Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... |
OMIM:619281 |
Hypouricemia, Renal, 1 |
|
Hyperuricosuria, Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid ... |
OMIM:220150 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... |
OMIM:614470 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... |
OMIM:616100 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Neutropenia, Lymphopenia, Decreased c... |
OMIM:618986 |
Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Renal Failure, Progressive, With Hypertension |
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Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Pseudoachondroplasia |
|
Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e... |
ORPHA:750 |
Immunodeficiency 57 With Autoinflammation |
|
Gastritis, Skin rash, Diarrhea, Inflammation of the large intestine, T lymphocytopenia, B lymphoc... |
OMIM:618108 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... |
OMIM:615285 |
Nephrotic Syndrome, Type 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis |
OMIM:614196 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Lymphoproliferative disorder, B lymphocytopenia, Thrombocytopenia, Decreased specific antibody re... |
OMIM:614700 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... |
OMIM:613101 |
Lymphoproliferative Syndrome, X-Linked, 2 |
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Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Recurrent skin infections, Splenomegaly, A... |
OMIM:300635 |
Immunodeficiency 76 |
|
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... |
OMIM:619164 |
Spondyloepiphyseal Dysplasia Tarda |
|
Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Biconcave vertebra... |
ORPHA:93284 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Thickened glomerular basement membrane, Tubulointerstiti... |
OMIM:615862 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... |
ORPHA:2869 |
Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
Visceral Myopathy 2 |
|
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... |
OMIM:619350 |
Severe Combined Immunodeficiency, X-Linked |
|
Decreased circulating IgA level, Hepatomegaly, Chronic oral candidiasis, Skin rash, Decreased cir... |
OMIM:300400 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Eczema, Monocytosis, Leukopenia, Lymphoma, Myelodysplasia, Refractory anemia, Bone marrow hypocel... |
OMIM:616871 |
Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Skin rash, Abnormally low T cell receptor excisio... |
OMIM:619374 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Intestinal bleeding, Anal canal squamou... |
ORPHA:424019 |
Dysspondyloenchondromatosis |
|
Enlarged joints, Vertebral segmentation defect, Kyphoscoliosis, Joint dislocation, Generalized jo... |
ORPHA:85198 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Volvulus Of Midgut |
|
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... |
OMIM:193250 |
Interstitial Nephritis, Karyomegalic |
|
Nephronophthisis, Glycosuria, Hematuria, Tubulointerstitial nephritis, Proteinuria, Stage 5 chron... |
OMIM:614817 |
Liebenberg Syndrome |
|
Radially deviated wrists, Metaphyseal widening, 2-3 finger syndactyly, Brachydactyly, Joint contr... |
OMIM:186550 |
Tubulointerstitial Nephritis With Uveitis |
|
Panuveitis, Anterior uveitis, Reversible renal failure, Uveitis, Glomerulonephritis, Acute tubulo... |
OMIM:607665 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Platyspondyly, Arthralgia of the hip, Difficulty walking, Hip subluxation, Dysplasia of the femor... |
ORPHA:99642 |
Mueller-Weiss Syndrome |
|
Joint stiffness, Sclerosis of foot bone, Joint subluxation, Limitation of movement at ankles, Fra... |
ORPHA:566943 |
Chondrocalcinosis Due To Apatite Crystal Deposition |
|
Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila... |
OMIM:118610 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Short metacarpal, Osteoarthritis, Platyspondyly, Micromelia, Synostosis of carpal bone... |
ORPHA:93351 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis |
OMIM:619398 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, D... |
ORPHA:166011 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... |
OMIM:619802 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Nephronophthisis 1 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Hyposthenuria, Tubulointerstitial fibrosis, Tu... |
OMIM:256100 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Abdominal pain, Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Radial Hemimelia |
|
Abnormality of the scaphoid, Abnormality of the trapezium, Deviation of the hand or of fingers of... |
ORPHA:93321 |
Medullary cystic kidney disease 2 |
|
Renal tubular atrophy, Multiple renal cysts, Gout, Tubulointerstitial nephritis, Multiple small m... |
OMIM:603860 |
Diastrophic Dysplasia |
|
Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Talipes equinovarus, Hy... |
OMIM:222600 |
Brachydactylous Dwarfism, Mseleni Type |
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Short toe, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Platyspondyly, Abnormality... |
ORPHA:2619 |
Autoimmune Lymphoproliferative Syndrome |
|
Abnormal proportion of CD8-positive T cells, Gastritis, Hepatomegaly, Non-Hodgkin lymphoma, Hyper... |
ORPHA:3261 |
Solitary Rectal Ulcer Syndrome |
|
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... |
ORPHA:209964 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Abnormal tubulointerstitial morphology, Chronic kidney disease, Nephropathy |
OMIM:602114 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal tubular atrophy, Decreased glomerular filtration rate, Impaired renal uric acid clearance, ... |
OMIM:174000 |
Immunodeficiency 60 And Autoimmunity |
|
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Decre... |
OMIM:618394 |
Metatropic Dysplasia |
|
Enlarged joints, Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the ... |
OMIM:156530 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification... |
ORPHA:2114 |
Trehalase Deficiency |
|
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting |
ORPHA:103909 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Chronic gastritis, Colitis, Decreased circulating IgG level, Eczema, Diarrhea, Inflammation of th... |
OMIM:608809 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... |
OMIM:617006 |
Pseudoachondroplasia |
|
Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma... |
OMIM:177170 |
Hirschsprung Disease |
|
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... |
ORPHA:388 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy... |
OMIM:271650 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged metacarpophalangeal joints, Platyspondyly, Difficulty walking, Sclerotic vertebral endpl... |
OMIM:208230 |
Immunodeficiency 70 |
|
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... |
OMIM:618969 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:613944 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Difficulty walking, Prem... |
ORPHA:93314 |
Epiphyseal Dysplasia, Multiple, 1 |
|
Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff... |
OMIM:132400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Type I diabetes mellitus, Pneumonia, Mala... |
ORPHA:37042 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger... |
ORPHA:93308 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent skin infections, Recurrent sinusitis, Decreased circulating antibody level, Recurrent p... |
OMIM:616576 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Eczema, Lymphadenitis, Hepatos... |
OMIM:618935 |
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly |
|
Radially deviated wrists, Coxa vara, Reduced arm span, Osteoarthritis, Abnormality of the epiphys... |
ORPHA:166002 |
Desbuquois Dysplasia 1 |
|
Radial deviation of the 2nd finger, Short 1st metacarpal, Monkey wrench femoral neck, Short neck,... |
OMIM:251450 |
Brachyolmia Type 1, Hobaek Type |
|
Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Short ... |
OMIM:271530 |
Osteochondrosis Of The Metatarsal Bone |
|
Abnormality of the third metatarsal bone, Progressive joint destruction, Joint stiffness, Thicken... |
ORPHA:564003 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Feeding difficulties, Hypoplasia of the thymus, Eczema, Decreased proportion of CD8-positive T ce... |
OMIM:617241 |
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification |
|
Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b... |
OMIM:182255 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Epiphyseal Dysplasia, Multiple, 6 |
|
Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,... |
OMIM:614135 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
High palate, Cleft palate, Genu valgum, Small epiphyses, Thoracic hypoplasia, Short long bone, Ad... |
OMIM:618363 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P... |
ORPHA:911 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Irregular capital femoral epiphysis, Broa... |
OMIM:609052 |
Craniosynostosis, Adelaide Type |
|
Cone-shaped epiphyses of the toes, Carpal bone malsegmentation, Cone-shaped epiphyses of the phal... |
OMIM:600593 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... |
OMIM:300853 |
Hypochondroplasia |
|
Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Brachydactyly,... |
ORPHA:429 |
Nephronophthisis 4 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal corticomedu... |
OMIM:606966 |
Osteochondrosis Of The Tarsal Bone |
|
Chondritis, Antalgic gait, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Flattening of ... |
ORPHA:563991 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Bilateral single transverse palmar creases, Brachydactyly, Abnormality of the ankles, Scoliosis, ... |
ORPHA:968 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Nephronophthisis 3 |
|
Renal tubular atrophy, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Renal insufficien... |
OMIM:604387 |
Diarrhea 8, Secretory Sodium, Congenital |
|
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium |
OMIM:616868 |
Chronic Diarrhea Due To Glucoamylase Deficiency |
|
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... |
ORPHA:103907 |
Mesomelic Dysplasia, Kantaputra Type |
|
Vertebral segmentation defect, Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormali... |
ORPHA:1836 |
Hereditary Mixed Polyposis Syndrome |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Hyperplastic colonic po... |
ORPHA:157794 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Immunodeficiency, Common Variable, 11 |
|
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... |
OMIM:615767 |
Adult Idiopathic Neutropenia |
|
Lymphopenia, Monocytosis, Helicobacter pylori infection, Recurrent aphthous stomatitis, Increased... |
ORPHA:2688 |
Desmoid Tumor |
|
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polypo... |
ORPHA:873 |
Widow'S Peak Syndrome |
|
Kyphosis, Recurrent patellar dislocation, Abnormality of the hand, High iliac wing, Arthralgia of... |
OMIM:314570 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Hepatosplenomegaly, Sterile abscess, Arthritis, Pancytopenia, Thrombocytosi... |
OMIM:604416 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Skin rash, Glomerular C3 deposition, Arthritis, Serositis, Abnormal glomerula... |
ORPHA:567544 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... |
OMIM:266600 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, T-cell lymphoma, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, En... |
OMIM:243150 |
Immunodeficiency 37 |
|
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Decreased circu... |
OMIM:616098 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Recurrent skin infections, Extramedullary hematopoiesis... |
OMIM:612840 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... |
OMIM:607594 |
Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Premature graying of hair, Constipation, Abdominal pain, Hypopigment... |
ORPHA:897 |
Immunodeficiency 24 |
|
Lymphopenia, Decreased circulating IgG level, Defective T cell proliferation, Lymphoproliferative... |
OMIM:615897 |
Colonic Atresia |
|
Abdominal distention, Colonic atresia |
OMIM:303650 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
High palate, Cleft palate, Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Abnormal e... |
ORPHA:93359 |
Autoinflammation With Infantile Enterocolitis |
|
Enterocolitis, Skin rash, Splenomegaly, Episodic vomiting, Reduced natural killer cell activity, ... |
OMIM:616050 |
Langer Mesomelic Dysplasia |
|
Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... |
ORPHA:2632 |
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans |
|
Lumbar hyperlordosis, Osteoarthritis, Brachydactyly, Hip osteoarthritis, Broad hallux, Osteochond... |
OMIM:165800 |
Gastrointestinal Stromal Tumor |
|
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... |
ORPHA:44890 |
Caspase 8 Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95-induced lymphocyte... |
OMIM:607271 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Cone-shaped epiphyses of the phalange... |
OMIM:609616 |
Epiphyseal Dysplasia, Multiple, 2 |
|
Broad-based gait, Epiphyseal dysplasia, Irregular epiphyses, Genu varum, Flattened epiphysis, Ost... |
OMIM:600204 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Immunodeficiency 82 With Systemic Inflammation |
|
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Decreased proportion of naive T cell... |
OMIM:619381 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... |
ORPHA:454840 |
Muir-Torre Syndrome |
|
Malignant genitourinary tract tumor, Laryngeal carcinoma, Ovarian neoplasm, Benign gastrointestin... |
OMIM:158320 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Vertebral segmentation defect, Rib fusion, Kyphosis, Supernumerary vertebral ossification centers... |
OMIM:609813 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Epiphyseal dysplasia, Advanced ossification of carpal bones, Monkey wrench femoral neck, Platyspo... |
OMIM:617719 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Maculopapular exanthema, Hep... |
OMIM:619644 |
Ménétrier Disease |
|
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... |
ORPHA:2494 |
Epiphyseal Dysplasia, Multiple, 5 |
|
Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ... |
OMIM:607078 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Elevated circulating creatinine concentration, Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t... |
OMIM:127300 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Tracheoesophageal fistula, Neoplasm of the lung, Gingival fibromatosis,... |
ORPHA:2591 |
Shwachman-Diamond Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Eczema, Aplastic anemia, Macrocytic... |
ORPHA:811 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Elevated c... |
OMIM:614723 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Periodontitis, Lymphopenia, Recurrent infection of the gastrointestinal tract, Abdominal pain, Re... |
ORPHA:486 |
Mixed Connective Tissue Disease |
|
Gastritis, Hepatomegaly, Skin rash, Splenomegaly, Gastroesophageal reflux, Leukopenia, Xerostomia... |
ORPHA:809 |
Fanconi Renotubular Syndrome 5 |
|
Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:618913 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Cone-shaped epiphyses of the phalanges of the hand, Halberd-shaped pelvis, Platy... |
OMIM:184252 |
Ganglioneuroma |
|
Episodic abdominal pain, Ganglioneuroma, Neoplasm of the adrenal gland, Multiple intestinal neuro... |
ORPHA:251992 |
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations |
|
Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of... |
ORPHA:93360 |
Osteoarthritis With Mild Chondrodysplasia |
|
Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Platyspondyly, Hip o... |
OMIM:604864 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Pancreatitis, Hepatomegaly, Feeding difficulties, Splenomegaly, Abdominal pain, Anorexia, Neutrop... |
ORPHA:79312 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Sinusitis, Inflammatory abnormality of the skin, Lymphopenia, Diarrhea, ... |
ORPHA:277 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... |
ORPHA:26790 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Autoimmune Polyendocrinopathy Type 3 |
|
Thymoma, Iridocyclitis, Graves disease, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Aut... |
ORPHA:227982 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Brachydactyly, Scoliosis, Abnormal form ... |
ORPHA:40 |
Sjogren Syndrome |
|
Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca |
OMIM:270150 |
Autoimmune Polyendocrinopathy Type 4 |
|
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Leukopenia, Xerosto... |
ORPHA:227990 |
Immunodeficiency, Common Variable, 2 |
|
Neoplasm, Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenom... |
OMIM:240500 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis |
ORPHA:401911 |
Nephronophthisis-Like Nephropathy 2 |
|
Polyuria, Elevated circulating creatinine concentration, Periglomerular fibrosis, Renal insuffici... |
OMIM:619468 |
Familial Calcium Pyrophosphate Deposition |
|
Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of... |
ORPHA:1416 |
Epiphyseal Dysplasia, Multiple, 3 |
|
Epiphyseal dysplasia, Delayed epiphyseal ossification, Short metacarpal, Osteoarthritis, Irregula... |
OMIM:600969 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Abnormal metaphysis morphology, Irregular ... |
ORPHA:93316 |
Scheuermann Disease |
|
Kyphosis, Osteochondrosis, Morbus Scheuermann |
OMIM:181440 |
Familial Avascular Necrosis Of Femoral Head |
|
Flattened femoral head, Abnormal femoral neck/head morphology, Hip osteoarthritis, Limited hip mo... |
ORPHA:86820 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... |
OMIM:619079 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip dislocation, Joint l... |
OMIM:130060 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Failure to thrive, Kyphoscoliosis, Small for gestational age, Arthrogryposis multiplex congenita,... |
OMIM:212540 |
Dyggve-Melchior-Clausen Disease |
|
Broad carpal bones, Short neck, Abnormality of the ankles, Hypoplasia of the capital femoral epip... |
ORPHA:239 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Pectus excavatum, Tapered finger, Foot joint contracture, Talipes eq... |
ORPHA:536516 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... |
OMIM:161950 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Narrow chest, Acetabular spurs, Short ribs, Trident acetabulum, Brachydactyly, Postaxial hand pol... |
OMIM:617405 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Acropectorovertebral Dysplasia |
|
Finger syndactyly, Radial deviation of the 2nd finger, Synostosis of carpal bones, Spina bifida o... |
OMIM:102510 |
Multiple Epiphyseal Dysplasia Type 4 |
|
High palate, Short metacarpal, Cleft palate, Arthralgia of the hip, Abnormal hand morphology, Upp... |
ORPHA:93307 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Severe B lymphocytopenia, Dia... |
OMIM:603554 |
Juvenile Polyposis Syndrome |
|
Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcinoma, Diarrhea, Hema... |
OMIM:174900 |
Congenital Sucrase-Isomaltase Deficiency |
|
Diarrhea, Abdominal distention, Vomiting, Abdominal colic |
ORPHA:35122 |
Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Genu valgum, Bowing of the long bones |
OMIM:168400 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, External genital hypoplasia, Lumbar kyphosis in infancy, Unsteady gait, Hypogonadism... |
ORPHA:3041 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Immunodeficiency 104 |
|
Hepatomegaly, Gastroesophageal reflux, Otitis media, Splenomegaly, Eczema, Diarrhea, T lymphocyto... |
OMIM:608971 |
Primary Myelofibrosis |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hemangioma, Hepatosplenom... |
ORPHA:824 |
Cyclic Neutropenia |
|
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Recurrent skin infections, ... |
ORPHA:2686 |
Senior-Loken Syndrome 1 |
|
Impaired renal concentrating ability, Nephronophthisis, Polyuria, Tubulointerstitial fibrosis, Th... |
OMIM:266900 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, Myocarditis, B lymp... |
ORPHA:2442 |
Desmoid Disease, Hereditary |
|
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma |
OMIM:135290 |
Atresia Of Small Intestine |
|
Abdominal distention, Feeding difficulties, Intestinal malrotation, Vomiting, Intestinal hypoplas... |
ORPHA:1201 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Pectus excavatum, Cleft palate, Congenital hip dislocation, Down-sloping shoulders, ... |
OMIM:114300 |
Alport Syndrome |
|
Nephrotic syndrome, Renal glomerular foam cells, Mesangial hypercellularity, Nephritis, Thickenin... |
ORPHA:63 |
Kyphomelic Dysplasia |
|
Narrow chest, Undulate ribs, Anterior rib cupping, Micromelia, Abnormal form of the vertebral bod... |
ORPHA:1801 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ... |
OMIM:602111 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Periodontitis, Neutrophilia, Pneumonia, Recurrent otitis media, Reduction of neutrophil motility |
OMIM:266265 |
Beukes Hip Dysplasia |
|
Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu... |
OMIM:142669 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Osteoarthritis, Platyspondyly, Micromelia, Abnormal epiphysis morphology, Short thorax |
ORPHA:93283 |
Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly, Flared f... |
ORPHA:1427 |
Bare Lymphocyte Syndrome, Type Ii |
|
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogammaglobulinemia, Vil... |
OMIM:209920 |
Crome Syndrome |
|
Renal tubular epithelial necrosis |
OMIM:218900 |
Nephrotic Syndrome, Type 10 |
|
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... |
OMIM:615861 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... |
ORPHA:247806 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Brachydactyly, Kyphosis, Delayed ossification of carpal bones, Pectus carinatum |
OMIM:618392 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphoproliferative disorder, Diarrhea, Pneumonia, Jaundice, Decreased proportion o... |
ORPHA:276 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Failure to thrive, Kyphoscoliosis, Elbow ankylosis, Short neck, Abnormal ... |
ORPHA:96183 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ... |
ORPHA:174 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Abnormality of the vertebral column, Palmoplantar keratoderma, Abnormal pelvis bo... |
ORPHA:2206 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Colitis, Hepatomegaly, Cholestatic liver disease, Skin rash, Hemophagoc... |
ORPHA:540 |
Dyggve-Melchior-Clausen Disease |
|
Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha... |
OMIM:223800 |
Zygomycosis |
|
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... |
ORPHA:73263 |
Heart Defects-Limb Shortening Syndrome |
|
Narrow chest, Kyphosis, Mesomelic/rhizomelic limb shortening, Abnormal form of the vertebral bodi... |
ORPHA:1354 |
Burkitt Lymphoma |
|
Abdominal pain, Intestinal obstruction, Neoplasm of the oral cavity, Gastrointestinal hemorrhage,... |
ORPHA:543 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Iridocyclitis, Chronic active hepatitis, Chronic oral candidi... |
OMIM:240300 |
Nemaline Myopathy 7 |
|
High palate, Kyphoscoliosis, Lumbar hyperlordosis, Genu recurvatum, Gait disturbance, Waddling ga... |
OMIM:610687 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, Tip-toe gait, Knee flexion contracture, Tongue atrophy, Dysp... |
ORPHA:496689 |
Mismatch Repair Cancer Syndrome 1 |
|
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... |
OMIM:276300 |
Syndromic Diarrhea |
|
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Hepatomegaly, Splenomegaly, Lymphopenia, Cir... |
ORPHA:84064 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Gait disturbance, Cubitus valgus, Decreased testicular size, Hypogonadism, Abnormality ... |
ORPHA:1875 |
Platyspondylic Dysplasia, Torrance Type |
|
Narrow chest, Short distal phalanx of finger, Metaphyseal cupping, Platyspondyly, Micromelia, Hyp... |
ORPHA:85166 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Joint stiffness, Multiple small vertebral fractures, Decreased hip abduction, Back pain, Osteoart... |
ORPHA:93311 |
Diarrhea 12, With Microvillus Atrophy |
|
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... |
OMIM:619445 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Neuroendocrine Neoplasm Of Appendix |
|
Bowel urgency, Ovarian neoplasm, Constipation, Episodic abdominal pain, Hypoactive bowel sounds, ... |
ORPHA:100079 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Flattened metacarpal heads, Osteoarthritis, Flattened metatarsal heads, Platyspondyly, Hip osteoa... |
OMIM:271600 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... |
ORPHA:79501 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... |
ORPHA:183675 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Abdominal distention, Enterocolitis, Constipation, Vomiting, Abnormality of enteric ganglion morp... |
OMIM:142623 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Camptodactyly of f... |
ORPHA:2635 |
Axial Spondylometaphyseal Dysplasia |
|
Platyspondyly, Upper limb undergrowth, Flared, irregular rib ends, Thoracic hypoplasia, Narrow gr... |
ORPHA:168549 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease |
OMIM:616629 |
Intestinal Dysmotility Syndrome |
|
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... |
OMIM:620045 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B... |
OMIM:619313 |
Winchester Syndrome |
|
Broad metacarpals, Kyphosis, Carpal osteolysis, Arthropathy, Osteolysis involving tarsal bones |
OMIM:277950 |
Brachyolmia Type 1, Toledo Type |
|
Precocious costochondral ossification, Irregular vertebral endplates, Kyphoscoliosis, Squared-off... |
OMIM:271630 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Thrombocytopenia |
OMIM:616744 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Irregular vertebral endplates, Bowing of the legs, Kyphoscoliosis, Platyspondyly, Brachydactyly, ... |
OMIM:612847 |
Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, B-cell lymphoma, Decreased circulating... |
OMIM:618534 |
Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Elevated circulating C-reactive protein concentration, Increased blo... |
ORPHA:49041 |
Systemic Lupus Erythematosus 16 |
|
Nephritis |
OMIM:614420 |
Peritoneal Cystic Mesothelioma |
|
Neoplasm, Constipation, Dyspareunia, Abdominal distention, Metrorrhagia, Abdominal pain, Peritoni... |
ORPHA:168816 |
Progressive Osseous Heteroplasia |
|
Osteoarthritis, Abnormality of the parathyroid gland, Brachydactyly, Ectopic ossification in musc... |
ORPHA:2762 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation... |
OMIM:618395 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... |
OMIM:209950 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Lymphopenia, Splenomegaly, Otitis media, Aplasia of the thymus, Eosinophilia, Abnor... |
OMIM:602450 |
Osteoarthritis Susceptibility 3 |
|
Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit... |
OMIM:607850 |
Neutrophilia, Hereditary |
|
Myelodysplasia, Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Severe Canavan Disease |
|
Gastroesophageal reflux, Feeding difficulties, Poor suck, Vomiting, Nasogastric tube feeding, Gas... |
ORPHA:314911 |
Kienbock Disease |
|
Abnormality of the wrist, Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans |
ORPHA:97332 |
Adenocarcinoma Of The Anal Canal |
|
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Abdominal pain, Anal canal ad... |
ORPHA:424016 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse, Bowel incontinence |
OMIM:176780 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal ery... |
ORPHA:2575 |
Carpenter Syndrome |
|
Kyphoscoliosis, Talipes equinovarus, External genital hypoplasia, Craniosynostosis, Brachydactyly... |
ORPHA:65759 |
Gastrointestinal Stromal Tumor |
|
Constipation, Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas, Dysphagia |
OMIM:606764 |
Legg-Calvé-Perthes Disease |
|
Cartilage destruction, Joint dislocation |
ORPHA:2380 |
Holt-Oram Syndrome |
|
Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla... |
OMIM:142900 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Kyphosis, Clinodactyly of the 5th finger, Camptodactyly, Short thumb |
OMIM:618453 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Irregular vertebral endplates, Lumbar hyperlordosis, Flat capital femoral epiphysis, Platyspondyl... |
OMIM:609223 |
Pauci-Immune Glomerulonephritis |
|
Small vessel vasculitis, Pancreatitis, Nephrotic range proteinuria, Decreased glomerular filtrati... |
ORPHA:93126 |
Immunodeficiency 105 |
|
B-cell lymphoma, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, S... |
OMIM:619924 |
Léri-Weill Dyschondrosteosis |
|
Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn... |
ORPHA:240 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Angel-Shaped Phalangoepiphyseal Dysplasia |
|
Delayed ossification of carpal bones, Hyperextensibility of the finger joints, Hip osteoarthritis... |
OMIM:105835 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Roussy-Lévy Syndrome |
|
Urinary bladder sphincter dysfunction, Intrinsic hand muscle atrophy, Kyphoscoliosis, Talipes equ... |
ORPHA:3115 |
Cap Polyposis |
|
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... |
ORPHA:160148 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Flexion contracture of finger, Talipes equinovarus, Flexion contracture... |
OMIM:618484 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por... |
OMIM:313400 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... |
OMIM:615190 |
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization |
|
Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits |
ORPHA:69063 |
Cranio-Osteoarthropathy |
|
Joint swelling, Joint stiffness, Osteoarthritis, Eczema, Abnormality of tibia morphology, Arthrit... |
ORPHA:1525 |
Osebold-Remondini Syndrome |
|
Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short... |
OMIM:112910 |
Malignant Peritoneal Mesothelioma |
|
Ileus, Neoplasm, Abdominal distention, Abdominal pain, Peritonitis |
ORPHA:168811 |
Schwartz-Jampel Syndrome, Type 1 |
|
High palate, Congenital hip dislocation, Micromelia, Short neck, Pectus carinatum, Platyspondyly,... |
OMIM:255800 |
Eng-Strom Syndrome |
|
Pectus excavatum, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis |
ORPHA:1937 |
Early Myoclonic Encephalopathy |
|
Dysphagia, Feeding difficulties, Lethargy, Poor suck |
ORPHA:1935 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Peripheral Dysostosis |
|
Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing... |
ORPHA:1795 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Immunodeficiency 61 |
|
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Agammaglobulinemia, Recurrent sin... |
OMIM:300310 |
Developmental Dysplasia Of The Hip 2 |
|
Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis |
OMIM:615612 |
Congenital Pancreatic Cyst |
|
Abdominal distention, Pancreatitis, Abdominal pain, Anorexia, Vomiting, Jaundice |
ORPHA:313906 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Pectus excavatum, Cleft palate, Glossoptosis, Osteoarthritis, Pectus carinatum, Abnormal metacarp... |
ORPHA:166100 |
Arthritis, Sacroiliac |
|
Pruritus, Sacroiliac arthritis |
OMIM:108100 |
Congenital Short Bowel Syndrome |
|
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... |
OMIM:615237 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Acromesomelic Dysplasia 2C |
|
Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr... |
OMIM:201250 |
Blue Rubber Bleb Nevus |
|
Intestinal bleeding, Intussusception, Hemangioma, Rectal prolapse, Cerebellar medulloblastoma, Vo... |
OMIM:112200 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Dysphagia, Kyphoscoliosis, Pancreatitis |
OMIM:618230 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Kyphoscoliosis, Dysmetria, Flexion contracture, Ankle clonus, Brachydactyly, Camptodactyly, Hamme... |
OMIM:275900 |
Carney-Stratakis Syndrome |
|
Abdominal pain, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, ... |
ORPHA:97286 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Chronic gastritis, Colitis, Lymphocytosis, Skin rash, Abdominal pain, Diarrhea, Inflammation of t... |
OMIM:301074 |
Scholte Syndrome |
|
Kyphoscoliosis, Micropenis, Small hand, Acromicria, Short foot, Decreased testicular size, Patell... |
OMIM:300977 |
Familial Adenomatous Polyposis 1 |
|
Adenomatous colonic polyposis, Medulloblastoma, Multiple gastric polyps, Hepatoblastoma, Fibroade... |
OMIM:175100 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Epiphyseal dysplasia, Cleft palate, Platyspondyly, Premature osteoarthritis, Enlarged epiphyses |
OMIM:184840 |
Dysplasia Epiphysealis Hemimelica |
|
Abnormality of femur morphology, Flattened femoral head, Joint stiffness, Abnormal femoral neck m... |
ORPHA:1822 |
Jeune Syndrome |
|
Narrow chest, Abnormal sternum morphology, Abnormal clavicle morphology, Cone-shaped epiphysis, M... |
ORPHA:474 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Elevated circulating creatine k... |
ORPHA:157 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Tubulointerstitial fibrosis, Enlarged kidney, ... |
OMIM:263200 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Elevated circul... |
ORPHA:228308 |
Primary Peritoneal Carcinoma |
|
Neoplasm, Abdominal distention, Constipation, Abdominal pain, Peritonitis, Nausea and vomiting |
ORPHA:168829 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Membran... |
OMIM:619858 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Short 1st metacarpal, Hip osteoarthritis, Short middle phalanx of finger, Abnormal epiphysis morp... |
ORPHA:63442 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tubulointerstitial fibrosis |
OMIM:263000 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Nephrotic syndrome, Renal tubular atrophy, Decreased glomerular filtration rate, Renal interstiti... |
ORPHA:85450 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
|
Dysuria, Hyperuricosuria, Macroscopic hematuria, Nephropathy, Elevated circulating creatinine con... |
ORPHA:79233 |
Complement Component C1R/C1S Deficiency |
|
Discoid lupus rash, Nephritis, Arthritis |
OMIM:216950 |
Radiation Proctitis |
|
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... |
ORPHA:70475 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Feeding difficulties, 4-layered lissencephaly, Abnormality of neuronal migration, Hypoplastic spl... |
ORPHA:89844 |
Immunodeficiency 50 |
|
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia |
OMIM:300988 |
Stickler Syndrome, Type I |
|
Kyphosis, Beaking of vertebral bodies, Pectus excavatum, Spondylolisthesis, Joint stiffness, Clef... |
OMIM:108300 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Cleft palate, Micromelia, Symphalangism affecting the phalanges of ... |
ORPHA:628 |
Immunodeficiency 52 |
|
Lymphopenia, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Splen... |
OMIM:617514 |
Thoracolaryngopelvic Dysplasia |
|
Irregular vertebral endplates, Irregular chondrocostal junctions, Short ribs, Metaphyseal widenin... |
OMIM:187760 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Skin rash, Recurrent intrapulmonary hemorrhage, Endocarditis, Hematuria, Myocarditis, ... |
ORPHA:183 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Cervical C2/C3 vertebral fusion, High palate, Thoracic scoliosis, Knee dislocation, Generalized j... |
OMIM:618000 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Diarrhea,... |
ORPHA:549 |
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome |
|
Crohn's disease, Increased circulating antibody level, Pustule, Myositis, Arthritis, Increased in... |
ORPHA:69126 |
Dermatoosteolysis, Kirghizian Type |
|
Keratitis, Abnormality of the hand, Osteoarthritis, Brachydactyly, Scoliosis, Abnormality of the ... |
ORPHA:1657 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, St... |
OMIM:616583 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... |
OMIM:175200 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Bowing of the legs, Metaphyseal dysplasia, Delayed ossification of carpal bones, Platyspondyly, G... |
OMIM:617974 |
Renal Tubular Acidosis, Distal, 1 |
|
Nephrolithiasis, Hypokalemia, Hypocalcemia, Distal renal tubular acidosis, Elevated circulating c... |
OMIM:179800 |
Osteogenesis Imperfecta, Type Xiii |
|
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Increased bone mineral density, Ar... |
OMIM:614856 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Nephrotic syndrome, Pustule, Skin rash, Interstitial pneumonitis, Myocarditis, Tubulointerstitial... |
ORPHA:139402 |
Mirage Syndrome |
|
Adrenal insufficiency, Lymphopenia, Gastroesophageal reflux, Cryptorchidism, Aspiration pneumonia... |
OMIM:617053 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Nausea and vomiting |
ORPHA:289916 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... |
ORPHA:447877 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Abnormality of the ankles, Finger dactylitis, Knee osteoarthritis, Enthesitis, Oligoarthritis, Ba... |
ORPHA:85438 |
Isolated Polycystic Liver Disease |
|
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... |
ORPHA:2924 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Malabsorption, Constipation, Abdominal distention, Abdominal pain, Malnutrition, Intestinal pseud... |
OMIM:613662 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Kyphoscoliosis, High, narrow palate, Atlantoaxial abnormality, Broad hallux, Hypermobility of int... |
ORPHA:3433 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem... |
ORPHA:93352 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Pancreatitis, Lymphopenia, Abdominal distention, Lymphoproliferative disord... |
ORPHA:1830 |
Chst3-Related Skeletal Dysplasia |
|
Enlarged joints, Kyphoscoliosis, Flexion contracture, Barrel-shaped chest, Irregular epiphyses, B... |
ORPHA:263463 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Abdominal distention, Abdominal pain, Neoplasm... |
ORPHA:83469 |
Endosteal Hyperostosis, Worth Type |
|
Clavicular sclerosis, Abnormal form of the vertebral bodies, Abnormal rib morphology, Sclerotic v... |
ORPHA:2790 |
Autosomal Dominant Brachyolmia |
|
Kyphoscoliosis, Increased vertebral height, Platyspondyly, Short thorax, Abnormal metaphysis morp... |
ORPHA:93304 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... |
OMIM:603909 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Streaky metaphyseal sclerosis, Congenital hip dislocation, Hypoplasia of the capital femoral epip... |
OMIM:603546 |
Adiposis Dolorosa |
|
Abdominal distention, Painful subcutaneous lipomas, Constipation |
OMIM:103200 |
Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... |
ORPHA:220460 |
Griscelli Syndrome, Type 2 |
|
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis |
OMIM:607624 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Enlarged joints, Epiphyseal dysplasia, Beaking of vertebral bodies, Lumbar hyperlordosis, Short m... |
OMIM:215150 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha... |
ORPHA:457395 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Coxa vara, Platyspondyly, Micromelia, Short palm, Flared, irregular rib ends |
ORPHA:168555 |
Masp2 Deficiency |
|
Recurrent pneumonia, Ulcerative colitis |
OMIM:613791 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Bowing of the legs, Pectus excavatum, Metaphyseal spurs, Dysplastic iliac wing, Short long bone, ... |
OMIM:608728 |
Candidiasis, Familial, 1 |
|
Abnormality of the endocrine system, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Holoprosencephaly, Recurrent Infections, And Monocytosis |
|
Cryptorchidism, Monocytosis, Recurrent skin infections |
OMIM:610680 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Anorexia, Lethargy |
ORPHA:79283 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphoma, Arthritis, Increased circulating I... |
ORPHA:37748 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
High palate, Ataxia, Kyphoscoliosis, Flexion contracture, Small hand, Short neck, Scoliosis, Wris... |
OMIM:300055 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
High palate, Dislocated radial head, Irregular vertebral endplates, Kyphoscoliosis, Flat capital ... |
OMIM:612350 |
Albers-Schönberg Osteopetrosis |
|
Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Joi... |
ORPHA:53 |
Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Abnormal renal tubule morphology, Multiple glomerular cysts, Renal insufficiency, Hyperuricemia |
OMIM:609886 |
Inflammatory Bowel Disease 29 |
|
Crohn's disease, Ulcerative colitis |
OMIM:618077 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Sinusitis, Neutropenia in presence of ... |
OMIM:613179 |
Immunodeficiency 72 With Autoinflammation |
|
Herpes simplex encephalitis, Hepatosplenomegaly, Increased circulating IgG level, Increased B cel... |
OMIM:618982 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Short distal phalanx of finger, Kyphosis, Brachydactyly, Scoliosis, Hypoplastic iliac wing, Incre... |
ORPHA:1858 |
Whistling Face Syndrome, Recessive Form |
|
High palate, Kyphoscoliosis, Talipes equinovarus, Short neck, Ulnar deviation of finger, Camptoda... |
OMIM:277720 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Increased circulating antibody lev... |
OMIM:615846 |
Otopalatodigital Syndrome, Type I |
|
Pectus excavatum, Short 3rd metacarpal, Broad hallux, Sandal gap, Delayed closure of the anterior... |
OMIM:311300 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Ab... |
OMIM:608184 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating IgA level, Enterocolitis, Interstitial pneumonitis, Decreased circulating t... |
OMIM:614878 |
Ebola Hemorrhagic Fever |
|
Melena, Increased circulating antibody level, Lymphopenia, Abdominal pain, Maculopapular exanthem... |
ORPHA:319218 |
Syndactyly, Type V |
|
Short distal phalanx of finger, Carpal synostosis, 3-4 toe syndactyly, Joint contracture of the h... |
OMIM:186300 |
Cryoglobulinemia, Familial Mixed |
|
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Dystonia 31 |
|
Dysphagia, Abnormal posturing |
OMIM:619565 |
Arthrogryposis, Distal, Type 1A |
|
Congenital hip dislocation, Single transverse palmar crease, Rocker bottom foot, Calcaneovalgus d... |
OMIM:108120 |
Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Crohn's disease, Colitis, Enterocolitis, Folliculitis, Pyoderma, Hematochezia, Perianal abscess |
OMIM:613148 |
Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Periodontitis, Neutropenia |
OMIM:162700 |
Laron Syndrome |
|
Short toe, Hypoplasia of penis, Osteoarthritis, Brachydactyly, Truncal obesity, Abnormality of th... |
ORPHA:633 |
Autoimmune Hepatitis |
|
Increased circulating antibody level, Viral hepatitis, Abdominal pain, Splenomegaly, Cirrhosis, F... |
ORPHA:2137 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy |
OMIM:614582 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Ulnar deviation of the hand or ... |
OMIM:612079 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Coxa vara, Hypoplasia of proximal radius, Metaphyseal dysplasia, Kyphoscoliosis, Lumbar hyperlord... |
OMIM:184253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Abnormality of the hand, Ankle flexion contracture, Kyphoscoliosis |
OMIM:616668 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Diarrhea, Agammaglobulinemia, Neutropenia, Recurrent otitis media |
OMIM:613501 |
Say-Barber-Miller Syndrome |
|
High palate, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Eczema,... |
ORPHA:3132 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Metaphyseal dysplasia, Epiphyseal dysplasia, Kyphoscoliosis, Osteoporosis, Joi... |
OMIM:614727 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Abdominal distention, Spherocytosis, Splenomegaly, Extramedullary h... |
ORPHA:822 |
Spondylosis, Cervical |
|
Spondylolisthesis, Spondylolysis, Osteoarthritis, Spina bifida occulta, Cervical spondylosis |
OMIM:184300 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Eosinophilia, Membranous ... |
OMIM:618999 |
Dent Disease |
|
Renal phosphate wasting, Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Aminoaci... |
ORPHA:1652 |
Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Hypoparathyroidism, Adrenal ... |
ORPHA:231226 |
Mutyh-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... |
ORPHA:247798 |
Lymphedema-Distichiasis Syndrome |
|
Recurrent skin infections, Recurrent urinary tract infections, Renal duplication, Arrhythmia, Tub... |
ORPHA:33001 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal tubular atrophy, Nephritis, Decreased glomerular filtration rate, Nephropathy, Gout, Renal ... |
OMIM:162000 |
Talo-Patello-Scaphoid Osteolysis |
|
Enlarged joints, Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of... |
ORPHA:50809 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Burkitt lymphoma, Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decre... |
OMIM:308240 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Osteopetrosis, Autosomal Recessive 2 |
|
Chronic rhinitis due to narrow nasal airway, Mandibular osteomyelitis, Osteomyelitis, Extramedull... |
OMIM:259710 |
Nemaline Myopathy 4 |
|
High palate, Kyphoscoliosis, Flexion contracture, Difficulty walking, Waddling gait, Scapular win... |
OMIM:609285 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Nausea and v... |
ORPHA:27 |
Prune Belly Syndrome |
|
Pectus excavatum, Abnormality of the ureter, Congenital hip dislocation, Congenital posterior ure... |
ORPHA:2970 |
Restrictive Dermopathy 2 |
|
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties |
OMIM:619793 |
Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Pectus carinatum, Falls, Genu val... |
ORPHA:3101 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Recurrent otitis media, Decreased circulating IgA level, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
Mucolipidosis Iii Alpha/Beta |
|
Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Short r... |
OMIM:252600 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Pancreatitis, Cerebellar hemorrhage, Methylmalonic aciduria, Tubulointerstitial nephritis, Cardio... |
OMIM:251000 |
Dyggve-Melchior-Clausen Syndrome, X-Linked |
|
Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st... |
OMIM:304950 |
Immunodeficiency 75 |
|
Hepatosplenomegaly, Follicular hyperplasia, Lymphoma, Decreased proportion of class-switched memo... |
OMIM:619126 |
Tarsal-Carpal Coalition Syndrome |
|
Carpal synostosis, Humeroradial synostosis, Proximal symphalangism of hands, Distal symphalangism... |
OMIM:186570 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Platyspondyly, Irregular acetabular roof, Genu valgum, Polyarticular arthropathy, Generalized ost... |
ORPHA:1159 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Overlapping toe, Kyphoscoliosis, External genital hypoplasia, Osteoporosis, Jo... |
OMIM:600118 |
Li-Fraumeni Syndrome |
|
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... |
ORPHA:524 |
Hyperlysinuria With Hyperammonemia |
|
Malabsorption, Coma, Lethargy |
OMIM:238750 |
Glycogen Storage Disease Iv |
|
Cardiomyopathy, Portal hypertension, Tubulointerstitial fibrosis |
OMIM:232500 |
Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae |
OMIM:613860 |
Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Schneckenbecken Dysplasia |
|
Narrow chest, Metaphyseal irregularity, Advanced ossification of carpal bones, Short long bone, S... |
OMIM:269250 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating IgG level, Decreased circulating total IgM, Brachydactyly, Abnormal rib mor... |
ORPHA:2643 |
Chondrocalcinosis 2 |
|
Osteoarthritis, Arthropathy, Polyarticular chondrocalcinosis |
OMIM:118600 |
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness |
|
Broad phalanx, Genu valgum, Irregular iliac crest, Short long bone, Metaphyseal irregularity, Sho... |
OMIM:250420 |
Selective Igm Deficiency |
|
Keratitis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Otitis media, Sto... |
ORPHA:331235 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... |
ORPHA:54057 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Metaphyseal irregularity, Coxa vara, Narrow greater sciatic notch, Club-shaped proximal femur, Pl... |
OMIM:184250 |
Chylous Ascites |
|
Neoplasm, Pancreatitis, Abnormal intestine morphology |
ORPHA:1160 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
High palate, Hip contracture, Kyphoscoliosis, Cryptorchidism, Short ribs, Elbow flexion contractu... |
ORPHA:1145 |
Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Back pain, Anemia, Maculopapular exanthema, Lym... |
ORPHA:31205 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Kyphoscoliosis, Joint contracture of the hand, Flexion contracture, Small for ... |
OMIM:214150 |
Trichothiodystrophy 1, Photosensitive |
|
Pili torti, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, T... |
OMIM:601675 |
Holt-Oram Syndrome |
|
Sprengel anomaly, Kyphosis, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sl... |
ORPHA:392 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Iridocyclitis, Uveitis, Ankle swelling, Knee osteoarthritis, Enthesitis, Weight loss, Joint swell... |
ORPHA:85408 |
Arthrogryposis, Distal, Type 2A |
|
High palate, Flexion contracture of finger, Short neck, Rocker bottom foot, Joint dislocation, Ta... |
OMIM:193700 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Irregular vertebral endplates, Irregular tarsal ossification, Cone-shaped epiphyses of the phalan... |
OMIM:226980 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Eczematoid dermatitis, Lymphopenia, Pyoderma, Aplasia of the thymus, Abnormally low T cell recept... |
OMIM:242700 |
Stickler Syndrome Type 1 |
|
Cleft palate, Osteoarthritis, Platyspondyly, Abnormality of vertebral epiphysis morphology, Abnor... |
ORPHA:90653 |
Homocystinuria Without Methylmalonic Aciduria |
|
Vomiting, Lethargy |
ORPHA:622 |
Leukocyte Adhesion Deficiency |
|
Otitis media, Severe periodontitis, Impaired platelet aggregation, Pneumonia, Bone marrow hypocel... |
ORPHA:2968 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Glomerulonephritis, Stage 5 ... |
OMIM:614376 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... |
OMIM:308230 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Kyphoscoliosis, Talipes equinovarus, Genu recurvatum, Hypergonadotropic hypogonadism, Hyp... |
OMIM:604168 |
Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Hepatomegaly, Lymphopenia, Cleft palate, Splenomegaly, Otitis media, Cryptorchidism,... |
OMIM:612541 |
Alpha-Heavy Chain Disease |
|
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Abnormality of the small int... |
ORPHA:100025 |
Osteoarthritis Susceptibility 2 |
|
Osteoarthritis, Heberden's node |
OMIM:140600 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Slender long bones with narrow diaphyses, Abnormal rib cage morphology, Metaphyseal striations, S... |
OMIM:608154 |
Leigh Syndrome With Nephrotic Syndrome |
|
Nephrotic syndrome, Renal tubular acidosis, Tubulointerstitial nephritis, Renal cyst, Heavy prote... |
ORPHA:255249 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Diarrhea, Colitis |
OMIM:219095 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Carpal synostosis, Advanced ossification of carpal bones, Decreased body weight, Epiphyseal dyspl... |
OMIM:615349 |
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome |
|
Osteoarthritis, Brachydactyly, Short thumb |
ORPHA:435804 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... |
OMIM:619705 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Irregular vertebral endplates, Kyphoscoliosis, Lumbar hyperlordosis, Barrel-shaped chest, Platysp... |
OMIM:184100 |
Atelosteogenesis, Type Ii |
|
Lacunar halos around chondrocytes, Cleft palate, Horizontal sacrum, Short neck, Micromelia, Platy... |
OMIM:256050 |
Juberg-Hayward Syndrome |
|
Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radioulnar synostosis, Abnormal rib m... |
ORPHA:2319 |
Slipped Femoral Capital Epiphyses |
|
Hip osteoarthritis, Proximal femoral epiphysiolysis |
OMIM:182260 |
Spondylometaphyseal Dysplasia, Axial |
|
Narrow chest, Coxa vara, Narrow greater sciatic notch, Platyspondyly, Anterior rib cupping, Short... |
OMIM:602271 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Microcytic anemia, Chronic diarrhea, Hepatic steatosis |
OMIM:618805 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Recurrent ot... |
ORPHA:444463 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, Platyspondyl... |
OMIM:102700 |
Thymoma |
|
Neoplasm, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anemia, Myositis, Non-Ho... |
ORPHA:99867 |
Preeclampsia |
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Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... |
ORPHA:275555 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... |
ORPHA:231214 |
Neutrophil Immunodeficiency Syndrome |
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Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
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Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... |
OMIM:212050 |
Igg4-Related Pachymeningitis |
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Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Eosinophilia, Increased circulating IgG4 level... |
ORPHA:449427 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
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Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... |
OMIM:608940 |
Immunodeficiency 69 |
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Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocytosis, Pancytopenia... |
OMIM:618963 |
Smith-Mccort Dysplasia 1 |
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Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... |
OMIM:607326 |
Primary Sclerosing Cholangitis |
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Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... |
ORPHA:171 |
Cerebrooculofacioskeletal Syndrome 4 |
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Dislocated radial head, Kyphoscoliosis, Decreased body weight, Adducted thumb, Camptodactyly of f... |
OMIM:610758 |
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia |
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Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand |
OMIM:619248 |
Sprengel Deformity |
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Sprengel anomaly, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cer... |
OMIM:184400 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
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Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly |
OMIM:618618 |
Peripheral Dysostosis |
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Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger |
OMIM:170700 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
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Coma, Feeding difficulties, Delirium, Confusion, Diarrhea, Vomiting, Myelodysplasia, Drowsiness, ... |
ORPHA:927 |
Immunodeficiency 87 And Autoimmunity |
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Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Cholestasis, Abnormal lymp... |
OMIM:619573 |
Osteopetrosis, Autosomal Dominant 2 |
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Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... |
OMIM:166600 |
Ck Syndrome |
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High palate, Slender build, Kyphoscoliosis, Lumbar hyperlordosis, Long fingers, Joint hypermobili... |
ORPHA:251383 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... |
OMIM:600802 |
Proximal Symphalangism |
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Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... |
ORPHA:3250 |
Familial Partial Lipodystrophy, Köbberling Type |
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Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Polycystic ovaries, Hepatic stea... |
ORPHA:79084 |
Hyperekplexia 4 |
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High palate, Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodact... |
OMIM:618011 |
Contractural Arachnodactyly, Congenital |
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High palate, Osteopenia, Short neck, Pectus carinatum, Ulnar deviation of finger, Bowing of the l... |
OMIM:121050 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Eczema, Lymphadenitis, Scoliosis, Infla... |
OMIM:615895 |
Lymphoproliferative Syndrome 3 |
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Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Decreased circulating antibod... |
OMIM:618261 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... |
OMIM:300106 |
Hypophosphatemic Rickets, X-Linked Dominant |
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Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... |
OMIM:307800 |
Benign Recurrent Intrahepatic Cholestasis |
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Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Hep... |
ORPHA:65682 |
Primary Effusion Lymphoma |
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B-cell lymphoma, Abdominal distention, Abdominal pain |
ORPHA:48686 |
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals |
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Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... |
OMIM:609655 |
Mosaic Trisomy 14 |
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