Hepatosplenomegaly, Auto...	ORPHA:228426
Osteogenesis Imperfecta, Type Iii	Slender long bone, Recurrent fractures, Bowing of limbs due to multiple fractures, Biconcave vert...	OMIM:259420
X-Linked Agammaglobulinemia	Recurrent pneumonia, Hepatitis, Osteomyelitis, Autoimmunity, Skin rash, Agammaglobulinemia, Anemi...	ORPHA:47
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan...	OMIM:603471
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Talipes equinovarus, Scoliosis, Hip dislocation	OMIM:616756
Purine Nucleoside Phosphorylase Deficiency	Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, L...	OMIM:613179
Ullrich Congenital Muscular Dystrophy	Slender finger, Hip dislocation, Elbow flexion contracture, Wrist hypermobility, Increased laxity...	ORPHA:75840
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Leukocytosis, Pericarditis	ORPHA:188
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps...	ORPHA:183675
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Kyphoscoliosis, Talipes equinovarus, Short neck, Thin bony cortex, Long fingers, Ost...	OMIM:309583
Iga Pemphigus	Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul...	ORPHA:555905
Rothmund-Thomson Syndrome Type 2	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Pathologic...	ORPHA:221016
Mucopolysaccharidosis Type 4	Platyspondyly, Abnormal epiphysis morphology, Spinal canal stenosis, Genu valgum, Reduced bone mi...	ORPHA:582
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of...	OMIM:313400
Rothmund-Thomson Syndrome Type 1	Abnormal trabecular bone morphology, Osteopenia, Aplastic anemia, Patellar hypoplasia, Metaphysea...	ORPHA:221008
Mucopolysaccharidosis, Type Ivb	Platyspondyly, Constricted iliac wing, Hypoplasia of the odontoid process, Bilateral talipes equi...	OMIM:253010
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Knee flexion contracture, Talipes equinovarus, Hyperlordosis, Achilles tendon co...	OMIM:615290
Congenital Syphilis	Pneumonia, Keratitis, Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Synovitis, ...	ORPHA:499009
Microcephalic Primordial Dwarfism, Montreal Type	Reduced bone mineral density, Scoliosis, Kyphosis, Vertebral segmentation defect	ORPHA:2617
Spondyloenchondrodysplasia With Immune Dysregulation	Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Increased intervertebral space, Metaph...	OMIM:607944
Psoriasis-Related Juvenile Idiopathic Arthritis	Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Sacroiliac...	ORPHA:85436
Sandhoff Disease	Splenomegaly, Kyphosis	ORPHA:796
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ...	OMIM:618986
Mhc Class Ii Deficiency 1	Cutaneous anergy, Chronic mucocutaneous candidiasis, Panhypogammaglobulinemia, Biliary tract abno...	OMIM:209920
Igg4-Related Ophthalmic Disease	Keratitis, Increased circulating IgE level, Increased circulating IgG4 level, Orchitis, Antinucle...	ORPHA:449563
Fetal Akinesia Deformation Sequence 4	Short neck, Camptodactyly, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis	OMIM:618393
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ...	OMIM:300106
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Autoimmunity, Splenomegaly, Autoimmune hemo...	ORPHA:100026
Tropical Calcific Pancreatitis	Pancreatic calcification, Insulin-dependent but ketosis-resistant diabetes, Chronic pancreatitis,...	OMIM:608189
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Rocker bottom foot, Talipes equinovarus, Short neck, Hip dysplasia, Scoliosis, Ar...	OMIM:611890
Wiskott-Aldrich Syndrome	Inflammation of the large intestine, Increased circulating IgE level, Abnormal delayed hypersensi...	OMIM:301000
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Scoliosis, Kyphosis, Large hands, Tapered finger	ORPHA:276630
Weill-Marchesani Syndrome 1	Broad phalanges of the hand, Spinal canal stenosis, Joint stiffness, Lumbar hyperlordosis, Brachy...	OMIM:277600
Dysostosis, Stanescu Type	Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Abnormal metap...	ORPHA:1798
Cdkl5-Deficiency Disorder	Hallux valgus, Broad proximal phalanges of the hand, Scoliosis, Kyphosis	ORPHA:505652
Spondyloepiphyseal Dysplasia Congenita	Platyspondyly, Hip dislocation, Hypoplasia of the odontoid process, Atlantoaxial instability, Lim...	OMIM:183900
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Osteopenia, Increased mean corpuscular volume, Persistence of hemogl...	OMIM:618849
Masa Syndrome	Talipes equinovarus, Adducted thumb, Kyphosis, Hyperlordosis	OMIM:303350
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM...	OMIM:300861
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormal cortical bone morphology	OMIM:614886
Alopecia Totalis	Inflammation of the large intestine, Type I diabetes mellitus, Autoimmunity	ORPHA:700
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Joint contracture of the hand, Congenital contracture, Shoulder flexio...	ORPHA:536516
Gm1-Gangliosidosis, Type Iii	Platyspondyly, Hypoplastic acetabulae, Splenomegaly, Flared iliac wing, Anterior beaking of lumba...	OMIM:230650
Maple Syrup Urine Disease, Type Ia	Pancreatitis, Hypoglycemia	OMIM:248600
Idiopathic Juvenile Osteoporosis	Osteoporosis, Vertebral compression fracture, Recurrent fractures, Kyphosis	ORPHA:85193
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Scoliosis, Hyperlordosis, Spinal rigidity	OMIM:617404
Coccidioidomycosis	Pneumonia, Folliculitis, Granuloma, Abnormality of the spleen, Morbilliform rash, Osteomyelitis, ...	ORPHA:228123
Ruvalcaba Syndrome	Small hand, Micromelia, Limited elbow extension, Short phalanx of finger, Short metacarpal, Short...	OMIM:180870
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Decreased circulating antibody level, Scoliosis, Kyphosis	ORPHA:85317
Obesity Due To Congenital Leptin Deficiency	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Decreased proportion of CD4-positive helpe...	ORPHA:66628
Igg4-Related Pachymeningitis	Nephritis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis...	ORPHA:449427
Achondroplasia	Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Cervical spinal canal stenosis, Shor...	ORPHA:15
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal form of the vertebral bodies, Abnormal m...	ORPHA:1354
Fountain Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Difference Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Short neck, Spina bifida occulta, Reduced bone mineral density, Kyphosis	ORPHA:2983
Camurati-Engelmann Disease	Limitation of joint mobility, Abnormal tibia morphology, Genu valgum, Metaphyseal dysplasia, Abno...	ORPHA:1328
Dent Disease	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Sparse bone trabeculae...	ORPHA:1652
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Lymphopenia, Autoimmunity, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Interface hepati...	OMIM:243150
Obesity Due To Leptin Receptor Gene Deficiency	Insulin-resistant diabetes mellitus, Hyperinsulinemia, Decreased proportion of CD4-positive helpe...	ORPHA:179494
Glycogen Storage Disease Ib	Inflammation of the large intestine, Hypoglycemia, Gout, Splenomegaly, Pancreatitis, Pancreatic f...	OMIM:232220
Caroli Syndrome	Intrahepatic cholestasis, Hypersplenism, Leukopenia, Portal hypertension, Leukocytosis, Congenita...	ORPHA:480520
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Pancytopenia, Autoimmunity, Splenomegaly, Anemia, Panniculitis	OMIM:618398
Flynn-Aird Syndrome	Joint stiffness, Scoliosis, Kyphosis, Bone cyst	ORPHA:2047
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Abnormal circulating interleukin concentration, Reduced natural killer cell count, Hemophagocytos...	ORPHA:158057
Aspartylglucosaminuria	Abnormal vertebral morphology, Joint stiffness, Abnormal cortical bone morphology, Splenomegaly, ...	ORPHA:93
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatic amyloidosis, Decreased response to growth hormone stimulation test, Hep...	ORPHA:470
Weill-Marchesani Syndrome 2	Broad phalanges of the hand, Spinal canal stenosis, Elbow flexion contracture, Short finger, Lumb...	OMIM:608328
Systemic-Onset Juvenile Idiopathic Arthritis	Autoimmunity, Skin rash, Splenomegaly, Hepatomegaly, Arthritis, Juvenile rheumatoid arthritis, Pe...	ORPHA:85414
Igg4-Related Thyroid Disease	Graves disease, Anti-thyroglobulin antibody positivity, Increased circulating IgG4 level, Autoimm...	ORPHA:64744
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Recurrent pancreatitis	OMIM:145001
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex congenita, Eczema...	ORPHA:352490
Osteogenesis Imperfecta, Type Iv	Femoral bowing present at birth, straightening with time, Recurrent fractures, Biconcave flattene...	OMIM:166220
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hepatosplenomegaly, Hepatic steatosis, Recurrent pancreatitis, Perianal absce...	ORPHA:444490
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Arthrogryposis multiplex congenita, Kyphoscoliosis, Talipes equinovarus, Flexion contracture of f...	OMIM:618484
Zygomycosis	Nephritis, Brain abscess, Hepatitis, Fasciitis, Infectious encephalitis, Pustule, Peritonitis, En...	ORPHA:73263
Vulvovaginal Gingival Syndrome	Abnormality of tumor necrosis factor secretion	ORPHA:83453
Spondyloocular Syndrome	Platyspondyly, Osteopenia, Overlapping toe, Arachnodactyly, Femur fracture, Long toe, Thin bony c...	OMIM:605822
Hurler Syndrome	Hypoplasia of the odontoid process, Cranial hyperostosis, Recurrent otitis media, Hepatosplenomeg...	OMIM:607014
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Inflammation of the large intestine, Periodontitis, Hypogl...	ORPHA:79259
Pycnodysostosis	Coronal craniosynostosis, Spondylolysis, Small hand, Rhizomelia, Short finger, Hypoplastic iliac ...	ORPHA:763
Pemphigus Erythematosus	Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematosus, Autoimmunity, Mala...	ORPHA:79480
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Arachnodactyly, Joint stiffness, Scoliosis, Kyphosis	ORPHA:1548
Mody	Glycosuria, Insulin-resistant diabetes mellitus, Pancreatic hypoplasia, Exocrine pancreatic insuf...	ORPHA:552
Intellectual Developmental Disorder, Autosomal Dominant 23	Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly, Hyperlordosis, Scoliosis, Kyph...	OMIM:615761
Campomelic Dysplasia	Small abnormally formed scapulae, Hip dislocation, Tracheomalacia, Recurrent fractures, Femoral b...	ORPHA:140
Gm1 Gangliosidosis	Platyspondyly, Coarse metaphyseal trabecularization, Abnormal form of the vertebral bodies, Abnor...	ORPHA:354
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
3-Hydroxy-3-Methylglutaric Aciduria	Recurrent hypoglycemia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Anemia, Nonk...	ORPHA:20
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Hypomelanosis Of Ito	Clinodactyly, Radial deviation of finger, Hand polydactyly, Scoliosis, Kyphosis, Syndactyly	OMIM:300337
Stuve-Wiedemann Syndrome 1	Short tibia, Metaphyseal rarefaction, Bowing of the long bones, Short neck, Hypoplastic iliac bod...	OMIM:601559
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com...	OMIM:301081
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis	OMIM:615947
Mccune-Albright Syndrome	Bone marrow hypocellularity, Increased circulating cortisol level, Increased circulating prolacti...	ORPHA:562
Pauci-Immune Glomerulonephritis	Arteritis, Cytoplasmic antineutrophil antibody positivity, Scleritis, Antinuclear antibody positi...	ORPHA:93126
Primary Triglyceride Deposit Cardiomyovasculopathy	Inflammatory abnormality of the skin, Splenomegaly, Pancreatitis, Hepatomegaly, Vacuolated lympho...	ORPHA:565612
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Joint stiffness, Genu valgum, Splenomegaly, Short neck, Sinusitis, Chronic ...	ORPHA:583
Fibrosis Of Extraocular Muscles, Congenital, 3C	Kyphosis	OMIM:609384
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Uveitis, Hypoglycemia, Lymphopenia, Abnormal lymphocyte mo...	ORPHA:99826
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Hand clenching, Clubbing of toes, Joint hypermobility, Arachnodactyly, Metaphyseal wi...	OMIM:620083
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Pancreatitis, Aspiration pneumonia	ORPHA:431361
Sjögren-Larsson Syndrome	Inflammatory abnormality of the eye, Joint stiffness, Scoliosis, Kyphosis	ORPHA:816
Aregenerative Anemia	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea...	ORPHA:101096
Faciocardiomelic Syndrome	Osteopenia, Slender long bone, Hypoplastic pelvis, Polydactyly, Cuboid-shaped vertebral bodies, T...	OMIM:612731
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Hepatosplenomegaly, Hemolytic anemia, Portal hypertension, Hepatic steatosis, C...	OMIM:619487
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hand clenching, Hip dislocation, Congenital hip dislocation, Arthrogryposis multiplex congenita, ...	OMIM:618291
Mitochondrial Myopathy And Sideroblastic Anemia	Anemia, Scoliosis, Kyphosis	ORPHA:2598
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Inflammatory abnormality of the skin, Portal fibrosis, Eczematoid dermatitis, Hepat...	ORPHA:3260
Craniotubular Dysplasia, Ikegawa Type	Platyspondyly, Broad femoral neck, Sclerosis of skull base, Increased intervertebral space, Diaph...	OMIM:619727
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Clinodactyly, Short neck, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Kyp...	ORPHA:178148
Granulomatosis With Polyangiitis	Autoimmunity, Otitis media, Skin rash, Increased inflammatory response, Prostatitis, Pancreatitis...	ORPHA:900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Insulin resistance, Hepatic steatosis, Splenomegaly, Pancreatitis, Hepatomegaly, Diabetes mellitus	ORPHA:280365
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu valgum, Intervertebral space narrowing, Narrow vertebral interpedicular distance, Talipes eq...	OMIM:143095
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Abnormal circulating interleukin concentration, Absence o...	ORPHA:79124
Intellectual Disability-Developmental Delay-Contractures Syndrome	Limitation of joint mobility, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Congenital foo...	ORPHA:3454
Autoimmune Hemolytic Anemia, Warm Type	Systemic lupus erythematosus, Autoimmunity, Splenomegaly, Autoimmune hemolytic anemia, Chronic ly...	ORPHA:90033
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Joint stiffness, ...	ORPHA:392
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Pancreatitis, Hepatic steatosis	OMIM:236200
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Sandal gap, Camptodactyly of finger, Bicoronal synostosis, Joint hypermobility, 3-4 finger cutane...	OMIM:619951
Pigmented Nodular Adrenocortical Disease, Primary, 2	Primary hypercortisolism, Pancreatitis, Increased circulating cortisol level	OMIM:610475
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Increased suscept...	ORPHA:98849
3M Syndrome	Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Increased vertebra...	ORPHA:2616
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Recurrent fractures, Short humerus, Lateral femoral b...	OMIM:239000
Dysbetalipoproteinemia	Acute pancreatitis, Gout, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Diabetes mellitus	ORPHA:412
X-Linked Charcot-Marie-Tooth Disease Type 1	Scoliosis, Kyphosis	ORPHA:101075
Mitochondrial Complex I Deficiency, Nuclear Type 15	Flexion contracture, Kyphosis	OMIM:618237
Sjogren Syndrome	Rheumatoid arthritis, Xerostomia, Autoimmunity, Keratoconjunctivitis sicca, Tubulointerstitial ne...	OMIM:270150
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Increased circulating IgA ...	OMIM:617099
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, Increased circulating IgE le...	OMIM:620565
Glycogen Storage Disease Ia	Hypoglycemia, Gout, Pancreatitis, Fasting hypoglycemia, Hepatomegaly, Hepatocellular carcinoma	OMIM:232200
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Membrano...	OMIM:619644
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Platyspondyly, Erlenmeyer flask deformity of the femurs, Craniofacial o...	OMIM:618476
Mucopolysaccharidosis, Type Vii	Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo...	OMIM:253220
Peripheral Primitive Neuroectodermal Tumor	Anemia, Jaundice, Pancreatitis, Neoplasm of the pancreas	ORPHA:370348
Occipital Horn Syndrome	Synostosis of joints, Osteomalacia, Humerus varus, Esophagitis, Genu valgum, Abnormal fibula morp...	ORPHA:198
Schaaf-Yang Syndrome	Small hand, Rocker bottom foot, Clinodactyly, Short foot, Brachydactyly, Camptodactyly, Flexion c...	OMIM:615547
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Abnormal circulating interleukin concentration, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,...	OMIM:618131
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Distal arthrogryposis, Congenital finger f...	OMIM:108145
Uruguay Faciocardiomusculoskeletal Syndrome	Congenital hip dislocation, Joint contracture of the hand, Limited elbow movement, Kyphoscoliosis...	OMIM:300280
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Micromelia, Joint stiffness, Joint hypermobility, Abnor...	ORPHA:2655
Cole-Carpenter Syndrome 2	Platyspondyly, Lambdoidal craniosynostosis, Osteopenia, Coronal craniosynostosis, Recurrent fract...	OMIM:616294
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Peritonitis, Pancreatitis, Schi...	ORPHA:90038
Stickler Syndrome, Type I	Platyspondyly, Abnormal femoral epiphysis morphology, Joint stiffness, Irregular femoral epiphysi...	OMIM:108300
Intellectual Developmental Disorder, Autosomal Dominant 26	Arthrogryposis multiplex congenita, Clinodactyly of the 5th finger, Scoliosis, Kyphosis	OMIM:615834
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Congenital hip dislocation, Dislocation of the femoral head, Scoliosis, Kyphosis, Hyperextensibil...	OMIM:619797
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Joint hypermobility, Arachnodactyly, Adducted thumb, Shoulder dislocation, Scoliosis, Kyphosis	ORPHA:2181
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Micromelia, Joint stiffness, Femoral bowing, Bowing of the long ...	ORPHA:1860
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Scoliosis, Kyphosis	ORPHA:2429
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Impaired T cell function, Anisocytosis, Hypochromia, Po...	OMIM:258900
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai...	OMIM:614576
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Metatarsus valgus, ...	ORPHA:3082
Clark-Baraitser syndrome	Genu valgum, Joint hypermobility, Scoliosis, Kyphosis, Short palm, Tapered finger	OMIM:300602
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis	ORPHA:26791
Citrullinemia Type Ii	Hepatic fibrosis, Hepatic steatosis, Pancreatitis, Hepatomegaly, Hepatocellular carcinoma	ORPHA:247585
Ruvalcaba Syndrome	Small hand, Cone-shaped epiphysis, Synostosis of carpal bones, Micromelia, Abnormal vertebral epi...	ORPHA:3121
Familial Mediterranean Fever	Erysipelas, Leukocytosis, Skin rash, Splenomegaly, Orchitis, Peritonitis, Pancreatitis, Arthritis...	ORPHA:342
Mucolipidosis Iii Alpha/Beta	Shallow acetabular fossae, Limitation of joint mobility, Irregular carpal bones, Spondylolisthesi...	OMIM:252600
Igg4-Related Submandibular Gland Disease	Xerostomia, Abnormal pancreas morphology, Increased circulating IgE level, Increased circulating ...	ORPHA:449432
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Kyphosis	ORPHA:101078
Infection-Related Hemolytic Uremic Syndrome	Pneumonia, Brain abscess, Hemolytic anemia, Leukocytosis, Pancreatitis, Thrombocytopenia, Myocard...	ORPHA:544482
Myofibrillar Myopathy 10	Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi...	OMIM:619040
Crimean-Congo Hemorrhagic Fever	Morbilliform rash, Pancytopenia, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundice, Epididym...	ORPHA:99827
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Increased circulating IgE level, Leukocytosis, Pancolitis, Decreased T cell a...	OMIM:618213
4Q21 Microdeletion Syndrome	Small hand, Toe syndactyly, Micromelia, Short neck, Short foot, Scoliosis, Kyphosis, Short palm	ORPHA:238750
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Metatarsus valgus, Joint hypermobility, Genu varum, Scoliosis, Kyphosis, Tapered finger	ORPHA:2479
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Osteoporosis, Scoliosis, Kyphosis, Joint contracture	OMIM:615381
Lipodystrophy, Familial Partial, Type 2	Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ...	OMIM:151660
Brachyolmia Type 3	Platyspondyly, Radial deviation of finger, Clinodactyly, Short femoral neck, Proximal femoral met...	OMIM:113500
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Joint hypermobility	ORPHA:319199
19P13.12 Microdeletion Syndrome	Toe clinodactyly, Finger syndactyly, Sandal gap, Clinodactyly of the 5th finger, Short neck, Cran...	ORPHA:254346
Mucolipidosis Iii Gamma	Joint stiffness, Genu valgum, Claw hand deformity, Flared iliac wing, Short neck, Flat capital fe...	OMIM:252605
Lopes-Maciel-Rodan Syndrome	Small hand, Short foot, Scoliosis, Kyphosis	OMIM:617435
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Rheumatoid arthritis, Increased circulating inter...	ORPHA:85410
Melas	Type I diabetes mellitus, Type II diabetes mellitus, Recurrent pancreatitis, Hypothyroidism, Anem...	ORPHA:550
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Hip dislocation, Periodontitis, Sandal gap, Equinus calcaneus, Abnormal toe morpholog...	ORPHA:536532
Hyper-Igd Syndrome	Neutrophilia, Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Increased...	OMIM:260920
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormal hip bone morphology, Short neck, Hyperlordosis, Kyphos...	ORPHA:2522
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Ab...	ORPHA:192
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Split hand, Scoliosis, Kyphosis	OMIM:618124
Shashi-Pena Syndrome	Kyphosis, Cervical C2/C3 vertebral fusion, Osteoporosis, Scoliosis, Short metacarpal	OMIM:617190
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Achilles tendon contracture, Congenital finger flexion contr...	OMIM:620351
Subaortic Stenosis-Short Stature Syndrome	Synostosis of carpal bones, Short neck, Scoliosis, Acne, Kyphosis	ORPHA:3191
Lysinuric Protein Intolerance	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Pancreatitis, Thrombocytopenia, Hepatomegaly	OMIM:222700
Spondyloenchondrodysplasia	Platyspondyly, Pneumonia, Hypoplastic ilia, Short distal phalanx of finger, Granuloma, Hepatitis,...	ORPHA:1855
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Splenomegaly, Ski...	ORPHA:829
Myopathy, Centronuclear, 2	Talipes equinovarus, Hyperlordosis, Flexion contracture, Scoliosis, Kyphosis	OMIM:255200
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Mulibrey Nanism	Thickened cortex of long bones	OMIM:253250
Multiple Pterygium Syndrome, Escobar Variant	Dysplastic patella, Patellar aplasia, Arachnodactyly, Talipes equinovarus, Short neck, Thoracolum...	OMIM:265000
Stevens-Johnson Syndrome	Pancreatitis, Thrombocytopenia, Anemia, Conjunctivitis, Abnormality of neutrophils	ORPHA:36426
Behçet Disease	Recurrent aphthous stomatitis, Splenomegaly, Infectious encephalitis, Increased inflammatory resp...	ORPHA:117
Cystic Fibrosis	Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ch...	OMIM:219700
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Pancreatitis	OMIM:145980
Trisomy 20P	Platyspondyly, Abnormal form of the vertebral bodies, Finger syndactyly, Camptodactyly of finger,...	ORPHA:261318
Mgat2-Cdg	Decreased circulating IgG level, Osteopenia, Brachydactyly, Impaired lymphocyte transformation wi...	ORPHA:79329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Scoliosis, Kyphosis	OMIM:606612
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Short toe, Kyphosis, Hyperlordosis, Brachydactyly	ORPHA:3085
Hypocalciuric Hypercalcemia, Familial, Type Ii	Pancreatitis, Primary hyperparathyroidism	OMIM:145981
Hajdu-Cheney Syndrome	Osteopenia, Short distal phalanx of finger, Coarse metaphyseal trabecularization, Periodontitis, ...	ORPHA:955
Toxic Epidermal Necrolysis	Pancreatitis, Thrombocytopenia, Neutropenia, Anemia, Conjunctivitis	ORPHA:537
Mirizzi Syndrome	Cholelithiasis, Pancreatitis, Abnormal ductus choledochus morphology, Gallbladder perforation, Ja...	ORPHA:521219
Glycogen Storage Disease Ic	Inflammation of the large intestine, Hypoglycemia, Cyclic neutropenia, Gout, Chronic pancreatitis...	OMIM:232240
Kleefstra Syndrome 2	Scoliosis, Kyphosis	OMIM:617768
Thanatophoric Dysplasia Type 2	Platyspondyly, Limitation of joint mobility, Micromelia, Joint hypermobility, Brachydactyly, Abno...	ORPHA:93274
Typical Nemaline Myopathy	Hip dislocation, Arthrogryposis multiplex congenita, Genu valgum, Short neck, Hyperlordosis, Genu...	ORPHA:171436
Wieacker-Wolff Syndrome	Hip dislocation, Arthrogryposis multiplex congenita, Congenital foot contractures, Talipes equino...	OMIM:314580
Pneumocystosis	Interstitial pneumonitis, Increased circulating antibody level, Acute infectious pneumonia, Abnor...	ORPHA:723
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Small hand, Sandal gap, Joint hypermobility, Brachydactyly, Short foot, Kyphosis	OMIM:300354
Cleidocranial Dysplasia 1	Aplastic clavicle, Spondylolysis, Hypoplastic scapulae, Hip dislocation, Short femoral neck, Hypo...	OMIM:119600
Poland Syndrome	Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the thumb, Short neck, Abnor...	ORPHA:2911
15Q24 Microdeletion Syndrome	Small hand, Clinodactyly, Abnormal thumb morphology, Joint hypermobility, Brachydactyly, Scoliosi...	ORPHA:94065
Wieacker-Wolff Syndrome, Female-Restricted	Hip dislocation, Radial deviation of the hand, Hip contracture, Limited shoulder movement, Talipe...	OMIM:301041
Car T Cell Therapy-Associated Cytokine Release Syndrome	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentrat...	ORPHA:542323
Baralle-Macken Syndrome	Kyphosis, Tapered finger	OMIM:619255
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Leukocytosis, Pustule, Eosinophilic dermal infiltra...	ORPHA:293173
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Joint hypermobility	ORPHA:1875
Neutral Lipid Storage Disease With Myopathy	Chronic pancreatitis, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus	OMIM:610717
Schwartz-Jampel Syndrome	Genu valgum, Hip contracture, Bowing of the long bones, Talipes equinovarus, Short neck, Protrusi...	ORPHA:800
Weaver Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe...	OMIM:277590
Lipodystrophy, Congenital Generalized, Type 1	Acute pancreatitis, Hyperinsulinemia, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatomegaly, D...	OMIM:608594
Crisponi Syndrome	Limitation of joint mobility, Camptodactyly of finger, Flexion contracture, Scoliosis, Kyphosis	ORPHA:1545
Acth-Independent Macronodular Adrenal Hyperplasia	Osteoporosis, Osteopenia, Kyphosis	OMIM:219080
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Eczematoid dermatitis, Prominent protruding coccyx, Joint hypermobility, Short neck, ...	OMIM:300966
Acro-Renal-Mandibular Syndrome	Hypoplastic scapulae, Hip dislocation, Finger syndactyly, Rudimentary fibula, Rudimentary to abse...	ORPHA:958
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Recurrent otitis media, Exocrine pancreatic insufficiency, Splenomegaly, Recurren...	OMIM:618268
Lipodystrophy, Congenital Generalized, Type 2	Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Splenomegaly, Cirrhosis, Hepatome...	OMIM:269700
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Pancytopenia, Joint hypermobility, Thin bony cortex, Anemia, Scoliosis, Redu...	OMIM:613658
Martsolf Syndrome 1	Broad femoral neck, Tracheomalacia, Short toe, Slender ulna, Lumbar hyperlordosis, Avascular necr...	OMIM:212720
Familial Hypocalciuric Hypercalcemia	Autoimmunity, Pancreatitis	ORPHA:405
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Bullet-shaped...	OMIM:602535
Scapuloperoneal Spinal Muscular Atrophy	Small hand, Clinodactyly, Talipes equinovarus, Hyperlordosis, Metatarsus adductus, Hip dysplasia,...	OMIM:181405
Marinesco-Sjogren Syndrome	Kyphosis, Short metatarsal, Scoliosis, Flexion contracture, Short metacarpal, Coxa valga	OMIM:248800
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Hip dislocation, Scoliosis, Kyphosis	ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 8

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