Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
abnormal bone structure Chd2tm1b(EUCOMM)Hmgu HOM Early adult 4.86×10-06
short tibia Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.93×10-11
decreased hemoglobin content Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.56×10-05
increased grip strength Chd2tm1b(EUCOMM)Hmgu HOM Early adult 5.14×10-12
decreased bone mineral content Chd2tm1b(EUCOMM)Hmgu HOM Early adult 3.58×10-06
increased circulating alanine transaminase level Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.49×10-06
decreased prepulse inhibition Chd2tm1b(EUCOMM)Hmgu HOM Early adult 6.86×10-05
abnormal sinus arrhythmia Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.07×10-08
decreased erythrocyte cell number Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.50×10-05
increased circulating aspartate transaminase level Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.19×10-08
decreased mean platelet volume Chd2tm1b(EUCOMM)Hmgu HOM   Early adult 7.47×10-06
decreased bone mineral density Chd2tm1b(EUCOMM)Hmgu HOM Early adult 5.94×10-05
decreased body length Chd2tm1b(EUCOMM)Hmgu HOM Early adult 4.17×10-06

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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 Skull Dorso Ventral Orientation

10 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Electrocardiogram (ECG)

Waveform Image

1 Images

Eye Morphology

Images Ophthalmoscopy

2 Images

Histopathology

Images

2 Images

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
Lennox-Gastaut Syndrome
Apathy ORPHA:2382
Developmental And Epileptic Encephalopathy 94
OMIM:615369

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
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Dyspnea, Hepatitis, ... ORPHA:139402
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Q Fever
Hepatosplenomegaly, Hematuria, Weight loss, Hepatomegaly, Purpura, Endocarditis, Vasculitis, Gran... ORPHA:781
Mixed Connective Tissue Disease
Nephropathy, Xerostomia, Hepatomegaly, Purpura, Gastrointestinal hemorrhage, Alopecia, Myositis, ... ORPHA:809
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Hypotension, Abnormal lung morphology, Hepatitis, Lympho... ORPHA:549
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congeni... ORPHA:731
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... OMIM:618495
Systemic Capillary Leak Syndrome
Hypotension, Oliguria, Pleural effusion, Leukocytosis, Renal insufficiency, Pulmonary edema, Arrh... ORPHA:188
Congenital Enterovirus Infection
Cholestasis, Neutropenia, Pleural effusion, Anemia, Hydrops fetalis, Hypotension, Hepatic failure... ORPHA:292
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Recurrent otitis media, Dilatation of the ventricular cavity, Hepa... OMIM:619991
Scrub Typhus
Hypotension, Dyspnea, Abnormal bleeding, Renal insufficiency, Skin rash, Splenomegaly, Infectious... ORPHA:83317
American Trypanosomiasis
Periorbital edema, Dyspnea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, In... ORPHA:3386
Whipple Disease
Hypotension, Gastrointestinal hemorrhage, Uveitis, Mediastinal lymphadenopathy, Depression, Splen... ORPHA:3452
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Abnormal ... ORPHA:449395
Listeriosis
Arteritis, Abscess, Rhabdomyolysis, Pustule, Jaundice, Endocarditis, Acute kidney injury, Osteomy... ORPHA:533
Propionic Acidemia
Hyperglycinuria, Eczematoid dermatitis, Cardiomyopathy, Increased level of hippuric acid in urine... OMIM:606054
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe... ORPHA:289390
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Respiratory tract infection, Autoim... ORPHA:444463
Bacterial Toxic-Shock Syndrome
Cellulitis, Abscess, Tachypnea, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock... ORPHA:36234
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Dyskeratosis Congenita, Autosomal Dominant 1
Sparse hair, Bone marrow hypocellularity, Alopecia, Dyspnea, Aplastic anemia, Increased mean corp... OMIM:127550
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Petechiae, ... OMIM:620296
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Sup... ORPHA:83617
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pleura morphology, Hematuria, Weight loss, Tubulointerstitial nephritis, Purpura, Endoca... ORPHA:183
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Exocrine pancreatic insuffic... OMIM:615952
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Weight loss, Hyper... ORPHA:133
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Decreased methionine synthase activity... OMIM:614857
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Cardiomyopathy, Respiratory distress, Renal insufficiency, Splenomegaly, Strok... ORPHA:79312
Lujo Hemorrhagic Fever
Lymphopenia, Excessive bleeding after a venipuncture, Periorbital edema, Cerebral edema, Purpura,... ORPHA:319213
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Extramedullary hema... ORPHA:824
Shigellosis
Microangiopathic hemolytic anemia, Cholestasis, Urethritis, Abscess, Rhabdomyolysis, Purpura, Acu... ORPHA:810
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopen... OMIM:615285
Sting-Associated Vasculopathy, Infantile-Onset
Sparse hair, Skeletal muscle atrophy, Pustular rash, Failure to thrive, Lymphopenia, Leukopenia, ... OMIM:615934
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Vasculitis, Alop... ORPHA:50918
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Anophthalmia, Ventricular septal defect, Neonatal death, Microphthalmia OMIM:615524
Syndactyly Type 4
Toe syndactyly, Limitation of joint mobility, Short tibia, Camptodactyly of finger, Hand polydact... ORPHA:93405
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Ventricular se... ORPHA:26793
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Neoplasm, Interstitial pneumonitis, Pl... ORPHA:723
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Cardiomyopathy, Respiratory distress, Increased level of methylsuccinic acid i... ORPHA:26792
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Ischemic stroke, Pleural... ORPHA:679
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Abnormal cardiac atrium ... ORPHA:1329
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hypertrophic cardiomy... OMIM:613561
Multifocal Atrial Tachycardia
Hypotension, Dyspnea, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ven... ORPHA:3282
Wilson Disease
Proximal muscle weakness in lower limbs, Elevated circulating hepatic transaminase concentration,... ORPHA:905
Zygomycosis
Cellulitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Periorbital... ORPHA:73263
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Palpi... ORPHA:206569
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, High anterior hairline, Acne inversa, He... OMIM:233600
Congenital Syphilis
Pneumonia, Keratitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Intrauterine growth retar... ORPHA:499009
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Chronic Visceral Acid Sphingomyelinase Deficiency
Cherry red spot of the macula, Hypersplenism, Cirrhosis, Hepatomegaly, Autoimmune thrombocytopeni... ORPHA:77293
Sandhoff Disease
Failure to thrive, Congestive heart failure, Cherry red spot of the macula, Splenomegaly, Hepatom... ORPHA:796
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231226
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Avian Influenza
Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Acute kidney injury... ORPHA:454836
Acute Interstitial Pneumonia
Dyspnea, Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, ... ORPHA:79126
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, He... ORPHA:99827
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Tachy... ORPHA:2041
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal pleura morphology, Abnormal mitral valve mor... ORPHA:3099
Carcinoid Syndrome
Elevated circulating hepatic transaminase concentration, Right ventricular failure, Tricuspid reg... ORPHA:100093
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Respiratory distress, Leukopenia, Pleural effusion, Leukocytosis, ... ORPHA:36238
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Elevated circulating alkaline phosphatase concentration, Orth... ORPHA:330001
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Small for gestational age, Second degree atrioventricular block, Increased mean corpuscular volum... OMIM:617021
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microc... ORPHA:846
Familial Isolated Restrictive Cardiomyopathy
Dyspnea, Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, ... ORPHA:75249
X-Linked Agammaglobulinemia
Cellulitis, Weight loss, Neutropenia, Recurrent cutaneous abscess formation, Chronic otitis media... ORPHA:47
Rat-Bite Fever
Septic arthritis, Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin ra... ORPHA:31205
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Failure to thrive, Cardiomyopathy, Congestive heart failure, Hypertrophic ... OMIM:212140
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... OMIM:602390
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Thrombocytopenia OMIM:273900
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepat... OMIM:612840
3-Hydroxy-3-Methylglutaric Aciduria
Lipid accumulation in hepatocytes, Tachypnea, Weight loss, Apathy, Hepatomegaly, Jaundice, 3-Meth... ORPHA:20
Felty Syndrome
Cellulitis, Synovitis, Weight loss, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic oti... ORPHA:47612
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Lymphocytosis, Thrombocytopenia, Vascul... OMIM:617718
Rigid Spine Syndrome
Pneumonia, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring contractures, Cardiac co... ORPHA:97244
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Tachypnea, Arthritis, Dyspnea, ... OMIM:616414
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Fa... OMIM:613812
Antisynthetase Syndrome
Aortic regurgitation, Xerostomia, Neoplasm, Skin rash, Myositis, Pulmonary arterial hypertension,... ORPHA:81
Kawasaki Disease
Arrhythmia, Recurrent pharyngitis, Jaundice, Vasculitis, Sterile pyuria, Arthritis, Cheilitis, As... ORPHA:2331
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Abnor... ORPHA:494424
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi... OMIM:313900
Systemic Sclerosis
Chronic kidney disease, Intestinal bleeding, Telangiectasia, Glomerulonephritis, Albuminuria, Rec... ORPHA:90291
Myosclerosis, Autosomal Recessive
Lumbar hyperlordosis, Neck joint contracture, Thoracolumbar scoliosis, Achilles tendon contractur... OMIM:255600
Microphthalmia/Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell adenoma, Polycythemia, Pa... ORPHA:892
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short toe, Micromelia, Short tibia, Aplasia of the middle phalanges o... ORPHA:2098
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Dysplastic sacrum, Postnatal growth retardation, Cardiomegaly, Short neck, Pulmonary arterial hyp... OMIM:613320
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231214
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:620484
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Dermatomyositis
Cellulitis, Abnormal eosinophil morphology, Lung adenocarcinoma, Arrhythmia, Weight loss, Periorb... ORPHA:221
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Microphthalmia/Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating hepatic... ORPHA:71212
Relapsing Polychondritis
Scleritis, Hematuria, Inflammatory abnormality of the eye, Purpura, Alopecia, Abnormal pattern of... ORPHA:728
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Lumbar hyperlordosis, Knee flexion contracture, Hip contracture, Short stature, Scoliosis, Arthro... OMIM:602484
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Abnormal tibia morphology, Genu valgum, Patellar aplasia, Diaphyseal ... ORPHA:240
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Organic aciduria, Respiratory distress, Keratoc... ORPHA:79242
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Abnormality of the hepatic vasculature,... ORPHA:275555
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Dyspnea, Abnormal pulmonary interstitial morphology, Atelectasis, Hilar lymph node enlargement, T... OMIM:620233
Multiple Acyl-Coa Dehydrogenase Deficiency
Rhabdomyolysis, Arrhythmia, Hepatomegaly, Polycystic kidney dysplasia, 3-Methylglutaric aciduria,... ORPHA:26791
Pleural Mesothelioma
Dyspnea, Respiratory distress, Obstruction of the superior vena cava, Abnormal pleura morphology,... ORPHA:50251
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Recurrent upper respiratory tract infections, Failure to thrive, Respiratory distr... OMIM:263000
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Pauci-Immune Glomerulonephritis
Acute kidney injury, Arteritis, Dyspnea, Pulmonary hemorrhage, Decreased glomerular filtration ra... ORPHA:93126
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Arterial Tortuosity Syndrome
Aortic root aneurysm, Esophagitis, Hypertrophic cardiomyopathy, Inguinal hernia, Vascular dilatat... ORPHA:3342
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Fibu... ORPHA:1972
Acromesomelic Dysplasia, Maroteaux Type
Disproportionate short stature, Vertebral wedging, Abnormal form of the vertebral bodies, Beaking... ORPHA:40
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Respiratory distress, Reduced left ventricula... ORPHA:45452
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, Tachypnea, Lethargy, H... OMIM:614299
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Abnormality of the vertebral column, Osteomyelitis, Pleural effu... ORPHA:1163
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abn... ORPHA:1802
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Slender build, Limb ... OMIM:161800
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Angioedema, Hepatosplenomegaly, Thrombocytosis, Erythroderm... ORPHA:3260
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Short neck, Disproportionate short-t... ORPHA:1830
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Severe short stature, Failure to thrive, Respiratory distress, Decreased response to growth hormo... OMIM:245590
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Arterial stenosis, Cerebral artery atherosclerosis, Abnormal mitral valve morphology... ORPHA:1192
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... ORPHA:465508
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Kyphosis, Hyperlordosis, Short stature, Scoliosis, Increased adipose tissue, Spinal rigidity OMIM:617404
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Failure to thrive, Atelectasis, Hepatocellular necrosis, Hepatosplenomeg... OMIM:618278
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Pulmonary Blastoma
Dyspnea, Recurrent pneumonia, Weight loss, Pleuropulmonary blastoma ORPHA:64741
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C... OMIM:301068
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Gm1 Gangliosidosis
Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly, Ventricular septal defec... ORPHA:354
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Acute Radiation Syndrome
Hypotension, Inflammatory abnormality of the skin, Abnormal bleeding, Lymphopenia, Interstitial p... ORPHA:454831
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatic necrosis, Hep... OMIM:231530
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Congestive ... ORPHA:139507
Cirrhotic Cardiomyopathy
Pulmonary edema, Arrhythmia, Elevated jugular venous pressure, Cirrhosis, Hepatomegaly, Right atr... ORPHA:57777
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Splenomegaly,... ORPHA:99745
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Tachypnea, Abnormally loud pulmonic component of the second heart sound, Ri... ORPHA:99106
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatitis, Failure to thrive in infancy, Hypersplenism, Increased vertebral height, Portal hypert... OMIM:613385
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Elevated urinar... ORPHA:42
Double Outlet Right Ventricle
Hypoplastic left heart, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus, Failure to th... ORPHA:3426
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Hepatic failure, Portal fibr... OMIM:617394
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Shock, Respiratory distress, Tachypnea, Dyspnea, Abnormal... ORPHA:178320
Lipodystrophy, Congenital Generalized, Type 4
Increased variability in muscle fiber diameter, Hepatic steatosis, Hepatomegaly, Tachycardia, Spi... OMIM:613327
Cardiocranial Syndrome, Pfeiffer Type
Hypospadias, Abnormal hair whorl, Small hypothenar eminence, Growth delay, Contracture of the pro... ORPHA:2872
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infec... OMIM:614878
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Her... ORPHA:93476
Beta-Thalassemia
Cholelithiasis, Hepatitis, Hypertrophic cardiomyopathy, Microcytic anemia, Splenomegaly, Abnormal... ORPHA:848
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Failure to thrive in infancy, Long eyela... OMIM:619064
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Elevated ci... OMIM:614921
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Abnormal fingertip morpholo... ORPHA:79106
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Ventricular septal d... OMIM:208085
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Hepatitis Delta
Hepatic failure, Abnormal bleeding, Hepatitis, Bruising susceptibility, Elevated circulating aspa... ORPHA:402823
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Failure to thrive, Fair hair, Congestive heart failure, Ascites, Splenomegaly... OMIM:269920
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis, Hepatic failure, Odontoma, Atherosclerosis ORPHA:2724
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Abnormal heart valve morphology, Inguinal hernia, Abnormal... ORPHA:577
Griscelli Syndrome
Silver-gray hair, Bone marrow hypocellularity, Hepatitis, White hair, Premature graying of hair, ... ORPHA:381
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Elevated circulating hepatic transaminase concent... ORPHA:2137
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os... OMIM:600561
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Renal insufficiency, Macrocytic anemia, Anemia, Lethargy, Pancreatiti... ORPHA:27
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Abnormal bleeding, Hepatocellular necrosis, Cholestasis, Intra... OMIM:231100
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Elevated gamma-glutamyltransferase level, Abscess, Ovarian cy... ORPHA:400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Cardiomyopathy, Failure to thrive, Respiratory distress, Leukopenia, Stag... OMIM:251000
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Pulmonary Alveolar Microlithiasis
Hematuria, Tachypnea, Weight loss, Hepatomegaly, Right ventricular failure, Subpleural interstiti... ORPHA:60025
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope... OMIM:301000
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Autosomal Agammaglobulinemia
Cellulitis, Bronchiectasis, Verrucae, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Art... ORPHA:33110
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumulation, Hepatit... OMIM:620565
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... ORPHA:169160
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase conce... OMIM:619386
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Polycystic ovaries, Pulmonary edema, Ventricular septal defect, T... ORPHA:137675
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Brachyolmia Type 1, Toledo Type
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Childhood-... OMIM:271630
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Postnatal growth retardation, Ventricular septal defect, Tachypne... ORPHA:79345
Juvenile Neuronal Ceroid Lipofuscinosis
Depression, Aspiration pneumonia, Abnormal heart morphology, Episodic tachypnea, Apnea, Abnormal ... ORPHA:79264
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Weight loss, Nephrotic syndrome, Purpura, Multiple myeloma, Vasculiti... ORPHA:91139
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Slender build, Limb muscle weakness, Calf muscle ... OMIM:256030
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Bruising susceptibility, Re... ORPHA:3226
Hypothyroidism, Congenital, Nongoitrous, 7
Short stature, Lethargy, Growth delay OMIM:618573
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Failure to thrive, Abnormal ... ORPHA:2257
Biotinidase Deficiency
Alopecia, Organic aciduria, Apnea, Skin rash, Splenomegaly, Tachypnea, Seborrheic dermatitis, Let... OMIM:253260
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Elevated circulating hepatic transaminase concentration, Acute kidney injury, Reduce... ORPHA:542323
High Altitude Pulmonary Edema
Leukocytosis, Pulmonary edema, Tachypnea, Orthopnea, Dyspnea, Tachycardia ORPHA:330012
Beta-Ketothiolase Deficiency
Hypotension, Ketonuria, Dehydration, Leukocytosis, Tachypnea, Weight loss, Apathy, Thrombocytosis... ORPHA:134
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Isolated Glycerol Kinase Deficiency
Short stature, Scoliosis, Hyperlordosis, Cryptorchidism ORPHA:408
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Weight loss, Hepatomegaly, Recurrent lower respirato... OMIM:615846
Infection-Related Hemolytic Uremic Syndrome
Pleural empyema, Acute kidney injury, Anuria, Nephrotic range proteinuria, Hemolytic anemia, Pneu... ORPHA:544482
Pyruvate Dehydrogenase E3 Deficiency
Increased urine alpha-ketoglutarate concentration, Hepatic failure, Elevated circulating hepatic ... ORPHA:2394
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Elevated circulating ... ORPHA:39812
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c... OMIM:246900
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98855
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Pancytopenia, Hepatic steatosis, Tachypnea, Cirrhosis, Bile duct prol... OMIM:613658
Scorpion Envenomation
Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Arrhythmia, Tachypnea, Tachyc... ORPHA:466677
Mogs-Cdg
Generalized edema, Alopecia, Fair hair, Respiratory distress, Hepatosplenomegaly, Apnea, Polyhydr... ORPHA:79330
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Intrauterine growth retardation, Splenomegaly, Nonimmune hydrops fetalis, Joint c... OMIM:608540
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tri... ORPHA:555874
Mercury Poisoning
Hypotension, Acute kidney injury, Respiratory distress, Interstitial pneumonitis, Dyspnea, Tachyc... ORPHA:330021
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Medial calcification of large arteries, Lymphopenia, Hepato... ORPHA:391487
Aicardi-Goutieres Syndrome 9
Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight loss, Glomerular sclerosis, Micropenis,... OMIM:619487
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Colchicine Poisoning
Hypotension, Cardiogenic shock, Oliguria, Alopecia, Congestive heart failure, Respiratory distres... ORPHA:31824
Dna2-Related Mitochondrial Dna Deletion Syndrome
Depression, Slender build, Multiple joint contractures, Myopathy, Exertional dyspnea, Limb-girdle... ORPHA:352470
Trimethylaminuria
Recurrent pneumonia, Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardi... OMIM:602079
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Paroxysmal atrial tachycardia, Lethargy, Megaloblastic anemia, Thromboc... ORPHA:49827
Niemann-Pick Disease, Type B
Dyspnea, Sea-blue histiocytosis, Foam cells with lamellar inclusion bodies, Splenomegaly, Anemia,... OMIM:607616
Lethal Infantile Mitochondrial Myopathy
Lethargy, Renal insufficiency, Cardiomyopathy, Fatal liver failure in infancy ORPHA:254857
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Intervertebral space narrowing, Dispropor... OMIM:609223
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Abnormal pattern of respiration, Hypertrophic cardiomyopathy, Ab... ORPHA:3287
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Tachypnea, Singl... ORPHA:3384
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Alopecia, Sparse eyebrow, Cholestasis, Portal hypertension, Sp... OMIM:607626
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Bra... ORPHA:70587
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Respiratory distress, Weight loss, Dyspnea, Hamartoma ORPHA:141152
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Short neck, Disproportionate short-trunk short stature, Neutropenia, N... OMIM:242900
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Methylcobalamin Deficiency Type Cble
Increased mean corpuscular volume, Failure to thrive, Postnatal growth retardation, Abnormality o... ORPHA:2169
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg... ORPHA:91138
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Respiratory distress, Failure to thrive in infancy, Foam cells, Tachypnea, ... ORPHA:264675
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction, Anemia, Lethargy, Pancreati... ORPHA:289916
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Eczematoid dermatitis, Prominent eyelashes, Recur... OMIM:616651
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent otitis media, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decrease... OMIM:300853
Congenital Toxoplasmosis
Elevated circulating hepatic transaminase concentration, Ascites, Failure to thrive in infancy, I... ORPHA:858
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276556
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Arthrogryposis multiplex congenita, Elbow flexion contracture, Nonprogressive ... OMIM:600175
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Biliary cirrhosis, Cholestasis, Hepatospleno... OMIM:267010
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Ur... OMIM:256550
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276575
Isolated Biliary Atresia
Elevated gamma-glutamyltransferase level, Cholestasis, Hypopituitarism, Xanthelasma, Elevated cir... ORPHA:30391
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Arteriovenous malformation, Umbilical he... ORPHA:584
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Cachexia, Hyperlordosis,... ORPHA:157973
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Fucosidosis
Cherry red spot of the macula, Hernia, Beaking of vertebral bodies, Absent/hypoplastic coccyx, He... OMIM:230000
Spinal Muscular Atrophy, Infantile, James Type
Short stature, Lumbar hyperlordosis, Scoliosis, Hip contracture OMIM:619042
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Eczematoid dermatitis, Hepatitis, Failure to thrive, Decreased FOXP3-expressing T cell ... OMIM:304790
Glycogen Storage Disease Due To Acid Maltase Deficiency
Lower limb muscle weakness, Elevated circulating alanine aminotransferase concentration, Orthopne... ORPHA:365
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Failure to thrive, Hep... ORPHA:99931
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Lymphoma, ... OMIM:308240
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... ORPHA:52430
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Alveolar Echinococcosis
Abnormal vertebral morphology, Pulmonary cyst, Abnormal mesentery morphology, Abnormal spleen mor... ORPHA:284
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hepatitis, Decreased liver function, H... ORPHA:158061
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Developmental And Epileptic Encephalopathy 40
Lethargy, Intrauterine growth retardation OMIM:617065
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Osteopenia, Short tibia, Increased circula... ORPHA:356961
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic ... OMIM:602347
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Large for gestational age, Pal... ORPHA:276580
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Pelger-Huet Anomaly
Giant platelets, Short 3rd metacarpal, Upper limb undergrowth, Short 5th metacarpal, Pes cavus, P... OMIM:169400
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardiomyopathy, Apnea, Left ventricular ... OMIM:618228
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Absence of lymph node germinal center, Failure to thrive, Hemolytic anemia, Splenomega... OMIM:308230
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Hypersplenism, Pancytopenia, Elevated circulating alkaline phosphatase concen... ORPHA:98850
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo... OMIM:607685
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Dyspnea, Right ventricular failure, Interlobular septal thickening, ... ORPHA:199241
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Myocardial infarction, Congenital thrombocytop... ORPHA:182050
African Trypanosomiasis
Hepatosplenomegaly, Arrhythmia, Weight loss, Apathy, Urinary incontinence, Hepatomegaly, Jaundice... ORPHA:3385
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:369
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Coarse hair, Heparan sulfate excretion in urine, Sp... OMIM:252920
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Growth delay, Methylmalonic aciduria, Failure to thrive, Abnormal hear... ORPHA:79284
Vitamin B12-Responsive Methylmalonic Acidemia
Failure to thrive, Renal insufficiency, Anemia, Lethargy, Hepatomegaly, Dehydration ORPHA:28
Kaposi Sarcoma
Neoplasm of the skin, Lymphedema, Abnormality of the spleen, Abnormality of the liver, Skin rash,... ORPHA:33276
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Depression, Shoulder girdle muscle weakness, Slender build, Patent foramen ovale, Myopathy, Exert... OMIM:615156
Rhabdoid Tumor
Renal neoplasm, Hematuria, Neoplasm of the liver, Weight loss, Internal hemorrhage, Lymphadenopat... ORPHA:69077
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, T-cell lymphoma, Lymphopenia, Intrauterin... OMIM:243150
Rh Deficiency Syndrome
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Ol... ORPHA:71275
Peripheral Cone Dystrophy
Pallor OMIM:609021
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Elevated circulating hepatic transaminase concentration, Decreased liver function, Episodic tachy... OMIM:615160
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Decreased body weight, Pulmonary edema, Hematuria, Glomerulonephritis, Tu... ORPHA:340
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Gaucher Disease Type 1
Gingival bleeding, Hepatosplenomegaly, Hypersplenism, Pancytopenia, Hematuria, Cirrhosis, Hepatom... ORPHA:77259
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Lymphoma, Recurrent otitis media, Splenomega... ORPHA:397596
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati... ORPHA:480520
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, Failure to thri... OMIM:613179
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Splenomegaly, B-cell lymphoma, Weight loss, Lymphadenopathy, Hepatomegaly, Breast carci... ORPHA:86893
Bone Dysplasia, Lethal Holmgren Type
Rhizomelia, Failure to thrive, Hypertrophic cardiomyopathy, Hernia, Short neck, Anemia, Weight lo... ORPHA:1842
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Splenomegaly, Redu... OMIM:210250
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Cystic pattern on pulmonary HRCT, Respiratory distress, Decreased response to growth... OMIM:610978
Spondyloenchondrodysplasia
Chronic kidney disease, Pancytopenia, Hematuria, Disproportionate short-trunk short stature, Auto... ORPHA:1855
Joubert Syndrome 9
Hepatic fibrosis, Episodic tachypnea, Stage 5 chronic kidney disease, Apnea, Scoliosis OMIM:612285
Cocaine Intoxication
Rhabdomyolysis, Pulmonary edema, Hematuria, Tachypnea, Glomerulonephritis, Tubulointerstitial nep... ORPHA:90068
Isolated Atp Synthase Deficiency
Renal hypoplasia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Respiratory distress, 3-Me... ORPHA:254913
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy... ORPHA:156
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Elevated gamma-glutamyltransferase level, Cholestasis, Acute hepatic failure, Hepatic steatosis, ... OMIM:256810
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Ecze... OMIM:615895
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Skin rash, Splenomegaly, Hypertriglyceridemia, Hepatomegaly OMIM:619175
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Ascites, ... OMIM:617397
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy OMIM:609016
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive hea... OMIM:235200
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac... OMIM:602450
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Leigh Syndrome, Nuclear
Hypertrichosis, Failure to thrive, Abnormal pattern of respiration, Hepatocellular necrosis OMIM:256000
Cranioectodermal Dysplasia 2
Cholestasis, Sparse eyelashes, Short neck, Atrial septal defect, Hepatomegaly, Sparse hair, Paten... OMIM:613610
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Patent ductus arteriosus, Neonatal death OMIM:610498
Mucopolysaccharidosis, Type Iva
Platyspondyly, Recurrent upper respiratory tract infections, Hypoplasia of the odontoid process, ... OMIM:253000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Fai... OMIM:265120
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Increased circul... OMIM:600649
Melioidosis
Pneumonia, Cellulitis, Brain abscess, Hepatitis, Foot osteomyelitis, Cutaneous abscess, Shock, Ab... ORPHA:31202
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, B-cell lymphoma, Lymphad... OMIM:619164
Al Amyloidosis
Xerostomia, Postural hypotension with compensatory tachycardia, Abnormal cardiac atrium morpholog... ORPHA:85443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Cryptorchidism, Left ventricular hyper... OMIM:613156
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Muscula... OMIM:253700
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Hip contracture, Spinal musc... OMIM:615290
Follicular Lymphoma
Lymphoma, Lymphedema, Pleural effusion, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal peri... ORPHA:545
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Dyspnea, Failure to thrive, Splenomegaly, Hyperphosphaturia, Anemia, Tachypnea, Hy... OMIM:239200
Joubert Syndrome 7
Nephronophthisis, Episodic tachypnea, Stage 5 chronic kidney disease, Renal cyst, Tachypnea, Cent... OMIM:611560
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Lumbar hyperlordosis, Limb-girdle muscle weakness, Calf muscl... OMIM:609308
Methylmalonic Acidemia With Homocystinuria
Lethargy, Skin rash, Failure to thrive ORPHA:26
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Citrullinemia Type I
Hepatic failure, Failure to thrive, Lethargy, Tachypnea, Torticollis ORPHA:247525
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Recurrent otitis media, Microcytic anemia, Hepatic stea... OMIM:619525
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congenital hepat... ORPHA:79230
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Methylmalonic aciduria, Failure to thrive, Respiratory distress, Decreased methio... OMIM:250940
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Orthopne... ORPHA:980
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Growth delay OMIM:278780
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Gm1-Gangliosidosis, Type I
Severe short stature, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat... OMIM:230500
Gaucher Disease
Aortic valve calcification, Gingival bleeding, Cherry red spot of the macula, Pancytopenia, Hemat... ORPHA:355
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary valve cusp morphology, Hypotension, Cardiogenic shock, Right ventri... ORPHA:97287
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Decreased testicular size, Cryptorchidism, Polycystic ovaries, Hyperlordosis, Short stat... ORPHA:3085
Microphthalmia, Syndromic 16
Anophthalmia, Microphthalmia OMIM:611038
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Failure to thriv... OMIM:609015
Dihydropyrimidine Dehydrogenase Deficiency
Reduced dihydropyrimidine dehydrogenase level, Failure to thrive, Elevated urinary dihydrothymine... OMIM:274270
Biliary, Renal, Neurologic, And Skeletal Syndrome
Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect, Cholestasis, ... OMIM:619534
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Failure to thrive, Camptodactyly of finger, Intr... OMIM:604320
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Recurrent pharyng... ORPHA:42642
Roifman Syndrome
Recurrent pneumonia, Biconvex vertebral bodies, Eczematoid dermatitis, Prominent eyelashes, Recur... ORPHA:353298
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... OMIM:620203
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Cholestasi... OMIM:619662
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa... OMIM:613404
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio... OMIM:607765
Mucopolysaccharidosis, Type Vi
Reduced leukocyte arylsulfatase B activity, Hypoplasia of the odontoid process, Mitral regurgitat... OMIM:253200
Autosomal Dominant Spondylocostal Dysostosis
Severe short stature, Abnormal morphology of female internal genitalia, Intrauterine growth retar... ORPHA:1797
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosp... OMIM:259710
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomegaly, Ventricular septal defect, C... OMIM:620210
Sialidosis Type 2
Nephropathy, Dyspnea, Skeletal muscle atrophy, Umbilical hernia, Ascites, Splenomegaly, Inguinal ... ORPHA:87876
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Diastasis recti, Portal hypertension, Inguinal... ORPHA:440713
Evans Syndrome
Epistaxis, Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syncope, Ne... ORPHA:1959
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Cerebral ischemia, Stroke, Lethargy, Hepatomegaly, Myelo... ORPHA:927
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elevated circulating hepatic transaminase concentration, Failure to thrive, Cervical spinal canal... ORPHA:397715
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumbar hyperlordosis, Hy... OMIM:615980
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Weight loss, L... ORPHA:100024
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Thoracolumbar kyphoscoliosis, Intrauterine growth retardat... OMIM:617396
Peroxisome Biogenesis Disorder 5A (Zellweger)
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Mitral regurgitation, ... OMIM:614866
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Anemia, Lethargy, Tachypnea, Failure to thrive OMIM:615838
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Hypospadias, Dilated cardiomyopathy, Failure to thrive, Congestive hea... OMIM:610198
Pyruvate Dehydrogenase Deficiency
Intrauterine growth retardation, Lethargy, Multiple lipomas, Tachypnea, Dyspnea, Growth delay ORPHA:765
Classic Glucose Transporter Type 1 Deficiency Syndrome
Lethargy, Abnormal erythrocyte morphology ORPHA:71277
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Acute hepatic failure, Pulmonary hemorrhage, Hepatosplenomegaly, Neutrophilia, ... OMIM:619644
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Failure to thrive, Hepatosplenomegaly, Distal renal tubular acidosis, Reticuloc... OMIM:611590
Gaucher Disease Type 2
Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Cardiac arrest... ORPHA:77260
Dengue Fever
Gingival bleeding, Epistaxis, Hypotension, Gastrointestinal hemorrhage, Bruising susceptibility, ... ORPHA:99828
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Lipid accumulation in hepatocytes, Arrhythmia, Elevated circulating alanine aminotransferase conc... OMIM:608836
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Splenomegaly, Skin rash, Joint swelling, Lymphadenopathy, Arthritis, Hepatomega... ORPHA:85414
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 11
Renal hypoplasia, Decreased liver function, Cardiomyopathy, Polyhydramnios, Hepatic steatosis, My... OMIM:614922
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Hepatosplen... OMIM:232500
Babesiosis
Hepatic failure, Depression, Congestive heart failure, Leukopenia, Renal insufficiency, Splenomeg... ORPHA:108
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Ogden Syndrome
Torsade de pointes, Recurrent otitis media, Postnatal growth retardation, Cryptorchidism, Ventric... OMIM:300855
Giant Cell Arteritis
Vasculitis, Epistaxis, Hepatic failure, Mediastinal lymphadenopathy, Aortic dissection, Double ou... ORPHA:397
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Palpitations, Lethargy, Syncope, Hepatomegaly, Tachycardia, Small for ... ORPHA:324575
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl... ORPHA:79301
Mitochondrial Complex I Deficiency, Nuclear Type 3
Hepatomegaly, Lethargy OMIM:618224
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Hellp Syndrome
Generalized edema, Hypotension, Elevated circulating hepatic transaminase concentration, Acute ki... ORPHA:244242
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cryptorchidism, Ca... OMIM:620135
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Failure to thrive, Decreased methylmal... OMIM:251110
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Recurrent otitis media, Postnatal growth retardation, Urinary... OMIM:253220
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkins... OMIM:618234
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Abnormal hemoglobin, Splenomegaly, Ane... ORPHA:163596
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Abnormal bleeding, Pancytopenia, Leukope... ORPHA:507
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Bilateral crypt... OMIM:619542
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Slend... ORPHA:399103
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Small for gestational age, Methylmalonic aciduria, Cystathioninuria, Failure to t... OMIM:277380
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hand muscle weakness, Shoulder girdle muscle weakness, Distal lower limb amyotrophy, Abnormality ... ORPHA:363454
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Noctur... OMIM:607155
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Dyspnea, Eczematoid dermatitis, Failure to thrive, Abnormality of connectiv... ORPHA:79128
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val... OMIM:600785
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Respiratory distress... OMIM:604377
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea, Edema OMIM:267450
Isovaleric Acidemia
Bone marrow hypocellularity, Hyperglycinuria, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Le... OMIM:243500
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Increased intervertebral space, Tubulo... OMIM:607944
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Ankle flexion contracture, Limb-girdle muscular dystrophy, Reduced muscle fiber alpha dystroglyca... ORPHA:280333
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy