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Gene: Chd2 MGI:2448567

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Gene Summary

Name:
chromodomain helicase DNA binding protein 2
Synonyms:
2810013C04Rik,  2810040A01Rik,  5630401D06Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased body length Chd2tm1b(EUCOMM)Hmgu HOM Early adult 4.19×10-06
increased circulating alanine transaminase level Chd2tm1b(EUCOMM)Hmgu HOM Early adult 4.97×10-06
abnormal sinus arrhythmia Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.07×10-08
decreased bone mineral content Chd2tm1b(EUCOMM)Hmgu HOM Early adult 3.58×10-06
increased grip strength Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.46×10-12
decreased erythrocyte cell number Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.36×10-05
decreased hemoglobin content Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.49×10-05
decreased mean platelet volume Chd2tm1b(EUCOMM)Hmgu HOM   Early adult 7.47×10-06
decreased bone mineral density Chd2tm1b(EUCOMM)Hmgu HOM Early adult 5.91×10-05
increased circulating aspartate transaminase level Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.44×10-08
abnormal bone structure Chd2tm1b(EUCOMM)Hmgu HOM Early adult 4.87×10-06
short tibia Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.93×10-11

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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.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Histopathology

Images

2 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Human diseases caused by Chd2 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 Chd2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myoclonic-Astatic Epilepsy
Premature skin wrinkling, Microphthalmia ORPHA:1942
Developmental And Epileptic Encephalopathy 94
OMIM:615369
Lennox-Gastaut Syndrome
ORPHA:2382

The table below shows human diseases predicted to be associated to Chd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Drug Reaction With Eosinophilia And Systemic Symptoms
Cardiac arrest, Elevated hepatic transaminase, Eosinophilia, Erythroderma, Weight loss, Skin rash... ORPHA:139402
Legionnaires Disease
Hypotension, Respiratory insufficiency, Pericarditis, Bone marrow hypocellularity, Splenomegaly, ... ORPHA:549
Brucellosis
Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pericarditis, Glomerulonephritis, Ple... ORPHA:1304
Q Fever
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Pleural ef... ORPHA:781
Peripartum Cardiomyopathy
Pedal edema, Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Peripheral edema, Exer... ORPHA:563
Adult-Onset Still Disease
Hepatitis, Skin rash, Arthritis, Neutrophilia, Elevated hepatic transaminase, Generalized lymphad... ORPHA:829
Mixed Connective Tissue Disease
Keratoconjunctivitis sicca, Pericarditis, Myositis, Gastritis, Hepatomegaly, Prolonged bleeding t... ORPHA:809
Systemic Capillary Leak Syndrome
Hypotension, Pedal edema, Weight loss, Pulmonary edema, Multiple myeloma, Pericarditis, Pleural e... ORPHA:188
Scrub Typhus
Hypotension, Renal insufficiency, Skin rash, Abnormal bleeding, Lymphadenopathy, Restrictive vent... ORPHA:83317
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corti... ORPHA:731
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent otitis media, Failure to thrive, Lymphadenopathy, Autoimmune h... OMIM:618495
Chronic Beryllium Disease
Respiratory insufficiency, Weight loss, Abnormal proportion of CD4-positive T cells, Abnormal res... ORPHA:133
Listeriosis
Septic arthritis, Brain abscess, Peritonitis, Pericarditis, Loss of consciousness, Pneumonia, Spl... ORPHA:533
American Trypanosomiasis
Skin rash, Congestive heart failure, Periorbital edema, Edema, Lymphadenopathy, Dyspnea, Cough, H... ORPHA:3386
Liver Disease, Severe Congenital
Subvalvular aortic stenosis, Aminoaciduria, Systolic heart murmur, Elevated hepatic transaminase,... OMIM:619991
Propionic Acidemia
Cerebellar hemorrhage, Anemia, Limb hypertonia, Short stature, Coma, Eczema, Tachypnea, Pancytope... OMIM:606054
Congenital Enterovirus Infection
Hypotension, Polyhydramnios, Abnormal macrophage morphology, Pericardial effusion, Pleural effusi... ORPHA:292
Bacterial Toxic-Shock Syndrome
Hypotension, Septic arthritis, Fasciitis, Shock, Glomerulonephritis, Myositis, Capillary leak, Re... ORPHA:36234
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Crusting erythematous dermatitis, Cachexia, Elevated hepatic transaminase, Eczema, Myositis, Gast... ORPHA:37042
Fibular Hemimelia
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... ORPHA:93323
Whipple Disease
Hypotension, Respiratory insufficiency, Anemia, Pedal edema, Arthritis, Pleuritis, Cachexia, Uvei... ORPHA:3452
Pneumocystosis
Respiratory insufficiency, Respiratory failure, Chronic oral candidiasis, Weight loss, Exertional... ORPHA:723
Lujo Hemorrhagic Fever
Hypotension, Cerebral edema, Elevated hepatic transaminase, Shock, Crackles, Oliguria, Thrombocyt... ORPHA:319213
Dyskeratosis Congenita, Autosomal Dominant 1
Alopecia, Cirrhosis, Leukopenia, Anemia, Squamous cell carcinoma of the skin, Premature graying o... OMIM:127550
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Eosinophilia, Endocarditis, Abn... ORPHA:183
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Respiratory tract infection, Hemolytic anemia, Hepatitis, Recurrent otitis media, Lymphopenia, Au... ORPHA:444463
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricular hypert... ORPHA:860
Primary Sjögren Syndrome
Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr... ORPHA:289390
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gestational age, Jau... ORPHA:567983
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Short stature, Desquamative interstitial pneumonitis, Interstitial pneumonitis, Neutropenia in pr... OMIM:615952
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Eczema, Pulmonary hypoplasia, Superficial dermal perivascular inflammatory infiltrate, Cleft vert... ORPHA:83617
Immunodeficiency 40
Elevated circulating alanine aminotransferase concentration, Respiratory tract infection, Chronic... OMIM:616433
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Patent ductus arteriosus, Decreased methionine synthase activity... OMIM:614857
Acrocapitofemoral Dysplasia
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... OMIM:607778
X-Linked Lymphoproliferative Disease
T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon... ORPHA:2442
Igg4-Related Kidney Disease
Nephrotic range proteinuria, Pedal edema, Prostatitis, Sclerosing cholangitis, Pericarditis, Eosi... ORPHA:449395
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Bronchiectasis, Desquamative interstitial pneumonitis, Decreased DLCO,... OMIM:610913
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Anemia, Renal insufficiency, Coma, Respiratory distress, Failure to thrive, Thrombo... ORPHA:79312
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L... OMIM:118651
Malignant Atrophic Papulosis
Abnormal pericardium morphology, Ischemic stroke, Weight loss, Pleural effusion, Myocardial infar... ORPHA:679
Complete Atrioventricular Septal Defect
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... ORPHA:1329
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Absent o... OMIM:601376
Scleroderma
Flexion contracture, Fasciitis, Pericarditis, Facial palsy, Alopecia, Abnormal pulmonary intersti... ORPHA:801
Acute Interstitial Pneumonia
Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Peripheral edema, Decreased DLC... ORPHA:79126
Syndactyly Type 4
Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand... ORPHA:93405
Zygomycosis
Brain abscess, Pneumothorax, Fasciitis, Pericarditis, Pleural effusion, Gastritis, Hematological ... ORPHA:73263
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatic steatosis, Failure to thrive, Increased level of methylsuccinic aci... ORPHA:26792
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Sideroblastic anemia, Elevated hepatic transaminase, Respiratory distress... OMIM:613561
Staphylococcal Necrotizing Pneumonia
Hypotension, Leukopenia, Pneumothorax, Pleural empyema, Neutrophilia, Hypoxemia, Respiratory dist... ORPHA:36238
Avian Influenza
Pneumothorax, Productive cough, Elevated hepatic transaminase, Pleural effusion, Thrombocytopenia... ORPHA:454836
Shigellosis
Hemolytic-uremic syndrome, Dehydration, Thrombocytopenia, Pneumonia, Acute colitis, Abscess, Sple... ORPHA:810
Microsporidiosis
Brain abscess, Prostatitis, Cachexia, Biliary tract abnormality, Myositis, Decreased proportion o... ORPHA:2552
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Elevated hepatic transaminase, Generalized lymphadenopathy, Pleur... ORPHA:50918
Carcinoid Syndrome
Facial telangiectasia, Heart murmur, Asthma, Hepatic necrosis, Atypical pulmonary carcinoid tumor... ORPHA:100093
Sting-Associated Vasculopathy, Infantile-Onset
Malar rash, Leukopenia, Telangiectasia, Anemia, Skin rash, Raynaud phenomenon, Lymphopenia, Myosi... OMIM:615934
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pericardial effusion, Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Hepatomegal... ORPHA:26793
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... OMIM:201475
Crimean-Congo Hemorrhagic Fever
Hypotension, Hemoperitoneum, Pericardial effusion, Abnormal left ventricular function, Subdural h... ORPHA:99827
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Enlarged kidney, Failure to thrive, Hepatomegaly, Extramedullary hematopoiesi... OMIM:615285
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Decreased carnitine level in liver, Hypertrophic cardiomyopathy, Hepatomeg... OMIM:212140
Rigid Spine Syndrome
Respiratory insufficiency, Hyperlordosis, Hip contracture, Spinal rigidity, Elbow flexion contrac... ORPHA:97244
Primary Myelofibrosis
Anemia, Abnormal bleeding, Petechiae, Cachexia, Extramedullary hematopoiesis, Purpura, Pancytopen... ORPHA:824
Rheumatic Fever
Endocarditis, Respiratory insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Ab... ORPHA:3099
Recurrent Respiratory Papillomatosis
Respiratory insufficiency, Squamous cell carcinoma, Syncope, Respiratory distress, Recurrent pneu... ORPHA:60032
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Inter... ORPHA:231154
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Arthritis, Hemosiderin-laden ma... OMIM:616414
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Coronary Arterial Fistula
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... ORPHA:2041
Acromesomelic Dysplasia 2A
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... OMIM:200700
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Skin rash, Raynaud phenomenon, Congestive heart failu... ORPHA:206569
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... OMIM:610921
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatosple... ORPHA:231226
Immunodeficiency 59 And Hypoglycemia
High anterior hairline, Recurrent aphthous stomatitis, Herpes simplex encephalitis, Short stature... OMIM:233600
Antisynthetase Syndrome
Pulmonary arterial hypertension, Respiratory insufficiency, Abnormal pulmonary interstitial morph... ORPHA:81
Lymphoproliferative Syndrome, X-Linked, 2
Hypertriglyceridemia, Erythema nodosum, Hepatitis, Folliculitis, Pancytopenia, Inflammation of th... OMIM:300635
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification ORPHA:3319
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Neoplasm, Abnormality of the tonsils, Thrombocytopenia, Al... ORPHA:47
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Increased variability in muscle fiber diameter, Flexion contracture, Kyphosis, Spi... OMIM:300718
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Anemia, Petechiae, Extramedullary hematopoiesis, Abnormal bleedin... OMIM:612840
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Desquamative interstitial pneumonitis, Respiratory distress, Failure to thri... OMIM:263000
Immunodeficiency 104
T lymphocytopenia, Eczema, Chronic mucocutaneous candidiasis, Recurrent otitis media, Lymphadenop... OMIM:608971
Osebold-Remondini Syndrome
Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Dec... OMIM:112910
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Hepatomegaly, Dehydration, Lethargy, ... ORPHA:20
Sandhoff Disease
Kyphosis, Congestive heart failure, Failure to thrive, Hepatomegaly, Recurrent respiratory infect... ORPHA:796
Catastrophic Antiphospholipid Syndrome
Pulmonary arterial hypertension, Pulmonary embolism, Arterial occlusion, Transient ischemic attac... ORPHA:464343
Kawasaki Disease
Ascending tubular aorta aneurysm, Pericarditis, Cervical lymphadenopathy, Abnormal pulmonary inte... ORPHA:2331
Dermatomyositis
Respiratory insufficiency, Sinus tachycardia, Pericarditis, Inflammatory myopathy, Neoplasm, Chon... ORPHA:221
Felty Syndrome
Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal... ORPHA:47612
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Vasculitis in the skin, Elevated circulating C-reactive protein concentration, Dec... OMIM:617718
Wilson Disease
Back pain, Cirrhosis, Proximal muscle weakness in lower limbs, Anemia, Weight loss, Hepatitis, Ar... ORPHA:905
Holocarboxylase Synthetase Deficiency
Alopecia, Weight loss, Keratoconjunctivitis, Coma, Eczema, Respiratory distress, Perioral eczema,... ORPHA:79242
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Lacticaciduria, Hepatomegaly, Decreased liver function, Scapular w... ORPHA:26791
Congenital Myopathy 2A, Typical, Autosomal Dominant
Respiratory insufficiency, Hyperlordosis, Polyhydramnios, Spinal rigidity, Dilated cardiomyopathy... OMIM:161800
Thrombocytopenia 3
Epistaxis, Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Congenital Bile Acid Synthesis Defect Type 2
Hepatic failure, Jaundice, Extramedullary hematopoiesis, Elevated hepatic transaminase, Abnormal ... ORPHA:79303
Thrombocytopenia 1
Epistaxis, Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytop... OMIM:313900
Hemochromatosis, Type 2A
Cirrhosis, Arthritis, Congestive heart failure, Dilated cardiomyopathy, Hepatomegaly, Arrhythmia,... OMIM:602390
Acromesomelic Dysplasia 2C
Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc... OMIM:201250
Pauci-Immune Glomerulonephritis
Nephrotic range proteinuria, Scleritis, Glomerulonephritis, Macroscopic hematuria, Microscopic he... ORPHA:93126
Interstitial Lung Disease 1
Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev... OMIM:619611
Rat-Bite Fever
Endocarditis, Septic arthritis, Lymphadenitis, Oligoarthritis, Maculopapular exanthema, Back pain... ORPHA:31205
Acromesomelic Dysplasia, Grebe Type
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... ORPHA:2098
Beta-Thalassemia Intermedia
Hepatocellular carcinoma, Hepatosplenomegaly, Hypoparathyroidism, Hepatomegaly, Decreased liver f... ORPHA:231222
Aspergillosis
Bronchiectasis, Pleural effusion, Hematological neoplasm, Eosinophilia, Pneumonia, Abnormality on... ORPHA:1163
Beta-Thalassemia Major
Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatosplenomegaly, Hypoparathyroidism, ... ORPHA:231214
Extracranial Carotid Artery Aneurysm
Abnormality of connective tissue, Cerebral ischemia, Atherosclerosis, Arterial fibromuscular dysp... ORPHA:494424
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss, Recurrent pneumonia, Dyspnea, Cough ORPHA:64741
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Dilated cardiomyopathy, Respiratory distress, Hypertrophic cardiomyopa... OMIM:614299
Systemic Sclerosis
Flexion contracture, Pericarditis, Glomerulonephritis, Recurrent skin infections, Alopecia, Abnor... ORPHA:90291
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Vascular dilatation, Severe platyspondyly, Short stature, Small ... OMIM:613320
Leri-Weill Dyschondrosteosis
Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Limited elb... OMIM:127300
Pleural Mesothelioma
Abnormal pleura morphology, Weight loss, Abnormal respiratory system physiology, Respiratory dist... ORPHA:50251
Microphthalmia, Syndromic 12
Microphthalmia, Hypoplastic left atrium, Anophthalmia, Ventricular septal defect OMIM:615524
Relapsing Polychondritis
Scleritis, Large vessel vasculitis, Inflammatory abnormality of the eye, Pericarditis, Abnormal p... ORPHA:728
Nemaline Myopathy 2
Muscle fiber splitting, Polyhydramnios, Flexion contracture, Nemaline bodies, Slender build, Arth... OMIM:256030
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti... OMIM:613812
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Léri-Weill Dyschondrosteosis
Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality... ORPHA:240
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory insufficiency, Ventricular hypertrophy, Reticulocytosis, Hepatosplenomegaly, Hepatome... OMIM:618278
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... ORPHA:45452
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Abnormal left ventricular function, Palpitations, Upper limb muscle wea... ORPHA:892
Ghosal Hematodiaphyseal Dysplasia
Anemia, Abnormal cortical bone morphology, Craniofacial hyperostosis, Abnormal pelvic girdle bone... ORPHA:1802
Idiopathic Hypereosinophilic Syndrome
Myelodysplasia, Supraventricular arrhythmia, Elevated hepatic transaminase, Eczema, Generalized l... ORPHA:3260
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Epistaxis, Increased RBC distribution width, Thr... OMIM:314050
Myosclerosis, Autosomal Recessive
Thoracolumbar scoliosis, Short stature, Spinal rigidity, Achilles tendon contracture, Neck joint ... OMIM:255600
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... ORPHA:217563
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Hepatic necrosis, Elevated hepatic transaminase, Dil... ORPHA:71212
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Pulmonary edema, Postnatal growth retardation, Supraventricular ar... ORPHA:75249
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Decreased response to growth hormone stimulation test, Respiratory distress, Failure to thrive, S... OMIM:245590
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary artery... ORPHA:3342
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Knee flexion contracture, Hip contracture, Congenital foot contractures, Short stature, Scoliosis... OMIM:602484
Lethal Faciocardiomelic Dysplasia
Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp... ORPHA:1972
Typhoid
Abnormal pulmonary interstitial morphology, Coma, Cardiac arrest, Skin rash, Epistaxis, Cough, Ga... ORPHA:99745
Primary Pulmonary Hypoplasia
Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, Pulmonary ... ORPHA:2257
Mercury Poisoning
Hypotension, Acute kidney injury, Interstitial pneumonitis, Hypertension, Respiratory distress, D... ORPHA:330021
Bleeding Disorder, Platelet-Type, 24
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:619271
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Acute kidney injury, Sk... ORPHA:542323
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Exertional dyspnea, Elevated urinary 3-hydroxybutyric acid, Coma, Cachexia... ORPHA:42
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Hypoxemia, Respiratory distress, Diffuse alveolar hem... ORPHA:178320
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Testicular microlithiasis, Pneumothorax, Bronchiectasis, Oxygen desatu... ORPHA:60025
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Butterfly vertebrae, Hypoplastic cervical vertebrae, Pulmonary artery steno... ORPHA:79345
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Weight loss, B-cell lymphoma ORPHA:52416
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... ORPHA:264675
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Vitamin B12-Unresponsive Methylmalonic Acidemia
Respiratory insufficiency, Leukopenia, Anemia, Coma, Thrombocytopenia, Hepatomegaly, Macrocytic a... ORPHA:27
Beta-Thalassemia
Respiratory insufficiency, Anemia, Hepatitis, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelit... ORPHA:848
Polymyositis
Respiratory insufficiency, Pericarditis, Hypertrophic cardiomyopathy, Hepatomegaly, Chondrocalcin... ORPHA:732
Beta-Ketothiolase Deficiency
Hypotension, Weight loss, Ketonuria, Coma, Hypertension, Dehydration, Excessive daytime somnolenc... ORPHA:134
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Epi... OMIM:155100
Bleeding Disorder, Platelet-Type, 16
Anemia, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocyto... OMIM:187800
Acromesomelic Dysplasia, Maroteaux Type
Hyperlordosis, Kyphosis, Vertebral wedging, Disproportionate short stature, Ovoid vertebral bodie... ORPHA:40
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... ORPHA:330001
African Iron Overload
Hepatic fibrosis, Increased circulating cortisol level, Hepatitis, Hepatocellular carcinoma, Cong... ORPHA:139507
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Cellulitis, Interstitial pneumonitis, Ulcerative colitis, Recurrent sinopulmonary ... OMIM:614878
Schimke Immuno-Osseous Dysplasia
Nephrotic range proteinuria, Ischemic stroke, Atherosclerosis, Short neck, Ovoid vertebral bodies... ORPHA:1830
Cardiocranial Syndrome, Pfeiffer Type
Plantar flexion contracture, Short stature, Episodic tachypnea, Torticollis, Intrauterine growth ... ORPHA:2872
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Tubulointerstitial nephritis, Leukopenia, Stage 5 chronic kidney disease, ... OMIM:251000
Multiple Carboxylase Deficiency
Alopecia, Coma, Decreased circulating biotinidase concentration, Skin rash, Respiratory distress,... ORPHA:148
Autosomal Agammaglobulinemia
Conjunctivitis, Osteomyelitis, Recurrent respiratory infections, Bronchiectasis, Cellulitis, Hepa... ORPHA:33110
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Peripheral ... ORPHA:99106
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,... OMIM:617222
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Shortened PR interval, Hepatomegaly, Loss of consciousness, Letha... ORPHA:137675
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Short stature, Hepatitis, Hypersplenism, Camptodactyly, Pancytopenia,... OMIM:613385
Gm1 Gangliosidosis
Camptodactyly of finger, Hepatosplenomegaly, Hirsutism, Splenomegaly, Abnormal form of the verteb... ORPHA:354
Lethal Infantile Mitochondrial Myopathy
Neonatal respiratory distress, Fatal liver failure in infancy, Renal insufficiency, Lethargy, Car... ORPHA:254857
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Neoplasm of the skin, Reticulocytosis... ORPHA:3261
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Elevated circulating ... OMIM:619386
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Increased adipose tissue, Kyphosis, Short stature, Spinal rigidity, Scoliosis OMIM:617404
Vexas Syndrome
Inflammatory abnormality of the skin, Myelodysplasia, Arthritis, Neutrophilic infiltration of the... OMIM:301054
Cystic Echinococcosis
Abnormal subpleural morphology, Abnormality of the testis size, Elevated hepatic transaminase, Ab... ORPHA:400
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Cholesteatoma, Oxygen desaturation on exertion, Crackles, Wheezing, Vent... OMIM:610978
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Synophrys, Long eyelashes, Elevated hepatic transaminase, Hepato... OMIM:619064
Symptomatic Form Of Hemochromatosis Type 1
Cirrhosis, Decreased muscle mass, Weight loss, Elevated jugular venous pressure, Arthritis, Hepat... ORPHA:465508
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Hepatitis, Decreased proportion of CD3-positive T cells, Lymphopenia, H... ORPHA:169160
Renal-Hepatic-Pancreatic Dysplasia 1
Asplenia, Biliary cirrhosis, Malformation of the hepatic ductal plate, Pulmonary hypoplasia, Hepa... OMIM:208540
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis, Anemia, Abnormal mitral valve morphology, Nephrotic syndrome, Short stature, Hyper... ORPHA:1192
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Anemia, Restrictive cardiomyopathy, Spontane... ORPHA:822
Hardikar Syndrome
Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis... OMIM:301068
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Immunodeficiency 18
Recurrent respiratory infections, Lymphopenia, Recurrent otitis media, Decreased proportion of CD... OMIM:615615
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Aplas... ORPHA:3426
Colchicine Poisoning
Hypotension, Alopecia, Hypovolemia, Cardiogenic shock, Congestive heart failure, Respiratory dist... ORPHA:31824
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Hurler-Scheie Syndrome
Rhinitis, Hernia, Short stature, Abnormal heart valve morphology, Spinal canal stenosis, Abnormal... ORPHA:93476
Infection-Related Hemolytic Uremic Syndrome
Nephrotic range proteinuria, Septic arthritis, Brain abscess, Oliguria, Thrombocytopenia, Pneumon... ORPHA:544482
Eiken Syndrome
Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Thin bony cortex, Abnor... ORPHA:79106
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Weight loss, Lymphedema, Intracranial hemorrhage, Bruising susc... ORPHA:3226
Vitamin B12-Responsive Methylmalonic Acidemia
Respiratory insufficiency, Anemia, Coma, Failure to thrive, Hepatomegaly, Dehydration, Renal insu... ORPHA:28
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ... OMIM:251880
Congenital Tricuspid Valve Dysplasia
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Small for gestational age, Pericardial... ORPHA:555874
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Spinal rigidity, Cachexia, Congest... ORPHA:157973
Takayasu Arteritis
Pulmonary arterial hypertension, Anemia, Ascending tubular aorta aneurysm, Vascular dilatation, C... ORPHA:3287
Biotinidase Deficiency
Conjunctivitis, Alopecia, Skin rash, Decreased circulating biotinidase concentration, Apnea, Orga... OMIM:253260
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Hypertrophic cardiomyopathy, Lethargy, Failure to thrive OMIM:618228
Immunodeficiency 52
Bronchiectasis, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia, Ly... OMIM:617514
Hyperinsulinism Due To Ucp2 Deficiency
Drowsiness, Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypertrophi... ORPHA:276556
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic ... OMIM:231530
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory insufficiency, Elevated hepatic transaminase, Hepatic steatosis, Slender build, Decre... OMIM:613658
Hepatocellular Carcinoma
Hypotension, Pedal edema, Elevated hepatic transaminase, Neoplasm, Hepatomegaly, Thrombocytopenia... ORPHA:88673
Immunodeficiency 48
Recurrent respiratory infections, Failure to thrive, Absence of CD8-positive T cells, Hepatomegal... OMIM:269840
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss, Hamartoma, Respiratory distress, Upper airway obstruction, Dys... ORPHA:141152
Infant Acute Respiratory Distress Syndrome
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... ORPHA:70587
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Reduced left ventricular ejection fraction, Left ventricular noncompact... OMIM:616501
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi... ORPHA:63273
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
T lymphocytopenia, Bronchiectasis, Eczema, Hepatosplenomegaly, Carotid artery dilatation, Esophag... ORPHA:391487
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Drowsiness, Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypertrophi... ORPHA:276575
Congenital Disorder Of Glycosylation, Type It
Sudden cardiac death, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated ci... OMIM:614921
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Atherosclerosis, Hepatic failure, Myocarditis, Odontoma ORPHA:2724
Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98853
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Abnormal pulmonary interstitial morphology, Recurrent respiratory... OMIM:607616
Sclerosing Cholangitis, Neonatal
Vesicoureteral reflux, Biliary cirrhosis, Cirrhosis, Hepatic failure, Sclerosing cholangitis, Jau... OMIM:617394
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Aminoaciduria, Elevated hepatic transaminase, Reduced renal corticomedullary differentiation, Deh... OMIM:208085
Wiskott-Aldrich Syndrome
Small vessel vasculitis, Large vessel vasculitis, Absent microvilli on the surface of peripheral ... OMIM:301000
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Spondylolysis, Spondylolisthesis at L5-S1, Short stature, Hand muscle atrophy, Lumbar hyperlordos... OMIM:600561
Mucolipidosis Type Iii
Hyperlordosis, Short stature, Abnormal aortic valve morphology, Inguinal hernia, Abnormal heart v... ORPHA:577
Lipodystrophy, Congenital Generalized, Type 4
Flexion contracture, Elevated hepatic transaminase, Hepatic steatosis, Hirsutism, Skeletal muscle... OMIM:613327
Hemochromatosis, Neonatal
Hepatic failure, Hepatic fibrosis, Cirrhosis, Hepatocellular necrosis, Abnormal bleeding, Nonimmu... OMIM:231100
Hodgkin Lymphoma
Lymphoma, Weight loss, Lymphadenopathy, Neoplasm, Dyspnea, Hepatomegaly, Cough, Splenomegaly ORPHA:98293
Methylcobalamin Deficiency Type Cble
Hemolytic-uremic syndrome, Abnormality of the liver, Drowsiness, Hypertension, Pancytopenia, Fail... ORPHA:2169
Simple Cryoglobulinemia
Pericarditis, Viral hepatitis, Microscopic hematuria, B-cell lymphoma, Chronic lymphatic leukemia... ORPHA:91139
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Heart murmur, Diffuse alveolar hemorrhage, Hepatosplenomegaly,... ORPHA:99931
Griscelli Syndrome
Leukopenia, Pedal edema, Abnormal eyebrow morphology, Premature graying of hair, Short stature, H... ORPHA:381
X-Linked Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Hypertrophic cardio... ORPHA:98863
Myopathy, Distal, 1
Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur... OMIM:160500
Immunodeficiency 27A
Anemia, Weight loss, Hepatosplenomegaly, Abnormal bronchus physiology, Lymphadenopathy, Histiocyt... OMIM:209950
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Nephrotic syndrome, Fair hair, Congestive heart failure, Failure to thrive, Hepa... OMIM:269920
Spinal Muscular Atrophy, Infantile, James Type
Respiratory insufficiency, Increased variability in muscle fiber diameter, Hip contracture, Lower... OMIM:619042
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphoma, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Reduced nat... ORPHA:276
Graft Versus Host Disease
Inflammatory abnormality of the eye, Fasciitis, Elevated hepatic transaminase, Hepatosplenomegaly... ORPHA:39812
Rhabdoid Tumor
Respiratory insufficiency, Anemia, Neoplasm of the central nervous system, Weight loss, Sarcoma, ... ORPHA:69077
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory insufficiency, Left ventricular outflow tract obstruction, Flexion contracture, Hyper... ORPHA:365
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Lowe... OMIM:615290
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Drowsiness, Syncope, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypertrophi... ORPHA:276580
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Aicardi-Goutieres Syndrome 7
Pericardial effusion, Generalized lymphadenopathy, Hepatic steatosis, Hypertrophic cardiomyopathy... OMIM:615846
Scorpion Envenomation
Cardiogenic shock, Abnormal nasal mucus secretion, Ketonuria, Acute kidney injury, Purpura, Acute... ORPHA:466677
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cardiomyopathy, Limb-girdle muscle weakness, Increased variability in muscle fiber diameter, Cent... ORPHA:86812
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Peripheral edema, Hepatomegaly, T... ORPHA:57777
Citrullinemia Type I
Hepatic failure, Coma, Torticollis, Failure to thrive, Loss of consciousness, Lethargy, Tachypnea ORPHA:247525
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Increased variability in muscle fiber diameter, Fatty replacement of skeletal musc... ORPHA:52430
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis, Lymphocytic interstitial pneumonia OMIM:247610
Alstrom Syndrome
Chronic active hepatitis, Atherosclerosis, Elevated hepatic transaminase, Hepatic steatosis, Hepa... OMIM:203800
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Urinary incontinence, Denervation of the diaphragm, Spinal muscular atro... OMIM:604320
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy, Growth delay, Short stature OMIM:618573
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Coma, Respiratory distress, Thrombocytopenia, Growth delay, Hepatomegaly, Lethargy, Renal... ORPHA:289916
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets OMIM:137560
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Calf muscle hypertrophy, Thoracic kyphosis, Absent muscle dystrophin expression, Elbow flexion co... ORPHA:206546
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary hypoplasia, Tachycardia, Pulmonary artery... ORPHA:3384
Isolated Glycerol Kinase Deficiency
Hyperlordosis, Scoliosis, Short stature, Cryptorchidism ORPHA:408
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Immunodeficiency 51
Recurrent cutaneous fungal infections, Chronic oral candidiasis, Recurrent respiratory infections... OMIM:613953
Schimke Immunoosseous Dysplasia
Short neck, Ovoid vertebral bodies, Coarse hair, Thrombocytopenia, Disproportionate short-trunk s... OMIM:242900
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Delirium, Cerebral ischemia, Myelodysplasia, Coma, Drowsiness, Respiratory distress, Failure to t... ORPHA:927
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased liver functio... OMIM:246900
Hemorrhagic Fever-Renal Syndrome
Hypotension, Decreased body weight, Acute tubulointerstitial nephritis, Elevated hepatic transami... ORPHA:340
Cocaine Intoxication
Hypotension, Pneumothorax, Ischemic stroke, Delirium, Ventricular arrhythmia, Supraventricular ar... ORPHA:90068
Langer Mesomelic Dysplasia
Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin... OMIM:249700
Primary Sclerosing Cholangitis
Spider hemangioma, Elevated alkaline phosphatase of hepatic origin, Hepatocellular carcinoma, Ele... ORPHA:171
Carcinoma Of Esophagus
Weight loss, Esophageal neoplasm, Lymphadenopathy, Cough, Obesity, Barrett esophagus ORPHA:70482
Dna2-Related Mitochondrial Dna Deletion Syndrome
Hyperlordosis, Limb-girdle muscle weakness, Multiple joint contractures, Exertional dyspnea, Myop... ORPHA:352470
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Recurrent respiratory infections, Bronchiectasis, Recurrent br... OMIM:300853
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Respiratory insufficiency, Hyperlordosis, Flexion contracture, Muscular dystrophy, Congenital mus... OMIM:613156
Leigh Syndrome
Respiratory insufficiency, Hepatocellular necrosis, Failure to thrive, Abnormal pattern of respir... OMIM:256000
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Decreased cervical ... ORPHA:98855
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory insufficiency, Hydrops fetalis, Rhabdomyolysis, Small for gestational age, Elevated h... OMIM:609015
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Lethargy, Hepatomegaly OMIM:618224
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Abnormal cardiac ventricular function, Increased urine alpha-ketoglutarate conce... ORPHA:2394
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Mogs-Cdg
Alopecia, Polyhydramnios, Hypoventilation, Thoracic scoliosis, Pulmonary edema, Fair hair, Long e... ORPHA:79330
Mucopolysaccharidosis, Type Vii
Flexion contracture, Chronic bronchitis, Hirsutism, Short neck, Airway obstruction, Hepatomegaly,... OMIM:253220
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Nonimmune hydrops fetalis, Hepatomegaly, Intrauterine growth retardation, Jo... OMIM:608540
Roifman Syndrome
Biconvex vertebral bodies, Irregular vertebral endplates, Hip contracture, Ventricular septal def... OMIM:616651
Bernard-Soulier Syndrome
Epistaxis, Thrombocytopenia, Gastrointestinal hemorrhage, Giant platelets, Macrothrombocytopenia,... OMIM:231200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Hyperlordosis, Muscle fiber splitting, Flexion contracture, Increased variability in muscle fiber... OMIM:253700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Paroxysmal atrial tachycardia, Short stature, Cardiac arrest, Congestive he... ORPHA:49827
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Irregular vertebral endplates, Thoracic kyphosis, Scoliosis, Plat... OMIM:609223
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Episodic tachypnea, Small for gestational age, Elevated hepatic transaminase, Atrial septal defec... OMIM:615160
Aicardi-Goutieres Syndrome 9
Pericardial effusion, Elevated hepatic transaminase, Hepatosplenomegaly, Pericarditis, Hepatic st... OMIM:619487
Bone Dysplasia, Lethal Holmgren Type
Patent ductus arteriosus, Respiratory insufficiency, Anemia, Hernia, Rhizomelia, Weight loss, Atr... ORPHA:1842
Rh Deficiency Syndrome
Stomatocytosis, Hemolytic anemia, Jaundice, Hypoxemia, Reticulocytosis, Hepatosplenomegaly, Oligo... ORPHA:71275
Joubert Syndrome 9
Hepatic fibrosis, Episodic tachypnea, Stage 5 chronic kidney disease, Apnea, Scoliosis OMIM:612285
Gaucher Disease Type 1
Pedal edema, Pericardial effusion, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal pulmona... ORPHA:77259
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Dilated cardiomyopathy, Ventricular tachycardia, Hepatomegaly, Inc... OMIM:600649
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia, Episodic tachypnea, Abnormal circulating enzyme concentration or activity, ... ORPHA:79264
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Cirrhosis, Chronic oral candidiasis, Hemolytic anemia, Hepatitis, Scler... OMIM:308230
Joubert Syndrome 7
Neonatal breathing dysregulation, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst,... OMIM:611560
Carnitine Palmitoyl Transferase 1A Deficiency
Sudden cardiac death, Hepatic failure, Renal tubular acidosis, Coma, Elevated hepatic transaminas... ORPHA:156
Babesiosis
Respiratory insufficiency, Leukopenia, Hepatic failure, Hemolytic anemia, Coma, Jaundice, Recurre... ORPHA:108
Fructose-1,6-Bisphosphatase Deficiency
Episodic tachypnea, Intermittent hyperventilation, Coma, Drowsiness, Apneic episodes in infancy, ... ORPHA:348
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Anemia, Calcinosis, Hyperphosphaturia, Failure to thrive, Polyuria, Dyspnea, Hepat... OMIM:239200
African Trypanosomiasis
Delirium, Abnormality of circulating cortisol level, Iritis, Hepatosplenomegaly, Pericarditis, He... ORPHA:3385
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Respiratory insufficiency, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Or... OMIM:255100
Idiopathic Achalasia
Bronchitis, Weight loss, Recurrent aspiration pneumonia, Cough, Wheezing ORPHA:930
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Coma, Failure to thrive, Respiratory failure, Lethargy, Tachypnea OMIM:615838
Congenital Myopathy 4A, Autosomal Dominant
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively s... OMIM:255310
Neuraminidase Deficiency
Hydrops fetalis, Short stature, Ascites, Urinary excretion of sialylated oligosaccharides, Increa... OMIM:256550
Weismann-Netter Syndrome
Anemia, Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bow... ORPHA:3344
Neuronopathy, Distal Hereditary Motor, Type Viii
Knee flexion contracture, Hyperlordosis, Hip contracture, Spinal muscular atrophy, Kyphosis, Dist... OMIM:600175
Sitosterolemia 1
Reduced haptoglobin level, Stomatocytosis, Anemia, Arthritis, Giant platelets, Reticulocytosis, I... OMIM:210250
Bronchial Neuroendocrine Tumor
Hypotension, Facial telangiectasia, Cardiogenic shock, Palpitations, Hepatomegaly, Pneumonia, Non... ORPHA:97287
Alveolar Echinococcosis
Pedal edema, Biliary cirrhosis, Low back pain, Eosinophilia, Decreased liver function, Weight los... ORPHA:284
Macrophage Activation Syndrome
Abnormal natural killer cell count, Elevated circulating alanine aminotransferase concentration, ... ORPHA:158061
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Osteomyelitis leading to amputation due to slow healing fractures, Hepatocellular carcinoma, Hepa... OMIM:256810
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Intrahepatic biliary atresia, Alopecia, Sparse eyebrow, Hepatic fibrosis, Hepatic failure, Enamel... OMIM:607626
Cryoglobulinemic Vasculitis
Abnormality of the liver, Petechiae, Arthritis, Keratoconjunctivitis sicca, Hematuria, Purpura, V... ORPHA:91138
Meckel Syndrome, Type 7
Patent ductus arteriosus, Pancreatic cysts, Biliary cirrhosis, Multicystic kidney dysplasia, Stag... OMIM:267010
Lymphoid Interstitial Pneumonia
Bronchiectasis, Keratoconjunctivitis sicca, Eczema, Crackles, Multiple pulmonary cysts, Hepatomeg... ORPHA:79128
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... OMIM:265120
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Flexion contracture, Lumbar kyphosis, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Short neck... ORPHA:505248
Pelger-Huet Anomaly
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Hyposegmentation... OMIM:169400
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Myocardial infarction, Giant platelets, Congenital thrombocytop... ORPHA:182050
Autoimmune Hepatitis
Spider hemangioma, Cirrhosis, Fulminant hepatitis, Arthritis, Sclerosing cholangitis, Thyroiditis... ORPHA:2137
Congenital Toxoplasmosis
Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Hepatomegaly, Cardiome... ORPHA:858
Congenital Myopathy 8
Respiratory insufficiency, Increased variability in muscle fiber diameter, Muscle fiber atrophy, ... OMIM:618654
Multiple Acyl-Coa Dehydrogenase Deficiency
Proximal tubulopathy, Renal cortical cysts, Glycosuria, Jaundice, Polycystic kidney dysplasia, Re... OMIM:231680
Pseudo-Torch Syndrome 2
Patent ductus arteriosus, Respiratory insufficiency, Cerebral hemorrhage, Petechiae, Ascites, Sec... OMIM:617397
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Abnormal pleura morphology, Hydrops fetalis, Lymphedema, He... ORPHA:584
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S... ORPHA:437572
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Grayish enamel, Lumbar kyphosis, Keratan sulfate excretio... OMIM:253000
Mitochondrial Trifunctional Protein Deficiency
Respiratory insufficiency, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyolysis, Lower limb... ORPHA:746
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Chronic bronchitis, Bronchiectasis, Wheezing, Elevated hepatic transaminase, Hepatocel... OMIM:613490
Developmental And Epileptic Encephalopathy 40
Lethargy, Intrauterine growth retardation OMIM:617065
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Biliary, Renal, Neurologic, And Skeletal Syndrome
Atrioventricular canal defect, Biliary cirrhosis, Polyhydramnios, Unbalanced atrioventricular can... OMIM:619534
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, Growth d... OMIM:619164
Isolated Biliary Atresia
Dark yellow urine, Elevated hepatic transaminase, Hepatomegaly, Xanthelasma, Decreased liver func... ORPHA:30391
Al Amyloidosis
Hypertrophic cardiomyopathy, Peripheral edema, Hepatomegaly, Abnormal P wave, Pulmonary interstit... ORPHA:85443
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell receptor excis... OMIM:602450
Hyperinsulinism Due To Hnf1A Deficiency
Drowsiness, Small for gestational age, Syncope, Large for gestational age, Hypoglycemic coma, Pal... ORPHA:324575
Spondyloenchondrodysplasia
Enchondroma, Disproportionate short-trunk short stature, Pneumonia, Juvenile rheumatoid arthritis... ORPHA:1855
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Interosseus muscle atrophy, Spinal muscular atrophy, Reduced vital capacity, Dista... OMIM:607088
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Hepatomegaly, Myeloproliferative disorder, Eosi... OMIM:607685
Isolated Sedoheptulokinase Deficiency
Anemia, Flexion contracture, Diastasis recti, Renal insufficiency, Short stature, Hepatitis, Neon... ORPHA:440713
Sickle Cell Anemia
Osteomyelitis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Increased mean corpuscular volu... ORPHA:232
Acheiropody
Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas... OMIM:200500
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera... OMIM:613027
Follicular Lymphoma
Lymphoma, Weight loss, Lymphedema, Abnormality of the peritoneum, Pleural effusion, Lymphadenopat... ORPHA:545
Purine Nucleoside Phosphorylase Deficiency
Lymphoma, Neutropenia in presence of anti-neutropil antibodies, Pure red cell aplasia, Cerebral v... OMIM:613179
Slc35A2-Cdg
Camptodactyly of finger, Short tibia, Hip subluxation, Coxa valga, Abnormal long bone morphology,... ORPHA:356961
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Exertional dyspnea, Pulmonary edema,... ORPHA:199241
Galactose Epimerase Deficiency
Aminoaciduria, Weight loss, Jaundice, Growth delay, Hepatomegaly, Splenomegaly ORPHA:79238
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Calf muscle hypertrophy, Nocturnal hypoventilation, Ex... OMIM:607155
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Hepatitis, Jaundice, Emphysema, Hepatomegaly ORPHA:60
Trimethylaminuria
Anemia, Trimethylaminuria, Hypertension, Tachycardia, Recurrent pneumonia, Neutropenia, Splenomegaly OMIM:602079
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Hemolytic-uremic syndrome, Perianal abscess, Bronchiectasis, Impaired neu... ORPHA:2968
Ethylene Glycol Poisoning
Hypotension, Cerebral edema, Shock, Gastritis, Abnormal pattern of respiration, Facial palsy, Com... ORPHA:31826
Halothane Hepatitis
Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity OMIM:234350
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Respiratory insufficiency, Elbow flexion contracture, Elevate... OMIM:608836
Kaposi Sarcoma
Abnormality of the liver, Weight loss, Neoplasm by anatomical site, Lymphedema, Skin rash, Genera... ORPHA:33276
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hemochromatosis, Type 1
Alopecia, Cirrhosis, Telangiectasia, Hepatocellular carcinoma, Congestive heart failure, Elevated... OMIM:235200
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteomyelitis, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis, Chronic rhinit... OMIM:259710
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Polyhydramnios, Flexion contracture, Increased mu... ORPHA:171439
Immunodeficiency 24
Respiratory tract infection, Reduced proportion of mucosal-associated invariant T cells, Decrease... OMIM:615897
Aggressive Systemic Mastocytosis
Hypotension, Hepatosplenomegaly, Hematological neoplasm, Decreased liver function, Thrombocytopen... ORPHA:98850
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Hyperlordosis, Spinal muscular atrophy, Joint contracture of the hand, Scapuloperoneal amyotrophy... OMIM:611067
Combined Oxidative Phosphorylation Deficiency 37
Respiratory insufficiency, 3-Methylglutaconic aciduria, Respiratory failure, Elevated hepatic tra... OMIM:618329
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Coma, Elevat... OMIM:255120
Dengue Fever
Hypotension, Leukopenia, Cerebral hemorrhage, Petechiae, Skin rash, Bruising susceptibility, Epis... ORPHA:99828
Acute Liver Failure
Hypotension, Cerebral edema, Elevated hepatic transaminase, Shock, Abnormal pattern of respiratio... ORPHA:90062
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Coma, Cardiac arrest, Elevated hepatic tran... OMIM:212138
Absence Of The Pulmonary Artery
Pedal edema, Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum m... ORPHA:980
Nephronophthisis 19
Hepatic fibrosis, Stage 5 chronic kidney disease, Malformation of the hepatic ductal plate, Bile ... OMIM:616217
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Enamel hypoplasia, Polyhydramnios, Enterocolitis, Ventricular septal defect, Hypoplasia of the th... OMIM:243150
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... OMIM:602347
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Dyspnea, Growth delay, Lethargy, Intrauterine growth retardation, Tachypnea ORPHA:765
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Sialidosis Type 2
Pedal edema, Flexion contracture, Hydrops fetalis, Kyphosis, Short stature, Inguinal hernia, Neph... ORPHA:87876
Caroli Syndrome
Elevated hepatic transaminase, Cholangiocarcinoma, Hepatomegaly, Hematemesis, Abnormality of the ... ORPHA:480520
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Weight loss, Lymphadenopathy, Hepatomegaly, Splenomegaly, B-cell lymp... ORPHA:86893
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Patent foramen ovale, Hyperlordosis, Exertional dyspnea, Generalized amyotrophy, Pelvic girdle mu... OMIM:615156
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Cirrhosis, Short stature, Hepatocellular carcinoma, Elevated hepatic transamina... ORPHA:369
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microve... OMIM:615395
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Confusion, Lethargy ORPHA:71277
Methylmalonic Acidemia With Homocystinuria Type Cblf
Methylmalonic aciduria, Megaloblastic anemia, Skin rash, Stomatitis, Unilateral renal agenesis, R... ORPHA:79284
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Mucopolysaccharidosis, Type Vi
Flexion contracture, Sinus tachycardia, Anterior wedging of L2, Hirsutism, Ovoid vertebral bodies... OMIM:253200
Melioidosis
Septic arthritis, Respiratory tract infection, Brain abscess, Prostatitis, Cellulitis, Hepatitis,... ORPHA:31202
Myopathy, X-Linked, With Postural Muscle Atrophy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Back pain, Spinal rigi... OMIM:300696
Gne Myopathy
Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger... ORPHA:602
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thro... OMIM:304790
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... OMIM:267450
Short Rib-Polydactyly Syndrome
Short tibia, Polydactyly, Absent or minimally ossified vertebral bodies, Abnormal pelvis bone oss... ORPHA:1505
Familial Atrial Myxoma
Pedal edema, Vascular dilatation, Bacterial endocarditis, Exertional dyspnea, Heart murmur, Pulmo... ORPHA:615
Osteopetrosis, Autosomal Recessive 5
Hepatic failure, Anemia, Limb hypertonia, Short stature, Extramedullary hematopoiesis, Pancytopen... OMIM:259720
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Eczema, Hepatomegaly, Erythroderma, Splenomegaly, Lymphadenitis, V... OMIM:615895
Mitochondrial Complex I Deficiency, Nuclear Type 5
Respiratory insufficiency, Apnea, Failure to thrive, Growth delay, Hepatomegaly, Lethargy OMIM:618226
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myofiber disarray, Increased variability in muscle fiber diameter, Irregular respiration, Cardiac... OMIM:604377
Cranioectodermal Dysplasia 2
Polyhydramnios, Biliary cirrhosis, Elevated hepatic transaminase, Short neck, Hepatomegaly, Spars... OMIM:613610
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Myelodysplasia, Elevated hepatic transaminase, Hepatocellular carcinoma, ... ORPHA:158057
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Rhizomelic arm shortening, Rhizomelic leg shortening, Renal cortical cysts, Renal insufficiency, ... ORPHA:397715
Majeed Syndrome
Flexion contracture, Osteomyelitis, Weight loss, Inflammatory abnormality of the skin, Microscopi... ORPHA:77297
Combined Oxidative Phosphorylation Deficiency 2
Patent ductus arteriosus, Neonatal death, Lethargy OMIM:610498
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... ORPHA:77260
Nemaline Myopathy 7
Knee flexion contracture, Fatty replacement of skeletal muscle, Shoulder girdle muscle weakness, ... OMIM:610687
Necrotizing Enterocolitis
Hypotension, Small for gestational age, Shock, Apnea, Edema, Thrombocytopenia, Abnormal heart mor... ORPHA:391673
Lymphoproliferative Syndrome, X-Linked, 1
Lymphoma, Hepatic failure, Burkitt lymphoma, Neutropenia, Fulminant hepatitis, Recurrent respirat... OMIM:308240
Myasthenic Syndrome, Congenital, 5
Respiratory insufficiency, Hyperlordosis, Decreased muscle mass, Type 1 muscle fiber predominance... OMIM:603034
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... OMIM:614096
Immunodeficiency 54
Respiratory insufficiency, Reduced natural killer cell count, Adrenocorticotropic hormone excess,... OMIM:609981
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Tularemia
Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Skin rash, Inflammatory abnormality of t... ORPHA:3392
Neutral Lipid Storage Disease With Myopathy
Short stature, Elevated hepatic transaminase, Hepatic steatosis, Myopathy, Hepatomegaly, Increase... OMIM:610717
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Foot dorsiflexor weakness, Scoliosis, Kyphosis, Respiratory insufficiency due to muscle weakness OMIM:617087
Galactosemia
Cirrhosis, Hepatic failure, Jaundice, Abnormal erythrocyte enzyme level, Elevated hepatic transam... ORPHA:352
Proteasome-Associated Autoinflammatory Syndrome 5
Skin rash, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly OMIM:619175
Methylmalonic Acidemia With Homocystinuria
Skin rash, Lethargy, Failure to thrive ORPHA:26
Common Variable Immunodeficiency
Lymphoma, Splenomegaly, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Recurrent res... ORPHA:1572
Gm1-Gangliosidosis, Type I
Splenomegaly, Hydrops fetalis, Kyphosis, Decreased beta-galactosidase activity, Abnormal heart va... OMIM:230500
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp... ORPHA:353
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Short stature, Asthma, Eczema, Recurrent sinopulmonary infections, Failu... OMIM:607271
Roifman Syndrome
Biconvex vertebral bodies, Hip contracture, Short stature, Noncompaction cardiomyopathy, Prominen... ORPHA:353298
Distal Nebulin Myopathy
Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Exertional dyspne... ORPHA:399103
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy OMIM:609016
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ... OMIM:609200
Complement Component 4B Deficiency
Chronic active hepatitis, Asthma, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia OMIM:614379
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Growth delay OMIM:278780
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Kyphosis, Keloids, Decreased testicular size, Short stature, Polycystic ovaries, H... ORPHA:3085
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Aminoaciduria, Ventricular septal defect, Renal tubular acidosis, Glycosuria, Jaundice, Elevated ... OMIM:613404
Classic Hodgkin Lymphoma
Lymphoma, Respiratory insufficiency, Weight loss, Skin rash, Lymphadenopathy, Neoplasm, Bone marr... ORPHA:391
Marburg Hemorrhagic Fever
Hypotension, Elevated hepatic transaminase, Reticulocytosis, Shock, Pericarditis, Capillary leak,... ORPHA:99826
Hemochromatosis, Type 2B
Cirrhosis, Hepatic fibrosis, Anemia, Elevated hepatic transaminase, Congestive heart failure, Hep... OMIM:613313
Hemochromatosis Type 2
Abnormality of endocrine pancreas physiology, Elevated hepatic transaminase, Dilated cardiomyopat... ORPHA:79230
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Recurrent respiratory infections, Splenomegaly, Hepatomegaly ORPHA:139406
Systemic-Onset Juvenile Idiopathic Arthritis
Juvenile rheumatoid arthritis, Skin rash, Pericarditis, Pleural effusion, Lymphadenopathy, Joint ... ORPHA:85414
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Recurrent sinusitis, Pneumonia, Lumbar hyperlordosis, Irregular vertebral endp... OMIM:607944
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing OMIM:246570
Evans Syndrome
Petechiae, Neutropenia in presence of anti-neutropil antibodies, Jaundice, Syncope, Bruising susc... ORPHA:1959
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Chronic Pneumonitis Of Infancy
Intercostal retractions, Hypoxemia, Respiratory distress, Reduced forced vital capacity, Failure ... ORPHA:91359
Metaphyseal Dysplasia, Braun-Tinschert Type
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... ORPHA:85188
Eisenmenger Syndrome
Atrioventricular canal defect, Pedal edema, Brain abscess, Aortopulmonary window, Ventricular arr... ORPHA:97214
Dihydropyrimidine Dehydrogenase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Failure to thrive, Growth delay, Uraciluria, Lethargy OMIM:274270
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Hyperlordosis, Flexion contracture, Respiratory failure, Hypoventilatio... OMIM:310200
Fucosidosis
Anterior beaking of lumbar vertebrae, Flexion contracture, Hernia, Recurrent respiratory infectio... OMIM:230000
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antib... ORPHA:228426
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Vertebral segmentation defect, Abnormal sacrum morphology, Spina bifida occulta, S... ORPHA:1797
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... OMIM:612447
Peroxisome Biogenesis Disorder 5A (Zellweger)
Camptodactyly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Hepatomegaly, Renal cortical ... OMIM:614866
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatic steatosis, Bleeding with minor or no trauma, Hepatomegaly,... OMIM:619525
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Short stature, Recurrent pneumonia, Restrictive ventilatory defect, Scoliosis, Platys... OMIM:602271
Citrullinemia Type Ii
Hypercholesterolemia, Hepatic fibrosis, Hypertriglyceridemia, Cerebral edema, Delirium, Fluctuati... ORPHA:247585
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Cirrhosis, Scleros... OMIM:619662
Immunodeficiency 91 And Hyperinflammation
Hemolytic-uremic syndrome, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, H... OMIM:619644
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Genu valgum, Metaphyseal irregularity, Thin bony cortex, Generalized bone demineraliz... OMIM:600785
Aortic Arch Interruption
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu... ORPHA:2299
Mucopolysaccharidosis, Type Iiib
Ovoid thoracolumbar vertebrae, Synophrys, Asymmetric septal hypertrophy, Hirsutism, Recurrent upp... OMIM:252920
Diastrophic Dysplasia
Hip contracture, Small for gestational age, Cervical kyphosis, Glabellar hemangioma, Kyphoscolios...