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Gene: Irak3 MGI:1921164

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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.

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
Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn... ORPHA:1802
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Defective T cell proliferat... OMIM:615615
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Arthralgia/arthritis, Autoimmunity, Reactive hypoglycemia, Insulin resis... ORPHA:411593
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... ORPHA:2790
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Eiken Syndrome
Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph... ORPHA:79106
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Autoimmunity... OMIM:617006
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Autoimmunity, Decreased circulating IgA level OMIM:609529
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Abnormal enchondral... ORPHA:2635
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Gnathodiaphyseal Dysplasia
Osteopenia, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, Scoliosis, T... ORPHA:53697
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Autoimmunity, Anti-thyroid peroxidase antibody p... ORPHA:277
Brachyolmia Type 1, Hobaek Type
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... OMIM:271530
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Tn Polyagglutination Syndrome
Abnormal erythrocyte morphology, Autoimmunity OMIM:300622
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... ORPHA:970
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Caffey Disease
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Increase... ORPHA:1310
Diabetes Mellitus, Ketosis-Prone
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus, Autoimmunity OMIM:612227
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab... ORPHA:2204
Pyle Disease
Metaphyseal dysplasia, Metaphyseal widening, Reduced bone mineral density, Genu valgum, Platyspon... OMIM:265900
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Ck Syndrome
Hyperlordosis, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal digit morphology,... OMIM:300831
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Autoimmune Disease
Autoimmune antibody positivity, Autoimmunity OMIM:109100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... OMIM:300853
Pemphigus Vulgaris, Familial
Autoimmune antibody positivity, Autoimmunity OMIM:169610
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Cranio-Osteoarthropathy
Eczema, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Clubbing of toes, Deviation o... ORPHA:1525
Proteus Syndrome
Kyphoscoliosis, Splenomegaly, Mandibular hyperostosis, Spinal canal stenosis, Calvarial hyperosto... OMIM:176920
Cernunnos-Xlf Deficiency
Autoimmunity, Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia,... ORPHA:169079
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Pancrea... ORPHA:79084
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Splenome... OMIM:614470
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Autoimmunity, Splenomegaly, Recurrent pneumonia, Bronchie... OMIM:240500
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met... OMIM:619638
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Winchester Syndrome
Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os... OMIM:277950
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Chilblain Lupus
Inflammatory abnormality of the skin, Antiphospholipid antibody positivity, Rheumatoid factor pos... ORPHA:90280
Mahvash Disease
Recurrent pancreatitis, Type II diabetes mellitus, Pancreatic alpha-cell hyperplasia, Increased g... OMIM:619290
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Abscess, Eczema, Perianal absce... OMIM:618935
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Pathologic fr... ORPHA:166277
Lipase Deficiency, Combined
Type II diabetes mellitus, Pancreatitis OMIM:246650
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Multiple small verteb... OMIM:619795
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... ORPHA:75508
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim... ORPHA:174
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Familial Expansile Osteolysis
Pathologic fracture, Bowing of the long bones, Osteolysis, Thin bony cortex OMIM:174810
Lethal Congenital Contracture Syndrome Type 1
Recurrent fractures, Short neck, Limitation of joint mobility, Abnormal form of the vertebral bod... ORPHA:1486
Pseudoachondroplasia
Limited hip extension, Delayed epiphyseal ossification, Osteoarthritis, Metaphyseal widening, Fra... OMIM:177170
Gorham-Stout Disease
Osteopenia, Osteomyelitis, Abnormal pelvis bone morphology, Osteolysis involving bones of the upp... ORPHA:73
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Grant Syndrome
Bowing of the long bones, Decreased skull ossification, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2097
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto... ORPHA:331206
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Eosinophilopenia
Decreased eosinophil count, Autoimmunity, Allergic rhinitis OMIM:131430
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Autoimmunity, Chronic hepatitis due to cryp... ORPHA:572
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Slender long bones with narrow diaphyses, Dense metaphyseal bands ORPHA:50811
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Lymphocytic interstitial pneumonia, Sple... OMIM:618495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Joint stiffness, Kyphosis, Abnor... ORPHA:40
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Melnick-Needles Syndrome
Craniofacial hyperostosis, Bowing of the long bones, Coxa valga, Hip dislocation, Osteolytic defe... ORPHA:2484
Macrophage Activation Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Splenomegaly,... ORPHA:158061
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Autoimmunity, Eczema, Abnormal immunoglobulin level, Increased T cell count, Increased circulatin... ORPHA:98813
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... ORPHA:540
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Reduced bone mineral density, Delayed ossification of carpal bones, Short femoral neck,... OMIM:618392
Pachydermoperiostosis
Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobility, Osteoporo... ORPHA:2796
Caffey Disease
Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... OMIM:114000
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Bronchiectasis, Chronic lymphatic le... OMIM:616005
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Autoimmunity, Anemia of inadequate production, Megaloblastic ane... OMIM:617780
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased ... OMIM:617241
Activated Pi3K-Delta Syndrome
Hepatomegaly, Autoimmunity, Pneumonia, Splenomegaly, Bronchiectasis, Decreased circulating antibo... ORPHA:397596
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Horizontal sacrum,... OMIM:112350
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
C1Q Deficiency 1
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus OMIM:613652
Congenital Pancreatic Cyst
Jaundice, Pancreatitis ORPHA:313906
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmunity, Eczema, Autoimmune thrombocytopenia, Neutropenia in pr... OMIM:615952
Gm1-Gangliosidosis, Type Ii
Coxa valga, Joint stiffness, Splenomegaly, Hypoplastic vertebral bodies, Platyspondyly, Limb unde... OMIM:230600
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hypophosphatemic Rickets, X-Linked Recessive
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300554
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Autosomal Recessive Primary Microcephaly
Abnormal cortical bone morphology ORPHA:2512
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:241530
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Hallux valgus, Joint laxity, Contracture of the proximal interphalangeal joint of the... OMIM:130060
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux... ORPHA:93284
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Systemic lupus erythematosus, Leukopenia, Mono... OMIM:616871
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ... OMIM:251450
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Anti-islet antigen-2 antibody positivity, Increased mean corpuscular volume, T-cell... OMIM:620044
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, B lymphocytope... OMIM:301078
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... ORPHA:93360
Spondylometaphyseal Dysplasia, X-Linked
Hyperextensibility of the finger joints, Hip contracture, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Autoimmunity, Abnormal lymphocyte physiology, Minimal change glomerulon... ORPHA:1830
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Metaphyseal widening, Metatarsal osteolysis, Camptodactyly of toe, Wrist flexion cont... OMIM:259600
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Hereditary Chronic Pancreatitis
Diabetes mellitus, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Osteogenesis Imperfecta, Type Xviii
Joint laxity, Bowing of the long bones, Recurrent fractures, Joint hypermobility, Vertebral compr... OMIM:617952
Progressive Pseudorheumatoid Dysplasia
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... OMIM:208230
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphy... OMIM:144750
Spastic Paraplegia 18B, Autosomal Recessive
Kyphosis, Joint contracture, Scoliosis OMIM:611225
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Acquired Partial Lipodystrophy
Hepatic steatosis, Insulin resistance, Autoimmunity, Lymphocytosis ORPHA:79087
Florid Cemento-Osseous Dysplasia
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... ORPHA:83451
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, ... OMIM:613848
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Decreased ... OMIM:619281
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Slender long bones with narrow diaphyses, Disharmonious carpal bone, Sho... OMIM:608154
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Hepatic steatosis, Pancreatitis, Adrenal insufficiency OMIM:619386
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Subcorneal Pustular Dermatosis
Hyperthyroidism, Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antib... ORPHA:48377
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... ORPHA:289176
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Increased cir... ORPHA:3409
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Diabetes mellitus, Cholangitis, Intrahepatic cholestasis, Biliary cirrhosis, Neopl... ORPHA:69663
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperglycemia OMIM:608600
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor... OMIM:259450
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Pr... ORPHA:628
Alpha-Mannosidosis
Craniofacial hyperostosis, Bowing of the long bones, Short neck, Kyphosis, Splenomegaly, Arthriti... ORPHA:61
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Splenomegaly, Recurrent pneumonia, Decreased... OMIM:612301
Dent Disease 1
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... OMIM:300009
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Hepatic steatosis, Pancreatitis, Microcytic anemia OMIM:618805
Immunodeficiency 22
Pericarditis, Abscess, Autoimmunity, Anemia, Decreased circulating total IgM, Panniculitis, Decre... OMIM:615758
Smith-Mccort Dysplasia 1
Multicentric femoral head ossification, Short metacarpal, Iliac crest serration, Hypoplastic scap... OMIM:607326
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Propionic Acidemia
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Anemia, Neutropenia, Pancreatitis, Thrombocytop... OMIM:606054
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol... OMIM:234250
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin resistance, Insulin-res... ORPHA:79083
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Leukopenia, Tubulointerstitial nephritis, Neutropenia, Pancreatitis, ... OMIM:251000
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... OMIM:616329
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly, Osteoporosis ORPHA:2786
Chylous Ascites
Pancreatitis ORPHA:1160
Fibrous Dysplasia Of Bone
Abnormal morphology of the radius, Thin bony cortex, Cortical irregularity, Bowing of the long bo... ORPHA:249
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Frank-Ter Haar Syndrome
Acne, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnormal metacar... ORPHA:137834
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Autoimmunity, Bone marrow hypocellularity ORPHA:98827
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Abnormality of the vertebral ... OMIM:607634
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bo... OMIM:223800
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Mitochondrial Complex I Deficiency, Nuclear Type 8
Pancreatitis OMIM:618230
Spondyloepiphyseal Dysplasia Congenita
Back pain, Limited elbow movement, Short neck, Reduced bone mineral density, Abnormally ossified ... ORPHA:94068
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carcinoma, Choleli... ORPHA:65682
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Hepatomeg... ORPHA:171
Pgm3-Cdg
Rheumatoid factor positive, Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Increased circ... ORPHA:443811
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... ORPHA:289157
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Autoimmunity, Abnormality of neutrop... ORPHA:229717
Igg4-Related Aortitis
Increased inflammatory response, Autoimmunity, Increased circulating IgG4 level, Antinuclear anti... ORPHA:449400
Gallbladder Disease 1
Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic fibrosis, Cholecystitis, Bile du... OMIM:600803
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Spondylometaphyseal Dysplasia, Kozlowski Type
Kyphoscoliosis, Short neck, Irregular, rachitic-like metaphyses, Hypoplasia of the odontoid proce... OMIM:184252
Arthrogryposis, Distal, Type 4
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar s... OMIM:609128
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Eosinophilia, Kyphoscoliosis, Coxa va... OMIM:617425
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto thyroiditis, ... ORPHA:227990
Microscopic Polyangiitis
Episcleritis, Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, ... ORPHA:727
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T... OMIM:619774
Cholestasis, Benign Recurrent Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice OMIM:243300
Immunodeficiency 32B
Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, Bronchiectasis,... OMIM:226990
Zimmermann-Laband Syndrome 3
Kyphosis, Aplasia of the distal phalanx of the 5th toe, Flexion contracture, Absent distal phalan... OMIM:618658
Osteogenesis Imperfecta, Type Ix
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvarial ossification, Pla... OMIM:259440
Bruck Syndrome
Bowing of the long bones, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspon... ORPHA:2771
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointerstitial nep... ORPHA:227982
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Autoimmunity, Insulin resistance, Insulin-resistant diabetes me... ORPHA:79086
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Aplastic clavicle, Kyphosis, Abnormal form of the vertebral bodies, Bifid fe... ORPHA:2769
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Autoimmunity, Sinusitis, Pneumonia,... ORPHA:83471
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:2348
Legionnaires Disease
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Bone marrow hypocellu... ORPHA:549
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Ta... OMIM:600175
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Short foot, Periodontitis, Reduction of neutrophil motility, Recurrent o... OMIM:266265
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Impaired T cell function, Pure red cell aplasia, Autoimmu... OMIM:613179
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Kyphosis, Increased circulating IgE level, Hip dysplasia, Scoliosis, Hypoplastic i... ORPHA:1858
Bethlem Myopathy 2
Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocation, Scoliosis OMIM:616471
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil nuclei, Giant platel... OMIM:169400
Stüve-Wiedemann Syndrome
Osteopenia, Sacral dimple, Flexion contracture of finger, Bowing of the long bones, Camptodactyly... ORPHA:3206
Mody
Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... ORPHA:552
Mucopolysaccharidosis, Type Iva
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proce... OMIM:253000
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Liver kidney microsome type 1 antibody positivity, Antinuclear antibody positivity, Anti-liver cy... ORPHA:562639
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... OMIM:301900
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Limited elbow movement, Increased intervertebral space, Thoracolumbar kyphosis, T lymphocytopenia... ORPHA:508533
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Hypoplasia of the ulna, Skin rash, Aplastic anem... ORPHA:2909
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cervical spine ORPHA:48431
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Increased circulating IgG level, Glucose in... ORPHA:2298
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Pancytopenia, Hypersplenism, Kyphosis, Osteoarthritis... ORPHA:77259
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Neutropeni... OMIM:271510
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... OMIM:619752
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Kyphosis, Talipes equinovarus, Scoliosis OMIM:617087
Pancreatitis, Hereditary
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Pancreatitis, Exocrine pancre... OMIM:167800
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... OMIM:617253
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility OMIM:618323
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Increased bone mineral density, Aplastic clavicle, Kyphosis, Abnormal metacarp... ORPHA:2658
Frank-Ter Haar Syndrome
Osteopenia, Bowing of the long bones, Acne, Anterior concavity of thoracic vertebrae, Kyphoscolio... OMIM:249420
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Autoimmunity, Hypoglycemic seizures, Increased hepatic glycogen content,... ORPHA:293964
Oculodentodigital Dysplasia
Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Short hallux, Aplasia/Hypoplasia of t... ORPHA:2710
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Abnormal lymphocyte proliferation, Pure red cell aplasia... ORPHA:99867
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Talipes equinovarus, Congenital bilateral hip dislocation ORPHA:85288
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... OMIM:271700
Cach Syndrome
Optic neuritis, Pancreatitis, Hepatosplenomegaly ORPHA:135
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Acne, Rhizomelia, Short neck, Abnormality of the humerus, Kyphosis, Preaxial hand ... ORPHA:3098
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Osteomyelitis, Skin rash, Neutrophilia, Abscess, Pustule, Splenomegaly, Periostitis, ... OMIM:612852
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Hip dysplasia, Eczema OMIM:620007
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Osteoporosis, Scoliosis OMIM:618234
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flat... ORPHA:457395
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Thorac... OMIM:618019
Tropical Pancreatitis
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... ORPHA:103918
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Iridocyclitis, Type II diabetes mellitus, Type I diabetes mellitus, Hypothyroidism, Pancreatitis ORPHA:412057
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Osteogenesis Imperfecta
Osteopenia, Cervical kyphosis, Micromelia, Osteoarthritis, Abnormal tibia morphology, Flexion con... ORPHA:666
Igg4-Related Kidney Disease
Rheumatoid factor positive, Lymphadenitis, Increased circulating IgG level, Tubulointerstitial ne... ORPHA:449395
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Autoimmunity OMIM:222100
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Aplasia/hypop... ORPHA:221016
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis OMIM:300718
Sialidosis Type 2
Splenomegaly, Kyphosis, Flexion contracture, Osteoporosis ORPHA:87876
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Cidec-Related Familial Partial Lipodystrophy
Hepatomegaly, Insulin-resistant diabetes mellitus, Hepatic steatosis, Pancreatitis ORPHA:435651
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Aplastic anemia, Metaphyseal s... ORPHA:221008
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... ORPHA:37042
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Severe generalized osteoporosis, Recurrent fractures, Multiple prenatal frac... OMIM:259420
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Arachnodactyly, Osteoporosis, Slen... ORPHA:536467
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Ballooning hepatocyte degeneration, Hepatic fibrosis, Hepatocellular carcino... OMIM:603471
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis OMIM:616756
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Recurre... ORPHA:47
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Autoimmunity, Splenomegaly, ... OMIM:615387
Congenital Muscular Dystrophy, Ullrich Type
Long toe, Spinal rigidity, Short neck, Kyphosis, Flexion contracture, Hip dislocation, Elbow flex... ORPHA:75840
Acute Lung Injury
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ... ORPHA:178320
Bullous Pemphigoid
Diabetes mellitus, Psoriasiform dermatitis, Eczema, Autoimmunity ORPHA:703
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Short neck, Long fi... OMIM:309583
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Limitation of join... OMIM:313400
Igg4-Related Ophthalmic Disease
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Cholangitis, Antinuclear antibody posi... ORPHA:449563
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... OMIM:615290
Psoriasis-Related Juvenile Idiopathic Arthritis
Finger dactylitis, Anterior uveitis, Psoriasiform dermatitis, Skin rash, Generalized morning stif... ORPHA:85436
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Scoliosis, Reduced bone mineral density ORPHA:2617
Mucopolysaccharidosis Type 4
Bowing of the long bones, Hyperlordosis, Short neck, Kyphosis, Coxa valga, Spinal canal stenosis,... ORPHA:582
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen... OMIM:300106
Systemic Capillary Leak Syndrome
Myocarditis, Leukocytosis, Pancreatitis, Pericarditis ORPHA:188
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Autoimmunity, Cholangitis, Portal hypertension, Hypersplenism, Hypothyroidism, Anti... ORPHA:228426
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Nephritis, Infectious... ORPHA:2552
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Generalized lymphadenopathy,... OMIM:618986
Sandhoff Disease
Splenomegaly, Kyphosis ORPHA:796
Spondyloenchondrodysplasia With Immune Dysregulation
Increased intervertebral space, Metaphyseal widening, Irregular vertebral endplates, T lymphocyto... OMIM:607944
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Tropical Calcific Pancreatitis
Neoplasm of the pancreas, Insulin-dependent but ketosis-resistant diabetes, Pancreatic calcificat... OMIM:608189
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Short neck, Kyphosis, Hip dysplasia, Talipes equinovarus, Scoliosis, Hand cle... OMIM:611890
Mucopolysaccharidosis, Type Ivb
Joint laxity, Ovoid vertebral bodies, Hyperlordosis, Epiphyseal deformities of tubular bones, Hyp... OMIM:253010
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Spinal canal stenosis, Scoliosis, Broad ... OMIM:277600
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Multiple joint contractures, Metaphyseal widening, Generalized joint laxity, Abnormal... ORPHA:536471
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Large hands, Scoliosis, Tapered finger ORPHA:276630
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... OMIM:209920
Masa Syndrome
Kyphosis, Adducted thumb, Talipes equinovarus, Hyperlordosis OMIM:303350
Dysostosis, Stanescu Type
Increased bone mineral density, Bowing of the long bones, Micromelia, Hyperlordosis, Short neck, ... ORPHA:1798
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Recurrent pneumo... ORPHA:47612
Cdkl5-Deficiency Disorder
Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis ORPHA:505652
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short neck, Hypoplasia of t... OMIM:183900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level, Decreased ... OMIM:300861
Myopathic Ehlers-Danlos Syndrome
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... ORPHA:536516
Peroxisome Biogenesis Disorder 12A (Zellweger)
Abnormal cortical bone morphology OMIM:614886
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis OMIM:617404
Pauci-Immune Glomerulonephritis
Glomerulonephritis, Antinuclear antibody positivity, Cytoplasmic antineutrophil antibody positivi... ORPHA:93126
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pituitary hypothyroidism, Decreased propor... ORPHA:66628
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Nephritis, Pancreatitis... ORPHA:449427
Ruvalcaba Syndrome
Short metacarpal, Micromelia, Kyphosis, Limited elbow extension, Short metatarsal, Small hand, Sh... OMIM:180870
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis OMIM:125440
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis, Decreased circulating antibody level ORPHA:85317
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures ORPHA:85193
Coccidioidomycosis
Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... ORPHA:228123
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Hepatocellular carcinoma, Splenomegaly, Gout, In... OMIM:232220
Caroli Syndrome
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:480520
Camurati-Engelmann Disease
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... ORPHA:1328
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal metaphysis morphology, Abnormal form of the vertebral bodies, Mesomelic/rhizom... ORPHA:1354
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Genu valgum, Reduced bone mineral density, Spina bifida occulta ORPHA:2983
Fountain Syndrome
Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Kyphosis, Abnormal form of the v... ORPHA:3219
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Pituitary hypothyroidism, Decreased propor... ORPHA:179494
Achondroplasia
Brachydactyly, Lumbar hyperlordosis, Rhizomelia, Bowing of the legs, Hip joint hypermobility, Kyp... ORPHA:15
Flynn-Aird Syndrome
Kyphosis, Bone cyst, Scoliosis, Joint stiffness ORPHA:2047
Aspartylglucosaminuria
Abnormal morphology of ulna, Joint stiffness, Splenomegaly, Arthritis, Scoliosis, Anterior beakin... ORPHA:93
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Metaphyseal widening, Abnormal form of the vertebral bodies, Triangular shaped distal phalanges o... ORPHA:73230
Dent Disease
Enlarged epiphyses, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Del... ORPHA:1652
Geroderma Osteodysplasticum
Osteopenia, Beaking of vertebral bodies, Hyperextensibility of the finger joints, Recurrent fract... OMIM:231070
Lysinuric Protein Intolerance
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Antinucl... ORPHA:470
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Joint stiffness, Broad metatarsal, Short metatarsal, Spin... OMIM:608328
Hyperparathyroidism 2 With Jaw Tumors
Recurrent pancreatitis, Hyperparathyroidism, Pancreatic adenocarcinoma OMIM:145001
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Autism Spectrum Disorder Due To Auts2 Deficiency
Eczema, Kyphosis, Congenital contracture, Joint contracture of the 5th finger, Scoliosis, Arthrog... ORPHA:352490
Roifman Syndrome
Eczema, Eosinophilia, Recurrent pneumonia, Decreased circulating antibody level, Hepatosplenomega... ORPHA:353298
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Autoimmunity, Splenomegaly, Juvenile rhe... ORPHA:85414
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Flat capital femoral epiphysis, Joint stiffness, Genu valgum... OMIM:252605
Hurler Syndrome
Hypoplasia of the femoral head, Diaphyseal thickening, Short neck, Coxa valga, Hypoplasia of the ... OMIM:607014
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Recurrent fractures, Kyphosis, Reduced bone mineral density, Incre... OMIM:166220
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Bone marr... ORPHA:3226
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatic steatosis, Hepatomegaly, Hypoglycemia, Chronic neutropenia, Enterocolitis, Gout, Hepatoce... ORPHA:79259
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Autoimmunity, Increased circulating IgG4 level, Retroperitoneal fibrosis, An... ORPHA:64744
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus... OMIM:618484
Pycnodysostosis
Joint laxity, Increased bone mineral density, Brachydactyly, Rhizomelia, Hyperlordosis, Hypoplast... ORPHA:763
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, S... ORPHA:583
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Joint stiffness, Kyphosis, Splenomegaly, Abnormal form of... ORPHA:354
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Arachnodactyly, Scoliosis, Joint stiffness ORPHA:1548
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally formed scapulae, R... ORPHA:140
Spondyloocular Syndrome
Osteopenia, Long toe, Arachnodactyly, Femur fracture, Overlapping toe, Long fingers, Platyspondyl... OMIM:605822
Gm1-Gangliosidosis, Type Iii
Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo... OMIM:230650
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly OMIM:300337
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Kyphosis, Scoliosis, Broad dista... OMIM:615761
Zygomycosis
Brain abscess, Fasciitis, Sinusitis, Pericarditis, Gastritis, Diabetes mellitus, Pustule, Myocard... ORPHA:73263
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
3-Hydroxy-3-Methylglutaric Aciduria
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumula... ORPHA:20
Pemphigus Erythematosus
Autoimmunity, Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, S... ORPHA:79480
Mccune-Albright Syndrome
Pancytopenia, Hyperthyroidism, Elevated circulating growth hormone concentration, Hepatitis, Chol... ORPHA:562
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Inflammatory abnormality of the skin, Diabetes mellitus, Splenomegaly, Vacuolated l... ORPHA:565612
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent ... ORPHA:444490
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis OMIM:609384
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatic steatosis, Hepatomegaly, Acute pancreatitis, Chilblains, Portal hyperte... OMIM:619487
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Osteopenia, Joint laxity, Arachnodactyly, Coxa valga, Metaphyseal widening, Hip dislocation, Hand... OMIM:620083
Faciocardiomelic Syndrome
Osteopenia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Hypoplastic pelvis, T... OMIM:612731
Stuve-Wiedemann Syndrome 1
Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Short tibia, Short phalanx o... OMIM:601559
Sjögren-Larsson Syndrome
Kyphosis, Inflammatory abnormality of the eye, Scoliosis, Joint stiffness ORPHA:816
Mitochondrial Myopathy And Sideroblastic Anemia
Anemia, Kyphosis, Scoliosis ORPHA:2598
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Maculopapular exanthema, Skin rash, Hypoglycemia, Orc... ORPHA:99826
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Broad femoral neck, Increased intervertebral space, Broad ischia, Diaphyse... OMIM:619727
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatic steatosis, Pancreatitis ORPHA:280365
Granulomatosis With Polyangiitis
Increased inflammatory response, Pericarditis, Sinusitis, Skin rash, Autoimmunity, Prostatitis, G... ORPHA:900
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Neutrophilia, Eosinophilia, Cholangitis, Eczema, Thrombocyt... ORPHA:3260
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... OMIM:143095
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviation of the hand, Multiple ... OMIM:618291
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hepatic steatosis, Pancreatitis OMIM:236200
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... ORPHA:3454
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Clinoda... ORPHA:178148
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Jaundice, Pancreatitis, Anemia ORPHA:370348
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Holt-Oram Syndrome
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Jo... ORPHA:392
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Recurrent fr... OMIM:239000
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility ORPHA:1875
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... ORPHA:90033
Pigmented Nodular Adrenocortical Disease, Primary, 2
Primary hypercortisolism, Increased circulating cortisol level, Pancreatitis OMIM:610475
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increase... OMIM:617099
X-Linked Charcot-Marie-Tooth Disease Type 1
Kyphosis, Scoliosis ORPHA:101075
Dysbetalipoproteinemia
Hepatic steatosis, Acute pancreatitis, Hepatomegaly, Diabetes mellitus, Gout, Hypothyroidism ORPHA:412
Sjogren Syndrome
Autoimmunity, Xerostomia, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid ar... OMIM:270150
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture OMIM:618237
3M Syndrome
Hypoplasia of the ulna, Congenital hip dislocation, Rocker bottom foot, Micromelia, Hyperlordosis... ORPHA:2616
Immunodeficiency 91 And Hyperinflammation
Membranoproliferative glomerulonephritis, Maculopapular exanthema, Neutrophilia, Recurrent pneumo... OMIM:619644
Glycogen Storage Disease Ia
Hepatomegaly, Hypoglycemia, Gout, Fasting hypoglycemia, Hepatocellular carcinoma, Pancreatitis OMIM:232200
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me... OMIM:618476
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Sandal gap, Rocker bottom foot, Camptodactyly of finger, Joint hypermobility, Kyph... OMIM:619951
Occipital Horn Syndrome
Osteopenia, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomalacia, Aplastic clavic... ORPHA:198
Adult-Onset Still Disease
Pericarditis, Generalized lymphadenopathy, Skin rash, Neutrophilia, Myocarditis, Splenomegaly, Le... ORPHA:829
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Short neck, Metatarsus adductus, Hypoplasia of the ... OMIM:253220
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Schaaf-Yang Syndrome
Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Short foot, Scolio... OMIM:615547
Intellectual Developmental Disorder, Autosomal Dominant 26
Clinodactyly of the 5th finger, Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:615834
Thanatophoric Dysplasia
Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibili... ORPHA:2655
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Congenital hip dislocation, Kyphosis, Scoliosis, Disloca... OMIM:619797
Stickler Syndrome, Type I
Arachnodactyly, Joint stiffness, Kyphosis, Osteoarthritis, Irregular femoral epiphysis, Arthritis... OMIM:108300
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Acute colitis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemol... ORPHA:90038
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Kyphoscoliosis, Limited elbow movement, Kyphosis, Tali... OMIM:300280
Immunodeficiency 58
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... OMIM:618131
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Arthrogryposis, Distal, Type 5
Arachnodactyly, Limited wrist extension, Kyphosis, Absent phalangeal crease, Distal arthrogryposi... OMIM:108145
Cole-Carpenter Syndrome 2
Osteopenia, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal craniosynostosis, Coronal cr... OMIM:616294
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb ORPHA:2181
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Scoliosis ORPHA:2429
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polys... OMIM:614576
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Short neck, Metatarsus valgus, Kyphosis, Postaxial hand pol... ORPHA:3082
Clark-Baraitser syndrome
Joint laxity, Tapered finger, Kyphosis, Genu valgum, Scoliosis, Short palm OMIM:300602
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hypoglycemia, Acute pancreatitis ORPHA:26791
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Kyphosis, Small hand, C... ORPHA:3121
Citrullinemia Type Ii
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Hepatic steatosis, Pancreatitis ORPHA:247585
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Cortical sclerosis, Osteopetrosis, Pathologic fracture, Anemia OMIM:620366
X-Linked Charcot-Marie-Tooth Disease Type 4
Kyphosis, Scoliosis ORPHA:101078
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Autoimmunity, Cholangitis, Retroperitoneal fibros... ORPHA:449432
Myofibrillar Myopathy 10
Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract... OMIM:619040
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Acute colitis, Diabetes mellitus, Pneumonia, Myocarditis, Leukoc... ORPHA:544482
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II ... OMIM:151660
Crimean-Congo Hemorrhagic Fever
Hyperhidrosis, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbil... ORPHA:99827
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm ORPHA:238750
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Tapered finger, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus valgus, Genu ... ORPHA:2479
Lopes-Maciel-Rodan Syndrome
Short foot, Kyphosis, Small hand, Scoliosis OMIM:617435
Melas
Hypoparathyroidism, Diabetes mellitus, Recurrent pancreatitis, Type II diabetes mellitus, Type I ... ORPHA:550
Brachyolmia Type 3
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondyly, Short femoral nec... OMIM:113500
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytos... OMIM:260920
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Osteoporosis, Scoliosis OMIM:615381
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Joint hyperflexibility ORPHA:319199
19P13.12 Microdeletion Syndrome
Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Scoliosi... ORPHA:254346
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal hip bone morphology, Abno... ORPHA:2522
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Split hand, Scoliosis OMIM:618124
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Hallux valgus, Thoracic scoliosis, Sacral dimple, Arachnodactyly, Sandal gap, Kyphosc... ORPHA:536532
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, T... ORPHA:192
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Hemophagocytosis, Pancreatitis, Thrombocytopenia OMIM:222700
Subaortic Stenosis-Short Stature Syndrome
Acne, Short neck, Kyphosis, Scoliosis, Synostosis of carpal bones ORPHA:3191
Familial Mediterranean Fever
Pericarditis, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Arthritis, Erysipel... ORPHA:342
Shashi-Pena Syndrome
Short metacarpal, Kyphosis, Osteoporosis, Scoliosis, Cervical C2/C3 vertebral fusion OMIM:617190
Spondyloenchondrodysplasia
Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Bowing of... ORPHA:1855
Mulibrey Nanism
Thickened cortex of long bones OMIM:253250
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Spinal rigidity, Kyphosis, Achilles tendon contracture, Oste... OMIM:620351
Myopathy, Centronuclear, 2
Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis OMIM:255200
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Osteoporosis, Ti... OMIM:259770
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Short neck, Flexion contracture, Knee flexion contracture, Camptodac... OMIM:265000
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Orchitis, Splenomegaly, Retrobulba... ORPHA:117
Hypocalciuric Hypercalcemia, Familial, Type I
Hyperparathyroidism, Pancreatitis OMIM:145980
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Conjunctivitis, Pancreatitis, Anemia ORPHA:36426
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Pancreatitis OMIM:145981
Trisomy 20P
Finger syndactyly, Camptodactyly of finger, Short neck, Kyphosis, Preaxial hand polydactyly, Abno... ORPHA:261318
Mirizzi Syndrome
Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Abnormal ductus choledochus morph... ORPHA:521219
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Short toe, Brachydactyly, Hyperlordosis ORPHA:3085
Mgat2-Cdg
Osteopenia, Impaired lymphocyte transformation with phytohemagglutinin, Kyphosis, Decreased circu... ORPHA:79329
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:606612
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Abnorm... ORPHA:93274
Wieacker-Wolff Syndrome
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Hip dislocation, Congenital foo... OMIM:314580
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Toxic Epidermal Necrolysis
Anemia, Conjunctivitis, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Hajdu-Cheney Syndrome
Osteopenia, Brachydactyly, Bowing of the long bones, Recurrent fractures, Short neck, Hypoplastic... ORPHA:955
Typical Nemaline Myopathy
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Hip dislocation, Genu ... ORPHA:171436
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Hypoglycemia, Chronic pancreatitis, Gout, Inflammat... OMIM:232240
15Q24 Microdeletion Syndrome
Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Abnormal toe morp... ORPHA:94065
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Joint laxity, Sandal gap, Kyphosis, Small hand, Short foot, Brachydactyly OMIM:300354
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck, Kyphosis, Achilles... OMIM:301041
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... ORPHA:2911
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Baralle-Macken Syndrome
Kyphosis, Tapered finger OMIM:619255
Cleidocranial Dysplasia 1
Increased bone mineral density, Brachydactyly, Hypoplastic scapulae, Aplastic clavicle, Short mid... OMIM:119600
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Splenomegaly, Hyperinsulinemia, Insulin-resi... OMIM:608594
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Osteopenia, Sacral dimple, Eczema, Short neck, Kyphosis, Talipes cavus equinovarus, Prominent pro... OMIM:300966
Schwartz-Jampel Syndrome
Micromelia, Short neck, Coxa vara, Wrist flexion contracture, Abnormally ossified vertebrae, Incr... ORPHA:800
Cystic Fibrosis
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... OMIM:219700
Scapuloperoneal Spinal Muscular Atrophy
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Talipes equinovarus, Sco... OMIM:181405
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Recurrent otitis media, Cholelithiasis, Hypot... OMIM:618268
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Hyperinsulinemia, Insuli... OMIM:269700
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Limitation of joint mobility, Flexion contracture, Scoliosis ORPHA:1545
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Short neck, Kyphosis, Split hand... ORPHA:958
Alstrom Syndrome
Chronic active hepatitis, Kyphosis, Recurrent pneumonia, Tubulointerstitial nephritis, Hyperostos... OMIM:203800
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Acth-Independent Macronodular Adrenal Hyperplasia
Osteopenia, Kyphosis, Osteoporosis OMIM:219080
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... ORPHA:542323
Congenital Disorder Of Glycosylation, Type Il
Hepatosplenomegaly, Kyphosis, Hip dislocation, Short neck OMIM:608776
Marinesco-Sjogren Syndrome
Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scoliosis OMIM:248800
Ullrich Congenital Muscular Dystrophy 1
Joint laxity, Spinal rigidity, Kyphosis, Distal joint laxity, Flexion contracture, Hip dislocatio... OMIM:254090
Martsolf Syndrome 1
Joint laxity, Thoracic scoliosis, Lumbar hyperlordosis, Short metacarpal, Metatarsus adductus, Sl... OMIM:212720
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Scoliosis OMIM:610743
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Kyphosis, Hip dislocation, Scoliosis ORPHA:464282
Marshall-Smith Syndrome
Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara... OMIM:602535
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Pancytopenia, Rickets, Reduced bone mineral density, Anemia, Scoliosis,... OMIM:613658
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis ORPHA:1883
2Q31.1 Microdeletion Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Sandal gap, Abnormal morphology of ulna,... ORPHA:251014
Mcdonough Syndrome
Kyphosis, Scoliosis ORPHA:2471
Atypical Rett Syndrome
Short foot, Kyphosis, Small hand, Scoliosis ORPHA:3095
Familial Hypocalciuric Hypercalcemia
Pancreatitis, Autoimmunity ORPHA:405
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Joint hyperflexibility OMIM:614898
Lateral Meningocele Syndrome
Craniofacial hyperostosis, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bo... ORPHA:2789
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Brain abscess, Lumbar hyperlordosis, Rhizomelia, Kyphosis, Femoral bowing, Tibial bowing, Platysp... OMIM:616482
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Pericarditis, Kyphosis, Flexion contracture, Thrombocytosis, Decreased circulating Ig... OMIM:212065
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Scoliosis ORPHA:99014
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Small hand, Genu valgum, Short foot, Short 5th ... OMIM:618443
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Bone cyst, Flexion contracture, Osteolysis, Abnormal form of the verte... ORPHA:3042
Hemifacial Atrophy, Progressive
Kyphosis OMIM:141300
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Hip dislocation, Vertebral segmentat... ORPHA:1005
Gm1-Gangliosidosis, Type I
Short neck, Joint stiffness, Kyphosis, Splenomegaly, Vacuolated lymphocytes, Hypoplastic vertebra... OMIM:230500
Intellectual Developmental Disorder, Autosomal Dominant 57
Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618050
Spastic Paraplegia 46, Autosomal Recessive
Kyphosis, Scoliosis OMIM:614409
Psoriasis 14, Pustular
Neutrophilia, Psoriasiform dermatitis, Cholangitis, Pustule, Leukocytosis, Oligoarthritis OMIM:614204
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnormal form of the verte... ORPHA:2916
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Proximal placement of thumb OMIM:615433
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis OMIM:619718
Yellow Fever
Acute pancreatitis, Neutrophilia, Skin rash, Leukocytosis, Jaundice, Pancreatic hyperplasia, Incr... ORPHA:99829
Prader-Willi Syndrome
Osteopenia, Syndactyly, Kyphosis, Acromicria, Osteoporosis, Small hand, Genu valgum, Short foot, ... OMIM:176270
Hypocalciuric Hypercalcemia, Familial, Type Iii
Primary hyperparathyroidism, Pancreatitis OMIM:600740
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Tapered finger, Kyphosis, Neutropenia, Slender toe... ORPHA:193
Cole-Carpenter Syndrome
Crumpled long bones, Bowing of the long bones, Recurrent fractures, Kyphosis, Abnormal form of th... ORPHA:2050
Sialidosis Type 1
Splenomegaly, Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:812
Becker Nevus Syndrome
Micromelia, Kyphosis, Abnormal tibia morphology, Scoliosis, Spina bifida occulta ORPHA:64755
Zimmermann-Laband Syndrome 2
Kyphosis, Short neck OMIM:616455
Alg1-Cdg
Kyphosis, Limitation of joint mobility, Scoliosis ORPHA:79327
Spondyloarthropathy, Susceptibility To, 1
Back pain, Anterior uveitis, Psoriasiform dermatitis, Kyphosis, Oligoarthritis, Enthesitis, Sacro... OMIM:106300
Camptodactyly Syndrome, Guadalajara Type 3
Osteopenia, Short neck, Small hand, Short foot, Spina bifida occulta, Thickened cortex of long bo... ORPHA:488434
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormal intervertebral disk morphology, Camptodactyly of finger, Short neck, ... ORPHA:2311
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Autoimmunity, Increased circulating IgG4 level, Increased circulating IgA level, Antinu... ORPHA:79078
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Camptodactyly of finger, Down-sloping shoulders, Short neck, Kyphosis... ORPHA:85293
Yunis-Varon Syndrome
Aplasia of the distal phalanges of the hand, Abnormal finger morphology, Aplasia of the 1st metac... ORPHA:3472
Mucopolysaccharidosis, Type Ii
Short neck, Kyphosis, Splenomegaly, Split hand, Recurrent pneumonia, Flexion contracture, Hepatos... OMIM:309900
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Joint stiffness, Achilles tendon... ORPHA:98863
Pituitary Adenoma 4, Acth-Secreting
Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies OMIM:219090
Emanuel Syndrome
Chronic oral candidiasis, Sacral dimple, Congenital hip dislocation, Kyphosis, Recurrent sinusiti... OMIM:609029
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:98855
Hurler-Scheie Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Contracture of the distal interphalangeal joi... OMIM:607015
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges... ORPHA:420794
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity OMIM:615084
Mucolipidosis Type Ii
Hip contracture, Craniosynostosis, Limited wrist movement, Kyphosis, Splenomegaly, Limitation of ... ORPHA:576
Pigmented Nodular Adrenocortical Disease, Primary, 1
Osteopenia, Kyphosis, Osteoporosis OMIM:610489
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger ORPHA:88628
Marden-Walker Syndrome
Arachnodactyly, Short neck, Kyphosis, Radioulnar synostosis, Congenital contracture, Talipes equi... OMIM:248700
Trisomy 9P
Sacral dimple, Short neck, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly ORPHA:236
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Sandal gap, Tapered finger, Kyphosis, 2-3 toe syndactyly, Scoliosis, Clinodactyly of the 5th fing... OMIM:617061
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Developmental Malformations-Deafness-Dystonia Syndrome
Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoliosis ORPHA:79107
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Kyphosis, Elbow flexion contracture OMIM:618138
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... OMIM:269150
Lateral Meningocele Syndrome
Vertebral fusion, Short neck, Kyphosis, Sclerosis of skull base, Scoliosis, Biconcave vertebral b... OMIM:130720
Cowden Syndrome 1
Kyphosis, Thyroiditis, Decreased circulating antibody level, Scoliosis, Lymphopenia OMIM:158350
Distal Triplication 15Q
Arachnodactyly, Craniosynostosis, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Scoliosis OMIM:300676
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Joint stiffness, Achilles tendon contracture... ORPHA:98853
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Aplasia of the thymus, Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphal... OMIM:618223
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Kyphosis, Long fingers... OMIM:616914
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Postaxial polydactyly, Kyphosis, 2-3 toe syndactyly, Postaxial foot polydactyly, Scoliosis, Broad... ORPHA:404440
16Q24.3 Microdeletion Syndrome
Proximal placement of thumb, Kyphosis, Hip dysplasia, Increased mean corpuscular volume, Scoliosi... ORPHA:261250
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Microcytic anemia ORPHA:324737
Trisomy 13
Kyphosis, Postaxial hand polydactyly, Abnormal pelvic girdle bone morphology, Ectrodactyly, Scoli... ORPHA:3378
Multiple Pterygium-Malignant Hyperthermia Syndrome
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Tapered finger, Metatarsus adductus, ... ORPHA:2215
3C Syndrome
Finger syndactyly, Short neck, Kyphosis, Hemivertebrae, Hand polydactyly, Scoliosis, Abnormal hip... ORPHA:7
Harrod Syndrome
Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g... ORPHA:2115
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu valgum, Finger jo... OMIM:618493
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Joint ... ORPHA:2062
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Impaired T cell function, Hepatomegaly OMIM:201100
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Sacral dimple, Arachnodactyly, Short hallux, Kyphosis, Short thumb, Spli... ORPHA:280
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatic adenocarcinoma, Thyroiditis, Neoplasm of the gallbladder, Hepatobl... ORPHA:733
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity ORPHA:352447
Marfanoid Habitus With Situs Inversus
Kyphosis, Arachnodactyly, Hyperextensibility of the finger joints, Scoliosis OMIM:609008
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Scoliosis OMIM:607155
Alexander Disease
Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis, Infectious encephalitis ORPHA:58
Magel2-Related Prader-Willi-Like Syndrome
Osteopenia, Kyphosis, Flexion contracture, Osteoporosis, Small hand, Short foot, Hip dysplasia, S... ORPHA:398069
Stickler Syndrome
Arachnodactyly, Protrusio acetabuli, Kyphosis, Osteoarthritis, Hip dislocation, Spinal canal sten... ORPHA:828
Classic Homocystinuria
Arachnodactyly, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Genu valgum, Scoliosis ORPHA:394
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, C... OMIM:242840
Occipital Horn Syndrome
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Kyphosis, Capitate-hamate fusion,... OMIM:304150
Cockayne Syndrome Type 2
Kyphosis, Flexion contracture, Uveitis, Conjunctivitis, Scoliosis ORPHA:90322
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Cdags Syndrome
Sagittal craniosynostosis, Kyphosis, Short clavicles, Lambdoidal craniosynostosis, Coronal cranio... OMIM:603116
Basel-Vanagaite-Smirin-Yosef Syndrome
Finger syndactyly, Overlapping toe, Kyphosis, Recurrent pneumonia, Deviation of the 2nd finger, 2... ORPHA:464738
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Reduced alpha/beta synthesis ratio, Hemiver... OMIM:301040
15Q14 Microdeletion Syndrome
Kyphosis, Acne, Scoliosis ORPHA:261190
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Eczema, Kyphosis, Hip dislocation, Hip dysplasia, Scoliosis, Pro... OMIM:610443
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones, Anemia, Abnormality of the medull... OMIM:127000
Autosomal Recessive Robinow Syndrome
Finger syndactyly, Sacral dimple, Broad hallux phalanx, Toe syndactyly, Brachydactyly, Sandal gap... ORPHA:1507
Bardet-Biedl Syndrome 20
Pancreatitis OMIM:619471
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture OMIM:603387
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Severe periodontitis, Overlapping toe, Microcytic anemia, Keratitis, Leukocytosis, ... ORPHA:99843
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormal lymph node morphology, Anemia ORPHA:54251
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:99880
Jaberi-Elahi Syndrome
Joint stiffness, Kyphosis, Talipes equinovarus, Scoliosis, Hand clenching, Joint hypermobility OMIM:617988
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Chronic pancreatitis, Cholecystitis, Hepatic steatosis ORPHA:98908
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Kyphosis, Normochromic anem... OMIM:615512
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Primary hyperparathyroidism, Pancreatitis ORPHA:143
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tapered finger, Unilateral radial aplasia, Kyphosis, Partial absence of thumb, Aplasia of the 1st... ORPHA:476126
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Osteopenia, Lumbar hyperlordosis, Kyphosis, Osteoporosis, Triphalangeal thumb, Contracture of the... ORPHA:2232
Microphthalmia, Lenz Type
Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis, Abnormal shoulder morphology... ORPHA:568
Cardiofacioneurodevelopmental Syndrome
Asplenia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis ORPHA:500180
Lipodystrophy, Familial Partial, Type 7
Impaired glucose tolerance, Insulin resistance, Glucose intolerance, Recurrent pancreatitis, Type... OMIM:606721
Nephronophthisis-Like Nephropathy 1
Pancreatic cysts, Chronic pancreatitis OMIM:613159
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Kyphosis, Hip dislocation, Joint hyperflexibility, Vertebral se... ORPHA:96169
Visceral Myopathy 1
Pancreatitis OMIM:155310
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Bronchiectasis, Knee flexion contracture, Inflammation of the large intestine, Bilatera... OMIM:619708
Familial Mediterranean Fever
Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Peritonitis, Leukocytosis, Arthritis, Crohn's... OMIM:249100
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Tarsal synostosis, Eczema, Aplastic clavicle, Kyphosis, Coronal craniosynostosis ORPHA:85199
Scorpion Envenomation
Acute pancreatitis, Myocarditis, Hyperhidrosis, Glycosuria, Hyperglycemia ORPHA:466677
Noonan Syndrome 14
Short neck, Kyphosis, Clinodactyly, Lymphopenia, Limited elbow extension OMIM:619745
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Arachnodactyly ORPHA:261222
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Scoliosis OMIM:616449
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent... OMIM:619557
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Kyphosis, Scoliosis, Camptodactyly, Clinodactyly of the 5th finger, J... OMIM:617602
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Kyphoscoliosis, Generalized joint laxity, Coxa vara, Slen... ORPHA:2834
X-Linked Intellectual Disability Due To Gria3 Mutations
Joint laxity, Kyphosis, Scoliosis ORPHA:364028
X-Linked Intellectual Disability, Snyder Type
Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Slender to... ORPHA:3063
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Glycerol Kinase Deficiency
Adrenal insufficiency, Hypoglycemia, Chronic pancreatitis OMIM:307030
Wolf-Hirschhorn Syndrome
Accessory spleen, Vertebral fusion, Sacral dimple, Pseudoepiphyses of the metacarpals, Short hall... OMIM:194190
2P15P16.1 Microdeletion Syndrome
Sandal gap, Camptodactyly of finger, Tapered finger, Metatarsus adductus, Kyphosis, Scoliosis, To... ORPHA:261349
Dystonia 1, Torsion, Autosomal Dominant
Kyphosis, Multiple joint contractures, Scoliosis, Hyperlordosis OMIM:128100
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Iridocyclitis, Bronch... OMIM:181000
Robinow Syndrome, Autosomal Dominant 3
Syndactyly, Sacral dimple, Short neck, Kyphosis, Scoliosis, Mesomelia, Clinodactyly, Short phalan... OMIM:616894
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:99413
Turner Syndrome
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:881
Mosaic Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:99228
Monosomy X
Osteopenia, Short neck, Reduced bone mineral density, Gastrointestinal inflammation, Inflammation... ORPHA:99226
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Kyphosis, Flexion contracture, Scoliosis OMIM:609541
Pelizaeus-Merzbacher Disease
Kyphosis, Scoliosis, Joint stiffness ORPHA:702
Oculocerebrorenal Syndrome Of Lowe
Osteomalacia, Recurrent fractures, Joint stiffness, Kyphosis, Hip dislocation, Cheilitis, Genu va... ORPHA:534
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... OMIM:203500
Koolen-De Vries Syndrome Due To A Point Mutation
Joint laxity, Prominent fingertip pads, Sacral dimple, Anomaly of lower limb diaphyses, Arachnoda... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Joint laxity, Prominent fingertip pads, Sacral dimple, Anomaly of lower limb diaphyses, Arachnoda... ORPHA:363958
Marfan Syndrome
Osteopenia, Arthralgia/arthritis, Arachnodactyly, Protrusio acetabuli, Limited elbow movement, Ky... ORPHA:558
Myasthenic Syndrome, Congenital, 20, Presynaptic
Kyphosis, Arthrogryposis multiplex congenita, Scoliosis OMIM:617143
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis ORPHA:500055
Rett Syndrome
Short foot, Kyphosis, Scoliosis OMIM:312750
Genitopalatocardiac Syndrome
Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly ORPHA:2075
Lowe Oculocerebrorenal Syndrome
Osteomalacia, Camptodactyly of finger, Kyphosis, Rickets, Hip dislocation, Genu valgum, Platyspon... OMIM:309000
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Allergic conjunctivitis, Diabetes mellitus, Impaired T cell function OMIM:176690
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Toe syndactyly, Arachnodactyly, Eczema, Multiple joint contractures, Kyphosis, Pol... ORPHA:464306
Cowden Syndrome 5
Kyphosis, Thyroiditis, Scoliosis OMIM:615108
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Rocker bottom foot, Kyphosis, Postaxial hand polydactyly... ORPHA:521426
Orofaciodigital Syndrome Iii
Postaxial foot polydactyly, Kyphosis, Postaxial hand polydactyly, Short sternum OMIM:258850
Foxg1 Syndrome Due To 14Q12 Microdeletion
Kyphosis, Scoliosis ORPHA:261144
Cockayne Syndrome B
Kyphosis, Splenomegaly, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalan... OMIM:133540
Proteus Syndrome
Hallux valgus, Finger syndactyly, Thymus hyperplasia, Macrodactyly, Craniosynostosis, Metatarsus ... ORPHA:744
Cowden Syndrome 6
Kyphosis, Thyroiditis, Scoliosis OMIM:615109
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Absent ha... OMIM:216340
Aspartylglucosaminuria
Joint laxity, Acne, Kyphosis, Vacuolated lymphocytes, Platyspondyly, Spondylolysis, Scoliosis, Ne... OMIM:208400
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Broad distal phalanx of the toes, Kyphosis, Elbow flexion contractur... OMIM:619194
17Q11 Microdeletion Syndrome
Osteopenia, Bowing of the legs, Kyphosis, Osteoporosis, Osteolysis, Diaphyseal dysplasia, Large h... ORPHA:97685
Micro Syndrome
Kyphosis, Scoliosis, Joint stiffness ORPHA:2510
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Kyphosis, Spinal canal stenosis, Fused cervical vertebr... ORPHA:1724
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rocker bottom foot, Postaxial polydactyly, Long fingers, Kyphosis, Contractures of the large joints OMIM:617527
Autosomal Recessive Ataxia, Beauce Type
Kyphosis, Scoliosis ORPHA:88644
Brown-Vialetto-Van Laere Syndrome 1
Kyphosis, Scoliosis OMIM:211530
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Acne, Autoimmunity, Impaired T cell function, Seborrheic der... ORPHA:567
Cockayne Syndrome A
Hip contracture, Kyphosis, Splenomegaly, Limitation of joint mobility, Ivory epiphyses of the pha... OMIM:216400
Pontocerebellar Hypoplasia, Type 17
Kyphosis OMIM:619909
Postencephalitic Parkinsonism
Kyphosis, Camptocormia ORPHA:97349
Smith-Lemli-Opitz Syndrome
Finger syndactyly, Rhizomelia, Proximal placement of thumb, Short neck, Kyphosis, Postaxial hand ... ORPHA:818
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Kyphosis, Increased femoral anteversion, Scoliosis, Thrombocy... OMIM:619005
Atelis Syndrome 2
Sacral dimple, Kyphosis, Anemia, Clinodactyly, Thrombocytopenia OMIM:620185
Cowden Syndrome
Kyphosis, Bone cyst, Scoliosis, Brachydactyly ORPHA:201
Wrinkly Skin Syndrome
Osteopenia, Congenital hip dislocation, Kyphosis, Coxa vara, Slender long bone, Talipes equinovar... OMIM:278250
Zttk Syndrome
Craniosynostosis, Kyphosis, Flexion contracture, Hemivertebrae, Small hand, Short foot, Scoliosis... OMIM:617140
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Scoliosis, Flexion co... ORPHA:464311
Marden-Walker Syndrome
Arachnodactyly, Camptodactyly of finger, Joint stiffness, Metatarsus adductus, Kyphosis, Abnormal... ORPHA:2461
Multiple Endocrine Neoplasia, Type Iib
Joint laxity, Hyperlordosis, Kyphosis, Scoliosis, Proximal femoral epiphysiolysis OMIM:162300
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Abnormal pelvis bone morphology, Eczema, Camptodactyly of finger, Keratitis, Kyphos... ORPHA:2273
Velocardiofacial Syndrome
Hypoparathyroidism, Impaired T cell function OMIM:192430
Neurofibromatosis Type 1
Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Chronic myelogenous leukemia, Slende... ORPHA:636
Fucosidosis
Kyphosis, Anterior beaking of lumbar vertebrae ORPHA:349
Monosomy 9Q22.3
Short neck, Kyphosis, Joint hyperflexibility, Abnormality of the vertebral column, Polydactyly ORPHA:77301
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Joint laxity, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis OMIM:617011
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Finger syndactyly, Scoliosis, Genu varum ORPHA:1969
Alström Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Glomerulonephritis, Portal h... ORPHA:64
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Clinodactyly, Radial deviation of finger OMIM:609944
Rett Syndrome, Congenital Variant
Kyphosis, Talipes equinovarus, Scoliosis OMIM:613454
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Polydac... OMIM:300960
Mend Syndrome
Sacral dimple, Broad hallux, Overlapping toe, Kyphosis, Long fingers, 2-3 toe syndactyly, Hand po... ORPHA:401973
Williams Syndrome
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Clinodactyly of... ORPHA:904
Primrose Syndrome
Hip contracture, Joint hypermobility, Metatarsus adductus, Kyphosis, Flexion contracture, Osteopo... OMIM:259050
Viss Syndrome
Chronic gastritis, Generalized joint laxity, Increased circulating IgG level, Long toe, Joint lax... OMIM:619472
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Joint laxity, Osteomyelitis, Kyphosis, Abnormal curvature of the vertebral column, Gen... OMIM:619475
Chromosome Xq26.3 Duplication Syndrome
Kyphosis OMIM:300942
Acromegaly
Acne, Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands,... ORPHA:963
1P36 Deletion Syndrome
Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormality of the spleen, Spinal canal steno... ORPHA:1606
Cockayne Syndrome
Kyphosis, Splenomegaly, Contractures of the large joints, Keratoconjunctivitis sicca, Congenital ... ORPHA:191
Cockayne Syndrome Type 3
Splenomegaly, Kyphosis, Flexion contracture, Keratoconjunctivitis sicca, Scoliosis ORPHA:90324
Digeorge Syndrome
Hepatic steatosis, Acne, Impaired T cell function, Seborrheic dermatitis, Splenomegaly, Recurrent... OMIM:188400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitation of joint... ORPHA:457359
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Tapered finger, Abnormal toe morphology, Kyphosis, Polydactyly, 2-4... ORPHA:268261
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Tapered finger, Coxa va... OMIM:303600
Coffin-Siris Syndrome 1
Joint laxity, Sacral dimple, Sandal gap, Aplasia/Hypoplasia of the patella, Aplasia/Hypoplasia of... OMIM:135900
Somatomammotropinoma
Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Large hands, Corti... ORPHA:314769
Sotos Syndrome
Joint laxity, Sacrococcygeal teratoma, Hip contracture, Craniosynostosis, Ankle flexion contractu... ORPHA:821
Lymphedema-Distichiasis Syndrome
Kyphosis, Conjunctivitis OMIM:153400
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Joint laxity, Kyphoscoliosis, Kyphosis, Scoliosis, Synostosis of the proximal phal... OMIM:300967
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Aspiration pneumonia OMIM:619482
Cerebrocostomandibular Syndrome
Clinodactyly of the 5th finger, Kyphosis, Tracheomalacia ORPHA:1393
Ramon Syndrome
Kyphosis, Juvenile rheumatoid arthritis, Scoliosis OMIM:266270
Autosomal Recessive Spastic Paraplegia Type 35
Kyphosis ORPHA:171629
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Branchiooculofacial Syndrome
Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis, Short thumb, Preaxial hand poly... OMIM:113620

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Irak3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Irak3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A novel mouse model of conditional IRAK-M deficiency in myeloid cells: application in lung Pseudomonas aeruginosa infection. Innate immunity (December 2016) Irak3tm1c(EUCOMM)Wtsi Irak3tm1a(EUCOMM)Wtsi PMC5612436

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Irak3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Irak3tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Irak3em1(IMPC)H Exon Deletion Mice

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