Gene Summary

SMAD family member 3
Madh3,  Smad 3

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased exploration in new environment Smad3em1(IMPC)H HET Early adult 5.70×10-05
decreased lymphocyte cell number Smad3em1(IMPC)H HET Early adult 4.35×10-07
decreased circulating alkaline phosphatase level Smad3em1(IMPC)H HET Early adult 7.11×10-06

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Viewing: all phenotypes

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 Smad3 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.

The table below shows human diseases associated to Smad3 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Smad3 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
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
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... OMIM:161900
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
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
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
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
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
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
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
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
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
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
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
Neoplasm, Rheumatoid arthritis, Abnormal lymphocyte physiology, Aplastic anemia, Myositis, Non-Ho... ORPHA:99867
Chronic kidney disease, Abnormality of the kidney, Elevated circulating creatinine concentration,... ORPHA:275555
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Diarrhea, Aniso... ORPHA:231214
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Chronic oral candidiasis, Abnormal B cell count, Hyp... OMIM:212050
Igg4-Related Pachymeningitis
Sinusitis, Pancreatitis, Nephritis, Lymphadenitis, Eosinophilia, Increased circulating IgG4 level... ORPHA:449427
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow greater sciatic n... OMIM:608940
Immunodeficiency 69
Leukocytosis, Skin rash, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocytosis, Pancytopenia... OMIM:618963
Smith-Mccort Dysplasia 1
Metaphyseal irregularity, Multicentric femoral head ossification, Kyphosis, Prominent sternum, Be... OMIM:607326
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Cerebrooculofacioskeletal Syndrome 4
Dislocated radial head, Kyphoscoliosis, Decreased body weight, Adducted thumb, Camptodactyly of f... OMIM:610758
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis, Brachydactyly, Abnormal epiphysis morphology of the phalanges of the hand OMIM:619248
Sprengel Deformity
Sprengel anomaly, Hemivertebrae, Shoulder muscle hypoplasia, Scoliosis, Spina bifida occulta, Cer... OMIM:184400
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Osteoarthritis, Cone-shaped epiphysis, Brachydactyly OMIM:618618
Peripheral Dysostosis
Hip osteoarthritis, Cone-shaped epiphyses of the phalanges of the hand, Short phalanx of finger OMIM:170700
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Feeding difficulties, Delirium, Confusion, Diarrhea, Vomiting, Myelodysplasia, Drowsiness, ... ORPHA:927
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Cholestasis, Abnormal lymp... OMIM:619573
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm... OMIM:166600
Ck Syndrome
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
Decreased lymphocyte proliferation in response to anti-CD3, Lymphopenia, Absent peripheral lymph ... OMIM:600802
Proximal Symphalangism
Clinodactyly of the 5th finger, Elbow ankylosis, Camptodactyly of finger, Brachydactyly, Synostos... ORPHA:3250
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Diabetes mellitus, Polycystic ovaries, Hepatic stea... ORPHA:79084
Hyperekplexia 4
High palate, Kyphoscoliosis, Talipes equinovarus, Flexion contracture, Adducted thumb, Camptodact... OMIM:618011
Contractural Arachnodactyly, Congenital
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
Hepatomegaly, Leukocytosis, Splenomegaly, Abdominal pain, Eczema, Lymphadenitis, Scoliosis, Infla... OMIM:615895
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Decreased circulating antibod... OMIM:618261
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Broad phalanx, Anterior wedging of T11, Platy... OMIM:300106
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal... OMIM:307800
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Abdominal pain, Anorexia, Cirrhosis, Hep... ORPHA:65682
Primary Effusion Lymphoma
B-cell lymphoma, Abdominal distention, Abdominal pain ORPHA:48686
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov... OMIM:609655
Mosaic Trisomy 14