Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

platelet/endothelial cell adhesion molecule 1
PECAM-1,  Cd31

IMPC Data Collections

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

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.

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 Pecam1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pecam1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Glycoprotein Storage Disease
Gout OMIM:232900
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Familial Cylindromatosis
Telangiectasia of the skin ORPHA:211
Porokeratosis 2, Palmar, Plantar, And Disseminated Type
Palmar telangiectasia, Plantar telangiectasia OMIM:175850
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis, Ciliary dyskinesia OMIM:615294
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Abnormal circulating interleukin concentration, Abnormality o... ORPHA:70578
Moyamoya Disease 1
Telangiectasia, Inflammatory arteriopathy OMIM:252350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... ORPHA:444463
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Acute kidney injury, Abnorm... ORPHA:542323
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Abnormal circulating interleukin concentration, Limitation of joint mobility, Polyart... ORPHA:85435
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Kienbock Disease
Osteochondritis dissecans, Abnormality of the wrist, Limitation of joint mobility, Osteoarthritis ORPHA:97332
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis, Ciliary dyskinesia OMIM:615872
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Abnormal pulmonary interstitial morphology, Congestive heart ... ORPHA:330001
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,... ORPHA:275555
Pulmonary Edema Of Mountaineers, Susceptibility To
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Telangiectasia, Hereditary Benign
Diffuse telangiectasia OMIM:187260
Capillary Malformation-Arteriovenous Malformation 2
Telangiectasia OMIM:618196
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Lissencephaly, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... ORPHA:75249
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Renal insufficiency, Pleural effusion, Leukocytosis, Pulmonary edema, Arrh... ORPHA:188
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Hip osteoarthritis, Abnormality of the ankle, Osteoarthritis of the elbow, Limitation... ORPHA:2619
Congenital Atransferrinemia
Arthritis ORPHA:1195
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Cardiomyopathy, Familial Hypertrophic, 4
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventr... OMIM:115197
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... ORPHA:566943
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal circulating interleukin concentration, Rheumatoid arthritis, Abnormality of the ankle, I... ORPHA:85410
Familial Multiple Trichoepithelioma
Telangiectasia of the skin ORPHA:867
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Hepatitis, Bronchitis, Cholestasis, Emphysema, Cirrhosis, He... ORPHA:60
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Joint swelling, Arthritis, Os... ORPHA:1416
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Edema, Atelectasis OMIM:267450
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... ORPHA:564003
Macrophage Activation Syndrome
Abnormal circulating interleukin concentration, Increased circulating interleukin 6 concentration... ORPHA:158061
Eng-Strom Syndrome
Arthritis, Camptodactyly of finger ORPHA:1937
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent... ORPHA:2137
Moyamoya Disease
Telangiectasia ORPHA:2573
Mucopolysaccharidosis, Type Ix
Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Wrist hypermobility, Periarti... OMIM:601492
Hellp Syndrome
Generalized edema, Acute kidney injury, Hypotension, Elevated circulating hepatic transaminase co... ORPHA:244242
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis OMIM:271600
Rombo Syndrome
Facial telangiectasia OMIM:180730
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Uv-Sensitive Syndrome 3
Telangiectasia OMIM:614640
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Panhypogammaglobulinemia, Otitis media, Purulent rhinitis, Arthritis, Conjunctivitis OMIM:601457
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, El... OMIM:613812
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Arthritis OMIM:617772
Osteoarthritis With Mild Chondrodysplasia
Knee osteoarthritis, Hip osteoarthritis, Joint stiffness, Heberden's node OMIM:604864
Drug Reaction With Eosinophilia And Systemic Symptoms
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Hepatitis, Angioedem... ORPHA:139402
Tako-Tsubo Cardiomyopathy
Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricular fibrillation, ST segment elevation... ORPHA:66529
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Anasarca, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Asc... OMIM:261740
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Arthralgia/arth... ORPHA:411593
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent sinusitis, Reduced sperm motility, Bronchiectasis, Ciliary dyskinesia OMIM:619436
Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Recurrent cutaneous absc... ORPHA:231
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Lymphopenia, Hepatosp... ORPHA:169160
Papa Syndrome
Limitation of joint mobility, Crohn's disease, Increased inflammatory response, Increased circula... ORPHA:69126
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Abnormal lung morphology, Hepatitis, Lymphopenia, Abnor... ORPHA:549
Telangiectasia, Hereditary Hemorrhagic, Type 5
Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis OMIM:615506
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, ... OMIM:308230
Pneumonia, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Shock, Abnormality of the spleen, Pa... ORPHA:31202
Multicentric Reticulohistiocytosis
Arthritis ORPHA:139436
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Panhypogammaglobulinemia, Recurrent otitis media, Recurrent... OMIM:615207
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections ORPHA:36237
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hematuria, Pulmonary edema, Glomerulonephritis, Tubulointerstitial nephri... ORPHA:340
Psoriasis 1, Susceptibility To
Psoriasiform dermatitis, Arthritis OMIM:177900
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t... ORPHA:60033
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
High Altitude Pulmonary Edema
Pulmonary edema, Tachycardia, Leukocytosis ORPHA:330012
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Limitation of joint mobility, Joint stiffness, Genu valgum, Abno... ORPHA:93308
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis ORPHA:2206
Autosomal Agammaglobulinemia
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulinemia, Arthritis, Sinusitis, Ne... ORPHA:33110
X-Linked Agammaglobulinemia
Recurrent pneumonia, Abnormal lung morphology, Hepatitis, Osteomyelitis, Skin rash, Abnormality o... ORPHA:47
Mhc Class I Deficiency 1
Emphysema, Bronchiectasis, Bronchiolitis, Recurrent bronchitis OMIM:604571
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent sinusitis, Chronic bronchitis, Respiratory insufficiency due to de... OMIM:615451
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Anti-Sm antibody positivity, ... OMIM:620321
Congenital Enterovirus Infection
Hypotension, Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, ... ORPHA:292
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... ORPHA:905
Eczematoid dermatitis, Joint stiffness, Joint swelling, Osteoarthritis, Arthritis, Abnormality of... ORPHA:1525
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Hematuria, Hepatomegaly, Endocarditis, ... ORPHA:781
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules
Recurrent sinopulmonary infections, Ciliary dyskinesia OMIM:215520
Decreased circulating IgG level, Generalized edema, Hepatosplenomegaly, Decreased circulating IgA... ORPHA:79330
Epiphyseal Dysplasia, Multiple, 3
Delayed epiphyseal ossification, Abnormal hip joint morphology, Limited elbow extension, Limited ... OMIM:600969
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Cerebral Cavernous Malformations 2
Telangiectasia, Cerebral hemorrhage OMIM:603284
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph... OMIM:308240
Beukes Hip Dysplasia
Shallow acetabular fossae, Osteoarthritis OMIM:142669
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Knee flexion contracture, Arthritis, Colitis, Sterile arthritis, Cysti... OMIM:604416
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Dilated cardiomyopathy, Congestive heart fai... ORPHA:73224
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Pulmonary edema, Capillary leak, ... ORPHA:64739
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Antiphospho... OMIM:152700
Hip Dysplasia, Beukes Type
Abnormal bone ossification, Abnormal ossification involving the femoral head and neck, Abnormalit... ORPHA:2114
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg... ORPHA:91138
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Arthritis ORPHA:2582
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis OMIM:613217
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Synovitis, Glomerulonephritis, Arthritis, Serositis ORPHA:567544
Felty Syndrome
Rheumatoid arthritis OMIM:134750
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Recurrent respiratory infections, Hepatitis ORPHA:363523
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Bronchiectasis, Atelectasis ORPHA:922
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... ORPHA:3261
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating... OMIM:616100
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Renal tubular dysfunction, Hem... ORPHA:31826
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... OMIM:620565
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent otitis media, Decreased circulating antibody level, Autoimmunity, Chronic si... ORPHA:397596
Cocaine Intoxication
Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Diffus... ORPHA:90068
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Avian Influenza
Pneumonia, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Increase... ORPHA:454836
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Bronchopulmonary Dysplasia
Emphysema, Abnormal lung morphology, Pulmonary sequestration, Atelectasis ORPHA:70589
Allergic Bronchopulmonary Aspergillosis
Emphysema, Bronchiectasis ORPHA:1164
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Bone marrow hypocellularity, Mandibular osteomyelitis, Fractures of the long ... OMIM:166600
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis ORPHA:93283
Spondylosis, Cervical
Osteoarthritis OMIM:184300
Vertical Talus, Congenital
Arthritis OMIM:192950
Scorpion Envenomation
Acute pancreatitis, Acute kidney injury, Cardiogenic shock, Prominent U wave, Glycosuria, Ketonur... ORPHA:466677
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Panhypogammaglob... OMIM:209920
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Joint stiffness, Abnormal hip joint morphology, Abnormality o... ORPHA:85408
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret... OMIM:194380
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T c... OMIM:304790
Subcorneal Pustular Dermatosis
Rheumatoid arthritis, Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody ... ORPHA:48377
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ... OMIM:612387
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Hip osteoarthritis OMIM:619248
Graft Versus Host Disease
Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t... ORPHA:39812
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Hepatomegaly, A... ORPHA:294
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:208085
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Giant cel... OMIM:214950
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Pulmonary edema, Card... OMIM:105210
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Ascites, Abnormal pleura morphology, Splenomegaly, Mucopolysacchariduria, ... ORPHA:584
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Antinuclear antibody positivity, Crescentic glomerulonephritis, Arthritis OMIM:616414
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility OMIM:130020
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Skin rash, Joint swelling, Arthritis, Juvenile rheumatoid arthritis, Pericarditis, ... ORPHA:85414
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Vasculitis, Gastrointestinal hemorrhage, Paraprot... ORPHA:91139
Autoimmune Lymphoproliferative Syndrome, Type Iii
Anticardiolipin IgG antibody positivity, Recurrent otitis media, Autoimmunity, Autoimmune hemolyt... OMIM:615559
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Congenital Pseudoarthrosis Of The Clavicle
Osteoarthritis ORPHA:66630
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Osteoarthritis ORPHA:2762
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyelitis, Renal insuffici... ORPHA:36234
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis OMIM:616833
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circulating inter... ORPHA:391487
Familial Spontaneous Pneumothorax
Abnormal pleura morphology, Pneumothorax ORPHA:2903
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Osteochondritis dissecans, Premature osteoarthritis OMIM:165800
Ciliary Dyskinesia, Primary, 6
Recurrent respiratory infections, Abnormal ciliary motility, Recurrent sinusitis, Ciliary dyskinesia OMIM:610852
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hashimoto thyroiditis, ... OMIM:618549
Absence Of The Pulmonary Artery
Recurrent pneumonia, Pulmonary hypoplasia, Atrial flutter, Congestive heart failure, Abnormal EKG... ORPHA:980
Spondyloarthropathy, Susceptibility To, 1
Hip osteoarthritis, Inflammation of the large intestine, Rheumatoid factor positive, Sacroiliac a... OMIM:106300
Delayed epiphyseal ossification, Irregular acetabular roof, Joint stiffness, Genu valgum, Increas... ORPHA:750
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Increased circulating antibody level, Hepatomegaly, ... OMIM:615846
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Recurrent lower respirat... OMIM:300755
Schnitzler Syndrome
Increased bone mineral density, Increased circulating IgM level, Skin rash, Arthritis ORPHA:37748
Increased bone mineral density, Joint stiffness, Ectopic ossification in muscle tissue, Arthritis ORPHA:2485
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Lymphopenia, Psoriasiform dermatitis, Int... OMIM:243150
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the ankle, Genu valgum, Abnormality of the epiphyses of the elbow, Osteoarthritis,... ORPHA:166002
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Dysplasia Epiphysealis Hemimelica
Joint stiffness, Genu valgum, Recurrent fractures, Osteoarthritis, Tarsal synostosis, Genu varum ORPHA:1822
Epiphyseal Dysplasia, Multiple, 6
Abnormality of the knee, Osteoarthritis OMIM:614135
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hypermobility ORPHA:63442
Congenital Disorder Of Glycosylation, Type Iih
Elevated serum transaminases during infections, Elevated circulating aspartate aminotransferase c... OMIM:611182
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Panh... ORPHA:572
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Limitation of joint mobility, Abnormality of tumor necrosis factor secretion, Polyarticu... ORPHA:85436
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Limitation of joint mobility, Abnormal joint mo... ORPHA:47612
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Joint swelling, Osteolytic defects of the phalanges of th... OMIM:228000
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Hypersplenism, Decreased circulating IgA level, Portal hypertension, Splenomegaly, Pan... OMIM:613385
Liver Disease, Severe Congenital
Portal inflammation, Recurrent otitis media, Hepatic steatosis, Pulmonary edema, Abnormal hepatic... OMIM:619991
Isolated Agammaglobulinemia
Pneumonia, Autoimmunity, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality ... ORPHA:229717
Achalasia, Familial Esophageal
Rheumatoid arthritis, Keratoconjunctivitis sicca OMIM:200400
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Abnormality of tumor necrosis factor secretion, Shock, Ab... ORPHA:178320
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent aphthous stomatitis, Decreased circulating IgA level, ... ORPHA:275
Ogden Syndrome
Torsade de pointes, Recurrent otitis media, Pulmonary edema, Premature ventricular contraction, A... OMIM:300855
Epiphyseal Dysplasia, Multiple, 1
Delayed epiphyseal ossification, Hip osteoarthritis, Limited hip movement, Joint stiffness, Genu ... OMIM:132400
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Joint dislocation, Genu valgum, Generalized joint hypermobility, Osteoarthritis, Enlarged joints ORPHA:85198
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Elevated gamma-glutamyltransferase level, H... ORPHA:186
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Thrombocytosis, Erythroderm... ORPHA:3260
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Recurrent respiratory infections ORPHA:3348
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Elevated gamma-glutamyltransferase level, Inflammation of the large in... ORPHA:562639
Congenital Isolated Acth Deficiency
Prolonged neonatal jaundice, Hypotension, Hepatitis ORPHA:199296
Japanese Encephalitis
Infectious encephalitis, Pulmonary edema, Increased circulating antibody level, Neutrophilia, Cer... ORPHA:79139
Epiphyseal Dysplasia, Multiple, 5
Premature osteoarthritis, Genu valgum, Delayed tarsal ossification, Delayed ossification of carpa... OMIM:607078
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum OMIM:611762
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... OMIM:215600
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Lung ade... ORPHA:2302
Chronic kidney disease, Vasculitis, Pneumonia, Hepatitis, Pancytopenia, Skin rash, Autoimmune hem... ORPHA:1855
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA level, Oligoart... OMIM:619510
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Skin rash, Maculopapular exanthema, Infectious encephal... ORPHA:448237
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Immotile cilia, Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia OMIM:244400
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatomegaly, Acute hepatitis, Decreased liver function, Homocitrullinuria OMIM:238970
Pustule, Acute infectious pneumonia, Neutropenia, Periorbital edema, Endocarditis, Gastrointestin... ORPHA:73263
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Generalized osteoscleros... ORPHA:53
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Portal hypertension, Hypo... ORPHA:440713
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Joint stiffness, Osteoarthritis ORPHA:1345
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atel... ORPHA:60032
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p... ORPHA:79126
Lesch-Nyhan Syndrome
Gout ORPHA:510
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Autoimmunity, Septic arthritis, Decreased circulating... OMIM:617780
Rift Valley Fever
Macular edema, Elevated circulating hepatic transaminase concentration, Hepatitis, Increased circ... ORPHA:319251
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Increased circulating interf... ORPHA:540
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pneumon... OMIM:614700
Autosomal Dominant Spastic Paraplegia Type 36
Arthritis ORPHA:320365
Hypotension, Acute kidney injury, Uveitis, Hepatitis, Pulmonary hemorrhage, Pleural effusion, Ski... ORPHA:509
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyto... ORPHA:228426
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hepatitis, Myositis, Hashimoto thyroiditis, Raynaud phenomenon,... ORPHA:589
Abnormality of the elbow, Genu varum, Osteoarthritis, Joint hypermobility ORPHA:429
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Increased circulating antibody l... ORPHA:319218
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Congenital Bile Acid Synthesis Defect Type 4
Cholestatic liver disease, Hematochezia, Giant cell hepatitis, Elevated circulating hepatic trans... ORPHA:79095
Progressive Pseudorheumatoid Dysplasia
Joint contracture of the hand, Camptodactyly of finger, Joint stiffness, Enlarged interphalangeal... OMIM:208230
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Pulmonary hemorrhage, Hepatosplenomegaly, Pancytopenia, A... ORPHA:79124
Kawasaki Disease
Vasculitis, Hepatitis, Sterile pyuria, Congestive heart failure, Conjunctivitis, Abnormal pulmona... ORPHA:2331
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Familial Cold Autoinflammatory Syndrome 1
Conjunctivitis, Skin rash, Arthritis, Uveitis OMIM:120100
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Premature osteoarthritis OMIM:184840
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Panhypogammaglobulinemia, Recurrent otitis media, Pyoderma, Inf... OMIM:307200
Pfapa Syndrome
Arthritis, Infectious encephalitis ORPHA:42642
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Nephritis, Gout OMIM:162000
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgG, Pustular rash, Recurrent otitis media, Follicular hyperplasia, R... OMIM:619381
Rheumatoid Arthritis
Rheumatoid arthritis, Polyarticular arthritis, Anti-citrullinated protein antibody positivity, Jo... OMIM:180300
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis ORPHA:254361
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip osteoarthritis, Limited hip movement, Hip contracture, Abnormality of the knee, Hip subluxati... ORPHA:99642
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Keratoc... OMIM:269200
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys... OMIM:610199
Truncus Arteriosus
Aortic regurgitation, Pulmonary artery hypoplasia, Pulmonary artery atresia, Abnormal lung lobati... ORPHA:3384
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Cholesterol gallstones, Macro... ORPHA:209902
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Osteoarthritis ORPHA:166100
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:793
Relapsing Polychondritis
Uveitis, Keratitis, Hepatitis, Atelectasis, Large vessel vasculitis, Recurrent aphthous stomatiti... ORPHA:728
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psoriasiform der... ORPHA:324964
Trichohepatoenteric Syndrome 2
Hepatomegaly, Colitis, Cirrhosis, Chronic hepatitis OMIM:614602
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Decreased proportion of naive T cells, Aplasia of the thymus, A... ORPHA:83471
Chronic Mucocutaneous Candidiasis
Hepatitis, Skin rash, Hematuria, Recurrent respiratory infections, Cheilitis ORPHA:1334
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Immunodeficiency 67
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:607676
Neuropathy, Hereditary Sensory And Autonomic, Type V
Painless fractures due to injury, Osteomyelitis, Arthropathy, Osteoarthritis, Septic arthritis, R... OMIM:608654
Multiple Epiphyseal Dysplasia Type 5
Premature osteoarthritis, Limited hip movement, Genu valgum, Joint stiffness, Intervertebral disk... ORPHA:93311
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Arthritis ORPHA:375
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... OMIM:617321
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Hematuria, Increased ... ORPHA:48435
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections OMIM:242700
Eosinophilic Fasciitis
Myositis, Arthritis, Fasciitis ORPHA:3165
Vexas Syndrome
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... OMIM:301054
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Bronchiectasis, Osteoarthritis, Joint hypermobility OMIM:620080
Wilson Disease
Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas... OMIM:277900
Surfactant Metabolism Dysfunction, Pulmonary, 4
Intraalveolar phospholipid accumulation OMIM:300770
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Increased susceptibility to fractures, Synov... ORPHA:77297
Blau Syndrome
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Camptodactyly of finger, Joint swelling... OMIM:186580
Familial Cold Urticaria
Conjunctivitis, Arthritis ORPHA:47045
Hemochromatosis, Type 2A
Arthritis OMIM:602390
Aicardi-Goutieres Syndrome 6
Increased circulating Interferon-alpha concentration, Chilblains OMIM:615010
Lichen Planopilaris
Hepatitis ORPHA:525
Wild Type Abeta2M Amyloidosis
Arthritis, Arthropathy ORPHA:85446
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Respiratory ins... OMIM:615067
Spondyloepimetaphyseal Dysplasia, Irapa Type
Genu valgum, Limited elbow extension, Osteoarthritis, Capitate-hamate fusion OMIM:271650
Cinca Syndrome
Patellar overgrowth, Skin rash, Arthritis, Uveitis OMIM:607115
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Systemic lupus erythematosus, Abnormal circulating cytok... ORPHA:464343
Proteasome-Associated Autoinflammatory Syndrome 3
Skin rash, Increased circulating antibody level, Myositis, Arthritis, Sinusitis, Conjunctivitis, ... OMIM:617591
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Nephrocalcinosis, Chronic mucocutaneous candidiasis, Keratoco... OMIM:240300
Hemochromatosis, Type 3
Arthritis OMIM:604250
Idiopathic Chronic Eosinophilic Pneumonia
Hypersensitivity pneumonitis, Pleural effusion, Atelectasis ORPHA:2902
Enthesitis-Related Juvenile Idiopathic Arthritis
Hip osteoarthritis, Abnormality of the ankle, Anterior uveitis, Sacroiliac arthritis, Abnormal hi... ORPHA:85438
Emphysema ORPHA:436
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... ORPHA:31205
Hyperimmunoglobulinemia D With Periodic Fever
Limitation of joint mobility, Recurrent aphthous stomatitis, Peritonitis, Increased circulating I... ORPHA:343
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Emphysema, Pulmonary fibrosis OMIM:620365
Immunodeficiency 68
Septic arthritis, Recurrent skin infections, Lymphadenitis OMIM:612260
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Hematuria, Cirrhosis, Polyclonal elevation of... ORPHA:355
Periodic Fever, Familial, Autosomal Dominant
Erysipelas, Polyarticular arthritis, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculop... OMIM:142680
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Autoimmune ... ORPHA:331235
Stickler Syndrome Type 1
Osteoarthritis, Joint hypermobility ORPHA:90653
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Joint stiffness, Genu valgum, Abnormal acetabulum morphology, Abnor... ORPHA:166011
Primary Ciliary Dyskinesia
Abnormal sperm motility, Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peri... ORPHA:244
Ulnar Hemimelia
Abnormality of the humeroulnar joint, Carpal synostosis, Limited elbow flexion, Elbow flexion con... ORPHA:93320
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respiratory infections, Pulmonary fibros... OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Lujo Hemorrhagic Fever
Lymphopenia, Periorbital edema, Cerebral edema, Increased circulating lactate dehydrogenase conce... ORPHA:319213
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Ketonuria, Hypertrophic cardiomyopathy, Mitral regurgitation, Microvesicular hepatic... OMIM:220111
Combined Oxidative Phosphorylation Deficiency 53
Septic arthritis, Osteomyelitis, Arthritis OMIM:619423
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Osteopenia, Limitation of joint mobility, Eczematoid dermatitis, Arthropathy, Wormian bones, Oste... OMIM:259100
Muckle-Wells Syndrome
Camptodactyly of finger, Recurrent aphthous stomatitis, Episcleritis, Skin rash, Arthritis, Conju... ORPHA:575
Dermatoosteolysis, Kirghizian Type
Keratitis, Abnormality of the wrist, Osteoarthritis, Tarsal synostosis, Osteolysis ORPHA:1657
Psoriasis 14, Pustular
Polyarticular arthritis, Psoriasiform dermatitis, Pustule, Oligoarthritis, Cholangitis OMIM:614204
Severe Hemophilia A
Limitation of joint mobility, Progressive joint destruction, Joint swelling, Synovitis, Limb join... ORPHA:169802
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Congenital pulmonary airway malformation, Hepatitis, Psoriasiform dermatitis,... ORPHA:436252
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Synostosis of joints, Chronic otitis media, Arthritis ORPHA:61
Lyme Disease
Infectious encephalitis, Joint swelling, Arthritis, Uveitis ORPHA:91546
Moderate Hemophilia A
Limitation of joint mobility, Joint swelling, Hip contracture, Arthropathy, Synovitis, Joint hemo... ORPHA:169805
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Antineutrophil antibody positivity, Systemic lupus erythematosus, ... ORPHA:93552
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Osteopenia, Carpal osteolysis, Pterygium, Osteolysis involving tarsal bones, Increased susceptibi... ORPHA:371428
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Pneumonia, Osteomyelitis, Sinusitis, Arthralgia/arthritis, Septic arthritis, Endocarditis, Perica... ORPHA:449280
Hemochromatosis, Type 4
Osteoarthritis OMIM:606069
Antisynthetase Syndrome
Joint dislocation, Autoimmunity, Skin rash, Myositis, Keratoconjunctivitis sicca, Arthritis, Myoc... ORPHA:81
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Gout OMIM:618061
Nail-Patella Syndrome
Contracture of the distal interphalangeal joint of the fingers, Patellar aplasia, Patellar disloc... ORPHA:2614
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis... OMIM:610984
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Autoimmunity, Episcleritis, Skin rash, Arthritis, Inflammatory abnormality of ... ORPHA:36412
Immunodeficiency 89 And Autoimmunity
Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening OMIM:619632
Microscopic Polyangiitis
Uveitis, Autoimmunity, Episcleritis, Skin rash, Increased inflammatory response, Peritonitis, Pan... ORPHA:727
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Cervical subluxation, Arthritis OMIM:184100
Overlap Myositis
Rheumatoid arthritis, Systemic lupus erythematosus, Subluxation of the small joints of the hand, ... ORPHA:206572
Aortic Aneurysm, Familial Thoracic 12
Arthritis OMIM:619825
Roifman-Chitayat Syndrome
Pneumonia, Osteopenia, Arthritis OMIM:613328
Mccune-Albright Syndrome
Renal phosphate wasting, Bone marrow hypocellularity, Hepatitis, Cholestasis, Pancytopenia, Hyper... ORPHA:562
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Multiple joint dislocation, Hip subluxation, Elbow flexion contr... ORPHA:93360
Mixed Connective Tissue Disease
Joint stiffness, Autoimmunity, Skin rash, Joint swelling, Myositis, Gastritis, Keratoconjunctivit... ORPHA:809
Acute Liver Failure
Hypotension, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration... ORPHA:90062
Takayasu Arteritis
Inflammatory abnormality of the eye, Increased inflammatory response, Arthritis ORPHA:3287
Spondyloepiphyseal Dysplasia Tarda
Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo... ORPHA:93284
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Autoimmunity, Autoimmune hemolytic anemia, Skin rash, Autoimmune thrombocyt... ORPHA:100026
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Gout OMIM:617056
Alstrom Syndrome
Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Elevated circulating hepatic transaminase... OMIM:203800
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Hypotension, Hepatitis, Macrocytic anemia, Hashimoto thyroiditis, Eosinophilia... ORPHA:199299
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Retinal telangiectasia, Gastro... ORPHA:774
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Arthritis ORPHA:397744
Adiposis Dolorosa
Recurrent skin infections, Autoimmunity, Arthritis ORPHA:36397
Delayed epiphyseal ossification, Genu recurvatum, Ulnar deviation of the wrist, Genu valgum, Limi... OMIM:177170
Rheumatoid arthritis, Anti-acetylcholine receptor antibody positivity, Systemic lupus erythematos... ORPHA:99867
Laron Syndrome
Osteoarthritis, Abnormality of the elbow ORPHA:633
Ehlers-Danlos Syndrome, Classic Type, 1
Joint dislocation, Recurrent sinusitis, Joint hypermobility, Osteoarthritis, Hyperextensibility o... OMIM:130000
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatitis, Decreased li... ORPHA:415
Behcet Syndrome
Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis OMIM:109650
Acute Disseminated Encephalomyelitis
Myelitis, Herpes simplex encephalitis, Optic neuritis, Cerebral edema, Viral hepatitis ORPHA:83597
Mild Phosphoribosylpyrophosphate Synthetase Superactivity
Arthritis ORPHA:411536
Severe Phosphoribosylpyrophosphate Synthetase Superactivity
Gout, Arthritis ORPHA:411543
Morgagni-Stewart-Morel Syndrome
Osteoporosis, Acne, Osteoarthritis ORPHA:77296
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Knee dislocation, Generalized joint hypermobility, Cervical C2/C3 vertebral fusion, J... OMIM:618000
Stickler Syndrome, Type I
Joint stiffness, Joint hypermobility, Arthropathy, Osteoarthritis, Arthritis OMIM:108300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Chronic gastritis, Esophagitis, Skin rash, Perianal abscess,... OMIM:301074
Rheumatic Fever
Arthritis, Sinusitis, Myocarditis, Endocarditis, Pericarditis ORPHA:3099
Myotubular Myopathy With Abnormal Genital Development
Atelectasis OMIM:300219
Netherton Syndrome
Emphysema, Recurrent respiratory infections ORPHA:634
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir... OMIM:620233
Desbuquois Dysplasia 1
Joint dislocation, Advanced tarsal ossification, Joint hypermobility, Phalangeal dislocation, Ost... OMIM:251450
Reactive Arthritis
Inflammation of the large intestine, Osteomyelitis, Joint stiffness, Recurrent aphthous stomatiti... ORPHA:29207
Medullary cystic kidney disease 2
Tubulointerstitial nephritis, Gout OMIM:603860
Reynolds Syndrome
Keratoconjunctivitis sicca, Skin rash, Arthritis, Infectious encephalitis ORPHA:779
Limited hip movement, Intervertebral disk degeneration, Arthropathy, Limited shoulder movement, A... OMIM:203500
Diffuse Cutaneous Systemic Sclerosis
Flexion contracture, Autoimmunity, Osteolysis, Arthritis ORPHA:220393
Hyper-Igd Syndrome
Lymphadenitis, Skin rash, Increased circulating IgA level, Arthritis, Chronic oral candidiasis, I... OMIM:260920
Autoinflammatory Disease, Systemic, With Vasculitis
Atopic dermatitis, Increased circulating interleukin 6 concentration, Parotitis, Decreased circul... OMIM:620376
Eosinophilic Granulomatosis With Polyangiitis
Autoimmunity, Skin rash, Increased inflammatory response, Myositis, Myocarditis, Arthritis, Sinus... ORPHA:183
Pneumonia, Hip osteoarthritis, Arteritis, Rheumatoid factor positive, Sacroiliac arthritis, Osteo... ORPHA:1304
Common Variable Immunodeficiency
Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis ORPHA:1572
Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Osteomyelitis, Joint swelling, S... ORPHA:2796
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Maculopapular exanthema, Myositis, Peritonitis, A... ORPHA:228119
Generalized Pustular Psoriasis
Palmoplantar pustulosis, Pustule, Erythroderma, Arthritis, Cheilitis, Uveitis ORPHA:247353
Joint stiffness, Skin rash, Maculopapular exanthema, Joint swelling, Crusting erythematous dermat... ORPHA:324625
Localized Scleroderma
Fasciitis, Sclerosis of finger phalanx, Esophagitis, Autoimmunity, Hashimoto thyroiditis, Arthrit... ORPHA:90289
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,... OMIM:600376
Dowling-Degos Disease
Acne inversa, Arthritis ORPHA:79145
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Decreased circulating total IgG, Psoriasiform dermatitis, Decreased specific antibody... ORPHA:221139
Otospondylomegaepiphyseal Dysplasia
Limitation of joint mobility, Abnormal joint morphology, Enlarged joints, Osteoarthritis, Abnorma... ORPHA:1427
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level,... ORPHA:420741
Chondrocalcinosis, Autoimmunity, Arthritis, Pericarditis ORPHA:732
Meier-Gorlin Syndrome 4
Emphysema OMIM:613804
Kid Syndrome
Posterior blepharitis, Folliculitis, Acne inversa, Keratitis, Patellar hypoplasia, Psoriasiform d... ORPHA:477
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Genu varum, Osteoarthritis OMIM:602111
Hereditary Xanthinuria
Rheumatoid arthritis, Gout, Arthropathy ORPHA:3467
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Osteochondrosis, Pancreatitis, Myocarditis, Rhinitis, Maculopapu... ORPHA:499009
Symptomatic Form Of Hfe-Related Hemochromatosis
Joint stiffness, Joint swelling, Arthropathy, Arthritis, Osteoporosis, Stiff interphalangeal joints ORPHA:465508
Whipple Disease
Infectious encephalitis, Myositis, Arthritis, Myocarditis, Pericarditis, Uveitis ORPHA:3452
Systemic Sclerosis
Anti-centromere antibody positivity, Osteomyelitis, Joint swelling, Antinuclear antibody positivi... ORPHA:90291
Hemophilia A
Joint hemorrhage, Osteoarthritis OMIM:306700
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections OMIM:219100
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Abnormal sacroiliac j... ORPHA:32960
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Recurrent otitis media, Panniculitis, Recurre... OMIM:615688
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Sclerosis ... OMIM:607944
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Autoimmunity, Skin rash, Keratoconjunctivitis sicca,... ORPHA:79128
Cutis Laxa, Autosomal Dominant 1
Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis OMIM:123700
Farber Disease
Abnormality of the wrist, Joint swelling, Arthritis, Abnormality of the knee, Osteoporosis, Flexi... ORPHA:333
Glycogen Storage Disease Vii
Gout OMIM:232800
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp... ORPHA:538
Systemic Lupus Erythematosus
Discoid lupus rash, Antineutrophil antibody positivity, Malar rash, Anti-Sm antibody positivity, ... ORPHA:536
Hypophosphatemic Rickets, X-Linked Dominant
Rickets, Osteomalacia, Genu valgum, Hypophosphatemic rickets, Osteoarthritis OMIM:307800
Congenital Tufting Enteropathy
Punctate keratitis, Arthritis ORPHA:92050
Pneumonia, Folliculitis, Morbilliform rash, Osteomyelitis, Panniculitis, Skin rash, Peritonitis, ... ORPHA:228123
Hemophilia B
Joint hemorrhage, Osteoarthritis OMIM:306900
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Stiff ankle, Elbow flexion contracture, Premature osteoarthritis, D... ORPHA:93307
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Polymicrogyria, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia OMIM:619708
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Hematochezia, Mitral regurgitation, Hepatic arteriovenous malformation, Telangiectasia... OMIM:175050
Occipital Horn Syndrome
Hepatitis, Cholestasis, Esophagitis, Bladder diverticulum, Jaundice ORPHA:198
X-Linked Hypophosphatemia
Limitation of joint mobility, Rickets, Sacroiliac joint synovitis, Genu valgum, Generalized osteo... ORPHA:89936
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hip osteoarthritis, Limitation of joint mobility OMIM:313400
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Premature osteoarthritis, Flexion contracture, Recurrent pneumonia, Enlarged joints OMIM:215150
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Gout ORPHA:79233
Gaucher Disease Type 1
Osteopenia, Pathologic fracture, Increased circulating antibody level, Osteoarthritis, Osteoporos... ORPHA:77259
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Systemic lupus erythematosus, Autoimmunity, Skin rash, Antinuclear antibody... ORPHA:2298
Pneumonia, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute colitis... ORPHA:810
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal enchondral ossification, Premature osteoarthritis, Abno... ORPHA:93314
Igg4-Related Retroperitoneal Fibrosis
Antineutrophil antibody positivity, Rheumatoid arthritis, Systemic lupus erythematosus, Psoriasif... ORPHA:49041
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Lissencephaly, Recurrent lower respiratory tract infections, Atelectasis, Pachygyria ORPHA:258
Blau Syndrome
Posterior uveitis, Limitation of joint mobility, Keratitis, Polyarticular arthritis, Camptodactyl... ORPHA:90340
Idiopathic Camptocormia
Myositis, Myelitis, Osteoarthritis, Abnormal inflammatory response ORPHA:1320
Juvenile Dermatomyositis
Limitation of joint mobility, Autoimmunity, Skin rash, Myositis, Arthritis, Pericarditis ORPHA:93672
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Blepharitis, Keratitis, Eczematoid dermatitis, Autoimmunity,... ORPHA:906
Sitosterolemia 1
Arthritis, Impaired platelet aggregation OMIM:210250
Meier-Gorlin Syndrome 6
Emphysema, Recurrent respiratory infections, Simplified gyral pattern OMIM:616835
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis OMIM:249100
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Premature osteoarthritis, Joint hypermobility, Generalized bone ... ORPHA:93352
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Giant Cell Arteritis
Joint stiffness, Arthritis, Pericarditis ORPHA:397
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Recurrent pneumonia, Atelectasis, Emphysema, Pulmonary hypo... OMIM:613177
Alström Syndrome
Chronic kidney disease, Elevated gamma-glutamyltransferase level, Hepatosplenomegaly, Hepatic ste... ORPHA:64
Familial Mediterranean Fever
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis ORPHA:342
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Peripheral pulmonary artery stenosis, Pneumothorax, Recurrent pneumonia ORPHA:90349
Pneumonia, Arteritis, Stiff neck, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious enceph... ORPHA:533
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Pancreatitis, Myocardi... ORPHA:544482
Loeys-Dietz Syndrome 4
Emphysema, Pneumothorax OMIM:614816
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elev... OMIM:181000
Chondrocalcinosis, Anti-Mi2 antibody positivity, Heliotrope rash, Anti-transcription intermediary... ORPHA:221
Loeys-Dietz Syndrome 6
Hip osteoarthritis, Autoimmunity, Osteochondritis dissecans, Intervertebral disk degeneration, Jo... OMIM:619656
Trichorhinophalangeal Syndrome, Type I
Osteopenia, Osteoarthritis, Ivory epiphyses of the distal phalanges of the hand OMIM:190350
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Defective production of NFKB1-dependent cytokines, Splenomegaly, Recurrent respirat... OMIM:612132
Joint dislocation, Joint stiffness, Increased susceptibility to fractures, Joint swelling, Prosta... ORPHA:56
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Pleural effusion, Atelectasis OMIM:306400
Lmna-Related Cardiocutaneous Progeria Syndrome
Emphysema, Abnormality of the pulmonary artery ORPHA:363618
Aicardi-Goutières Syndrome
Increased circulating interferon-gamma concentration, Autoimmunity, Chilblains, Multiple joint co... ORPHA:51
Marshall Syndrome
Genu valgum, Osteoarthritis ORPHA:560
Acute pancreatitis, Gout ORPHA:412
Hereditary Spherocytosis
Maculopapular exanthema, Gout ORPHA:822
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Osteolytic defects of the phalanges of the hand, Arthritis OMIM:161700
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR... OMIM:130050
Chand Syndrome
Atelectasis ORPHA:1401
Glycogen Storage Disease Ia
Osteoporosis, Pancreatitis, Gout OMIM:232200
Autosomal Dominant Dopa-Responsive Dystonia
Rheumatoid arthritis, Progressive flexion contractures ORPHA:98808
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial nephritis, Gout OMIM:174000
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pulmonary fibrosis, Atelectasis OMIM:618278
Loeys-Dietz Syndrome 5
Joint hypermobility, Eosinophilic infiltration of the esophagus, Osteoarthritis, Congenital finge... OMIM:615582
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Polymicrogyria, Pulmonary artery atresia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Pleuritis ORPHA:31204
Glycogen Storage Disease Ib
Osteoporosis, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Repeated pneumothoraces, Atelectasis, Pulmonary hypoplasia ORPHA:536467
Chromosome 15Q11.2 Deletion Syndrome
Juvenile rheumatoid arthritis, Joint contracture, Elbow contracture OMIM:615656
Short-Rib Thoracic Dysplasia 12
Atelectasis, Pulmonary hypoplasia OMIM:269860
Multiple Osteochondromas
Limitation of joint mobility, Talipes valgus, Limited hip movement, Genu valgum, Femoroacetabular... ORPHA:321
Ellis Van Creveld Syndrome
Emphysema, Aplasia/Hypoplasia of the lungs ORPHA:289
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Inflammation of the large intestine, Periodontitis, Gout, Increased susceptibility to... ORPHA:79259
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Anasarca, Transient ischemic attack, Sponta... ORPHA:2929
Inflammation of the large intestine, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis, Carbun... ORPHA:707
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Osteomalacia, Joint stiffness, Genu valgum, Recurrent fractures, Joint swelling, J... ORPHA:534
Keutel Syndrome
Emphysema, Pulmonary artery hypoplasia, Peripheral pulmonary artery stenosis, Recurrent bronchitis OMIM:245150
Glycogen Storage Disease Ic
Inflammation of the large intestine, Gout, Stomatitis, Chronic pancreatitis OMIM:232240
Marburg Hemorrhagic Fever
Uveitis, Skin rash, Increased circulating antibody level, Orchitis, Pancreatitis, Arthritis, Macu... ORPHA:99826
22Q11.2 Deletion Syndrome
Multiple suture craniosynostosis, Impaired T cell function, Autoimmunity, Joint hypermobility, Se... ORPHA:567
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Arthritis, Joint hypermobility ORPHA:93111
Neonatal Marfan Syndrome
Emphysema ORPHA:284979
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant
Osteoarthritis OMIM:619714
Meier-Gorlin Syndrome 1
Emphysema OMIM:224690
Aneurysm-Osteoarthritis Syndrome
Camptodactyly of finger, Osteochondritis dissecans, Intervertebral disk degeneration, Joint hyper... ORPHA:284984
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory tract infection, Atelectasis ORPHA:365
Phosphoribosylpyrophosphate Synthetase Superactivity
Gout OMIM:300661
Hunter-Macdonald Syndrome
Joint contracture of the hand, Delayed cranial suture closure, Premature osteoarthritis, Cubitus ... OMIM:611962
Osteogenesis Imperfecta
Osteopenia, Fractures of the long bones, Genu valgum, Reduced bone mineral density, Increased sus... ORPHA:666
Rajab Interstitial Lung Disease With Brain Calcifications 1
Emphysema, Abnormal pulmonary interstitial morphology OMIM:613658
Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal lung... ORPHA:797
Autosomal Dominant Cutis Laxa
Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis ORPHA:90348
Mucopolysaccharidosis Type 2, Severe Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Flexion contracture, Limitation of joint mobility, Arthritis, Camptodactyly of finger ORPHA:217093
Marfan Syndrome