Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased hemoglobin content Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.64×10-05
decreased mean platelet volume Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.05×10-05
decreased bone mineral density Chd2tm1b(EUCOMM)Hmgu HOM Early adult 5.91×10-05
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
increased circulating aspartate transaminase level Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.50×10-08
increased grip strength Chd2tm1b(EUCOMM)Hmgu HOM Early adult 6.88×10-10
decreased body length Chd2tm1b(EUCOMM)Hmgu HOM Early adult 4.19×10-06
increased mean corpuscular volume Chd2tm1b(EUCOMM)Hmgu HOM Early adult 3.04×10-05
decreased erythrocyte cell number Chd2tm1b(EUCOMM)Hmgu HOM Early adult 1.18×10-05
abnormal sinus arrhythmia Chd2tm1b(EUCOMM)Hmgu HOM Early adult 2.07×10-08
increased circulating alanine transaminase level Chd2tm1b(EUCOMM)Hmgu HOM Early adult 3.39×10-06
decreased bone mineral content Chd2tm1b(EUCOMM)Hmgu HOM Early adult 3.58×10-06

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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.


XRay Images Skull Lateral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Gross Pathology and Tissue Collection


8 Images


XRay Images Whole Body Dorso Ventral

10 Images


XRay Images Skull Dorso Ventral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

2 Images



2 Images

Electrocardiogram (ECG)

Waveform Image

1 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
Matching phenotypes Source
Myoclonic-Astatic Epilepsy
Microphthalmia, Premature skin wrinkling ORPHA:1942
Developmental And Epileptic Encephalopathy 94
Lennox-Gastaut Syndrome

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

Disease Similarity of
Matching phenotypes Source
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Drug Reaction With Eosinophilia And Systemic Symptoms
Cardiac arrest, Hepatitis, Lymphocytosis, Skin rash, Infectious encephalitis, Interstitial pneumo... ORPHA:139402
Legionnaires Disease
Cellulitis, Proteinuria, Hepatitis, Pancreatitis, Lymphopenia, Arrhythmia, Infectious encephaliti... ORPHA:549
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Decreased mean corpuscular volume, Anemia, Increased circulating ferritin concentration, Hypochromia OMIM:205950
Q Fever
Abnormal vascular morphology, Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnor... ORPHA:781
Abnormal aortic valve morphology, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver ab... ORPHA:1304
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenome... ORPHA:829
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Ane... ORPHA:563
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Abnormal pulmonary interstitial morphology, Skin rash, Leukopenia, M... ORPHA:809
Systemic Capillary Leak Syndrome
Oliguria, Leukocytosis, Multiple myeloma, Arrhythmia, Weight loss, Hypotension, Myocarditis, Coug... ORPHA:188
Scrub Typhus
Restrictive ventilatory defect, Infectious encephalitis, Reduced consciousness/confusion, Splenom... ORPHA:83317
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Gastrointestinal hemorrhage, Cholestasis, Cholangitis, Elevated gamma-glutamyltra... ORPHA:731
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Infectious encephalitis, Splenomegaly, Myocarditis, Hepatom... ORPHA:3386
Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Acute kidney injury, Congestive heart f... ORPHA:533
Congenital Enterovirus Infection
Hepatic failure, Cholestasis, Anemia, Hepatitis, Thrombocytopenia, Skin rash, Abnormal macrophage... ORPHA:292
Fibular Hemimelia
Fibular hypoplasia, Abnormal bone ossification, Limited knee flexion/extension, Short tibia, Shor... ORPHA:93323
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Proteinuria, Hydronephrosis, Prostatitis, Lymphocytoma cut... ORPHA:449395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nep... ORPHA:37042
Bacterial Toxic-Shock Syndrome
Cellulitis, Increased circulating myelocyte count, Tachypnea, Hepatitis, Fasciitis, Thrombocytope... ORPHA:36234
Whipple Disease
Myositis, Uveitis, Gastrointestinal hemorrhage, Infectious encephalitis, Splenomegaly, Hypotensio... ORPHA:3452
Nonproductive cough, Increased circulating lactate dehydrogenase concentration, Respiratory failu... ORPHA:723
Propionic Acidemia
Pancytopenia, Cerebellar hemorrhage, Limb hypertonia, Tachypnea, Coma, Hepatomegaly, Dehydration,... OMIM:606054
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Proteinuria, Hypertension, Skin rash, Congestive heart failure, ... ORPHA:183
Primary Sjögren Syndrome
Optic neuritis, Biliary cirrhosis, Lymphoma, Chronic hepatitis, Decreased proportion of CD4-posit... ORPHA:289390
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Abnormal mitral valve morphology, Abnormality of blood circulation, Tachypnea, Ventric... ORPHA:860
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Hepatosplenomega... OMIM:615952
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Hyperlipidemia, Small fo... ORPHA:567983
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Coarse hair, Cryptorchidism, Hydronephrosis, Inguinal hernia, Cholelithiasis, Intrauterine growth... ORPHA:83617
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, R... ORPHA:444463
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Increased circulating lactate dehydrogenase concentration, Maculopapu... ORPHA:319213
X-Linked Lymphoproliferative Disease
Pancytopenia, Hepatic failure, Histiocytosis, Absent natural killer cells, Increased T cell count... ORPHA:2442
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Sideroblastic anemia, Hepatosplenomegaly, Pyridoxine-responsive sideroblastic anemia, Decreased m... OMIM:206000
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Schistocytosis, Reticulocytosis, Macrocytic anemia,... ORPHA:3202
Acrocapitofemoral Dysplasia
Small finger, Genu varum, Delayed ossification of carpal bones, Cone-shaped metacarpal epiphyses,... OMIM:607778
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Malignant Atrophic Papulosis
Abnormal myocardium morphology, Gastrointestinal hemorrhage, Abnormal pericardium morphology, Per... ORPHA:679
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Micromelia, Limb undergrowth, Short tibia, Short long... OMIM:118651
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Anemia, Hypochromia OMIM:206100
Short Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Intrauterine growth retardation, Lethargy, Increased level of methylsuccinic a... ORPHA:26792
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Pancreatitis, Hepatomegaly, Coma, Neutropenia, Anemia, Lethargy, Failure to thrive,... ORPHA:79312
Bone Marrow Failure Syndrome 6
Osteopenia, Neutropenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, ... OMIM:618849
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Atrial septal defect, Cryptorchidism, Tachypnea, Growth d... OMIM:614857
Complete Atrioventricular Septal Defect
Left-to-right shunt, Tachypnea, Crackles, Right bundle branch block, Pulmonary venous hypertensio... ORPHA:1329
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the ulna, Fibular hypoplasia, Hypoplasia of the radius, Absent ossification of calv... OMIM:601376
Interstitial cardiac fibrosis, Uveitis, Episcleritis, Gastrointestinal telangiectasia, Fasciitis,... ORPHA:801
Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis, Pancrea... ORPHA:2552
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Tachypnea, Hypertension, Nodular pattern on pulmonary HRCT, Reticulonodular ... ORPHA:79126
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Paratracheal lymphadenopathy, Leukopenia, Myositis, Skeletal muscle atrophy, ... OMIM:615934
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Leukocytosis, Leukopenia, Pneumonia, Hypoxemia, Neut... ORPHA:36238
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Acute myeloid leukemia, Neutropenia, Anemia, Increased mean corpuscular volume, Thr... OMIM:619041
Hepatic failure, Uveitis, Hemolytic-uremic syndrome, Cholestasis, Failure to thrive in infancy, U... ORPHA:810
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Increased circulating lactate dehydrogenase concentrati... ORPHA:99827
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hemolytic anem... OMIM:616689
Syndactyly Type 4
Toe syndactyly, 6 metacarpals, Foot polydactyly, Triphalangeal thumb, Hand polydactyly, 1-5 finge... ORPHA:93405
Cellulitis, Gastrointestinal hemorrhage, Hematemesis, Hepatitis, Pancreatitis, Fasciitis, Acute i... ORPHA:73263
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Kikuchi-Fujimoto Disease
Increased circulating lactate dehydrogenase concentration, Anemia, Malar rash, Lymphocytosis, Thr... ORPHA:50918
Carcinoid Syndrome
Intestinal carcinoid, Paraganglioma, Pulmonary carcinoid tumor, Asthma, Rhinorrhea, Palpitations,... ORPHA:100093
Rigid Spine Syndrome
Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atrophy, Hyperlordosis, Res... ORPHA:97244
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Thrombocytopenia,... OMIM:615285
Primary Myelofibrosis
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Petechiae, Hepatosplenom... ORPHA:824
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Reduced ejection fraction, Periportal fibrosis, Hypertrophic cardiomyopathy, S... OMIM:201475
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Thrombocytopenia, Decreased skull ossification ORPHA:3319
Rheumatic Fever
Sinusitis, Nephrotic syndrome, Abnormal heart valve morphology, Arrhythmia, Arthritis, Abnormal m... ORPHA:3099
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Tachypnea, Ventricular septal defect, Inflammatory abnormality of the skin, Ventricular fibrillat... ORPHA:26793
Acromesomelic Dysplasia 2A
Acromesomelia, Pes valgus, Valgus hand deformity, Hypoplasia of the ulna, Flexion contracture, Fi... OMIM:200700
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Interstitial pneumonitis, Splenomegaly, Neutropen... ORPHA:231154
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Restrictive ventilatory defect, Pulmonary hemorrhage, Tachypnea, Cough, Dyspnea, Crescentic glome... OMIM:616414
Dyskeratosis Congenita, Autosomal Dominant 1
Premature graying of hair, Bone marrow hypocellularity, Interstitial pneumonitis, Squamous cell c... OMIM:127550
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Anemia, Hypochromic Microcytic, With Iron Overload 2
Increased circulating ferritin concentration, Poikilocytosis, Splenomegaly, Anemia, Decreased mea... OMIM:615234
Immune-Mediated Necrotizing Myopathy
Myositis, Congestive heart failure, Skeletal muscle atrophy, Proximal muscle weakness in lower li... ORPHA:206569
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Coronary Arterial Fistula
Tachypnea, Coronary artery aneurysm, Pedal edema, Cardiomegaly, Patent foramen ovale, Arrhythmia,... ORPHA:2041
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Chronic hepati... ORPHA:231226
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Recurrent skin infections, Acne inversa, Hepatomega... OMIM:233600
Antisynthetase Syndrome
Myositis, Aortic regurgitation, Myocarditis, Cough, Neoplasm, Telangiectasia of the skin, Pulmona... ORPHA:81
Methylcobalamin Deficiency Type Cble
Pancytopenia, Hyperhomocystinemia, Clinodactyly, Osteoporosis, Neutropenia, Increased mean corpus... ORPHA:2169
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Squamous ... ORPHA:60032
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Eczema, Lymphadenopathy, Otitis media, ... OMIM:608971
Diamond-Blackfan Anemia 6
Mitral regurgitation, Tracheomalacia, Triphalangeal thumb, Short thumb, Micrognathia, Increased m... OMIM:612561
Retinitis Pigmentosa 42
Pallor OMIM:612943
X-Linked Agammaglobulinemia
Cellulitis, Anemia, Hepatitis, Thrombocytopenia, Conjunctivitis, Skin rash, Recurrent pneumonia, ... ORPHA:47
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume, Epistaxis OMIM:273900
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Respiratory failure... OMIM:263000
Leukocyte Adhesion Deficiency, Type Iii
Petechiae, Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Splenomegaly, Hepatomegal... OMIM:612840
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Abnormal erythrocyte... ORPHA:98870
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent skin infections, Erythema nodosum, Hemophagocytosis, Colitis, Splenomegal... OMIM:300635
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Megaloblastic anemia, Increased mean corpuscular volume OMIM:261000
Thrombocytopenia 1
Intermittent thrombocytopenia, Joint hemorrhage, Congenital thrombocytopenia, Decreased mean plat... OMIM:313900
Nemaline Myopathy 3
Dilated cardiomyopathy, Nemaline bodies, Slender build, Facial palsy, Hyperlordosis, EMG: myopath... OMIM:161800
Gastrointestinal stroma tumor, Cellulitis, Sinus tachycardia, Lymphoma, Telangiectasia of the ski... ORPHA:221
Holocarboxylase Synthetase Deficiency
Tachypnea, Coma, Alopecia, Growth delay, Lethargy, Eczema, Organic aciduria, Respiratory distress... ORPHA:79242
Wilson Disease
Hepatic steatosis, Bruising susceptibility, Cirrhosis, Weight loss, Proximal muscle weakness in l... ORPHA:905
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Hypoxemia, Tachypnea, Productive cough... ORPHA:454836
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Kyphosis, Flexion contracture, Short neck, Increased variability in muscl... OMIM:300718
Felty Syndrome
Cellulitis, Lymphoma, Episcleritis, Anemia, Thrombocytopenia, Recurrent pneumonia, Chronic otitis... ORPHA:47612
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Tachypnea, Anemia, Prolonged prothrombin time, Leukopenia, Thrombocytosis, Lipid ... ORPHA:20
Sandhoff Disease
Cherry red spot of the macula, Kyphosis, Congestive heart failure, Splenomegaly, Hepatomegaly, Re... ORPHA:796
Rat-Bite Fever
Lymphadenitis, Erythema nodosum, Weight loss, Arthritis, Parotitis, Maculopapular exanthema, Endo... ORPHA:31205
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Multiple Acyl-Coa Dehydrogenase Deficiency
Increased circulating lactate dehydrogenase concentration, Lacticaciduria, Hepatic periportal nec... ORPHA:26791
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Splenomegaly, Hepatomegaly, Letharg... OMIM:602390
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase level, Increased mean corpuscular volume, Macrocytic anemia... OMIM:610629
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Interstitial Lung Disease 1
Restrictive ventilatory defect, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Lethargy, Failure to thrive, Scoliosis, Cardiomyopathy, Ethylmalonic aciduri... OMIM:201470
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Failure to thrive in infancy, Anisopoikilocy... ORPHA:231214
Ghosal Hematodiaphyseal Dysplasia
Bowing of the long bones, Abnormality of pelvic girdle bone morphology, Craniofacial hyperostosis... ORPHA:1802
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Short neck, Small for gestational age, Dysplastic sacrum, Tachypnea, Pulmonary arterial hypertens... OMIM:613320
Osebold-Remondini Syndrome
Broad toe, Carpal synostosis, Hypoplasia of the ulna, Bipartite calcaneus, Fibular hypoplasia, Ty... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Brachydactyly, Bowing of the long bones, Synostosis of carpal bones, Joint stiffness, Fibular hyp... ORPHA:2098
Congenital Bile Acid Synthesis Defect Type 2
Renal cyst, Hepatic failure, Hepatic steatosis, Increased circulating lactate dehydrogenase conce... ORPHA:79303
Retinitis Pigmentosa 81
Pallor OMIM:617871
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Abnormal jugular vein morphology, Coombs-positive hemolytic anem... ORPHA:464343
Pulmonary Blastoma
Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma, Weight loss ORPHA:64741
Acromesomelic Dysplasia 2C
Acromesomelia, Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Fibular... OMIM:201250
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Knee flexion contracture, Lumbar hyperlordosis, Short stature, Congenital foot contractures, Scol... OMIM:602484
Carnitine Deficiency, Systemic Primary
Hepatic steatosis, Congestive heart failure, Endocardial fibroelastosis, Reduced muscle carnitine... OMIM:212140
Systemic Sclerosis
Interstitial cardiac fibrosis, Proteinuria, Nail bed telangiectasia, Gastrointestinal telangiecta... ORPHA:90291
Nemaline Myopathy 2
Slender build, Increased variability in muscle fiber diameter, Limb muscle weakness, Scoliosis, A... OMIM:256030
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Cholelithiasis, Decreased liver function, Jaundice, Erythroid hyperp... ORPHA:231222
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Familial Pseudohyperkalemia
Hyperkalemia, Increased mean corpuscular volume, Hypertension, Stomatocytosis, Reticulocytosis, E... ORPHA:90044
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Failure to thrive, Eczematoid dermatitis OMIM:269840
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arterial fibromuscular dysplasia, Arteriosclerosis, Arte... ORPHA:494424
Abnormality of the vertebral column, Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitiv... ORPHA:1163
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
Myosclerosis, Autosomal Recessive
Achilles tendon contracture, Thoracolumbar scoliosis, Lumbar hyperlordosis, Short stature, Spinal... OMIM:255600
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal cardiovascular system physiology, Hepatomegaly, ... ORPHA:50251
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Anisocytosis, Hepatocellular necrosis, Chronic hemolytic anemia, Ventricular hypertrop... OMIM:618278
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the ulna, Coxa valga, Abnormal femoral neck morphology,... OMIM:127300
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Ventricular septal defect, Hypoplastic left atrium OMIM:615524
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume, Epistaxis OMIM:615193
Cardiac arrest, Gastrointestinal hemorrhage, Arrhythmia, Infectious encephalitis, Abnormal pulmon... ORPHA:99745
Idiopathic Neonatal Atrial Flutter
Large for gestational age, Reduced ejection fraction, Arrhythmia, Abnormal left ventricular funct... ORPHA:45452
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Intrauterine growth retardation, Hypertrophic cardiomy... ORPHA:71212
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Acute kidney injury, Proteinuria, Decreased glomerular filtration rate, Scl... ORPHA:93126
Von Hippel-Lindau Disease
Elevated urinary catecholamines, Pancreatic endocrine tumor, Hypertension, Renal cell carcinoma, ... ORPHA:892
Pulmonary Alveolar Microlithiasis
Hypoxemia, Tachypnea, Increased pulmonary vascular resistance, Bronchitis, Respiratory tract infe... ORPHA:60025
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Inflammatory abnormality of the skin, Pa... ORPHA:3260
Arterial Tortuosity Syndrome
Cardiac arrest, Telangiectasia of the skin, Inguinal hernia, Scoliosis, Hypertension, Cardiorespi... ORPHA:3342
Oslam Syndrome
Abnormality of neutrophils, Clinodactyly of the 5th finger, Radioulnar synostosis, Increased mean... ORPHA:2760
Mercury Poisoning
Acute kidney injury, Interstitial pneumonitis, Hypotension, Respiratory failure, Confusion, Dyspn... ORPHA:330021
Léri-Weill Dyschondrosteosis
Abnormal hip bone morphology, Genu varum, Abnormality of the ulna, Clinodactyly of the 5th finger... ORPHA:240
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Thrombocytopenia, Small vessel ... OMIM:600903
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Leukopenia, Pancreatitis, Hepatomegaly, Coma, Lethargy, Anemia, Cardiomyopathy... ORPHA:27
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy, B-cell lymphoma ORPHA:52416
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia, Dextrocardia OMIM:221950
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemi... ORPHA:848
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Foam cells, H... ORPHA:264675
Relapsing Polychondritis
Uveitis, Proteinuria, Scleritis, Abnormal aortic valve morphology, Abnormal pattern of respiratio... ORPHA:728
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Decreased urine output, Acute kidney injury, Hypoxemia, In... ORPHA:542323
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatic steatosis, Distal arthrogryposis, Arrhythmia, Skeletal muscle atrophy, Decreased liver fu... ORPHA:42
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Kyphosis, Abnormal form of the vertebral bodies, Vertebral wedging, Beaki... ORPHA:40
Gm1 Gangliosidosis
Cherry red spot of the macula, Macroglossia, Inguinal hernia, Scoliosis, Ventricular septal defec... ORPHA:354
Wild Type Attr Amyloidosis
Nephrotic syndrome, Arrhythmia, Proteinuria, Congestive heart failure, Abnormal EKG, Hypertrophic... ORPHA:330001
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Fibular hypoplasia, Radial club hand, Sandal gap, Short 5th finger, Hypop... ORPHA:1972
Gastrointestinal hemorrhage, Abnormal mitral valve morphology, Chondrocalcinosis, Elevated aldola... ORPHA:732
Cardiocranial Syndrome, Pfeiffer Type
Small hypothenar eminence, Umbilical hernia, Contracture of the proximal interphalangeal joint of... ORPHA:2872
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Reduced consciousness/confusion, Excessive daytime somnolence, Tach... ORPHA:134
Familial Isolated Restrictive Cardiomyopathy
Right atrial enlargement, Interstitial cardiac fibrosis, Peripheral edema, Abnormal left ventricu... ORPHA:75249
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Respiratory failure requiring assisted ve... ORPHA:79345
Lethal Infantile Mitochondrial Myopathy
Fatal liver failure in infancy, Lethargy, Cardiomyopathy, Renal insufficiency, Neonatal respirato... ORPHA:254857
Retinitis Pigmentosa 60
Pallor OMIM:613983
Schimke Immuno-Osseous Dysplasia
Proteinuria, Disproportionate short-trunk short stature, Anemia, Atherosclerosis, Hypertension, M... ORPHA:1830
Multiple Carboxylase Deficiency
Tachypnea, Coma, Lethargy, Abnormal enzyme/coenzyme activity, Decreased biotinidase level, Limb m... ORPHA:148
Combined Oxidative Phosphorylation Deficiency 52
Hepatic steatosis, Lacticaciduria, Elevated circulating alanine aminotransferase concentration, E... OMIM:619386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Limb-girdle muscle atrophy, Limb-girdle muscular dystrophy, Limb-girdle musc... OMIM:608099
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Abnormal respiratory system physiology, Tachypnea, Right bundle branch ... ORPHA:99106
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic c... OMIM:115197
Autosomal Agammaglobulinemia
Sinusitis, Cellulitis, Recurrent skin infections, Arthritis, Cough, Verrucae, Bronchiectasis, Neu... ORPHA:33110
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated bronchoalveolar lavage fluid neutrophil proportion, Hypoxemia, Crackles, Tachypnea, Vent... OMIM:610978
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Thoracic kyphoscoliosis, Portal hypertension, Failure to thrive in infancy, Reduced... OMIM:613385
Vexas Syndrome
Neutrophilic infiltration of the skin, Chondritis of pinna, Arteritis, Myelodysplasia, Inflammato... OMIM:301054
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Portal hypertension, Elevated jugular venous pressure, Arrhythmia, Congestive heart... ORPHA:465508
Hereditary Spherocytosis
Cholelithiasis, Maculopapular exanthema, Increased mean corpuscular hemoglobin concentration, Spl... ORPHA:822
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Lumbar hyperlordosis, Short stature, Hypogonadotropic hypogonadism OMIM:253320
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Cryptorchidism, Abnormal mitral valve morphology, Cerebral arter... ORPHA:1192
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Autoimmune Lymphoproliferative Syndrome
Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurr... ORPHA:3261
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Colchicine Poisoning
Oliguria, Hypovolemia, Leukocytosis, Arrhythmia, Congestive heart failure, Cardiogenic shock, Red... ORPHA:31824
African Iron Overload
Viral hepatitis, Hepatic steatosis, Increased circulating cortisol level, Congestive heart failur... ORPHA:139507
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Hydronephrosis, Hypertension,... OMIM:301068
Infection-Related Hemolytic Uremic Syndrome
Hypertension, Pancreatitis, Thrombocytopenia, Acute kidney injury, Myocarditis, Respiratory tract... ORPHA:544482
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Arrhythmia, Congestive heart failure, Skeletal muscle atrophy, Hyperlordosis... ORPHA:157973
Hurler-Scheie Syndrome
Generalized hirsutism, Abnormal heart valve morphology, Hernia, Splenomegaly, Hepatomegaly, Abnor... ORPHA:93476
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Decreased proportion of CD3-positive T ... OMIM:615615
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Leukocytosis, Retinal hemorrhage, Acute myeloid leuke... ORPHA:86839
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hyperlordosis, Increased adipose tissue, Short stature, Scoliosis, Spinal rigidity OMIM:617404
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Cerebellar hemorrhage, Tubulointerstitial nephritis, Hepatome... OMIM:251000
Cystic Echinococcosis
Abnormality of the vertebral column, Abnormality of the testis size, Elevated gamma-glutamyltrans... ORPHA:400
Primary Pulmonary Hypoplasia
Ureteral stenosis, Restrictive ventilatory defect, Hypoxemia, Intrauterine growth retardation, As... ORPHA:2257
Loeffler Endocarditis
T-wave inversion, Right bundle branch block, Abnormal cardiomyocyte morphology, Endocardial fibro... ORPHA:75566
Double Outlet Right Ventricle
Tetralogy of Fallot, Tachypnea, Double outlet right ventricle, Pulmonic stenosis, Coarctation of ... ORPHA:3426
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Myocardial infarction, Neutrophil inclusion bodies, ... OMIM:155100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly, Growth delay, Eczema, Failure to thrive, Scoliosis, Elevate... OMIM:615895
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, My... ORPHA:3226
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Decreased proportion of CD3-positive T cel... ORPHA:169160
Diamond-Blackfan Anemia 7
Osteopenia, Triphalangeal thumb, Osteoporosis, Short thumb, Neutropenia, Increased mean corpuscul... OMIM:612562
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy, Hepatomegaly ORPHA:79281
Takayasu Arteritis
Abnormal endocardium morphology, Vascular dilatation, Abnormal heart valve morphology, Weight los... ORPHA:3287
Sebastian syndrome
Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bodies, Thrombocytopenia, Epist... OMIM:605249
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Long eyelashes, Hepatomegaly, Lethargy, Pulmonary arterial hyperten... OMIM:619064
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Respiratory failure requir... ORPHA:555874
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Hepatomegaly, Lethargy, Anemia, Failure to thrive, Renal insufficiency, Dehydration, Respir... ORPHA:28
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Respiratory failure, Hypertrophic cardiomyopathy, Hepatomegaly, Lethargy,... OMIM:614299
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology, Dyspnea OMIM:219400
Histiocytoid Cardiomyopathy
Shortened PR interval, Tachypnea, Right bundle branch block, Atrial fibrillation, Ventricular sep... ORPHA:137675
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98853
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Hand muscle atrophy, Atlantoaxial instability, Os odontoideum, Spondylolysis, Respiratory failure... OMIM:600561
Eiken Syndrome
Metaphyseal irregularity, Abnormal fingertip morphology, Abnormal trabecular bone morphology, Sho... ORPHA:79106
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hepatic steatosis, Hypertrophic cardiomyopathy, Myoglobinuria, Growth del... OMIM:231530
Hyperinsulinism Due To Ucp2 Deficiency
Large for gestational age, Drowsiness, Hypertrophic cardiomyopathy, Hepatomegaly, Loss of conscio... ORPHA:276556
Immunodeficiency 52
Recurrent pneumonia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly,... OMIM:617514
Mitochondrial Complex I Deficiency, Nuclear Type 6
Respiratory insufficiency, Failure to thrive, Hypertrophic cardiomyopathy, Lethargy OMIM:618228
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Drowsiness, Hypertrophic cardiomyopathy, Hepatomegaly, Loss of conscio... ORPHA:276575
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia, Gastrointestinal hemorrhage OMIM:137560
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98863
Biotinidase Deficiency
Recurrent skin infections, Tachypnea, Splenomegaly, Hepatomegaly, Lethargy, Decreased biotinidase... OMIM:253260
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Stage 5 chronic kidney disease, Hypertrophic cardiomyopathy, Failure t... OMIM:618250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Hepatic steatosis, Congestive heart failure, Generalized amy... ORPHA:52430
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Odontoma, Atherosclerosis, Hepatic failure, Myocarditis ORPHA:2724
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Recurrent respir... OMIM:618495
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Chronic hepatitis, Hydronephrosis, Intrahepatic cholestasis, Hepatitis, V... OMIM:614921
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Failure to thrive, Cardiomyopathy OMIM:613752
Mucolipidosis Type Iii
Abnormal heart valve morphology, Abnormal form of the vertebral bodies, Hyperlordosis, Acne, Abno... ORPHA:577
Myopathy, X-Linked, With Postural Muscle Atrophy
Short neck, Flexion contracture, Arrhythmia, Hypertrophic cardiomyopathy, Back pain, Spinal rigid... OMIM:300696
Shwachman-Diamond Syndrome
Pancytopenia, Chronic neutropenia, Anemia, Aplastic anemia, Metaphyseal widening, Thrombocytopeni... ORPHA:811
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Hamartoma, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight ... ORPHA:141152
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Macrothrombocytopenia OMIM:600208
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Pneumonia, Hypoxemia, Tachypnea, Hypotension, Respiratory failure, Respiratory tr... ORPHA:70587
Hodgkin Lymphoma
Lymphoma, Splenomegaly, Hepatomegaly, Neoplasm, Cough, Dyspnea, Lymphadenopathy, Weight loss ORPHA:98293
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent otitis media, Autoimmune hemolytic anemia, Membranous nephropathy, Stage 5 chronic kidn... OMIM:615559
Hemochromatosis, Neonatal
Hepatic failure, Intrauterine growth retardation, Cholestasis, Oligohydramnios, Nonimmune hydrops... OMIM:231100
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Foot dorsiflexor weakness, Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs... ORPHA:63273
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Thoracic scoliosis, Thoracic kyphosis, Absent muscle dystrophin expressio... ORPHA:206546
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular vo... OMIM:611590
Rhabdoid Tumor
Renal neoplasm, Sarcoma, Hematuria, Neoplasm of the liver, Neoplasm of the central nervous system... ORPHA:69077
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Cholestasis, Slender build, Bile duct proliferation, Tachypnea, Inguinal hernia, An... OMIM:613658
Infantile Sialic Acid Storage Disease
Fair hair, Nephrotic syndrome, Vacuolated lymphocytes, Congestive heart failure, Hydrops fetalis,... OMIM:269920
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Drowsiness, Hypertrophic cardiomyopathy, Hepatomegaly, Loss of conscio... ORPHA:276580
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased inflammator... OMIM:209950
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased proportion of CD3-positive T cells, Pneumonia, S... ORPHA:276
Niemann-Pick Disease, Type B
Foam cells with lamellar inclusion bodies, Splenomegaly, Hepatomegaly, Dyspnea, Anemia, Recurrent... OMIM:607616
Citrullinemia Type I
Hepatic failure, Tachypnea, Coma, Loss of consciousness, Lethargy, Failure to thrive, Torticollis ORPHA:247525
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Hepatosplenomegaly, Diffuse alveolar hemorrhage, Reticular patter... ORPHA:99931
Griscelli Syndrome
Premature graying of hair, Abnormal eyebrow morphology, Leukopenia, Bone marrow hypocellularity, ... ORPHA:381
Hepatocellular Carcinoma
Anemia, Hepatic necrosis, Pedal edema, Budd-Chiari syndrome, Liver abscess, Ascites, Thrombocytop... ORPHA:88673
Simple Cryoglobulinemia
Viral hepatitis, Gastrointestinal hemorrhage, Proteinuria, Hypertension, Microscopic hematuria, C... ORPHA:91139
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Hyperlordosis, Scoliosis, Calf muscle hypertrophy, Reduced vital capacit... OMIM:617760
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Tachypnea, Abnormal superior vena cav... ORPHA:3384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Microp... OMIM:613156
Lymphoid Interstitial Pneumonia
Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia OMIM:247610
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Slender build, Limb-girdle muscle weakness, Hyperlordosis, Exertiona... ORPHA:352470
Hypothyroidism, Congenital, Nongoitrous, 7
Short stature, Growth delay, Lethargy OMIM:618573
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Pancreatitis, Hepatomegaly, Coma, Lethargy, Neutropenia, Anemia, Growt... ORPHA:289916
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced ... OMIM:231200
Isolated Glycerol Kinase Deficiency
Cryptorchidism, Short stature, Hyperlordosis, Scoliosis ORPHA:408
His Bundle Tachycardia
Arrhythmia, Junctional ectopic tachycardia, Cardiomyopathy, Neoplasm of the heart ORPHA:3283
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Camptodactyly of finger, Small for gestational age, Intrauterine growth retardation, Respiratory ... OMIM:604320
Neuronopathy, Distal Hereditary Motor, Type Viii
Kyphosis, Hyperlordosis, Knee flexion contracture, Scoliosis, Hip contracture, Arthrogryposis mul... OMIM:600175
Scorpion Envenomation
Glycosuria, Increased circulating lactate dehydrogenase concentration, Premature ventricular cont... ORPHA:466677
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, Autoimmune hemolytic anemia, Hepatitis, Oropharyngeal squa... ORPHA:391487
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in upper limbs, Proximal upper limb amyotrophy, Absent muscle fiber emer... ORPHA:98855
Cocaine Intoxication
Increased circulating lactate dehydrogenase concentration, Proteinuria, Tachypnea, Hypertension, ... ORPHA:90068
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hepatosplenomegaly, Anisocytosis, Splenomegaly, Con... OMIM:616860
Cirrhosis, Familial
Jaundice, Increased level of L-fucose in urine, Pulmonary arterial hypertension, Lethargy, Hypert... OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly, Failure to thrive,... OMIM:618234
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Thoracic kyphosis, Intervertebral space narrowing, Disproportionate short-trunk short stature, Pl... OMIM:609223
Glycogen Storage Disease Due To Acid Maltase Deficiency
Increased circulating lactate dehydrogenase concentration, Shortened PR interval, Lower limb musc... ORPHA:365
Hemorrhagic Fever-Renal Syndrome
Subconjunctival hemorrhage, Acute tubulointerstitial nephritis, Proteinuria, Excessive daytime so... ORPHA:340
Spinal Muscular Atrophy, Infantile, James Type
Lower limb muscle weakness, Increased variability in muscle fiber diameter, Type 1 muscle fiber p... OMIM:619042
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Coarse hair, Anterior beaking of lumbar vertebrae, Thick eyebrow, Urinary... OMIM:253220
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Biliary cirrhosis, Ureteral atresia, Cholestasis, Atrial septal defect, Bile duc... OMIM:208540
Dihydrolipoamide Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Decreased liver function, Hepatomegaly, Lethargy, Elevated hepatic t... OMIM:246900
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Lymphoma, Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased... OMIM:300853
Immunodeficiency 19
Recurrent respiratory infections, Recurrent otitis media, Lymphopenia, Failure to thrive OMIM:615617
Alstrom Syndrome
Scoliosis, Atherosclerosis, Hypertension, Otitis media, Decreased response to growth hormone stim... OMIM:203800
Aicardi-Goutieres Syndrome 9
Proteinuria, Anemia, Scoliosis, Hypertension, Ascites, Stage 5 chronic kidney disease, Left ventr... OMIM:619487
Bone Dysplasia, Lethal Holmgren Type
Short neck, Patent ductus arteriosus, Hernia, Atrial septal defect, Rhizomelia, Hypertrophic card... ORPHA:1842
Roifman Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Prominent eyelashes, Intrauterine grow... OMIM:616651
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Optic Atrophy 9
Pallor OMIM:616289
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Hepatocellular necrosis, Failure to thrive,... OMIM:256000
Graft Versus Host Disease
Gastrointestinal inflammation, Chronic hepatitis, Maculopapular exanthema, Inflammatory abnormali... ORPHA:39812
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiac arrest, Congestive heart failure, Megaloblastic anemia, Lethargy, Short stature, Thromboc... ORPHA:49827
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Ulcerative c... ORPHA:171
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Tachypnea, Highly arch... OMIM:220111
Mitochondrial Complex I Deficiency, Nuclear Type 3
Respiratory insufficiency, Hepatomegaly, Lethargy OMIM:618224
Myh9-Related Disease
Giant platelets, Myocardial infarction, Spontaneous, recurrent epistaxis, Neutrophil inclusion bo... ORPHA:182050
Stuve-Wiedemann Syndrome 1
Talipes, Osteoporosis, Micrognathia, Short tibia, Bowing of the long bones, Metaphyseal rarefacti... OMIM:601559
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Giant platelets, Splenomegaly, Elevated circ... OMIM:210250
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Rhabdomyolysis, Cholestasis, Arrhythmia, Congestive heart failure, Small ... OMIM:609015
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Hepatic failure, Leukocytosis, Respiratory failure, Splenomegaly, Hepatomegaly, Gro... OMIM:259720
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Drowsiness, Coma, Hepatomegaly, Confusion, Lethargy, Loss of consciousness, Failure to thrive, My... ORPHA:927
African Trypanosomiasis
Optic neuritis, Second degree atrioventricular block, Third degree atrioventricular block, Excess... ORPHA:3385
Meckel Syndrome, Type 7
Biliary cirrhosis, Portal hypertension, Hepatosplenomegaly, Cholestasis, Pancreatic cysts, Atrial... OMIM:267010
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Hernia, Urinary glycosaminoglycan excretion, Macroglossia, Anemia, Hypertrichosis, M... ORPHA:505248
Multiple Acyl-Coa Dehydrogenase Deficiency
Glycosuria, Generalized aminoaciduria, Renal cortical cysts, Hepatic steatosis, Proximal tubulopa... OMIM:231680
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal hip bone morphology, Abnormality of the ulna, Tibial bowing, A... ORPHA:3344
Hepatic failure, Leukopenia, Congestive heart failure, Splenomegaly, Myocardial infarction, Jaund... ORPHA:108
Pelger-Huet Anomaly
Short 5th metacarpal, Short 4th metacarpal, Upper limb undergrowth, Giant platelets, Polydactyly,... OMIM:169400
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Intrauterine growth retardation, Nonimmune hydrops fetalis, Splenomegaly, He... OMIM:608540
Alveolar Echinococcosis
Biliary cirrhosis, Abnormal pericardium morphology, Abnormal skeletal muscle morphology, Cholangi... ORPHA:284
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Lethargy, Failu... ORPHA:2394
Gaucher Disease Type 1
Pancytopenia, Proteinuria, Anemia, Pedal edema, Ascites, Hypersplenism, Thrombocytopenia, Abnorma... ORPHA:77259
Juvenile Neuronal Ceroid Lipofuscinosis
Episodic tachypnea, Abnormal enzyme/coenzyme activity, Abnormal heart morphology, Tachycardia, Ap... ORPHA:79264
Joubert Syndrome 7
Renal cyst, Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Scoliosis, Central a... OMIM:611560
Langer Mesomelic Dysplasia
Rudimentary fibula, Hypoplasia of the ulna, Short femoral neck, Hypoplasia of the radius, Microgn... OMIM:249700
Carnitine Palmitoyl Transferase 1A Deficiency
Renal tubular acidosis, Hepatic failure, Transient hyperlipidemia, Arrhythmia, Skeletal muscle at... ORPHA:156
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Scoliosis, Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Myopathy, Respiratory ... OMIM:255100
Fair hair, Apnea, Hypoventilation, Thoracic scoliosis, Hepatosplenomegaly, Long eyelashes, Atrial... ORPHA:79330
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Elevated circulating alanine aminotran... ORPHA:158061
Fructose-1,6-Bisphosphatase Deficiency
Hepatic steatosis, Apneic episodes in infancy, Drowsiness, Episodic tachypnea, Excessive daytime ... ORPHA:348
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Lymphoid Interstitial Pneumonia
Hypoxemia, Crackles, Rheumatoid arthritis, Pulmonary venous hypertension, Wheezing, Skin rash, Co... ORPHA:79128
Bronchial Neuroendocrine Tumor
Hepatic failure, Pulmonary carcinoid tumor, Facial telangiectasia, Abnormal pulmonary interstitia... ORPHA:97287
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Atrial septal defect, Episodic tachypnea, Decreased liver function, El... OMIM:615160
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Diffuse alveolar hemorrhage, Abnormal pulmonary vein morphol... ORPHA:199241
Cirrhotic Cardiomyopathy
Right atrial enlargement, Third heart sound, Ascites, Cardiomegaly, Left ventricular hypertrophy,... ORPHA:57777
Joubert Syndrome 9
Episodic tachypnea, Scoliosis, Apnea, Stage 5 chronic kidney disease, Hepatic fibrosis OMIM:612285
Biliary Malformation With Renal Tubular Insufficiency
Glycosuria, Generalized aminoaciduria, Renal tubular dysfunction, Proteinuria, Jaundice, Aminoaci... OMIM:210550
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Gastrointestinal hemorrhag... ORPHA:2137
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Polyuria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Tachypnea, Dyspnea, Anem... OMIM:239200
Neuraminidase Deficiency
Cherry red spot of the macula, Urinary excretion of sialylated oligosaccharides, Vacuolated lymph... OMIM:256550
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Increased variability in muscle fiber diameter, Respiratory insufficien... OMIM:618654
Rh Deficiency Syndrome
Increased circulating lactate dehydrogenase concentration, Macrocytic anemia, Hepatosplenomegaly,... ORPHA:71275
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Petechiae, Gastrointestinal hemorrhage, Hematuria, Pro... ORPHA:91138
Lipodystrophy, Congenital Generalized, Type 4
Lipodystrophy, Hepatic steatosis, Flexion contracture, Muscular dystrophy, Splenomegaly, Hepatome... OMIM:613327
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Reduced forced vital capacity, Facial palsy, Limb joint contracture, Lumb... OMIM:255310
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Growth delay, B-cell lymphoma, Lym... OMIM:619164
Mucopolysaccharidosis Type 7
Short neck, Ascites, Hydrops fetalis, Anterior beaking of lumbar vertebrae, Anterior beaking of l... ORPHA:584
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Neo... OMIM:265120
Carcinoma Of Esophagus
Esophageal neoplasm, Obesity, Cough, Lymphadenopathy, Barrett esophagus, Weight loss ORPHA:70482
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Cholestasis, Failure to ... ORPHA:746
Biliary, Renal, Neurologic, And Skeletal Syndrome
Biliary cirrhosis, Cardiac arrest, Cholestasis, Elevated gamma-glutamyltransferase level, Bile du... OMIM:619534
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Increased variability in muscle fiber diameter, Hypertension, Scapular winging, Centrally nucleat... ORPHA:437572
Idiopathic Achalasia
Cough, Recurrent aspiration pneumonia, Weight loss, Wheezing, Bronchitis ORPHA:930
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Hyperhomocystinemia, Megaloblastic anemia, Methylmalonic acidemia, Increased mean corpuscular vol... OMIM:277410
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Congenital Toxoplasmosis
Intrauterine growth retardation, Failure to thrive in infancy, Hepatomegaly, Jaundice, Anemia, Ly... ORPHA:858
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Increased circulating lactate dehydrogenase concentration, Ventricular ta... OMIM:600649
Majeed Syndrome
Microcytic anemia, Hepatosplenomegaly, Flexion contracture, Osteomyelitis, Erythroid hyperplasia,... OMIM:609628
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Atrial septal defect, Dehydration, Jaundice, Giant cell... OMIM:208085
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... OMIM:253700
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Small for gestational age, Drowsiness, Hepatomegaly, Loss of conscious... ORPHA:324575
Pancytopenia, Proteinuria, Autoimmune hemolytic anemia, Disproportionate short-trunk short statur... ORPHA:1855
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Pelvic girdle muscle weakness, Restrictive v... OMIM:607155
Hemochromatosis, Type 1
Cardiomegaly, Arrhythmia, Congestive heart failure, Ascites, Telangiectasia, Splenomegaly, Hepato... OMIM:235200
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Abnor... ORPHA:2968
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Failure to thriv... OMIM:613812
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Growth d... OMIM:613027
Absent/hypoplastic coccyx, Flexion contracture, Vacuolated lymphocytes, Hernia, Anterior beaking ... OMIM:230000
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Hyperlordosis, Interosseus muscle atrophy, Reduced vital capacity, Distal amyotrophy, Distal lowe... OMIM:607088
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Obesity, Hyperlordosis, Abnormal vertebral morp... OMIM:618363
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory failure, Lethargy, Pulmonary arterial hypertension, Failure to thrive, Hypertension, ... OMIM:605711
Isolated Biliary Atresia
Cholestasis, Elevated gamma-glutamyltransferase level, Bile duct proliferation, Acholic stools, P... ORPHA:30391
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Childhood-Onset Nemaline Myopathy
Nemaline bodies, Flexion contracture, Scapular winging, Slender build, Bradykinesia, Increased va... ORPHA:171439
Schimke Immunoosseous Dysplasia
Coarse hair, Proteinuria, Fine hair, Disproportionate short-trunk short stature, Anemia, Hyperten... OMIM:242900
Ethylene Glycol Poisoning
Tachypnea, Abnormal pattern of respiration, Atrial fibrillation, Hypertension, Pulmonary edema, C... ORPHA:31826
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Anemia, Osteomyelitis, Mandibular osteomyelitis, Facial paralys... OMIM:259710
Dengue Fever
Bruising susceptibility, Petechiae, Leukopenia, Gastrointestinal hemorrhage, Gingival bleeding, H... ORPHA:99828
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hydronephrosis, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, Cardiomegaly, Olig... OMIM:608836
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Woolly hair, Sudden cardiac death, Dyspnea, Ventricular arrhythmia, Syncope, Palpitations, Right ... OMIM:610476
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy... OMIM:607685
Acute Liver Failure
Abnormal respiratory system physiology, Gastrointestinal hemorrhage, Hepatocellular necrosis, Hep... ORPHA:90062
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Nephrotic syndrome, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Follicular Lymphoma
Lymphoma, Splenomegaly, Pleural effusion, Lymphedema, Lymphadenopathy, Abnormality of the periton... ORPHA:545
Mucopolysaccharidosis, Type Ivb
Keratan sulfate excretion in urine, Intimal thickening in the coronary arteries, Restrictive vent... OMIM:253010
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Lymphoma, Autoimmune thromboc... OMIM:613179
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Hemangioma, Venous insufficiency, Lymphopr... ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Scapuloperoneal amyotrophy, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Scol... OMIM:611067
Peripheral Cone Dystrophy
Pallor OMIM:609021
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Obesity, Jaundice, Hepatitis OMIM:234350
Cellulitis, Pneumonia, Brain abscess, Parotitis, Cutaneous abscess, Lung abscess, Prostatitis, Os... ORPHA:31202
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased proportion of memory B cell... OMIM:615897
Trichohepatoenteric Syndrome 2
Brittle hair, Woolly hair, Small for gestational age, Intrauterine growth retardation, Colitis, S... OMIM:614602
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Lymphoma, Infectious encephalitis, Burkitt lymph... OMIM:308240
Pyruvate Dehydrogenase Deficiency
Multiple lipomas, Intrauterine growth retardation, Tachypnea, Growth delay, Lethargy, Dyspnea ORPHA:765
Methylmalonic Acidemia With Homocystinuria Type Cblf
Unilateral renal agenesis, Methylmalonic aciduria, Intrauterine growth retardation, Megaloblastic... ORPHA:79284
Caroli Syndrome
Hepatic failure, Cholangitis, Polycystic kidney dysplasia, Intrahepatic cholestasis, Hematemesis,... ORPHA:480520
Classic Glucose Transporter Type 1 Deficiency Syndrome
Confusion, Abnormal erythrocyte morphology, Lethargy ORPHA:71277
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy, D-2-hydroxyglutaric aciduria OMIM:613657
Aggressive Systemic Mastocytosis
Pancytopenia, Gastrointestinal hemorrhage, Elevated total serum tryptase, Maculopapular exanthema... ORPHA:98850
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice, Growth delay, Aminoaciduria, Weight loss ORPHA:79238
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis OMIM:613783
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Ulcerative colitis, Cellulitis, Interstitial pneumonitis, Bronchiolitis OMIM:614878
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Prominent eyelashe... ORPHA:353298
Nemaline Myopathy 7
Minicore myopathy, Nemaline bodies, Limb muscle weakness, Knee flexion contracture, Lumbar hyperl... OMIM:610687
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Splenomegaly, Hepatomegaly, B-cell lymphoma, Lymphadenopathy, Weight ... ORPHA:86893
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Splenomegaly, Hepatomegaly, Abnormal pattern of respiration,... ORPHA:77260
Sialidosis Type 2
Flexion contracture, Kyphosis, Skeletal muscle atrophy, Hydrops fetalis, Splenomegaly, Hepatomega... ORPHA:87876
Combined Oxidative Phosphorylation Deficiency 37
Elevated gamma-glutamyltransferase level, Bile duct proliferation, Hypertrophic cardiomyopathy, 3... OMIM:618329
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Cherry red spot of the macula, Abnormal heart valve morphology, Intrauter... OMIM:230500
Aplasia of the phalanges of the hand, Absent radius, Peromelia, Aplasia of the tarsal bones, Abse... OMIM:200500
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Hepatic failure, Cryptorchidism, Ascites, Hepatomegaly, Jaundice, Lethargy, Abnormal enzyme/coenz... ORPHA:352
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Leukocytosis, Intrauterine growth retardation, Enamel hypoplasia, Thrombocytosis, I... OMIM:243150
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia OMIM:613112
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Pulmonary insufficienc... ORPHA:277
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Left ventricular systolic dysfunction, Abnormal macrophage morphology, Achilles tendon contractur... ORPHA:353
Aplasia/hypoplasia involving bones of the extremities, Craniosynostosis, Osteopenia, Coxa valga, ... ORPHA:356961
Common Variable Immunodeficiency
Emphysema, Gastrointestinal stroma tumor, Abnormality of the liver, Pneumonia, Restrictive ventil... ORPHA:1572
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Hydronephrosis, Anemia, Mitral regurgitation, Hypoplasia of the thymus, Lymphopen... OMIM:612541
Cranioectodermal Dysplasia 2
Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Inguinal hernia, Hypertensi... OMIM:613610
Mucopolysaccharidosis, Type Vi
Recurrent upper respiratory tract infections, Abnormal heart valve morphology, Ovoid vertebral bo... OMIM:253200
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating lactate dehydrogenase concentration, Hepatic failure, Colon c... ORPHA:158057
Isolated Sedoheptulokinase Deficiency
Portal hypertension, Flexion contracture, Cholestasis, Severe postnatal growth retardation, Diast... ORPHA:440713
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Renal cortical cysts, Small cervical vertebral bodies, Cervical spinal canal stenosis, Rhizomelic... ORPHA:397715
Immunodeficiency 54
Adrenocorticotropic hormone excess, Intrauterine growth retardation, Respiratory failure, Splenom... OMIM:609981
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic steatosis, Rhabdomyolysis, Cardiac arrest, Ventricular tachycardia, Premature ventricular... OMIM:212138
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Delayed puberty, Proteinuria, Hypertrophic cardiomyopathy, Increased hepatic glyc... ORPHA:369
Neutral Lipid Storage Disease With Myopathy
Hepatic steatosis, Hepatomegaly, Short stature, Myopathy, Cardiomyopathy, Elevated hepatic transa... OMIM:610717
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Rheumatoid arthritis, Scoliosis, Lymphopenia, Juvenile rheumatoid arthrit... OMIM:607944
Distal Nebulin Myopathy
Weakness of the intrinsic hand muscles, Nemaline bodies, Foot dorsiflexor weakness, Slender build... ORPHA:399103
Al Amyloidosis
Monoclonal light chain cardiac amyloidosis, Gastrointestinal hemorrhage, Proteinuria, Pulmonary i... ORPHA:85443
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Skin rash OMIM:619175
Neonatal short-limb short stature, Recurrent otitis media, Spinal stenosis with reduced interpedi... OMIM:100800
Myasthenic Syndrome, Congenital, 5
Type 2 muscle fiber atrophy, Hyperlordosis, Limb muscle weakness, Respiratory insufficiency due t... OMIM:603034
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormal pelvis bone morphology, Metaphyseal spurs, Cone-shaped epiphy... ORPHA:1505
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Neutropenia, Thrombocytopenia ORPHA:238459
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Pseudo-Torch Syndrome 2
Petechiae, Patent ductus arteriosus, Abnormal renal corticomedullary differentiation, Bradycardia... OMIM:617397
Immunodeficiency 8
Recurrent respiratory infections, Lymphopenia OMIM:615401
Familial Atrial Myxoma
Cardiac myxoma, Cholestasis, Congestive heart failure, Ascites, Bacterial endocarditis, Jaundice,... ORPHA:615
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Proteinuria, Splenomegaly, Acne... ORPHA:77297
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatic steatosis, Transient hyperlipidemia, Arrhythmia, Coma, Hepatomega... OMIM:255120
Necrotizing Enterocolitis
Leukocytosis, Small for gestational age, Shock, Peritonitis, Hypotension, Lethargy, Neutropenia, ... ORPHA:391673
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy, Pericarditis, Anterior uveitis, Jo... ORPHA:85414
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Flexion contracture, Limb-girdle muscle weakness, Muscular dystrophy, Lumbar hyperlordosis, Cardi... OMIM:609308
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Short neck, Intrauterine growth retardation, Severe short stature, Ab... ORPHA:1797
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Respiratory insufficiency due to muscle weakness, Foot dorsiflexor weakness, Kyphosis, Scoliosis OMIM:617087
Methylmalonic Acidemia With Homocystinuria
Failure to thrive, Lethargy, Skin rash ORPHA:26
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome