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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Abnormal form of the vert... ORPHA:1802
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Defective T ce... OMIM:615615
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Osteomesopyknosis
Kyphosis, Abnormal form of the vertebral bodies, Increased bone mineral density, Sclerotic verteb... ORPHA:2777
Osteochondrosis Of The Metatarsal Bone
Abnormality of the third metatarsal bone, Sclerosis of foot bone, Flattened metatarsal heads, Joi... ORPHA:564003
Insulin Autoimmune Syndrome
Autoimmunity, Fasting hypoglycemia, Insulin resistance, Nonketotic hypoglycemia, Autoimmune antib... ORPHA:411593
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Endosteal Hyperostosis, Worth Type
Clavicular sclerosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Sclerotic... ORPHA:2790
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Kyphosis, Abnorm... ORPHA:3344
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Short palm, Abnormal trabecular bone mor... ORPHA:79106
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Autoimmunity, Increased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Colitis, I... OMIM:617006
Metatropic Dysplasia
Joint stiffness, Kyphosis, Abnormal enchondral ossification, Abnormal form of the vertebral bodie... ORPHA:2635
Immunoglobulin A Deficiency 2
Autoimmunity, Decreased circulating IgA level, Abnormal lymphocyte morphology OMIM:609529
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Autoimmunity, Sinusitis, Recurrent pneumonia, Recurrent otitis media, T lymphocytopenia, Lack of ... ORPHA:277
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Abnormal cortical bone morphology, Oste... ORPHA:1879
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Diaphyseal thickening, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Sclerosteosis
Finger syndactyly, Increased bone mineral density, Craniofacial hyperostosis, Diaphyseal thickeni... ORPHA:3152
Gnathodiaphyseal Dysplasia
Bowing of the long bones, Osteopenia, Recurrent fractures, Thickened cortex of long bones, Mandib... ORPHA:53697
Brachyolmia Type 1, Hobaek Type
Osteopenia, Short neck, Short femoral neck, Kyphosis, Intervertebral space narrowing, Back pain, ... OMIM:271530
Hip Dysplasia, Beukes Type
Kyphosis, Abnormality of the epiphysis of the femoral head, Abnormality of epiphysis morphology, ... ORPHA:2114
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Diabetes Mellitus, Ketosis-Prone
Autoimmunity, Diabetes mellitus, Beta-cell dysfunction, Insulin resistance OMIM:612227
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormal hip bone morphology, Abnormality of epiphysis morphology, Tapered finger, Hyperlordosis,... ORPHA:970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Cernunnos-Xlf Deficiency
Autoimmunity, T lymphocytopenia, Thrombocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Dysplastic Cortical Hyperostosis
Abnormality of limb bone morphology, Increased bone mineral density, Splenomegaly, Limb undergrow... ORPHA:2204
Immunodeficiency 64
Decreased circulating IgG level, Hepatosplenomegaly, Increased circulating IgG level, Abnormal CD... OMIM:618534
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Genu varum, Bulging epiphyses, Metaphyseal irregularity, Sparse bone tr... OMIM:600785
Caffey Disease
Cortical irregularity, Increased circulating antibody level, Periosteal thickening of long tubula... ORPHA:1310
Metaphyseal Dysplasia, Braun-Tinschert Type
Upper limb metaphyseal widening, Flared femoral metaphysis, Broad femoral neck, Deformed humerus,... ORPHA:85188
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, S... ORPHA:444463
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Hypopl... OMIM:267500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Ck Syndrome
Kyphosis, Hyperlordosis, Joint hypermobility, Scoliosis, Abnormal digit morphology, Abnormal cort... OMIM:300831
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Cranio-Osteoarthropathy
Joint stiffness, Deviation of finger, Osteoarthritis, Eczema, Abnormality of tibia morphology, Cl... ORPHA:1525
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Proteus Syndrome
Splenomegaly, Mandibular hyperostosis, Facial hyperostosis, Thin bony cortex, Spinal canal stenos... OMIM:176920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Autoimmune thrombocytopenia, Decreased CD4:C... OMIM:300853
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus, Pancrea... ORPHA:79084
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Metatropic Dysplasia
Flared humeral metaphysis, Abnormal metaphyseal vascular invasion, Flared femoral metaphysis, Con... OMIM:156530
Chilblain Lupus
Rheumatoid factor positive, Chronic myelomonocytic leukemia, Antiphospholipid antibody positivity... ORPHA:90280
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Eczema, Defective T cell proliferation, Decreased proportio... OMIM:614493
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Broad metacarpals, Osteolysis involving ta... OMIM:277950
Immunodeficiency, Common Variable, 2
Autoimmunity, Recurrent otitis media, Recurrent pneumonia, Decreased circulating IgG level, Splen... OMIM:240500
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thoracic kyphosis, Short 5th metacarpal, Rhizomelia, Short 4th metacarpal, Platyspondyly, Thin bo... OMIM:619638
Mahvash Disease
Pancreatic alpha-cell hyperplasia, Type II diabetes mellitus, Recurrent pancreatitis, Increased g... OMIM:619290
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Upper limb undergrowth, Pathologic fracture, Abnormal cortical bone morphology,... ORPHA:166277
Immunodeficiency 25
Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Increased circulating IgG level, Antimitoch... OMIM:610163
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Crohn's disease, Acute pancreatitis, Rheumatoid factor positive, Hepatosplen... OMIM:618935
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Abnormal trabecular bone morphology, Upper limb undergrowth, Hypoplasia o... ORPHA:75508
Spondylometaphyseal Dysplasia, Kozlowski Type
Genu varum, Abnormality of the vertebral column, Abnormal ilium morphology, Coronal cleft vertebr... ORPHA:93314
Familial Expansile Osteolysis
Bowing of the long bones, Osteolysis, Thin bony cortex, Pathologic fracture OMIM:174810
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Proximal femoral metaphyseal irregularity, Hip dysplasia, Bowing of the legs, Widened... ORPHA:174
Lethal Congenital Contracture Syndrome Type 1
Abnormal hip bone morphology, Short neck, Recurrent fractures, Abnormal form of the vertebral bod... ORPHA:1486
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Anemia of ... OMIM:617780
Gorham-Stout Disease
Cortical irregularity, Abnormal pelvis bone morphology, Osteopenia, Abnormality of the cervical s... ORPHA:73
Pseudoachondroplasia
Genu varum, Flared femoral metaphysis, Scoliosis, Irregular carpal bones, Metaphyseal widening, F... OMIM:177170
Complement Component C1R/C1S Deficiency
Autoimmunity, Nephritis, Discoid lupus rash, Arthritis OMIM:216950
Immunodeficiency 31C
Autoimmunity, Hypothyroidism, Autoimmune hemolytic anemia, Eczema, Diabetes mellitus, Lymphopenia... OMIM:614162
Eosinophilopenia
Autoimmunity, Allergic rhinitis, Decreased eosinophil count OMIM:131430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmunity, Eosinophilia, Decreased circulating IgG level, Hepatosplenomegaly, Lymphadenitis, D... ORPHA:331206
Grant Syndrome
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Decreased skull ossificat... ORPHA:2097
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Recurrent otitis media, Decreased proportion of memory B cells, Hepatosplenomegaly,... OMIM:615559
Caffey Disease
Bowing of the legs, Cortical irregularity, Tibial bowing, Periosteal thickening of long tubular b... OMIM:114000
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmunity, Sinusitis, Sclerosing cholangitis, T lymphocytopenia, Abnormal CD4:CD... ORPHA:572
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... OMIM:600081
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender long bones with narrow diaphyses, Osteopenia, Dense metaphyseal bands ORPHA:50811
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Acromesomelic Dysplasia, Maroteaux Type
Brachydactyly, Acromesomelia, Bowing of the long bones, Joint stiffness, Kyphosis, Ovoid vertebra... ORPHA:40
Parastremmatic Dwarfism
Short neck, Flexion contracture, Kyphosis, Scoliosis, Genu valgum OMIM:168400
Melnick-Needles Syndrome
Bowing of the long bones, Coxa valga, Cone-shaped epiphyses of the phalanges of the hand, Craniof... ORPHA:2484
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Pachydermoperiostosis
Genu varum, Abnormality of epiphysis morphology, Arthritis, Osteoporosis, Splenomegaly, Acne, Ost... ORPHA:2796
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Reduced n... ORPHA:540
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Antinuclear antibody positivity, Increased circulating antibody level, Syst... OMIM:178610
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Hash... ORPHA:275
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Scoliosis, Decreased cervical spine mobility, Arthralgia of t... ORPHA:93284
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Autoimmunity, Hypothyroidism, Hepatosplenomegaly, Autoimmune h... OMIM:615952
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Hypophosphatemic Rickets, X-Linked Recessive
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... OMIM:300554
Immunodeficiency 36
Autoimmunity, Splenomegaly, Decreased circulating antibody level, Bronchiectasis, Chronic lymphat... OMIM:616005
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intermediate Osteopetrosis
Hepatosplenomegaly, Recurrent fractures, Sandwich appearance of vertebral bodies, Erlenmeyer flas... ORPHA:210110
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmunity, T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomeg... ORPHA:231154
Endosteal Hyperostosis, Autosomal Dominant
Clavicular sclerosis, Abnormality of pelvic girdle bone morphology, Metacarpal diaphyseal endoste... OMIM:144750
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... OMIM:241530
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Desbuquois Dysplasia 1
Genu varum, Broad first metatarsal, Sandal gap, Broad femoral neck, Osteoporosis, Scoliosis, Shor... OMIM:251450
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Rheumatoid factor positive, Decreased eosinophi... OMIM:619632
Spondylometaphyseal Dysplasia, X-Linked
Kyphosis, Tapered finger, Thoracolumbar scoliosis, Sclerosis of skull base, Platyspondyly, Knee f... OMIM:313420
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Premature osteoarthritis, Osteopenia, Kyphosis, Joint laxity, Increased susceptibility to fractur... OMIM:130060
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Genu varum, Decreased hip abduction, Short femoral neck, Flared iliac wing, Flared humeral metaph... OMIM:183849
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... OMIM:264700
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Lymphocytosis, Insulin resistance ORPHA:79087
Progressive Pseudorheumatoid Dysplasia
Genu varum, Flattened epiphysis, Enlargement of the proximal femoral epiphysis, Joint stiffness, ... OMIM:208230
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Generalized joint laxity, Scoliosis, Fragmented epiphyses, Genu valgum, Hip dislocati... ORPHA:93360
Hereditary Chronic Pancreatitis
Leukocytosis, Recurrent pancreatitis, Jaundice, Pancreatic calcification, Diabetes mellitus ORPHA:676
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Bone marrow hypocellularity, Abnormality of thyroid physiology, Abnormal proportion... ORPHA:1830
Subcorneal Pustular Dermatosis
Autoimmunity, Hypothyroidism, Hyperthyroidism, Systemic lupus erythematosus, Rheumatoid arthritis... ORPHA:48377
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Brachydactyly, Kyphosis, Delayed ossification of carpal bones OMIM:618392
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Generalized osteoporosis, Recurrent fractures, Vertebral compression fr... OMIM:617952
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephri... OMIM:152700
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level, Abnormal liver sonography, Autoimmune antibody positi... ORPHA:90003
Spondylocostal Dysostosis 3, Autosomal Recessive
Slender finger, Kyphosis, Hypoplasia of the odontoid process, Supernumerary vertebral ossificatio... OMIM:609813
Florid Cemento-Osseous Dysplasia
Abnormal bone structure, Mandibular osteomyelitis, Multiple bony cystic lesions, Abnormal trabecu... ORPHA:83451
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent pneumonia, Leukocytos... OMIM:619281
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Perinuclear antineutrophil antibody positivity, Crohn's d... OMIM:618394
Immunodeficiency 7
Autoimmunity, Hypereosinophilia OMIM:615387
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Coxa valga, Broad femoral neck, Thin bony cortex, Ove... ORPHA:85184
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Leukopenia, Autoimmune hemolytic ane... OMIM:613011
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Hepatic steatosis, Hypoglycemia, Pancreatitis OMIM:619386
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender long bones with narrow diaphyses, Osteopenia, Short femoral neck, Metaphyseal striations,... OMIM:608154
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Scoliosis, Kyphosis OMIM:617087
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Biliary cirrhosis, Sclerosing cholangitis, Biliary tract obstruction, Cholangitis... ORPHA:69663
Vitamin D-Dependent Rickets, Type 2A
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... OMIM:277440
Mitochondrial Complex I Deficiency, Nuclear Type 11
Scoliosis, Kyphosis, Osteoporosis OMIM:618234
Urban-Rogers-Meyer Syndrome
Brachydactyly, Toe syndactyly, Short neck, Recurrent fractures, Abnormality of epiphysis morpholo... ORPHA:3409
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hyperglycemia, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Autosomal Recessive Hypophosphatemic Rickets
Pseudo-fractures, Genu varum, Craniosynostosis, Increased bone mineral density, Abnormal trabecul... ORPHA:289176
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Metaphyseal Chondrodysplasia, Schmid Type
Genu varum, Metaphyseal sclerosis, Broad femoral neck, Distal tibial bowing, Scoliosis, Metaphyse... OMIM:156500
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Clinodactyly of the 5th finger, Short thumb, Camptodactyly, Overlapping toe OMIM:618453
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Bruck Syndrome 1
Kyphosis, Joint laxity, Vertebral wedging, Increased susceptibility to fractures, Osteoporosis, A... OMIM:259450
Diastrophic Dysplasia
Bowing of the long bones, Symphalangism affecting the phalanges of the hand, Joint stiffness, Inc... ORPHA:628
Dent Disease 1
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... OMIM:300009
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Metaphyseal irregularity, Atlantoaxial instability, Kyphosis, Sh... OMIM:607326
Alpha-Mannosidosis
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Kyphosis, Craniofacial hyperosto... ORPHA:61
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Abnormal t... OMIM:612301
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Triokinase And Fmn Cyclase Deficiency Syndrome
Microcytic anemia, Hepatic steatosis, Hepatomegaly, Pancreatitis OMIM:618805
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Kyphosis OMIM:611225
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, T lymphocytopenia, Hepatosplenomegaly, Part... ORPHA:35078
Osteopetrosis, Autosomal Dominant 1
Abnormality of the vertebral column, Abnormality of pelvic girdle bone morphology, Thickened cort... OMIM:607634
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, T lymphocytopenia, Pneumonia, Absent natural killer cells, Abnormality of... OMIM:600802
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Osteoporosis, Platyspondyly ORPHA:2786
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Hall-Riggs Mental Retardation Syndrome
Brachydactyly, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Metaphyseal dysplasia, Irregular... OMIM:234250
Shashi-Pena Syndrome
Scoliosis, Kyphosis, Osteoporosis OMIM:617190
Unclassified Myelodysplastic Syndrome
Autoimmunity, Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Sweet Syndrome
Increased circulating interleukin 6 concentration, Sterile abscess, Abnormal circulating interleu... ORPHA:3243
Chylous Ascites
Pancreatitis ORPHA:1160
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased circulating IgG level, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
Fibrous Dysplasia Of Bone
Bowing of the long bones, Cortical irregularity, Abnormality of the ulna, Abnormal pelvis bone mo... ORPHA:249
Dyggve-Melchior-Clausen Disease
Genu varum, Clinodactyly of the 5th finger, Rhizomelic arm shortening, Hypoplastic iliac wing, Sc... OMIM:223800
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Insulin-resistant diabetes mel... ORPHA:79083
Isolated Agammaglobulinemia
Autoimmunity, Sinusitis, Abnormal lymphocyte morphology, Pneumonia, Inflammatory abnormality of t... ORPHA:229717
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Maculopapular exanthema, Thrombocytopenia, Increased circulating ... ORPHA:319218
Spondyloepiphyseal Dysplasia Congenita
Osteoporosis, Scoliosis, Genu valgum, Aplasia/hypoplasia involving bones of the extremities, Shor... ORPHA:94068
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Jaundice, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carc... ORPHA:65682
Van Buchem Disease
Thickened cortex of long bones, Cranial hyperostosis, Increased bone mineral density OMIM:239100
Frank-Ter Haar Syndrome
Brachydactyly, Joint stiffness, Kyphosis, Clinodactyly of the 5th finger, Beaking of vertebral bo... ORPHA:137834
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Sparse bone trabeculae, Tibial bowing, Increased susceptibility to fractures, Osteoma... ORPHA:289157
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Increased circulating IgG4 level, Increased inflammatory respons... ORPHA:449400
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Brachydactyly, Micromelia, Limb undergrowth, Massively thickened long bone cortices, Kyphoscoliosis OMIM:122900
Propionic Acidemia
Pancytopenia, Hypoglycemia, Hepatomegaly, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytop... OMIM:606054
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Increased ci... OMIM:308240
Immunodeficiency 22
Autoimmunity, Panniculitis, Decreased proportion of CD4-positive helper T cells OMIM:615758
Spondylometaphyseal Dysplasia, Kozlowski Type
Carpal bone hypoplasia, Halberd-shaped pelvis, Delayed ossification of carpal bones, Irregular ca... OMIM:184252
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Selective Igm Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rheumatoid art... ORPHA:331235
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Brachydactyly, Eosinophilia, Delayed ossification of carpal bones, Coxa valga, Cervical instabili... OMIM:617425
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Distal arthrogryposis, Osteopenia, Kyphosis, Tibial deviation of... OMIM:609128
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Type I diabetes mellitus, Coombs-positive hemolytic anemia, Autoimm... OMIM:304790
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiectasis, Eczema... OMIM:242700
Myasthenic Syndrome, Congenital, 25, Presynaptic
Kyphosis, Flexion contracture, Joint hypermobility, Scoliosis, Spinal rigidity OMIM:618323
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Anti... ORPHA:562639
Microscopic Polyangiitis
Autoimmunity, Sinusitis, Uveitis, Arthritis, Peritonitis, Increased inflammatory response, Episcl... ORPHA:727
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Elbow flexion contracture, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip cont... OMIM:600175
Legionnaires Disease
Bone marrow hypocellularity, Infectious encephalitis, Endocarditis, Myocarditis, Splenomegaly, Ja... ORPHA:549
Autoimmune Polyendocrinopathy Type 3
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Iridocy... ORPHA:227982
Insulin-Resistance Syndrome Type B
Glycosuria, Autoimmunity, Biliary cirrhosis, Postprandial hyperglycemia, Thrombocytopenia, Abnorm... ORPHA:2298
Autoimmune Polyendocrinopathy Type 4
Autoimmunity, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Type I diabetes me... ORPHA:227990
Acquired Generalized Lipodystrophy
Autoimmunity, Acute pancreatitis, Hepatic steatosis, Insulin resistance, Hyperinsulinemia, Hepato... ORPHA:79086
Primary Sclerosing Cholangitis
Autoimmunity, Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ulcerat... ORPHA:171
Igg4-Related Kidney Disease
Rheumatoid factor positive, Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormal... ORPHA:449395
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Hypoplastic iliac wing, Short distal phalanx of finger, Scoliosis, Hip d... ORPHA:1858
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent otitis media, Recurre... OMIM:613502
Duchenne And Becker Muscular Dystrophy
Slender long bone, Joint stiffness, Hyperlordosis, Scoliosis, Reduced bone mineral density ORPHA:262
Familial Osteodysplasia, Anderson Type
Kyphosis, Recurrent fractures, Abnormal form of the vertebral bodies, Clinodactyly of the 5th fin... ORPHA:2769
Osteogenesis Imperfecta, Type Ix
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Multiple prenatal fractures, Pla... OMIM:259440
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Joint hypermobility, Scoliosis, Otitis media OMIM:618050
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Tubulointerstitial nephritis, Hepatomegaly, Pancreatitis, Thrombocytopenia OMIM:251000
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes mellitus, Pancreatitis ORPHA:2348
Cholestasis, Benign Recurrent Intrahepatic, 1
Intrahepatic cholestasis with episodic jaundice, Intermittent jaundice, Hepatomegaly, Pancreatitis OMIM:243300
Stüve-Wiedemann Syndrome
Bowing of the long bones, Abnormal cortical bone morphology, Flexion contracture, Osteopenia, Rec... ORPHA:3206
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Pneumonia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Abn... OMIM:613179
Bruck Syndrome
Bowing of the long bones, Joint stiffness, Recurrent fractures, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Thymic Aplasia
Autoimmunity, Hypothyroidism, Sinusitis, Pneumonia, T lymphocytopenia, Coombs-positive hemolytic ... ORPHA:83471
Gallbladder Disease 1
Cholelithiasis, Cholangitis, Cholecystitis, Cholesterol gallstones, Jaundice, Pancreatitis, Hepat... OMIM:600803
Pelger-Huet Anomaly
Recurrent otitis media, Short 5th metacarpal, Kyphosis, Short 4th metacarpal, Upper limb undergro... OMIM:169400
Borjeson-Forssman-Lehmann Syndrome
Scheuermann-like vertebral changes, Shortening of all distal phalanges of the fingers, Widely spa... OMIM:301900
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Flexion contracture, Kyphosis, Overlapping fingers, Congenital hip dislocation, Scoliosis, Hand c... OMIM:618291
Thymoma
Autoimmunity, Myositis, Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiolo... ORPHA:99867
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis, Small hand, Talipes equinovarus, Short foot, Hip dislocation OMIM:300434
Rothmund-Thomson Syndrome
Hypoplasia of the ulna, Osteopenia, Abnormal trabecular bone morphology, Leukemia, Increased susc... ORPHA:2909
Primary Lipodystrophy
Hepatic steatosis, Insulin resistance, Splenomegaly, Type II diabetes mellitus, Pancreatitis, Cir... ORPHA:90970
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Recurrent ... OMIM:619752
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Diabetes mellitus, Pancreatitis, Pan... OMIM:167800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Abnormal ilium morphology, Decreased proportion of CD4-positive ... ORPHA:508533
Gaucher Disease Type 1
Pancytopenia, Osteopenia, Increased bone mineral density, Leukopenia, Kyphosis, Vertebral compres... ORPHA:77259
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Kyphosis, Abnormality of the cervical spine, Osteoporosis, Scoliosis, Camptodactyly of finger ORPHA:48431
Type 1 Diabetes Mellitus
Autoimmunity, Hyperglycemia, Diabetes mellitus OMIM:222100
Pancreatitis, Sclerosing Cholangitis, And Sicca Complex
Sclerosing cholangitis, Angular cheilitis, Hepatomegaly, Jaundice, Keratoconjunctivitis sicca, Pa... OMIM:260480
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Short neck, Kyphosis, Flexion contracture, Hyperlordosis, Scoliosis, Spinal rigidity OMIM:300718
X-Linked Lymphoproliferative Disease
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Absent natural killer cells, Histioc... ORPHA:2442
Lenz-Majewski Hyperostotic Dwarfism
Brachydactyly, Cranial hyperostosis, Symphalangism affecting the phalanges of the hand, Finger sy... ORPHA:2658
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal hip bone morphology, Clinodactyly of the 5th finger, Cone-shaped epiphysis, Thoracic pla... ORPHA:457395
Bethlem Myopathy 2
Flexion contracture, Kyphosis, Distal joint laxity, Scoliosis, Hip dislocation OMIM:616471
Tropical Pancreatitis
Jaundice, Pancreatic calcification, Abnormal pancreatic duct morphology, Pancreatic adenocarcinom... ORPHA:103918
Osteogenesis Imperfecta
Fractures of the long bones, Abnormal hip bone morphology, Cervical kyphosis, Osteoporosis, Decre... ORPHA:666
Frank-Ter Haar Syndrome
Bilateral talipes equinovarus, Bowing of the long bones, Cortical irregularity, Osteopenia, Short... OMIM:249420
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, Endocarditis, Myo... ORPHA:31205
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Brachydactyly, Recurrent otitis media, Pneumonia, Periodontitis... OMIM:266265
X-Linked Agammaglobulinemia
Autoimmunity, Recurrent pneumonia, Sinusitis, Arthritis, Agammaglobulinemia, Thrombocytopenia, Ne... ORPHA:47
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Hypothyroidism, Autoimmune hemolytic anemia, Insulin receptor antibody positivity, ... ORPHA:37042
Spondyloperipheral Dysplasia
Short thumb, Short distal phalanx of the 5th finger, Short toe, Brachydactyly, Flat capital femor... OMIM:271700
Bullous Pemphigoid
Eczema, Autoimmunity, Psoriasiform dermatitis, Diabetes mellitus ORPHA:703
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Autoimmunity, Recurrent otitis media, Viral hepatitis, Decreased circulating IgG level, Cholangit... ORPHA:183675
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Kyphosis, Recurrent fractures, Severe generalized osteoporosis,... OMIM:259420
Oculodentodigital Dysplasia
Brachydactyly, Clinodactyly, Toe syndactyly, Cranial hyperostosis, Finger syndactyly, Abnormal fo... ORPHA:2710
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Short neck, Kyphosis, Abnormality of epiphysis morphology, Abnormal form of the ve... ORPHA:3098
X-Linked Intellectual Disability, Stocco Dos Santos Type
Talipes equinovarus, Kyphosis, Congenital bilateral hip dislocation ORPHA:85288
Mucopolysaccharidosis, Type Iva
Coxa valga, Ovoid vertebral bodies, Kyphosis, Joint laxity, Cervical subluxation, Hypoplasia of t... OMIM:253000
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteopenia, Periostitis, Neutrophilia, Splenomegaly, Osteomyelitis, Osteolysis, Fused cervical ve... OMIM:612852
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Hypothyroidism, Iridocyclitis, Type II diabetes mellitus, Pancreatitis, Type I diabetes mellitus ORPHA:412057
Mucopolysaccharidosis, Type Ivb
Coxa valga, Ovoid vertebral bodies, Kyphosis, Joint laxity, Cervical subluxation, Hypoplasia of t... OMIM:253010
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Hypothyroidism, Hypersplenism, Portal hypertension, Hepatosplenomegal... ORPHA:228426
Fetal Akinesia Deformation Sequence 4
Short neck, Flexion contracture, Kyphosis, Rocker bottom foot, Arthrogryposis multiplex congenita... OMIM:618393
Rothmund-Thomson Syndrome Type 2
Genu varum, Finger symphalangism, Osteopenia, Metaphyseal sclerosis, Patellar hypoplasia, Abnorma... ORPHA:221016
Felty Syndrome
Abnormal lymphocyte morphology, Recurrent pneumonia, Sinusitis, Bone marrow hypocellularity, Arth... ORPHA:47612
Hypophosphatemic Rickets, X-Linked Dominant
Bowing of the legs, Metaphyseal irregularity, Abnormality of pelvic girdle bone morphology, Trape... OMIM:307800
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped metacarpal epiphyses, Delayed ossification of carpal bones, Prominent styloid process... OMIM:300106
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Insulin-resistant diabetes mellitus, Pancreatitis ORPHA:435651
Rothmund-Thomson Syndrome Type 1
Genu varum, Finger symphalangism, Osteopenia, Metaphyseal sclerosis, Patellar hypoplasia, Abnorma... ORPHA:221008
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Flat capital femoral epiphysis, Decreased circulating IgG level, Genu varum, Metaphyseal irregula... OMIM:271510
Sialidosis Type 2
Flexion contracture, Kyphosis, Osteoporosis, Splenomegaly ORPHA:87876
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Cholangitis, Orchitis, Increased circulating IgG4 level, Prostatitis, Re... ORPHA:449563
Adult Acute Respiratory Distress Syndrome
Diabetic ketoacidosis, Pneumonia, Pancreatitis ORPHA:70578
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis, Talipes equinovarus, Hip dislocation OMIM:616756
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short neck, Recurrent fractures, Vertebral compression fracture, Osteoporosis, Long hallux, Thin ... OMIM:309583
Cach Syndrome
Optic neuritis, Hepatosplenomegaly, Pancreatitis ORPHA:135
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Clinodactyly, Flexion contracture, Kyphosis, Tripha... OMIM:618658
Citrullinemia, Type Ii, Adult-Onset
Hepatic steatosis, Portal inflammation, Pancreatitis, Hepatocellular carcinoma, Ballooning hepato... OMIM:603471
Spondyloepimetaphyseal Dysplasia, Missouri Type
Genu varum, Flattened epiphysis, Flared iliac wing, Rhizomelia, Tibial bowing, Osteoarthritis, Pe... OMIM:602111
Mucopolysaccharidosis Type 4
Bowing of the long bones, Coxa valga, Short neck, Abnormality of epiphysis morphology, Kyphosis, ... ORPHA:582
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Short neck, Hip osteoarthritis, Short femoral neck, Kyphosis, Platyspondyly,... OMIM:313400
Geroderma Osteodysplasticum
Osteopenia, Recurrent fractures, Vertebral compression fracture, Tibial bowing, Periodontitis, Os... OMIM:231070
Osteogenesis Imperfecta, Type Viii
Decreased calvarial ossification, Osteopenia, Recurrent fractures, Multiple prenatal fractures, K... OMIM:610915
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Increased circulating anti... OMIM:202700
Stuve-Wiedemann Syndrome 1
Osteoporosis, Scoliosis, Short tibia, Bowing of the long bones, Short neck, Metaphyseal rarefacti... OMIM:601559
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Metaphyseal sclerosis, Rheumatoid arthritis, Scoliosis, Metaphyseal widen... OMIM:607944
Osteosclerosis With Ichthyosis And Fractures
Recurrent fractures, Increased bone mineral density, Tibial bowing, Cortical thickening of long b... OMIM:166740
Psoriasis-Related Juvenile Idiopathic Arthritis
Toe dactylitis, Generalized morning stiffness, Uveitis, Iritis, Abnormality of tumor necrosis fac... ORPHA:85436
Microcephalic Primordial Dwarfism, Montreal Type
Reduced bone mineral density, Vertebral segmentation defect, Scoliosis, Kyphosis ORPHA:2617
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Cutaneous abscess, Autoimmune antibody posit... ORPHA:555905
Seckel Syndrome 10
Glycosuria, Acute pancreatitis, Hepatic steatosis, Insulin resistance, Elevated circulating lutei... OMIM:617253
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, T lymphocytopenia, Recurrent otitis media, Partial... OMIM:618986
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Pneumonia, Increased circulating IgA level, Absent mi... OMIM:600903
Congenital Arthrogryposis With Anterior Horn Cell Disease
Short neck, Kyphosis, Rocker bottom foot, Scoliosis, Hand clenching, Arthrogryposis multiplex con... OMIM:611890
Systemic Capillary Leak Syndrome
Leukocytosis, Myocarditis, Pericarditis, Pancreatitis ORPHA:188
Microsporidiosis
Cholangitis, Prostatitis, Decreased proportion of CD4-positive helper T cells, Hepatitis, Pancrea... ORPHA:2552
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Agammaglobulinemia, Infectious encephalitis, Colitis, Neutropenia, ... OMIM:209920
Congenital Muscular Dystrophy, Ullrich Type
Slender finger, Increased laxity of fingers, Flexion contracture, Short neck, Long toe, Kyphosis,... ORPHA:75840
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Gamma-Heavy Chain Disease
Autoimmunity, Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocyto... ORPHA:100026
Tropical Calcific Pancreatitis
Pancreatic calcification, Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabe... OMIM:608189
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Anterior atlanto-occipital dislocation, Tracheomalacia, Osteoporosis, Scoliosis, Hallux valgus, M... ORPHA:536467
Weill-Marchesani Syndrome 1
Brachydactyly, Joint stiffness, Thin bony cortex, Broad metacarpals, Scoliosis, Spinal canal sten... OMIM:277600
Sandhoff Disease
Kyphosis, Splenomegaly ORPHA:796
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Nephritis, P... ORPHA:449427
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
Ruvalcaba Syndrome
Kyphosis, Short palm, Short metacarpal, Short phalanx of finger, Limited elbow extension, Microme... OMIM:180870
Spondyloepiphyseal Dysplasia Congenita
Flattened epiphysis, Limitation of knee mobility, Atlantoaxial instability, Short neck, Ovoid ver... OMIM:183900
Widow'S Peak Syndrome
Narrow iliac wing, Kyphosis, Hip osteoarthritis, Arthralgia/arthritis, Arthralgia of the hip, Hig... OMIM:314570
Bone Marrow Failure Syndrome 6
Osteopenia, Bone marrow hypocellularity, Neutropenia, Anemia, Recurrent sinusitis, Increased mean... OMIM:618849
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Tapered finger, Large hands, Kyphosis ORPHA:276630
Wiskott-Aldrich Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Decreased circulating total IgM, Incre... OMIM:301000
Myopathic Ehlers-Danlos Syndrome
Flexion contracture, Contractures involving the joints of the feet, Multiple joint contractures, ... ORPHA:536516
Masa Syndrome
Adducted thumb, Talipes equinovarus, Hyperlordosis, Kyphosis OMIM:303350
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Spondylodysplastic Ehlers-Danlos Syndrome
Generalized osteoporosis, Coronal cleft vertebrae, Abnormality of finger, Generalized joint laxit... ORPHA:536471
Dysostosis, Stanescu Type
Bowing of the long bones, Brachydactyly, Short neck, Increased bone mineral density, Abnormality ... ORPHA:1798
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Hemophagocytosis, Splenomegaly, Anemia, Panniculitis OMIM:618398
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Leukocytosis, Agammaglobulinemia, Interface hepatitis, Thrombocytosis, Autoimmune h... OMIM:243150
Fountain Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Large ... ORPHA:3219
Disorder Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Spina bifida occulta, Reduced bone mineral density, Genu valgum ORPHA:2983
Coccidioidomycosis
Eosinophilia, Abnormality of the liver, Pneumonia, Erythema nodosum, Increased circulating IgG le... ORPHA:228123
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis, Osteoporosis, Recurrent fractures ORPHA:85193
Camurati-Engelmann Disease
Abnormality of the vertebral column, Abnormality of the ulna, Craniofacial osteosclerosis, Anemia... ORPHA:1328
Omenn Syndrome
Autoimmunity, Hypothyroidism, Abnormal lymphocyte morphology, Pneumonia, Eosinophilia, Leukocytos... ORPHA:39041
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Hyperinsulinemia, Decreased proportion of CD4-positive helper T cell... ORPHA:66628
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating total IgM, Kyphosis, Decreased circulating... OMIM:300861
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Decreased circulating antibody level ORPHA:85317
Caroli Syndrome
Portal hypertension, Leukopenia, Leukocytosis, Cholangitis, Cholangiocarcinoma, Pancreatitis, Hep... ORPHA:480520
Heart Defects-Limb Shortening Syndrome
Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormality of the metaphysis, Abnormal form of t... ORPHA:1354
Igg4-Related Thyroid Disease
Autoimmunity, Hypothyroidism, Thyrotoxicosis with diffuse goiter, Sclerosing cholangitis, Hashimo... ORPHA:64744
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Splenomegaly, Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Juvenile rhe... ORPHA:85414
Aspartylglucosaminuria
Abnormality of the ulna, Joint stiffness, Arthritis, Anterior beaking of lumbar vertebrae, Beakin... ORPHA:93
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Slender finger, Kyphosis, Clinodactyly of the 5th finger, Scoliosis, Small hand, Short foot OMIM:618443
Achondroplasia
Brachydactyly, Bowing of the legs, Trident hand, Knee joint hypermobility, Kyphosis, Hip joint hy... ORPHA:15
Dent Disease
Bowing of the legs, Bulging epiphyses, Metaphyseal irregularity, Recurrent fractures, Sparse bone... ORPHA:1652
Purine Nucleoside Phosphorylase Deficiency
Autoimmunity, Decreased proportion of CD3-positive T cells, Autoimmune hemolytic anemia, Autoimmu... ORPHA:760
Flynn-Aird Syndrome
Scoliosis, Kyphosis, Joint stiffness, Bone cyst ORPHA:2047
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Hyperinsulinemia, Decreased proportion of CD4-positive helper T cell... ORPHA:179494
Weill-Marchesani Syndrome 2
Brachydactyly, Joint stiffness, Short metacarpal, Thin bony cortex, Broad metacarpals, Scoliosis,... OMIM:608328
Idiopathic Chronic Eosinophilic Pneumonia
Autoimmunity, Hypereosinophilia, Leukocytosis, Atopic dermatitis, Increased circulating IgE level ORPHA:2902
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Recurrent pancreatitis OMIM:145001
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platys... OMIM:230650
Mucopolysaccharidosis Type 6
Sinusitis, Joint stiffness, Short neck, Ovoid vertebral bodies, Kyphosis, Splenomegaly, Abnormali... ORPHA:583
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hepatic steatosis, Hepatosplenomegaly, Recurrent pancreatitis, Jaundice, Diab... ORPHA:444490
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Slender long bone, Abnormal form of the vertebral bodies, Generalized bone demineralization, Recu... ORPHA:73230
Campomelic Dysplasia
Bowing of the long bones, Hypoplastic inferior ilia, Short neck, Recurrent fractures, Tracheomala... ORPHA:140
Ataxia-Telangiectasia
Sinusitis, T lymphocytopenia, Decreased circulating IgG level, Leukemia, Defective B cell differe... OMIM:208900
Osteogenesis Imperfecta, Type Iv
Kyphosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fractur... OMIM:166220
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Joint contracture of the hand, Joint contracture of the 5th finger, Eczema, Scoliosis, ... ORPHA:352490
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmunity, Autoimmune hemolytic anemia, Systemic lupus erythematosus, Skin rash ORPHA:90036
Lysinuric Protein Intolerance
Hepatosplenomegaly, Leukopenia, Hemophagocytosis, Glomerulonephritis, Tubulointerstitial nephriti... ORPHA:470
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Joint stiffness, Short neck, Kyphosis, Flared iliac wing, Hyperlo... OMIM:252605
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Gm1 Gangliosidosis
Joint stiffness, Hepatosplenomegaly, Abnormality of epiphysis morphology, Abnormal form of the ve... ORPHA:354
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Arachnodactyly, Joint laxity, Glomerulonephritis, Kyphosis OMIM:248760
Sponastrime Dysplasia
Abnormality of the vertebral column, Generalized joint laxity, Scoliosis, Metaphyseal widening, G... ORPHA:93357
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Arachnodactyly, Scoliosis, Kyphosis, Joint stiffness ORPHA:1548
Pycnodysostosis
Brachydactyly, Hepatosplenomegaly, Increased bone mineral density, Coronal craniosynostosis, Kyph... ORPHA:763
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypothyroidism, Hepatic steatosis, Hypoglycemia, Hypoglycemic seizures, Chronic neutropenia, Peri... ORPHA:79259
Hurler Syndrome
Cranial hyperostosis, Recurrent otitis media, Flexion contracture, Joint stiffness, Hypoplasia of... OMIM:607014
Hyperlipoproteinemia, Type Id
Recurrent pancreatitis, Colitis, Splenomegaly, Hepatomegaly, Pancreatitis OMIM:615947
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Flexion contracture, Joint stiffness, Short neck, Kyphosis, Anterior beak... OMIM:253220
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Broad proximal phalanges of the hand, Hallux valgus ORPHA:505652
Pemphigus Erythematosus
Autoimmunity, Systemic lupus erythematosus, Malar rash, Anti-acetylcholine receptor antibody posi... ORPHA:79480
Mccune-Albright Syndrome
Pancytopenia, Bone marrow hypocellularity, Cholestasis, Hyperthyroidism, Elevated circulating gro... ORPHA:562
Glycogen Storage Disease Ib
Hypoglycemia, Hepatomegaly, Neutropenia, Pancreatitis, Hepatocellular carcinoma, Gout OMIM:232220
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Aicardi-Goutieres Syndrome 9
Hypothyroidism, Hepatic steatosis, Portal hypertension, Acute pancreatitis, Hepatosplenomegaly, C... OMIM:619487
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Pancreatitis ORPHA:431361
Pauci-Immune Glomerulonephritis
Scleritis, Glomerulonephritis, Tubulointerstitial nephritis, Arteritis, Crescentic glomerulonephr... ORPHA:93126
Hypomelanosis Of Ito
Clinodactyly, Kyphosis, Hand polydactyly, Scoliosis, Radial deviation of finger, Syndactyly OMIM:300337
Autoimmune Hemolytic Anemia, Warm Type
Autoimmunity, Autoimmune hemolytic anemia, Splenomegaly, Systemic lupus erythematosus, Jaundice, ... ORPHA:90033
Faciocardiomelic Syndrome
Osteopenia, Polydactyly, Thin bony cortex, Cuboid-shaped vertebral bodies, Hypoplastic pelvis, Sl... OMIM:612731
Zygomycosis
Sinusitis, Gastritis, Infectious encephalitis, Colitis, Endocarditis, Myocarditis, Peritonitis, S... ORPHA:73263
O'Donnell-Luria-Rodan Syndrome
Tapered finger, Kyphosis OMIM:618512
Marburg Hemorrhagic Fever
Abnormal lymphocyte morphology, Hypoglycemia, Uveitis, Leukopenia, Arthritis, Orchitis, Maculopap... ORPHA:99826
Triglyceride Deposit Cardiomyovasculopathy
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Diabetes mellitus, Inflammatory abnormality o... ORPHA:565612
Craniotubular Dysplasia, Ikegawa Type
Short palm, Broad femoral neck, Broad ischia, Sclerosis of skull base, Platyspondyly, Thin bony c... OMIM:619727
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Leukopenia, Leukocytosis, Nonketotic hypoglycemia, Thrombocytosis, Recurrent ... ORPHA:20
Aregenerative Anemia
Pancytopenia, Bone marrow hypocellularity, Abnormality of interleukin secretion, Decreased propor... ORPHA:101096
Sjogren Syndrome
Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis, Keratoconjunctivitis sicca, Xer... OMIM:270150
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:98375
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Insulin resistance, Splenomegaly, Hepatomegaly, Diabetes mellitus, Pancreatitis ORPHA:280365
Sjögren-Larsson Syndrome
Scoliosis, Kyphosis, Joint stiffness, Inflammatory abnormality of the eye ORPHA:816
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Sandal gap, Hyperlordosis, Broad distal phalanx of finger, Scoliosis, Po... OMIM:615761
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shoulder dislocation, Coronal cleft vertebrae, Narrow vertebral interpedicular distance, Scoliosi... OMIM:143095
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Shwachman-Diamond Syndrome
Pancytopenia, Chronic neutropenia, Anemia, Aplastic anemia, Metaphyseal widening, Thrombocytopeni... ORPHA:811
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Scoliosis, Kyphosis ORPHA:2598
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Kyphosis ORPHA:1875
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Cholangitis, Thrombocytosis, Chronic hepatitis, C... ORPHA:3260
Granulomatosis With Polyangiitis
Autoimmunity, Sinusitis, Inflammatory abnormality of the eye, Increased inflammatory response, Pr... ORPHA:900
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Flexion contracture, Kyphosis, Adducted thumb, Scoliosis, Arthrogryposis multiplex congenita, Tal... OMIM:618484
Paget Disease Of Bone 5, Juvenile-Onset
Bowing of the long bones, Osteopenia, Recurrent fractures, Increased bone mineral density, Kyphos... OMIM:239000
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Clinodactyly, Flexion contracture, Short neck, Kyphosis, Scoliosis, Arthrogryposis multiplex cong... ORPHA:178148
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Mody
Exocrine pancreatic insufficiency, Glycosuria, Neonatal hypoglycemia, Pancreatic hypoplasia, Hype... ORPHA:552
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Clinodactyly of the 5th finger, Congenital foot contractures, Scoliosis, Limitation of ... ORPHA:3454
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly, Myocarditis, Generalized l... ORPHA:829
3M Syndrome
Hypoplastic ischia, Hypoplastic pubic bone, Hypoplasia of the ulna, Short neck, Kyphosis, Increas... ORPHA:2616
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Maculopapular exanthema, ... OMIM:619644
Holt-Oram Syndrome
Absent thumb, Joint stiffness, Phocomelia, Finger syndactyly, Kyphosis, Triphalangeal thumb, Down... ORPHA:392
Thanatophoric Dysplasia
Brachydactyly, Abnormal ilium morphology, Joint stiffness, Kyphosis, Platyspondyly, Micromelia, A... ORPHA:2655
Schaaf-Yang Syndrome
Brachydactyly, Clinodactyly, Flexion contracture, Kyphosis, Rocker bottom foot, Tapered finger, S... OMIM:615547
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Metaphyseal widening, Kyphosis, Osteopetrosis, Platyspondyly OMIM:618476
X-Linked Charcot-Marie-Tooth Disease Type 1
Scoliosis, Kyphosis ORPHA:101075
Dysbetalipoproteinemia
Acute pancreatitis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Gout ORPHA:412
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Leukocytosis, Peritonitis, Acute colitis, Pancreatitis, Reticulocytosis, Microang... ORPHA:90038
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Narrow iliac wing, Kyphosis, Osteopenia, Coronal craniosynostosis, P... OMIM:616294
Lopes-Maciel-Rodan Syndrome
Scoliosis, Kyphosis, Short foot, Small hand OMIM:617435
Occipital Horn Syndrome
Osteoporosis, Osteomalacia, Scoliosis, Hepatitis, Esophagitis, Genu valgum, Hip dysplasia, Ricket... ORPHA:198
Uruguay Faciocardiomusculoskeletal Syndrome
Kyphosis, Joint contracture of the hand, Congenital hip dislocation, Scoliosis, Hallux valgus, Ca... OMIM:300280
Immunodeficiency 58
Decreased T cell activation, Recurrent pneumonia, Cutaneous abscess, Colitis, Decreased circulati... OMIM:618131
Stickler Syndrome, Type I
Kyphosis, Beaking of vertebral bodies, Osteoarthritis, Platyspondyly, Arachnodactyly, Irregular f... OMIM:108300
Peripheral Primitive Neuroectodermal Tumor
Anemia, Neoplasm of the pancreas, Jaundice, Pancreatitis ORPHA:370348
Clark-Baraitser syndrome
Kyphosis, Short palm, Joint laxity, Tapered finger, Scoliosis, Genu valgum OMIM:300602
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Hypohidrosis, Cholestasis, Splenomegaly, Hepatomegaly, Impaired T cell function, In... OMIM:614576
Igg4-Related Submandibular Gland Disease
Autoimmunity, Eosinophilia, Increased circulating IgG level, Cholangitis, Increased circulating I... ORPHA:449432
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Epididymitis, Thrombocytopenia, Conjunctivitis, Leukopenia, Neutrophilia, Myocardit... ORPHA:99827
Ruvalcaba Syndrome
Synostosis of carpal bones, Brachydactyly, Kyphosis, Short metacarpal, Clinodactyly of the 5th fi... ORPHA:3121
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Toe syndactyly, Short neck, Metatarsus valgus, Abnormality of epiphysis morphology, Kyphosis, Apl... ORPHA:3082
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Brachydactyly, Joint stiffness, Short greater sciatic notch, Kyphosis, ... ORPHA:1860
4Q21 Microdeletion Syndrome
Toe syndactyly, Short neck, Short palm, Kyphosis, Micromelia, Scoliosis, Small hand, Short foot ORPHA:238750
Megalocornea-Intellectual Disability Syndrome
Genu varum, Osteopenia, Metatarsus valgus, Kyphosis, Tapered finger, Scoliosis, Joint hyperflexib... ORPHA:2479
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Leukocytosis, Myocarditis, Acute colitis, Hemolytic anemia, Diabetes mellitus, Pancrea... ORPHA:544482
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Flexion contracture, Kyphosis, Osteoporosis, Scoliosis OMIM:615381
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Shoulder dislocation, Kyphosis, Arachnodactyly, Adducted thumb, Scoliosis, Joint hyperflexibility ORPHA:2181
Lipodystrophy, Familial Partial, Type 2
Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Hepatomegaly, Insulin-resistant diabetes... OMIM:151660
Citrullinemia Type Ii
Hepatic steatosis, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Hepatic fibrosis ORPHA:247585
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Kyphosis ORPHA:2429
Brachyolmia Type 3
Clinodactyly, Short neck, Kyphosis, Short femoral neck, Proximal femoral metaphyseal irregularity... OMIM:113500
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Hypoglycemia, Hepatic periportal necrosis ORPHA:26791
Atkin-Flaitz Syndrome
Kyphosis, Short palm, Joint laxity, Tapered finger, Scoliosis, Genu valgum OMIM:300431
Jaberi-Elahi Syndrome
Joint stiffness, Kyphosis, Joint hypermobility, Scoliosis, Hand clenching, Talipes equinovarus OMIM:617988
Glycogen Storage Disease Ia
Hypoglycemia, Hepatomegaly, Pancreatitis, Hepatocellular carcinoma, Gout OMIM:232200
Melas
Hypothyroidism, Recurrent pancreatitis, Anemia, Hypoparathyroidism, Diabetes mellitus, Type II di... ORPHA:550
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Increased circulating IgA level, Neutrophilia, S... OMIM:260920
X-Linked Charcot-Marie-Tooth Disease Type 4
Scoliosis, Kyphosis ORPHA:101078
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Hypochromia, Anisocytosis, Impaired T cell function, Py... OMIM:258900
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Classical-Like Ehlers-Danlos Syndrome Type 2
Abnormality of toe, Shoulder dislocation, Thoracic scoliosis, Osteopenia, Kyphosis, Hammertoe, Sa... ORPHA:536532
Spinocerebellar Ataxia, Autosomal Recessive 8
Scoliosis, Kyphosis OMIM:610743
Familial Mediterranean Fever
Erysipelas, Orchitis, Peritonitis, Osteoarthritis, Pancreatitis, Splenomegaly, Pericarditis, Arth... ORPHA:342
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Kyphosis, Short neck, Acne, Scoliosis ORPHA:3191
Spondyloenchondrodysplasia
Pancytopenia, Bowing of the legs, Pneumonia, Kyphosis, Autoimmune hemolytic anemia, Autoimmune th... ORPHA:1855
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal hip bone morphology, Kyphosis, Short neck, Hyperlordosis, Fused cervical vertebrae, Abno... ORPHA:2522
Coffin-Lowry Syndrome
Brachydactyly, Narrow iliac wing, Pseudoepiphyses of the metacarpals, Kyphosis, Abnormal form of ... ORPHA:192
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Scoliosis, Vertebral fusion OMIM:606612
Behçet Disease
Optic neuritis, Myositis, Arthritis, Orchitis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Intellectual Developmental Disorder, Autosomal Dominant 26
Scoliosis, Kyphosis, Arthrogryposis multiplex congenita OMIM:615834
19P13.12 Microdeletion Syndrome
Craniosynostosis, Toe clinodactyly, Finger syndactyly, Short palm, Short neck, Kyphosis, Sandal g... ORPHA:254346
Trisomy 20P
Brachydactyly, Abnormal hip bone morphology, Vertebral segmentation defect, Finger syndactyly, Sh... ORPHA:261318
Myopathy, Centronuclear, 2
Kyphosis, Flexion contracture, Hyperlordosis, Scoliosis, Talipes equinovarus OMIM:255200
Lysinuric Protein Intolerance
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia OMIM:222700
Primary Biliary Cholangitis
Autoimmunity, Biliary cirrhosis, Portal hypertension, Gastrointestinal inflammation, Increased ci... ORPHA:186
Myofibrillar Myopathy 10
Kyphosis, Sandal gap, Ankle flexion contracture, Knee flexion contracture, Flexion contracture of... OMIM:619040
Mulibrey Nanism
Thickened cortex of long bones OMIM:253250
Mend Syndrome
Kyphosis, 2-3 toe syndactyly, Overlapping fingers, Polydactyly, Long fingers, Overlapping toe OMIM:300960
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Mirizzi Syndrome
Cholelithiasis, Cholesterol gallstones, Gallbladder perforation, Jaundice, Abnormality of the duc... ORPHA:521219
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Brachydactyly, Hyperlordosis, Kyphosis, Short toe ORPHA:3085
Mgat2-Cdg
Brachydactyly, Decreased circulating IgG level, Osteopenia, Kyphosis, Impaired platelet aggregati... ORPHA:79329
Hajdu-Cheney Syndrome
Brachydactyly, Bowing of the long bones, Osteopenia, Recurrent fractures, Short neck, Kyphosis, P... ORPHA:955
Thanatophoric Dysplasia Type 2
Brachydactyly, Kyphosis, Platyspondyly, Micromelia, Abnormality of the metaphysis, Joint hyperfle... ORPHA:93274
Typical Nemaline Myopathy
Genu varum, Flexion contracture, Short neck, Kyphosis, Hyperlordosis, Scoliosis, Arthrogryposis m... ORPHA:171436
Pigmented Nodular Adrenocortical Disease, Primary, 2
Osteopenia, Osteoporosis, Kyphosis OMIM:610475
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Brachydactyly, Kyphosis, Joint laxity, Sandal gap, Small hand, Short foot OMIM:300354
Multiple Pterygium Syndrome, Escobar Variant
Anterior clefting of vertebral bodies, Kyphosis, Dislocated radial head, Bilateral camptodactyly,... OMIM:265000
Stevens-Johnson Syndrome
Abnormality of neutrophils, Anemia, Pancreatitis, Thrombocytopenia, Conjunctivitis ORPHA:36426
Cleidocranial Dysplasia
Brachydactyly, Kyphosis, Increased bone mineral density, Short femoral neck, Cone-shaped epiphyse... OMIM:119600
Poland Syndrome
Abnormality of the ulna, Finger symphalangism, Unilateral brachydactyly, Cone-shaped epiphysis, S... ORPHA:2911
Weaver Syndrome
Clinodactyly, Calcaneovalgus deformity, Coxa valga, Kyphosis, Flared humeral metaphysis, Flared f... OMIM:277590
Wieacker-Wolff Syndrome
Short neck, Kyphosis, Hyperlordosis, Congenital foot contractures, Proximal placement of thumb, S... OMIM:314580
Pneumocystosis
Abnormal neutrophil count, Interstitial pneumonitis, Increased circulating antibody level, Chroni... ORPHA:723
Baralle-Macken Syndrome
Tapered finger, Kyphosis OMIM:619255
Autosomal Recessive Spastic Paraplegia Type 53
Joint hyperflexibility, Kyphosis ORPHA:319199
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Pancreatitis, Thrombocytopenia, Conjunctivitis ORPHA:537
Crisponi Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly of finger, Limitation of joint mobility ORPHA:1545
Wieacker-Wolff Syndrome, Female-Restricted
Achilles tendon contracture, Flexion contracture, Short neck, Kyphosis, Rocker bottom foot, Scoli... OMIM:301041
Schwartz-Jampel Syndrome
Abnormally straight spine, Osteoporosis, Protrusio acetabuli, Micromelia, Scoliosis, Arthrogrypos... ORPHA:800
Scapuloperoneal Spinal Muscular Atrophy
Clinodactyly, Kyphosis, Hyperlordosis, Metatarsus adductus, Scoliosis, Small hand, Talipes equino... OMIM:181405
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Decreased T cell activation, Leukocytosis, Increased circulating IgG level, T... OMIM:618213
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Arachnodactyly, Scoliosis, Camptodactyly of finger ORPHA:1883
Alstrom Syndrome
Recurrent pneumonia, Kyphosis, Tubulointerstitial nephritis, Scoliosis, Nephritis, Otitis media, ... OMIM:203800
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Osteoporosis, Kyphosis OMIM:219080
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Talipes cavus equinovarus, Short neck, Prominent protruding coccyx, Kyphosis, Sacral ... OMIM:300966
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Flexion contracture, Osteopenia, Kyphosis, Thrombocytosis, Decre... OMIM:212065
15Q24 Microdeletion Syndrome
Abnormality of toe, Clinodactyly, Abnormal thumb morphology, Brachydactyly, Kyphosis, Joint laxit... ORPHA:94065
Marinesco-Sjogren Syndrome
Coxa valga, Flexion contracture, Kyphosis, Short metacarpal, Scoliosis, Short metatarsal OMIM:248800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Rhizomelia, Platyspondyly, Lumbar hyperlordosis, Otitis media, Mesomelia OMIM:616482
Ullrich Congenital Muscular Dystrophy 1
Increased laxity of fingers, Flexion contracture, Kyphosis, Hyperextensibility at wrists, Joint l... OMIM:254090
Gm1-Gangliosidosis, Type I
Joint stiffness, Short neck, Hypoplastic vertebral bodies, Vacuolated lymphocytes, Kyphosis, Beak... OMIM:230500
Cystic Fibrosis
Exocrine pancreatic insufficiency, Biliary cirrhosis, Recurrent pneumonia, Hepatosplenomegaly, He... OMIM:219700
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Hepatosplenomegaly, Hip dislocation OMIM:608776
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Scoliosis, Kyphosis, Hip dislocation ORPHA:464282
Mcdonough Syndrome
Scoliosis, Kyphosis ORPHA:2471
Familial Hypocalciuric Hypercalcemia
Autoimmunity, Pancreatitis ORPHA:405
Acro-Renal-Mandibular Syndrome
Rudimentary fibula, Butterfly vertebrae, Hypoplasia of the ulna, Finger syndactyly, Short neck, K... ORPHA:958
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:542323
Psoriasis 14, Pustular
Leukocytosis, Cholangitis, Neutrophilia, Oligoarthritis, Psoriasiform dermatitis, Pustule OMIM:614204
Kleefstra Syndrome 2
Scoliosis, Kyphosis OMIM:617768
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Brachydactyly, Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Cli... ORPHA:2916
Prader-Willi Syndrome
Clinodactyly, Osteopenia, Acromicria, Short palm, Kyphosis, Osteoporosis, Scoliosis, Small hand, ... OMIM:176270
Atypical Rett Syndrome
Scoliosis, Kyphosis, Short foot, Small hand ORPHA:3095
X-Linked Charcot-Marie-Tooth Disease Type 5
Scoliosis, Kyphosis ORPHA:99014
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Synostosis of carpal bones, Brachydactyly, Joint stiffness, Finger syndactyly, Kyphosis, Clinodac... ORPHA:1005
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Osteopenia, Joint laxity, Thin bony cortex, Anemia, Scoliosis, Reduced bone mineral... OMIM:613658
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Posterior scalloping of vertebral bodies, Narrow iliac wing, Flexion contracture, Kyphosis, Abnor... ORPHA:3042
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Hyperinsulinemia, Splenomegaly, Hepatomegaly, Insulin-resi... OMIM:608594
Spastic Paraplegia 46, Autosomal Recessive
Scoliosis, Kyphosis OMIM:614409
Marshall-Smith Syndrome
Slender finger, Thoracic scoliosis, Decreased hip abduction, Distal widening of metacarpals, Thor... OMIM:602535