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Gene: Lpo MGI:1923363

Gene Summary

Name:

lactoperoxidase

Synonyms:

5830499B15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
abnormal lens morphology		Lpo^{tm1b(EUCOMM)Wtsi}	HOM		Early adult	1.51×10^-05

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

5 Images

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Electrocardiogram (ECG)

Waveform Image

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

5 Images

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Human diseases caused by Lpo 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.

Human diseases associated with Lpo (0 diseases)
Human diseases predicted to be associated with Lpo (1233 diseases)

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

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

Disease	Matching phenotypes	Source
Ectopia Lentis 2, Isolated, Autosomal Recessive	Ectopia lentis	OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant	Ectopia lentis	OMIM:129600
Hereditary Hyperferritinemia-Cataract Syndrome	Cataract	ORPHA:163
Cataract 35	Cataract	OMIM:609376
Cataract 36	Cataract	OMIM:613887
Cataract 29	Cataract	OMIM:115800
Cataract 4, Multiple Types	Developmental cataract	OMIM:115700
Cataract 13 With Adult I Phenotype	Developmental cataract	OMIM:116700
Cataract 37	Developmental cataract	OMIM:614422
Cataract 45	Developmental cataract	OMIM:616851
Cataract 38	Developmental cataract	OMIM:614691
Cataract And Congenital Ichthyosis	Cataract	OMIM:212400
Cochleosaccular Degeneration With Progressive Cataracts	Progressive cataract	OMIM:120040
Corneal Dystrophy, Band-Shaped	Band-shaped corneal dystrophy	OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy	Punctate corneal dystrophy	OMIM:183850
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Cataract 44	Developmental cataract	OMIM:616509
Hypertrophic Neuropathy And Cataract	Cataract	OMIM:239900
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome	Ectopia lentis	ORPHA:2084
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Gastroesophageal reflux...	ORPHA:183
Cataract 12, Multiple Types	Progressive cataract, Developmental cataract	OMIM:611597
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Trichomegaly	Cataract	OMIM:190330
Whipple Disease	Myositis, Myocardial infarction, Anorexia, Uveitis, Cough, Hypothyroidism, Infectious encephaliti...	ORPHA:3452
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Myositis, Scapular winging, Skin rash, Raynaud phenomenon, Myocarditis, ...	ORPHA:206569
Q Fever	Respiratory distress, Anorexia, Abnormal left ventricular function, Abnormality of the liver, Cho...	ORPHA:781
Cornea Plana 1, Autosomal Dominant	Flat cornea	OMIM:121400
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Interstitial cardiac fibrosis,...	ORPHA:90291
Zygomycosis	Fasciitis, Sinusitis, Abnormal cranial nerve morphology, Acute infectious pneumonia, Unusual gast...	ORPHA:73263
Cataract 14, Multiple Types	Zonular cataract	OMIM:601885
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis...	ORPHA:183675
Brucellosis	Liver abscess, Bronchitis, Anorexia, Knee osteoarthritis, Hyperhidrosis, Abnormality of the liver...	ORPHA:1304
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Renal interstitial immunoglobulin deposits, Lymphocytoma...	ORPHA:449395
Listeriosis	Respiratory distress, Liver abscess, Conjunctivitis, Cholecystitis, Vomiting, Infectious encephal...	ORPHA:533
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Legionnaires Disease	Anorexia, Abnormal lung morphology, Cough, Infectious encephalitis, Abdominal pain, Recurrent pha...	ORPHA:549
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper limb muscle weakness, ...	ORPHA:494424
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis, Chronic diar...	OMIM:233600
Aldh18A1-Related De Barsy Syndrome	Cataract	ORPHA:35664
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Abnormal renal tubule morphology, Rhinorrhea, Cough, Myocardit...	ORPHA:188
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Pulmonary embolism, Retinal t...	ORPHA:774
Thymoma	Myositis, Glomerulonephritis, Neoplasm of head and neck, Cough, Dyspnea, Ulcerative colitis, Weig...	ORPHA:99867
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia...	ORPHA:809
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Graft Versus Host Disease	Skeletal muscle atrophy, Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepa...	ORPHA:39812
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Bilateral tonic-clonic seizure, Eczema...	ORPHA:436159
Polymyositis	Myocardial infarction, Anorexia, Gastroesophageal reflux, Cough, Hepatomegaly, Abdominal pain, Di...	ORPHA:732
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,...	ORPHA:131
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Odontoma, Dysphagia, Hepatic failure, Atherosclerosis	ORPHA:2724
Primary Sjögren Syndrome	Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomia, Tubulointerstiti...	ORPHA:289390
Pauci-Immune Glomerulonephritis	Renal interstitial immunoglobulin deposits, Tubulointerstitial nephritis, Cough, Nephrotic range ...	ORPHA:93126
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Kawasaki Disease	Abnormality of nail color, Sterile pyuria, Conjunctivitis, Cholecystitis, Abdominal pain, Recurre...	ORPHA:2331
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm...	ORPHA:563
American Trypanosomiasis	Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa...	ORPHA:3386
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Secretory diarrhea, Tubulointerstitial nephritis, Colitis, Vomiti...	ORPHA:37042
Shigellosis	Anorexia, Intestinal perforation, Uveitis, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, C...	ORPHA:810
Syndromic Diarrhea	Villous atrophy, Brittle hair, Bicuspid aortic valve, Bloody diarrhea, Abnormality of the liver, ...	ORPHA:84064
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic...	ORPHA:3243
Bacterial Toxic-Shock Syndrome	Respiratory distress, Fasciitis, Sinusitis, Myositis, Tachypnea, Vomiting, Infectious encephaliti...	ORPHA:36234
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Lipodystrophy, Lipoat...	ORPHA:2348
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Anorexia, Infectious encephalitis, Glomerulo...	ORPHA:117
Simple Cryoglobulinemia	Myocardial infarction, Mesangial hypercellularity, Abnormal lung morphology, Nephritis, Membranop...	ORPHA:91139
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Anorexia, Lymphadenitis, Abnormality of the spleen,...	ORPHA:2552
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Rheumatic Fever	Nausea and vomiting, Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnorma...	ORPHA:3099
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Fasciitis, Myositis, Uveitis, Conjunctivitis, Vomiting, Abdominal pain, Recurrent pharyngitis, Va...	ORPHA:32960
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Abdominal colic, Liver abscess, Cholangitis, Overweight, Intrahepa...	ORPHA:69663
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Anteriorly placed anus, Conjunctivitis, Cough, Chondritis, Glom...	ORPHA:728
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Gastroesophageal reflux, Muscle fiber atrophy, Aspiration, Hypoven...	ORPHA:258
Immunodeficiency 57 With Autoinflammation	Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Diarrhea, Bronchiectasi...	OMIM:618108
Schimke Immuno-Osseous Dysplasia	Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Focal hemiclonic sei...	ORPHA:1830
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Villous atrophy, Uveitis, Inflammation of the large intestine, Colitis, Conju...	OMIM:614700
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Lipoat...	ORPHA:79083
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Gastroesophageal reflux, Femoral hernia, Hiatus hern...	ORPHA:3342
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Skin rash, Maculopapular exanthema, Abdomina...	OMIM:142680
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Werner Syndrome	Skeletal muscle atrophy, Myocardial infarction, Abnormal cerebral vascular morphology, Abnormal h...	ORPHA:902
Pediatric Systemic Lupus Erythematosus	Myositis, Vomiting, Nephritis, Alopecia, Abdominal pain, Raynaud phenomenon, Pericardial effusion...	ORPHA:93552
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Abdominal pain, Myocarditis...	ORPHA:829
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Nonproductive cough, Fulminant hepatitis, Odynophagia, Hyperhidro...	ORPHA:319213
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Cardiac arr...	ORPHA:139402
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Intestinal malrotation, Abnormality of the pancreas, Abnormal liver...	ORPHA:3032
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Reduced subcutaneous adipose tissue, Dilated cardiomyopathy, Gastroesophageal reflux, Decreased b...	OMIM:618097
Autoimmune Lymphoproliferative Syndrome	Hepatocellular carcinoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Vas...	ORPHA:3261
Cach Syndrome	Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Flexion contracture, Optic atro...	ORPHA:135
Dermatomyositis	Myocardial infarction, Feeding difficulties in infancy, Inflammatory myopathy, Neoplasm, Vasculit...	ORPHA:221
Immunodeficiency, Common Variable, 12, With Autoimmunity	Recurrent sinopulmonary infections, Atrophic gastritis, Alopecia, Recurrent skin infections, Recu...	OMIM:616576
Congenital Enterovirus Infection	Respiratory distress, Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardi...	ORPHA:292
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A...	OMIM:619079
Juvenile Dermatomyositis	Bundle branch block, Myositis, Cough, Calcinosis, Alopecia, Abdominal pain, Vasculitis, Cardiomyo...	ORPHA:93672
Galactosemia Iv	Cataract	OMIM:618881
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Scrub Typhus	Nausea and vomiting, Anterior uveitis, Renal insufficiency, Skin rash, Abdominal pain, Myocarditi...	ORPHA:83317
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Lipoatrophy, Polycystic ovaries, Hypertension, Coronary artery a...	ORPHA:79084
Chylous Ascites	Neoplasm, Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Infectious encephalitis, Abnormality of the kidney, Ch...	ORPHA:1163
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Nausea and vomiting, Anorexia, Abdominal...	ORPHA:79312
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Bloody diarrhea, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Chilblains,...	OMIM:615846
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Diarrhea, Recurr...	OMIM:616100
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Anorexia, Ele...	OMIM:619386
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Atrophic scars, Rheumatoi...	ORPHA:48104
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Seizure, Bradyc...	OMIM:617222
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Precocious atherosclerosis, Premature graying of hair, Increased int...	ORPHA:280365
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Renal i...	OMIM:203800
Autoinflammatory-Pancytopenia Syndrome	Membranoproliferative glomerulonephritis, Proteinuria, Intestinal inflammation, Chilblains, Lipod...	OMIM:619858
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Diarrhea, Abnormal gastroin...	ORPHA:70475
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Celiac disease, Splenomegaly,...	OMIM:619375
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Malabsorpti...	ORPHA:47
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum...	OMIM:300635
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Nasogastric tube feeding in infancy, Upper airway obstruction, Cle...	ORPHA:141152
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Esophageal varix, Arterioscl...	ORPHA:75234
Cataract 10, Multiple Types	Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract	OMIM:600881
Cataract 47	Microcornea, Cataract	OMIM:612018
Autoimmune Lymphoproliferative Syndrome, Type Iii	Hepatomegaly, Recurrent urinary tract infections, Alopecia, Lymphoproliferative disorder, Elevate...	OMIM:615559
Fusariosis	Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Abn...	ORPHA:228119
Infection-Related Hemolytic Uremic Syndrome	Anuria, Intestinal perforation, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarctions...	ORPHA:544482
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Dyspnea, Nep...	ORPHA:662
Von Hippel-Lindau Disease	Myocardial infarction, Pancreatic endocrine tumor, Hyperhidrosis, Adrenal pheochromocytoma, Abnor...	ORPHA:892
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Cholangitis, Pulmonary embolism, Feeding difficult...	ORPHA:3260
Microlissencephaly	Cerebellar atrophy, Bilateral tonic-clonic seizure with generalized onset, Pneumonia, Cerebral co...	ORPHA:1083
Lipodystrophy, Familial Partial, Type 1	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Prominent superfi...	OMIM:608600
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Diarrhea, Chronic mucocutaneous candidiasis, Gastr...	OMIM:608971
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Hyperhidrosis, Abnormal left ventricular function, Conjunctivitis,...	ORPHA:99827
Gallbladder Neuroendocrine Tumor	Anorexia, Biliary tract neoplasm, Abdominal distention, Extrahepatic cholestasis, Intermittent ja...	ORPHA:100086
Cataract 1, Multiple Types	Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract	OMIM:116200
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru...	OMIM:619644
Papa Syndrome	Increased inflammatory response, Myositis, Acne, Proteinuria, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay	Cataract, Developmental cataract	OMIM:613076
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Micropenis, Hypothyroidism, Chilblains, Rayn...	ORPHA:51
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Bronchitis, Anorexia, Colitis, Vomiting, Intractable diarrhea, Pustular rash, B-...	OMIM:619381
Chorea, Remitting, With Nystagmus And Cataract	Cataract	OMIM:601372
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Skin rash, Acne, Abnormal cerebral ...	ORPHA:758
Microscopic Polyangiitis	Sinusitis, Uveitis, Gastrointestinal infarctions, Glomerulopathy, Abdominal pain, Vasculitis, Oli...	ORPHA:727
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Nausea, Anorexia, Poor appetite, Abno...	ORPHA:2494
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Neonatal respiratory distress, Skin rash, Small for gestational ag...	ORPHA:69665
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Osteoarthritis, Nephrocalcinosis, Gastrointestinal ...	ORPHA:342
Gaisböck Syndrome	Angina pectoris, Peptic ulcer, Myocardial infarction, Overweight, Splenomegaly, Dyspnea, Peripher...	ORPHA:90041
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome, Colitis, Podocyte foot proces...	OMIM:617006
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Hand muscle weakness, Congesti...	ORPHA:98908
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Respiratory tract infection, Splenomegaly, Hepatitis, Stroke, Recurrent otitis media	ORPHA:444463
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Secretory diarrhea, Elevated gamma-glutamyltransferase level...	OMIM:619573
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Alopecia, Glomerulonephritis, Eczema, Chronic diarrhea, Ileus, Hepatitis, Arthri...	OMIM:304790
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Chronic diarrhea, Elevated...	OMIM:618805
Microcephaly-Cardiomyopathy Syndrome	Ventricular septal defect, High, narrow palate, Dilated cardiomyopathy, Seizure, Ventriculomegaly	ORPHA:2515
Tumor Predisposition Syndrome 4	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Skin rash, Glomerulonephritis, Microscopic hematur...	ORPHA:567544
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Malabsorption, Asplen...	OMIM:240300
Triosephosphate Isomerase Deficiency	Respiratory distress, Skeletal muscle atrophy, Optic disc pallor, Respiratory insufficiency due t...	OMIM:615512
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Recurrent respiratory infections, Gastritis, Hypospadias, Diarrhea, Glandular hypospadias, Nephro...	ORPHA:2575
Granulomatosis With Polyangiitis	Sinusitis, Otitis media, Cough, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Abdomina...	ORPHA:900
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Vomiting, Hepatic fibrosis, Elevated gamma-glutamy...	OMIM:278000
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Respiratory insufficiency due to muscle weakness, Feeding difficulties in infancy, ...	OMIM:161800
Tetrasomy 9P	Myositis, Biliary atresia, High palate, Micropenis, Patent foramen ovale, Bifid uvula, Dandy-Walk...	ORPHA:3310
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic d...	ORPHA:65682
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst...	OMIM:253600
Propionic Acidemia	Hepatomegaly, Apnea, Eczema, Increased level of hippuric acid in urine, Poor appetite, Feeding di...	OMIM:606054
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio...	OMIM:619991
Rat-Bite Fever	Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca...	ORPHA:31205
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Bone-m...	OMIM:607616
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Left atrial enlargement, Facial palsy,...	OMIM:160500
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Omphalocele, Recurrent respiratory infections, Intestinal obstruction, Psoriasiform dermatitis, J...	OMIM:243150
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy...	ORPHA:90068
Adult-Onset Nemaline Myopathy	Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy,...	ORPHA:171442
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Mitochondrial Complex I Deficiency, Nuclear Type 8	Optic disc pallor, Pancreatitis, Respiratory insufficiency, Dysphagia	OMIM:618230
Cataract 3, Multiple Types	Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract	OMIM:601547
Metachromatic Leukodystrophy	Urinary incontinence, Reduced leukocyte arylsulfatase A activity, Optic atrophy, Gallbladder dysf...	OMIM:250100
Cystic Echinococcosis	Abnormal peritoneum morphology, Abdominal symptom, Abnormality of the testis size, Renal cyst, El...	ORPHA:400
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Renal tubular acidosis, Seizure, Organic aciduria, Decreased activity of NADP...	ORPHA:431361
Cataract 8, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:115665
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate	OMIM:137215
Sting-Associated Vasculopathy, Infantile-Onset	Recurrent respiratory infections, Myositis, Failure to thrive, Skin rash, Skeletal muscle atrophy...	OMIM:615934
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Alopecia, Celiac disease, Iridocyclitis, Xerostomia, Hepatitis, Chronic mucoc...	ORPHA:227990
Aicardi-Goutieres Syndrome 9	Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Chilblains, Portal...	OMIM:619487
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma	ORPHA:454
Cataract 41	Nuclear cataract	OMIM:116400
Cataract, Age-Related Nuclear	Nuclear cataract	OMIM:601371
Cataract 18	Nuclear cataract	OMIM:610019
Dietary Iron Overload Disease	Viral hepatitis, Hepatic steatosis, Hepatomegaly, Congestive heart failure, Peritonitis, Esophage...	ORPHA:139507
Galloway-Mowat Syndrome 2, X-Linked	Cerebellar atrophy, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:301006
Tangier Disease	Hepatomegaly, Peripheral axonal neuropathy, Myocardial infarction, Splenomegaly, Facial diplegia,...	OMIM:205400
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Alopecia, Autoimmune hypoparathyroidism, Celiac disease, Iridocyclitis, Xeros...	ORPHA:227982
Infantile Myofibromatosis	Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Intestinal obstruction, ...	ORPHA:2591
Congenital Pancreatic Cyst	Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis	ORPHA:313906
Eosinophilic Fasciitis	Fasciitis, Myositis, Weight loss, Arthritis, Cellulitis, Muscular edema	ORPHA:3165
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Generalized amyotrophy, Neop...	ORPHA:171
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Pigment gallstones, Splenomegaly, Jaundice, Decreased glucosephosphate isomerase level, Cholecyst...	OMIM:613470
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, High palate, Glomerulonephritis, Ventriculomegaly	ORPHA:2172
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co...	ORPHA:160148
Cataract 22, Multiple Types	Nuclear cataract, Developmental cataract	OMIM:609741
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24	Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak...	ORPHA:565899
Myasthenia Gravis	Myositis, Hyperthyroidism, Raynaud phenomenon, Dyspnea, Primary adrenal insufficiency, Hepatitis,...	ORPHA:589
Metachromatic Leukodystrophy, Adult Form	Urinary incontinence, Bowel incontinence, Abdominal distention, Optic atrophy, Seizure, Cholecyst...	ORPHA:309271
Congenital Disorder Of Glycosylation, Type Iih	Cerebellar atrophy, Failure to thrive in infancy, Elevated circulating aspartate aminotransferase...	OMIM:611182
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Medial calcification of large arteries, Oropharyngeal squamous cell carcinoma, F...	ORPHA:391487
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism	Cataract	OMIM:254000
Postinfectious Vasculitis	Anorexia, Gastrointestinal inflammation, Unusual gastrointestinal infection, Bacterial endocardit...	ORPHA:48435
Rhabdoid Tumor	Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Respiratory insufficiency, We...	ORPHA:69077
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Mesangial hypercellularity, Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Cresc...	OMIM:616414
Immunodeficiency 23	Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Allergic rhinitis, Ec...	OMIM:615816
Proximal Myotonic Myopathy	Cataract	ORPHA:606
Iris Pigment Layer, Cleavage Of	Cataract	OMIM:147610
Ethylene Glycol Poisoning	Tachypnea, Vomiting, Nausea, Facial palsy, Episodic respiratory distress, Renal tubular dysfuncti...	ORPHA:31826
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Arthritis, Cardiomy...	OMIM:602390
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Ectopia lentis	ORPHA:1068
Scorpion Envenomation	Bundle branch block, Tachypnea, Hyperhidrosis, Vomiting, Prominent U wave, Hemifacial spasm, Keto...	ORPHA:466677
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis, Abdominal pain	OMIM:118830
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Prominent superfi...	OMIM:151660
Immunodeficiency, Common Variable, 6	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:613496
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Alopecia,...	ORPHA:50918
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Immunodeficiency 97 With Autoinflammation	Recurrent sinopulmonary infections, Recurrent urinary tract infections, Recurrent skin infections...	OMIM:619802
Takayasu Arteritis	Myocardial infarction, Anorexia, Hyperhidrosis, Gastrointestinal infarctions, Vasculitis, Ascendi...	ORPHA:3287
Pgm3-Cdg	High palate, Gastroesophageal reflux, Chronic otitis media, Membranoproliferative glomerulonephri...	ORPHA:443811
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Vomiting, Hepatomegaly, Sc...	ORPHA:26791
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Multifocal seizures, Synophrys, Obesity, Cleft palate, Hepatosplenomegaly, Chronic ...	OMIM:301066
Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Multiple ga...	ORPHA:733
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Reduced red cell pyruvate kinase level, Splenomegaly, Jaundice, Cholecystitis, Chol...	OMIM:266200
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, Abnormal intestine mo...	ORPHA:397596
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi...	OMIM:617319
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Pericarditis, Abnormality of the kidney, Abdominal pai...	ORPHA:767
Idiopathic Achalasia	Bronchitis, Cough, Wheezing, Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recur...	ORPHA:930
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Respiratory distress, Skeletal mu...	ORPHA:367
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Inguinal hernia, Brittle hair, Homocystinuria, Myocardial infarction, Methioninuria, Mitral valve...	OMIM:236200
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Hyperhidrosis, Gastrointestinal inflammation, Basal cell carcinoma, Abno...	ORPHA:79406
Melas	Wolff-Parkinson-White syndrome, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Ragg...	ORPHA:550
Genetic Recurrent Myoglobinuria	Elevated hepatic transaminase, Dark urine, Myositis, Renal insufficiency, Proximal muscle weaknes...	ORPHA:99845
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl...	ORPHA:26793
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Nausea and vomiting, Torticollis, Brain neoplasm, Abnormal superior cer...	ORPHA:370348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Congestive heart failure, Limb-girdle muscle weaknes...	OMIM:608099
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Diarrhea, Chronic diarrhe...	OMIM:614602
Vitamin B12-Unresponsive Methylmalonic Acidemia	Nausea and vomiting, Hepatomegaly, Renal insufficiency, Optic atrophy, Respiratory insufficiency,...	ORPHA:27
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Abnormal circulating enzyme concentration or activity, Bi...	ORPHA:2590
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Vomiting, Hepatic steatosis, Bifid uvula, Hepatomegaly, Elevated circulating aspart...	OMIM:614921
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage,...	ORPHA:99931
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Glomerulonephritis, Pneumonia	OMIM:247800
Cystic Fibrosis	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Rectal prolapse, H...	OMIM:219700
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Asthma, Atopic dermatitis, Hepatosplenomegaly, Membranous nephro...	OMIM:618999
Glycogen Storage Disease Xii	Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Splenomegaly, Jaundice, ...	OMIM:611881
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Abnormality of the ...	ORPHA:79405
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Kyrle Disease	Posterior subcapsular cataract	OMIM:149500
Cataract 43	Posterior subcapsular cataract	OMIM:616279
Rett Syndrome	Skeletal muscle atrophy, Seizure, Cholecystitis, Failure to thrive, Abnormal pattern of respiration	ORPHA:778
Metachromatic Leukodystrophy, Late Infantile Form	Urinary incontinence, Feeding difficulties in infancy, Abdominal distention, Optic atrophy, Seizu...	ORPHA:309256
Cataract 50 With Or Without Glaucoma	Cataract, Persistent pupillary membrane	OMIM:620253
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia, Cerebral atrophy, Seizure, Brain atrophy, Ventriculomegaly	ORPHA:85179
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Cardiomegaly, Feeding difficulties in infancy, Increased muscle lipi...	OMIM:608836
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car...	OMIM:300580
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Tonic seizure, Bilateral tonic-clonic seizure, Infa...	OMIM:619428
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, High palate, Type...	OMIM:255160
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Reduced forced ...	OMIM:255310
Congenital Disorder Of Glycosylation, Type Ia	Villous atrophy, Generalized-onset seizure, Cerebellar vermis hypoplasia, Feeding difficulties in...	OMIM:212065
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Vascular granular osmiophilic material ...	ORPHA:199354
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Complement Component 4A Deficiency	Vasculitis, Glomerulonephritis	OMIM:614380
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Eczema, Abdominal pain, Lym...	OMIM:615895
Systemic Lupus Erythematosus	Pericarditis, Lupus nephritis, Arthritis, Pleuritis, Seizure, Malar rash, Nephritis	OMIM:152700
Megalocornea	Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d...	OMIM:309300
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis	OMIM:235700
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Cerebellar atrophy, Epileptic spasm, Atrophy/Degeneration affecting the brainstem, Malnutrition, ...	OMIM:619971
Bronchogenic Cyst	Abnormal peritoneum morphology, Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnor...	ORPHA:2357
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Abdominal pain, ...	OMIM:615688
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Arterial stenosis, Cerebral ar...	ORPHA:1192
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Dpm3-Cdg	Elevated hepatic transaminase, Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrop...	ORPHA:263494
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Diastasis recti, Portal hypertension, Neonatal asphyxia, Fl...	ORPHA:440713
Metachromatic Leukodystrophy, Juvenile Form	Urinary incontinence, Abdominal distention, Optic atrophy, Seizure, Cholecystitis	ORPHA:309263
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,...	OMIM:620011
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Eczema, Proteinuria, Minimal change glome...	OMIM:618348
Inflammatory Bowel Disease 29	Ulcerative colitis, Crohn's disease	OMIM:618077
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Lipodystrophy, Splen...	OMIM:617591
Toxic Epidermal Necrolysis	Acute hepatic failure, Respiratory distress, Intestinal perforation, Abnormality of the urethra, ...	ORPHA:537
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Elevated...	OMIM:615422
Spondyloenchondrodysplasia	Enchondroma, Abnormal lateral ventricle morphology, Skin rash, Pneumonia, Decreased response to g...	ORPHA:1855
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou...	ORPHA:228123
Neonatal Lupus Erythematosus	Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Skin rash, Maculopapular exan...	ORPHA:398124
Myopathy, Myofibrillar, 1	Facial palsy, Respiratory insufficiency due to muscle weakness, Diarrhea, Dilated cardiomyopathy,...	OMIM:601419
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Cerebellar atrophy, Alopecia, Hypoplasia of the pons, Iridocyclitis, Corpus callosum atrophy, Sei...	ORPHA:412057
Progressive Osseous Heteroplasia	Sarcoma, Osteoarthritis, Abnormality of the parathyroid gland	ORPHA:2762
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis, Vascular dilatation	OMIM:137280
Scedosporiosis	Pericarditis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Pneumonia, Bronchitis, Bronchial br...	ORPHA:449280
Stevens-Johnson Syndrome	Acute hepatic failure, Myocardial infarction, Abnormality of the urethra, Conjunctivitis, Cough, ...	ORPHA:36426
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Right ve...	OMIM:619472
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Chronic diarrhea, Recurrent pneumonia, Recurrent sinusitis, Rec...	OMIM:614379
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Recurrent urinary tract infections, Cholangitis, Malabsorption,...	OMIM:209920
Farber Disease	Respiratory distress, Skeletal muscle atrophy, Intrahepatic cholestasis with episodic jaundice, N...	ORPHA:333
Immunodeficiency, Common Variable, 11	Recurrent respiratory infections, Mucoid diarrhea, Inflammation of the large intestine, Crohn's d...	OMIM:615767
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Diffuse cerebral atrophy, Decreased beta-galactosidase activity, Foam ce...	OMIM:230650
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Asplenia, Chronic otitis media, Neonatal respiratory distress, Abnormal a...	ORPHA:244
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro...	OMIM:613913
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Abdominal pain, Diarrhea, Recurrent upper respiratory tract infections, Vomiting, Pancreatitis	OMIM:620137
Niemann-Pick Disease, Type A	Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Skelet...	OMIM:257200
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methyl...	OMIM:251000
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Lipase Deficiency, Combined	Lipodystrophy, Pancreatitis	OMIM:246650
Cataract 20, Multiple Types	Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract	OMIM:116100
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Abnormal eyelash morphology, Splenomegaly, Pyloric ste...	ORPHA:381
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Decreased mitochondrial number, Poor appetite, Respiratory insufficiency due ...	ORPHA:352447
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, ...	ORPHA:91138
Cataract 39, Multiple Types	Lamellar cataract, Anterior polar cataract, Developmental cataract	OMIM:615188
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ...	OMIM:612937
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Abnormality of the ...	ORPHA:79411
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Hydrocephalus, Dilated cardiomy...	ORPHA:272
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Eczema, Anal fissure, Perianal abscess, Lymphadenitis, Splenomegaly, Recurren...	OMIM:618935
Cardiomyopathy, Dilated, 1B	Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra...	OMIM:600884
Citrullinemia, Type Ii, Adult-Onset	Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa...	OMIM:603471
Felty Syndrome	Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Recurrent respiratory infections, Recurrent ...	ORPHA:47612
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti...	ORPHA:2302
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Feeding difficulties, Seizure, Arrhythmia, Hype...	OMIM:616198
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Test...	ORPHA:83469
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased adipose tissue, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m...	ORPHA:1349
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Optic disc pallor, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lact...	OMIM:619167
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Primary adrenal insufficiency, Seizure, Cerebral cor...	ORPHA:2047
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Myositis, Skeletal muscle atrophy, Splenomegaly, Flexion contracture, Generalized l...	OMIM:619183
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Astrocytoma, Proteinuria, Calf muscle pseudohypertrophy, Lympho...	ORPHA:79086
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal ...	ORPHA:89842
Hyperferritinemia With Or Without Cataract	Nuclear cataract, Pulverulent cataract	OMIM:600886
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st...	ORPHA:275761
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy...	OMIM:616827
Temporal Arteritis	Retinal arteritis	OMIM:187360
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa...	OMIM:145001
Parathyroid Carcinoma	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden...	ORPHA:143
Takayasu Arteritis	Arteritis	OMIM:207600
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn...	ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Nausea and vomiting, Optic atrophy, Rena...	ORPHA:289916
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Micropenis, Seizure, Br...	OMIM:618815
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Cataract	OMIM:618660
Cardiomyopathy, Dilated, 1Gg	Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:613642
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H...	OMIM:613812
Porphyria Cutanea Tarda	Elevated hepatic iron concentration, Hepatic steatosis, Scarring, Corneal scarring, Chronic hepat...	ORPHA:101330
Cataract 5, Multiple Types	Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Seizure, Le...	OMIM:252011
Acatalasemia	Arteriosclerosis, Reduced catalase level, Severe periodontitis, Neoplasm of the larynx	ORPHA:926
Trichohepatoneurodevelopmental Syndrome	Synophrys, Coarse hair, High palate, Gastroesophageal reflux, Thoracic hypertrichosis, Hypothyroi...	OMIM:618268
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Skin rash, Neoplasm of ...	ORPHA:44890
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Hepatitis, Hypohidrosis, Enamel hypoplasia, Sparse lateral eyebrow	ORPHA:363523
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Small for gestati...	OMIM:208085
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Giant Cell Arteritis	Anorexia, Hyperhidrosis, Gastrointestinal infarctions, Cough, Abdominal aortic aneurysm, Alopecia...	ORPHA:397
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Abnormality ...	ORPHA:97244
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar atrophy, Dilated cardiomyopathy, Optic atrophy, Re...	ORPHA:254913
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Flexion contracture, In...	OMIM:300718
Myositis	Myositis	OMIM:160750
Hyperparathyroidism-Jaw Tumor Syndrome	Abnormal parathyroid morphology, Renal cyst, Nephrocalcinosis, Thyroid carcinoma, Pancreatic aden...	ORPHA:99880
Trichorhinophalangeal Syndrome, Type Ii	Chronic gastritis, Bicuspid aortic valve, Cerebral arteriovenous malformation, Myocardial infarct...	OMIM:150230
Yao Syndrome	Ventricular hypertrophy, Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal...	OMIM:617321
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Aspiration pneumonia,...	OMIM:619477
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Premature graying of hair, Distal...	OMIM:619903
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Chronic bronchitis, Cough, Splenomegaly, Panacinar emphysema, Dysp...	OMIM:613490
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome	Failure to thrive, Aspiration pneumonia	OMIM:609528
Lichen Planopilaris	Neoplasm of the oral cavity, Alopecia, Abnormal intestine morphology, Hepatitis	ORPHA:525
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Elevated gamma-glutamyltransferase level, Atrial septal defe...	OMIM:614576
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Cachexia, Hydrocephalus, Optic atrophy, Arteriosclerosis, Melanoma, Basal cell carcino...	ORPHA:220295
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Splenomegaly, Diarr...	OMIM:269840
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Dark urine,...	ORPHA:79303
Idiopathic Camptocormia	Myositis, Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Osteoarthritis, Ab...	ORPHA:1320
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Mitral valve pr...	ORPHA:230839
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Abnormal brainstem m...	ORPHA:231160
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Optic atrophy, Respiratory...	OMIM:614299
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Low choleste...	OMIM:607625
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Inflammatory abnormality of the skin, Abnormal circulating enzyme concentration or ...	ORPHA:565612
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Intrahepati...	OMIM:607765
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Common Variable Immunodeficiency	Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn...	ORPHA:1572
Panbronchiolitis, Diffuse	Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough, Foam cells	OMIM:604809
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Renal cyst, Gastrointestinal inflammation, Squamous cel...	ORPHA:79404
Cataract 32, Multiple Types	Anterior polar cataract	OMIM:115650
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Conjunctivitis, Vomiting, Cough, Infectious...	ORPHA:454836
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Dk1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Bilateral t...	ORPHA:91131
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Immunodeficiency 56	Recurrent respiratory infections, Failure to thrive, Cholangitis, Recurrent pneumonia, Chronic di...	OMIM:615207
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Dysbetalipoproteinemia	Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl...	ORPHA:412
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Nasogastric tube feeding in infancy,...	ORPHA:90117
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Abnormal peri...	ORPHA:67
Pyruvate Dehydrogenase E1-Alpha Deficiency	Neonatal respiratory distress, Ventricular septal defect, Small for gestational age, Bilateral to...	ORPHA:79243
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Melioidosis	Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A...	ORPHA:31202
Alg3-Cdg	Abnormality of the gastrointestinal tract, Abnormal circulating enzyme concentration or activity,...	ORPHA:79321
Cataract 30, Multiple Types	Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract	OMIM:116300
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Pulmonary embolism, Respiratory tract infe...	ORPHA:567548
Charcot-Marie-Tooth Disease Type 2B1	Hand muscle atrophy, Toe extensor amyotrophy, Decreased number of peripheral myelinated nerve fib...	ORPHA:98856
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Systemic Lupus Erythematosus 16	Lupus nephritis	OMIM:614420
Colchicine Poisoning	Respiratory distress, Renal insufficiency, Alopecia, Myocarditis, Diarrhea, Congestive heart fail...	ORPHA:31824
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo...	ORPHA:340
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Supernumerary nipple, Renal hypop...	OMIM:614376
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Anorexia, Diarrhea, Recurrent pneumonia, Hepatitis, Protract...	ORPHA:169160
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest	ORPHA:34587
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Highly arched eyebrow, Abnormal hair pattern, ...	ORPHA:261250
Mosaic Trisomy 9	Hypoplasia of penis, Asplenia, Abnormal lung lobation, High palate, Endocardial fibroelastosis, A...	ORPHA:99776
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Elevated hepatic transaminase, Portal hypertension, Nodular regenera...	ORPHA:64743
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma...	ORPHA:1332
Cidec-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Loss of gluteal subcut...	ORPHA:435651
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Myocardial infarction, Gout, Hypertension, Premature coronary artery athero...	OMIM:610947
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Pro...	OMIM:613404
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Respiratory trac...	ORPHA:51636
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss	ORPHA:2023
C1Q Deficiency 1	Membranoproliferative glomerulonephritis	OMIM:613652
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Recurrent respiratory infections, Skin rash, Abdominal pain, Perianal abscess,...	OMIM:301074
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr...	OMIM:600649
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Nonproductive cough, Hepatomeg...	ORPHA:97287
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension...	OMIM:613385
1P36 Deletion Syndrome	Hypoplasia of penis, Feeding difficulties in infancy, Abnormality of the spleen, Renal cyst, Abno...	ORPHA:1606
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation,...	ORPHA:79409
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Aspiration pneumonia, Cough, Nephropathy, Achalasia, Tracheobr...	ORPHA:1018
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Vomiting, Iritis, Nausea, Hepatomegaly, Abnormal EKG, Alope...	ORPHA:3385
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Urinary incontinence, Camptodactyly of...	OMIM:604320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Absent outer dynein arms, Cough...	OMIM:612444
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Dilated cardiomyopath...	ORPHA:280679
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Esophageal stricture, Dilated cardiomyopathy, Chronic diarrhea, Premature gra...	OMIM:613989
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Psoriasiform dermatitis, Ventricular septal defect, Intestinal malro...	ORPHA:436252
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cerebrotendinous Xanthomatosis	Precocious atherosclerosis, Abnormal lung morphology, Axonal degeneration, Hypothyroidism, Abnorm...	ORPHA:909
De Sanctis-Cacchione Syndrome	Bilateral tonic-clonic seizure, Keratitis, Bilateral cryptorchidism, Axonal degeneration, Optic a...	OMIM:278800
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Cerebellar atrophy, Peripheral axonal degeneration, Decreased numbe...	OMIM:302800
Hypoalphalipoproteinemia, Primary, 1	Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:604091
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Obesity, Oligozoospermia, Hypertension, Azoosper...	OMIM:615703
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Generalized-onset seizure, Skin rash, Pneumonia, Proteinuria, Nodula...	ORPHA:247691
Selective Igm Deficiency	Fasciitis, Non-Hodgkin lymphoma, Lymphadenitis, Recurrent cutaneous fungal infections, Thyroid ca...	ORPHA:331235
Autosomal Dominant Progressive External Ophthalmoplegia	Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Gastroesophageal ...	ORPHA:254892
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Glomerulopathy, Abdominal pain, Pericard...	ORPHA:36412
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Respira...	ORPHA:656
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Hepatomegaly, Abnormality...	ORPHA:480520
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu...	OMIM:264800
Atypical Werner Syndrome	Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Abnormal hair whorl, Premature gr...	ORPHA:79474
Membranoproliferative Glomerulonephritis, X-Linked	Membranoproliferative glomerulonephritis, Lipodystrophy, Cardiac shunt	OMIM:305800
Gaucher Disease	Feeding difficulties in infancy, Osteoarthritis, Cherry red spot of the macula, Hepatomegaly, Abn...	ORPHA:355
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Atrio...	OMIM:611705
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Elevated hepatic transaminase, Seizure, Peripheral axonal neuropathy, Dilated cardiomyopathy	OMIM:619688
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Feeding difficulties in infancy, Congeni...	ORPHA:191
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Low cholest...	OMIM:257220
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Aortic ath...	ORPHA:209902
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Respiratory ...	OMIM:615959
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy, Lipoatrophy	ORPHA:154
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ...	OMIM:300845
Schimke Immunoosseous Dysplasia	Renal insufficiency, Transient ischemic attack, Small for gestational age, Proteinuria, Bilateral...	OMIM:242900
Niemann-Pick Disease Type C	Generalized-onset seizure, Bone-marrow foam cells, Abnormal lung morphology, Abnormality of the l...	ORPHA:646
Acute Lung Injury	Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea,...	ORPHA:178320
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal circulating enzyme concentration or activity, Tachycardia, Optic dis...	ORPHA:79264
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o...	OMIM:266600
Familial Chylomicronemia Syndrome	Nausea and vomiting, Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal...	ORPHA:444490
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutane...	OMIM:269200
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Elevated ci...	OMIM:214950
Nephrotic Syndrome, Type 15	Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change...	OMIM:617609
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Stroke, Constrictive pericarditis, Ple...	OMIM:602248
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Recurrent respiratory infections, Recurrent urinary tract infect...	ORPHA:1334
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen...	ORPHA:228426
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Renal agenesis, Anomalous origin of left coronary artery from the pulmonary...	ORPHA:2326
Aapoaiv Amyloidosis	Abnormal lung morphology, Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruct...	ORPHA:439232
Carvajal Syndrome	Woolly hair, Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Papillary renal cell carcino...	ORPHA:363618
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy...	ORPHA:79230
Mitochondrial Dna Depletion Syndrome 11	Cerebellar atrophy, Facial palsy, Dyspnea, Dilated cardiomyopathy, Chronic diarrhea, Ragged-red m...	OMIM:615084
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Asthma, Chronic diarrhea, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colon...	OMIM:617638
Bloom Syndrome	Bronchitis, Poor appetite, Adipose tissue loss, Uveitis, Neoplasm, Gastroesophageal reflux, Neopl...	ORPHA:125
Hypocalciuric Hypercalcemia, Familial, Type Ii	Peptic ulcer, Parathormone-independent increased renal tubular calcium reabsorption, Primary hype...	OMIM:145981
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat...	ORPHA:905
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Squamous cell carcinoma, ...	ORPHA:79408
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Protein avoidance, Cerebral cortical atrophy, Decreased liver function, Generalized...	OMIM:238970
Beta-Thalassemia	Hepatomegaly, Splenomegaly, Hepatitis, Respiratory insufficiency, Cholelithiasis, Hypertrophic ca...	ORPHA:848
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m...	OMIM:225200
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Glomerulopathy, Ketonuria, Hemolytic-uremic syndrome, D...	ORPHA:79282
Cataract 31, Multiple Types	Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract	OMIM:605387
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Diarrhea, Enuresis, Seizu...	ORPHA:247585
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent bacterial skin infections, Skin rash, Pneumonia, Lymphoproliferative disorder, Lymphade...	ORPHA:911
Mccune-Albright Syndrome	Gastroesophageal reflux, Benign gastrointestinal tract tumors, Hyperthyroidism, Hepatitis, Renal ...	ORPHA:562
Malonyl-Coa Decarboxylase Deficiency	Neonatal respiratory distress, Left ventricular noncompaction cardiomyopathy, Abdominal pain, Dia...	OMIM:248360
Hypertriglyceridemia 1	Hypopituitarism, Precocious atherosclerosis	OMIM:145750
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Myocardial infarction, Abdominal pain, Intestinal perforation, Peritonitis, Rectal prolap...	ORPHA:90038
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Neph...	OMIM:232220
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Skin rash, Infantile spasms, Diarrhea, Dilated cardiomyopathy, Cerebral atrophy, Sei...	OMIM:618321
Dominant Beta-Thalassemia	Hypoparathyroidism, Hypopituitarism, Failure to thrive in infancy, Hypoplasia of the musculature,...	ORPHA:231226
Sotos Syndrome	Ureteral duplication, Astrocytoma, Cerebellar vermis hypoplasia, Flexion contracture, Neoplasm, G...	ORPHA:821
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Alg1-Cdg	Abnormality of the gastrointestinal tract, Cerebellar atrophy, Renal insufficiency, Abnormality o...	ORPHA:79327
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Foam cells, Proteinuria, Decreased lecithin cholesterol acyl transferase level	OMIM:245900
Maffucci Syndrome	Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o...	ORPHA:163634
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Generalized-onset seizure, Elevated circulating aspartate amin...	OMIM:300842
Hyperlipoproteinemia, Type Id	Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis, Pre...	OMIM:615947
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Bowel incontinence, Gastrointestinal dysmotility, Axonal degeneration, Seizure, Ca...	ORPHA:88628
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Tongue atrophy, Greater auricular nerve thickening, Facial palsy,...	OMIM:601596
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Nausea and vomiting, Orthostatic hypotension, Decreased circulating cortisol ...	ORPHA:199299
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypoglycemic seizures, Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Hypo...	ORPHA:79259
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals...	OMIM:619424
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Mitochondrial Complex I Deficiency, Nuclear Type 33	Small for gestational age, Apnea, Hypospadias, Optic atrophy, Bronchiectasis, Respiratory insuffi...	OMIM:618253
Gm1-Gangliosidosis, Type I	Hepatomegaly, Inguinal hernia, Cerebral degeneration, Abnormal heart valve morphology, Splenomega...	OMIM:230500
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi...	OMIM:612877
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Squamous cell carcinoma, Gastrointestinal inflammation, Atypical scarring of skin, Basal cell car...	ORPHA:79410
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Barth Syndrome	Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis	ORPHA:111
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormal fifth cranial nerve morphology, Cholangitis, Abnormality of the kidney, Abnor...	ORPHA:449563
Paget Disease Of Bone 6	Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left v...	OMIM:616833
Mahvash Disease	Recurrent pancreatitis, Palpitations, Pancreatic alpha-cell hyperplasia, Abdominal pain	OMIM:619290
Isobutyryl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Dilated cardiomyopathy, Vomiting, Pulmonic stenosis	ORPHA:79159
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency	Dilatation of the cerebral artery, Atherosclerosis	ORPHA:91135
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Sinusitis, Aplasia of the thymus, Pneumonia, Recurrent urinary tract infection...	ORPHA:83471
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Absent eyebrow, Renal insufficiency, Membranoproliferative ...	OMIM:137940
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Bilateral cryptorchidi...	ORPHA:66634
Dextrocardia	Meckel diverticulum, Abnormal EKG, Intestinal malrotation, Dextrocardia, Situs inversus totalis, ...	ORPHA:1666
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative co...	OMIM:618394
Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98853
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cataract 15, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:615274
Cataract 33, Multiple Types	Lamellar cataract, Nuclear cataract, Cortical cataract	OMIM:611391
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina...	ORPHA:319218
Congenital Disorder Of Glycosylation, Type Iic	Pneumonia, Widow's peak, Bronchiolitis, Periodontitis, Cellulitis, Recurrent otitis media, Febril...	OMIM:266265
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Optic atrophy, Cerebral atrophy, Respir...	OMIM:619057
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Gastroesophageal reflux, Cough, Atrial septal defect,...	ORPHA:95430
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Peutz-Jeghers Syndrome	Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop...	ORPHA:2869
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Weigh...	ORPHA:764
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1	Microcornea, Cataract	OMIM:619082
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ragged-red muscle fibers, Hyperventilation, Hepatomegaly, Dilated cardiomyopathy, Episodic...	ORPHA:255210
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Igg4-Related Pachymeningitis	Sinusitis, Lower limb muscle weakness, Lymphadenitis, Abnormal lung morphology, Dyspnea, Seizure,...	ORPHA:449427
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Brain neoplasm, Intestinal pseudo-obstruction, Prolonged QRS complex, De...	ORPHA:273
Igg4-Related Retroperitoneal Fibrosis	Anorexia, Large vessel vasculitis, Hashimoto thyroiditis, Psoriasiform dermatitis, Abdominal pain...	ORPHA:49041
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Foot joint contracture, Facial palsy, Achilles tendon contracture, Aplasia/Hypoplas...	ORPHA:456312
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Nephrolithiasis,...	OMIM:232200
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Chilblains, Cerebellar calcifications, Feeding diffi...	OMIM:225750
Inflammatory Bowel Disease 28, Autosomal Recessive	Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease	OMIM:613148
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Eczema, Celiac disease, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract ...	OMIM:615952
Hypercholesterolemia, Familial, 4	Tendon xanthomatosis, Atherosclerosis	OMIM:603813
Alkaptonuria	Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Myoca...	ORPHA:56
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Distal lower limb amyotrophy, Failure to thrive in infancy, Decreased number of large peripheral ...	ORPHA:90103
Ciliary Dyskinesia, Primary, 25	Recurrent respiratory infections, Neonatal respiratory distress, Dextrocardia, Chronic bronchitis...	OMIM:615482
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Recurrent skin infections, Proteinuria, Paten...	ORPHA:33001
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa	OMIM:608068
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica...	ORPHA:98855
Sarcoidosis	Abnormal nasal mucosa morphology, Heart block, Abnormal lung morphology, Ventricular tachycardia,...	ORPHA:797
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di...	OMIM:155310
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Intestinal pseudo-obstruction, Ragged-red muscle fibers, Atrophy/Degener...	OMIM:607459
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the...	OMIM:243700
Ciliary Dyskinesia, Primary, 39	Dextrocardia, Bronchiectasis, Decreased nasal nitric oxide, Cough, Recurrent otitis media, Recurr...	OMIM:618254
Myopia 28, Autosomal Recessive	Cataract	OMIM:619781
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Cardiac arrest...	ORPHA:20
Cholesterol-Ester Transfer Protein Deficiency	Tendon xanthomatosis, Precocious atherosclerosis	ORPHA:79506
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Asthma, Recurrent pneumonia, Hepatosplenomegaly, Mitral regurgitation, High palate, Fibroma, Hypo...	OMIM:619750
Gapo Syndrome	Alopecia, Sparse eyelashes, Abnormal cerebral vascular morphology, Sparse eyebrow, Early balding,...	ORPHA:2067
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Obesity, Myocardial infarction, Premature coronary artery atherosclerosis	OMIM:608320
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Abnormality of the kidney, Arthritis, Pleuritis, Malar rash, Abnormal renal physiology	OMIM:609939
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Celiac disease, Abdominal distention, Jaundice, Hep...	ORPHA:186
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weakness, Foot...	OMIM:616155
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Abnormality of the upp...	ORPHA:873
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Nestor-Guillermo Progeria Syndrome	Sparse scalp hair, Prominent superficial veins, Alopecia, Sparse eyelashes, Left atrial enlargeme...	OMIM:614008
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, Atopic dermatitis, Pneumonia, Recurrent upper respiratory tract infections	OMIM:618806
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Hydrocephalus, Dilated cardiomyopathy, Flexion contracture, Myocardial f...	OMIM:253800
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata...	OMIM:619705
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Intestinal pseudo-obstruction, Gastroparesis, Ragged-red muscle fibers, Dilated cardiomyopathy, A...	ORPHA:70595
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Exercise-induced myoglobinuria, Reduced forced vital capacity, Achilles tendon contracture, Dilat...	OMIM:607155
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Ao...	OMIM:617912
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Wilson Disease	Acute hepatic failure, Osteoarthritis, Aminoaciduria, Vomiting, Hepatic steatosis, Hypoparathyroi...	OMIM:277900
Maple Syrup Urine Disease	Increased level of hippuric acid in urine, Feeding difficulties in infancy, Seizure, Vomiting, Pa...	OMIM:248600
Idiopathic Bronchiectasis	Myocardial infarction, Cachexia, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Crack...	ORPHA:60033
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death...	ORPHA:99901
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Angina pectoris, Atherosclerosis	ORPHA:79292
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Hepatoblastoma, Spider hemangioma, Chronic pancre...	OMIM:232240
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Pleur...	ORPHA:314478
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr...	ORPHA:137605
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Xerostomia, Thyroiditis, Enlarged lacrimal glands, Weight los...	ORPHA:79078
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Sinusitis, Skin rash, Diarrhea, Acute otitis media, Chronic muc...	ORPHA:572
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, High p...	ORPHA:98905
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Ventricular septal defect, Bilateral tonic-clonic seizure, Generalized m...	ORPHA:435638
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Atrioventricular block, Cardiorespiratory arrest, Respiratory insufficiency, Cerebel...	ORPHA:93317
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Feeding difficul...	ORPHA:365
Tuberous Sclerosis Complex	Respiratory distress, Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocyt...	ORPHA:805
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Mirizzi Syndrome	Elevated hepatic transaminase, Dark urine, Tachycardia, Abdominal colic, Nausea, Abdominal pain, ...	ORPHA:521219
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Hypothyroi...	OMIM:601005
Gm1 Gangliosidosis	Decreased beta-galactosidase activity, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ...	ORPHA:354
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcif...	OMIM:208060
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Bilateral tonic-clonic seizure, Optic neuropathy, Feeding difficulties in infancy, ...	OMIM:610505
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Inguinal hernia, Abnormal pleura morphology, Splenomegaly, Hepa...	ORPHA:584
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Axonal dege...	OMIM:618138
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Feeding difficulties in infancy, Myoglobinuria,...	OMIM:231530
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:619343
Congenital Disorder Of Glycosylation, Type Iiw	Gastroesophageal reflux, Vomiting, Elevated gamma-glutamyltransferase level, Hepatic steatosis, H...	OMIM:619525
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Skin rash, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Hypoplasia of the thym...	OMIM:300400
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Vasculitis, Lymphoma, Arthritis	ORPHA:37748
Lysinuric Protein Intolerance	Hepatomegaly, Skeletal muscle atrophy, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Orotica...	OMIM:222700
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Glomerulonephritis	OMIM:314000
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Hepatitis, Chronic hepatitis, Hypoxemia,...	OMIM:308230
Epidermolysis Bullosa Acquisita	Abdominal pain, Abnormal hair morphology, Atypical scarring of skin, Inflammation of the large in...	ORPHA:46487
Heparin Cofactor Ii Deficiency	Post-angioplasty coronary artery restenosis	OMIM:612356
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Fulminant hepatitis, Vasculitis, Ly...	OMIM:308240
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Hypopituitarism, Failure to thrive in infancy, Hypoplasia of th...	ORPHA:231214
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Respiratory tract infection, Abdominal distention, Secre...	OMIM:619445
Hyperlipoproteinemia, Type Ii, And Deafness	Type IV atherosclerotic lesion	OMIM:144300
Nocardiosis	Respiratory distress, Liver abscess, Anorexia, Lymphadenitis, Nonproductive cough, Conjunctivitis...	ORPHA:31204
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Bilateral tonic-clonic seizure, Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy...	OMIM:618120
Mirage Syndrome	Recurrent urinary tract infections, Hypospadias, Myelodysplasia, Cryptorchidism, Hydrocephalus, C...	OMIM:617053
Esophageal Atresia	Respiratory distress, Bronchitis, Feeding difficulties in infancy, Gastrointestinal dysmotility, ...	ORPHA:1199
Marburg Hemorrhagic Fever	Anorexia, Nonproductive cough, Odynophagia, Uveitis, Bloody diarrhea, Vomiting, Nausea, Internal ...	ORPHA:99826
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Diarrhea, Stage ...	OMIM:249100
Immunodeficiency 58	Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Chronic p...	OMIM:618131
Congenital Disorder Of Glycosylation, Type Im	Inflammatory abnormality of the skin, Alopecia, Sparse eyelashes, Sparse eyebrow, Diarrhea, Dilat...	OMIM:610768
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Colitis, Recurrent bronchio...	OMIM:619164
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Congestiv...	OMIM:611126
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome	Skeletal muscle atrophy, Lymphoma, Optic atrophy, Bronchiectasis, Seizure, Decreased body weight	ORPHA:477814
Seckel Syndrome 10	Ventricular hypertrophy, Acute pancreatitis, Elevated circulating aspartate aminotransferase conc...	OMIM:617253
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Portal hypertension, Hiatus hernia, Pancreatic cysts, Splenomegaly, Hepatitis, Chol...	OMIM:610199
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, High palate, Dystrophic fingernai...	ORPHA:740
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Abdominal pain, Splenomegaly, Vas...	ORPHA:575
Paternal Uniparental Disomy Of Chromosome 1	Anhidrosis, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel morphol...	ORPHA:251004
Combined Immunodeficiency, X-Linked	Sinusitis, Recurrent bronchitis, Pneumonia, Otitis media	OMIM:312863
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Nasal polyposis, Pneumonia, Asplenia, Absent outer dynein arms, Situ...	OMIM:244400
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Increased circulating cortisol level, Ovarian cyst, Truncal obesity, Primary hyperc...	OMIM:610475
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Perianal abscess, Respi...	ORPHA:2968
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Ciliary Dyskinesia, Primary, 14	Recurrent respiratory infections, Neonatal respiratory distress, Absent inner dynein arms, Chroni...	OMIM:613807
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Synophrys, Hepatosplenomegaly, Hyperhid...	ORPHA:96123
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Flexion contracture, Right ven...	OMIM:253700
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Fair hair, Congestive h...	OMIM:302060
Pancreatitis, Hereditary	Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion, P...	OMIM:167800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ven...	OMIM:613155
Bardet-Biedl Syndrome 2	Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity	OMIM:615981
Cataract 23, Multiple Types	Lamellar cataract	OMIM:610425
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Myoclonus, Facial myokymia, Limb hypertonia	ORPHA:324588
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Resp...	OMIM:616433
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Pleural ef...	ORPHA:85414
Spastic Paraplegia 84, Autosomal Recessive	Hip contracture, Ankle flexion contracture, Knee flexion contracture, Urinary urgency, Crohn's di...	OMIM:619621
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Milroy Disease	Erysipelas, Hydrocele testis, Varicose veins, Angiosarcoma, Neoplasm of the skin, Cellulitis, Abn...	ORPHA:79452
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Pneumonia, Eczema, Splenomegaly, Asthma, Chronic diarrhea, Fa...	OMIM:607271
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Bilateral tonic-clonic seizure, Elevated circulating aspartate aminotran...	OMIM:620300
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilated cardiomyopath...	OMIM:616541
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abnormal p...	ORPHA:29207
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat...	ORPHA:2929
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Weight loss, Sarcoma	ORPHA:66661
Aniridia And Absent Patella	Aniridia, Cataract	OMIM:106220
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dicarboxylic aciduri...	ORPHA:71212
Immunodeficiency 75 With Lymphoproliferation	Recurrent respiratory infections, Lymphoma, Bronchiectasis, Hepatosplenomegaly	OMIM:619126
Mitochondrial Dna Depletion Syndrome 18	Hand muscle atrophy, Reduced forced vital capacity, Axonal degeneration, Lacticaciduria, Distal a...	OMIM:618811
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr...	OMIM:132900
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Abnormal lun...	ORPHA:2035
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent p...	OMIM:300755
Familial Hypocalciuric Hypercalcemia	Nausea and vomiting, Hypomagnesiuria, Peptic ulcer, Parathormone-independent increased renal tubu...	ORPHA:405
Amyotrophy, Hereditary Neuralgic	Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Cleft palate	OMIM:162100
Vici Syndrome	Recurrent respiratory infections, Failure to thrive, Hypopigmentation of hair, Cerebellar vermis ...	OMIM:242840
Macrophage Activation Syndrome	Increased inflammatory response, Hepatomegaly, Elevated circulating aspartate aminotransferase co...	ORPHA:158061
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Epileptic spasm, Apnea, Bilateral tonic-clonic seizure wit...	ORPHA:314655
Diaphanospondylodysostosis	Respiratory distress, Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Cleft palate, Respi...	OMIM:608022
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Camptodactyly of finger, Knee osteoarthritis, Mitr...	ORPHA:2848
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Epistaxis, Atherosclerosis	OMIM:610842
Orofaciodigital Syndrome Viii	High palate, Hamartoma, Recurrent aspiration pneumonia, Cleft palate	OMIM:300484
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Autoimmune Hypoparathyroidism	Prolonged QT interval, Calcium nephrolithiasis, Abdominal symptom, Autoimmune hypoparathyroidism,...	ORPHA:36913
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to mu...	OMIM:310200
Gardner Syndrome	Duodenal polyposis, Astrocytoma, Brain neoplasm, Multiple gastric polyps, Papillary thyroid carci...	ORPHA:79665
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Splenomegaly, Hydrocephalus, Congestive heart failure	ORPHA:163596
Hypoalphalipoproteinemia, Primary, 2	Tendon xanthomatosis, Premature coronary artery atherosclerosis	OMIM:618463
Liposarcoma	Nausea and vomiting, Abnormality of the kidney, Abdominal pain, Weight loss, Varicose veins, Sarcoma	ORPHA:69078
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivi...	OMIM:607594
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Acute rhabdomyolysis, Axonal degeneration, Cerebral atrophy, Peri...	OMIM:604168
Occipital Horn Syndrome	Venous insufficiency, High, narrow palate, Coarse hair, Gastroesophageal reflux, Femoral hernia, ...	ORPHA:198
Cornea Guttata With Anterior Polar Cataracts	Anterior polar cataract	OMIM:121390
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:608594
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic...	ORPHA:103918
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Myoclonus, Facial myokymia, Limb hypertonia	OMIM:606703
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormal cranial nerve morphology, Abnormality of the liver,...	ORPHA:90340
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Anorexia, Splenomegaly,...	OMIM:209950
Lcat Deficiency	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Premature coronary artery ather...	ORPHA:650
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Pulmonary fibrosis, Gly...	OMIM:618913
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Neoplasm, Gastroesophageal reflux, Otitis media, Atrial septal defect, Ves...	ORPHA:353281
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Respiratory failure requiring assisted ventilation, Abnormal heart valve morphology...	ORPHA:77293
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Resp...	ORPHA:26790
Aicardi Syndrome	Epileptic spasm, Cerebellar vermis hypoplasia, Infantile spasms, Hiatus hernia, Recurrent pneumon...	OMIM:304050
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Diarrhea, Recurrent pneumonia, Lymphoma, Bronchiectasis, Neoplasm, Co...	OMIM:240500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media, Failure to thriv...	OMIM:601457
Idiopathic Pulmonary Fibrosis	Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Gastroesoph...	ORPHA:2032
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis...	OMIM:269700
Hutchinson-Gilford Progeria Syndrome	Alopecia, Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart fa...	OMIM:176670
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Neurofibromatosis Type 1	Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Neoplasm of the gastrointestinal tract...	ORPHA:636
Cryptococcosis	Respiratory distress, Osteomyelitis, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
C1Q Deficiency 2	Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R...	OMIM:620321
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Peritonitis, D...	ORPHA:343
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Mucopolysaccharidosis Type 3	Cardiomegaly, Synophrys, Flexion contracture, Atrioventricular block, Coarse hair, Otitis media, ...	ORPHA:581
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm...	ORPHA:562639
Charcot-Marie-Tooth Disease, Axonal, Type 2P	Peripheral axonal degeneration, Foot dorsiflexor weakness, Axonal degeneration, Distal amyotrophy...	OMIM:614436
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectasis, Macroglossia, C...	OMIM:242860
Ciliary Dyskinesia, Primary, 36, X-Linked	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:300991
Lipodystrophy, Familial Partial, Type 7	Lack of facial subcutaneous fat, Vomiting, Sparse hair, Lower limb muscle weakness, Decreased adi...	OMIM:606721
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob...	ORPHA:99889
Alström Syndrome	Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence...	ORPHA:64
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Alopecia, Malabsorption, Abdominal pain, Splen...	ORPHA:100025
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de...	OMIM:265380
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Chronic diarrhea, Lymphoma, Thyroiditis, Nephrot...	ORPHA:39041
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, High, narrow palate, Gastrointestin...	ORPHA:881
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Epistaxis, Anorexia, Malabsorptio...	ORPHA:33226
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Ventricular septal defect, Dextrocardia, Situs...	OMIM:616037
Congenital Gerbode Defect	Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog...	ORPHA:99095
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Cryptorchidism, Heart murmur, Abnormal hea...	ORPHA:1867
Linear Iga Dermatosis	Renal neoplasm, Inflammation of the large intestine, Epistaxis, Bladder neoplasm	ORPHA:46488
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Papilledema, Proteinuria, Bilateral cryptorchidism, Asthma, Obesit...	OMIM:619471
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Polycystic ovaries	ORPHA:2229
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Feeding difficulties in infancy, Synophrys, Abnormal lung ...	OMIM:607872
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97283
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Intestinal perforation, Abnormal lung morphology, Bloody diarrhea, Intracranial hemorrhage, Abnor...	ORPHA:464321
Andersen-Tawil Syndrome	Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil...	ORPHA:37553
Apc-Related Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco...	ORPHA:247806
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Flexion contracture, Premature graying of hair, Gastroesophage...	ORPHA:90324
Leptospirosis	Respiratory distress, First degree atrioventricular block, Anorexia, Uveitis, Cough, Hepatomegaly...	ORPHA:509
Cataract 40	Nuclear cataract, Sutural cataract	OMIM:302200
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Abnormal brainstem MRI signa...	ORPHA:83597
Localized Scleroderma	Skeletal muscle atrophy, Fasciitis, Abnormality of the kidney, Raynaud phenomenon, Vasculitis, Ab...	ORPHA:90289
Immunodeficiency 89 And Autoimmunity	Pulmonary bulla, Pleural thickening, Asthma, Bronchiectasis, Crohn's disease, Recurrent lower res...	OMIM:619632
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory...	OMIM:615505
Neonatal Alloimmune Neutropenia	Jaundice, Pneumonia	ORPHA:464370
Ciliary Dyskinesia, Primary, 12	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:612650
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Atrial septal defect, Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections,...	OMIM:618282
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate...	OMIM:614672
Shwachman-Diamond Syndrome	Abnormality of the gastrointestinal tract, Hepatomegaly, Elevated hepatic transaminase, Sinusitis...	ORPHA:811
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Dilated cardiomyopathy, Myopathy, Seizure, Muscular dyst...	OMIM:602541
Sitosterolemia 2	Tendon xanthomatosis, Premature coronary artery atherosclerosis	OMIM:618666
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Feeding difficulties in infancy, Vomiting, Gastroesophageal reflux, Nausea, Eosinophilic infiltra...	ORPHA:411696
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Congenital finger flexion contractures, Constrictive pericarditis, Wrist flexion contr...	OMIM:208250
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Cerebellar atrophy, Optic disc pallor, Pneumonia, Hepatosplenomegaly, Oligo...	ORPHA:309288
Al Amyloidosis	Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He...	ORPHA:85443
Lissencephaly Due To Lis1 Mutation	Dilation of Virchow-Robin spaces, Cerebellar vermis hypoplasia, Infantile spasms, Focal motor sei...	ORPHA:95232
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Atrial septal d...	ORPHA:1465
Amoebic Keratitis	Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol...	ORPHA:67043
Cataract 24	Anterior polar cataract	OMIM:601202
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Respiratory tract infection, Minimal change glomerulonephritis, Dyspnea, Chro...	ORPHA:567546
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Astrocytoma, Angiofibromas, Subependymal giant-cell astrocytoma, ...	OMIM:613254
Visceral Myopathy 2	Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti...	OMIM:619350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Diarrhea, Recurrent upper respiratory tract infections, High palate, Chronic bronchitis	OMIM:614069
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Chronic bronchitis, Productive cough, Situs inversus totalis, Recu...	OMIM:615451
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Tularemia	Respiratory distress, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis...	ORPHA:3392
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Gastroesophageal reflux, Vomiting, Cough, Hepatomegaly, Tricuspid regurgitation, Atelec...	OMIM:620233
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Mala...	ORPHA:793
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy...	ORPHA:747
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, P...	ORPHA:1272
Netherton Syndrome	Recurrent respiratory infections, Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabso...	ORPHA:634
Immunodeficiency With Hyper-Igm, Type 4	Osteomyelitis, Myelodysplasia, Recurrent upper respiratory tract infections, Bronchiectasis, Recu...	OMIM:608184
Chops Syndrome	High, narrow palate, Synophrys, Coarse hair, Gastroesophageal reflux, Aspiration pneumonia, Vesic...	OMIM:616368
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoplasia of the pons, Hypoplasia of the brainstem, Calf muscle pseudohypertrophy, Abnormal brai...	ORPHA:370959
Ciliary Dyskinesia, Primary, 26	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Absent o...	OMIM:615500
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Recurrent urinary tract infections, Sinusitis, Pneumonia, Splenomegaly, Lymp...	OMIM:613179
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Diaphragmatic eventration, Peripheral axonal neuropathy, Spinal mu...	OMIM:616866
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Poor appetite, Vasculitis, Weight loss, ...	ORPHA:324964
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Werner Syndrome	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:277700
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cerebellar vermis hypoplasia, Apnea, Tachypnea, Abnormal optic disc morphology, Gastroesophageal ...	ORPHA:397715
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Nausea, Poor appetite, Fulminant hepatitis, Jaundice...	OMIM:618549
Tay-Sachs Disease	Cerebellar atrophy, Skeletal muscle atrophy, Abnormal circulating enzyme concentration or activit...	ORPHA:845
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Drug-Induced Lupus Erythematosus	Pericarditis, Pericardial effusion, Dyspnea, Prolonged QTc interval, Hematuria, Malar rash, Seros...	ORPHA:231111
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ...	ORPHA:324
Roifman-Chitayat Syndrome	Pneumonia, Ectopic kidney, Optic atrophy, Arthritis, Generalized myoclonic seizure, Umbilical her...	OMIM:613328
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Chia...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Feeding difficulties in infancy, Nasogastric tube feeding in infancy, Chia...	ORPHA:353277
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi...	OMIM:212112
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Esophageal varix, Hepatosplenome...	OMIM:232500
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Congenital diaphragmatic hernia, Epispadias, Abnormality of the anus, Abnor...	ORPHA:2556
Proximal Spinal Muscular Atrophy	Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua...	ORPHA:70
Hypocalciuric Hypercalcemia, Familial, Type I	Hyperparathyroidism, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Parathyroid adenoma, Pancrea...	OMIM:145980
Primary Erythromelalgia	Recurrent respiratory infections, Leukemia, Vasculitis	ORPHA:90026
Reynolds Syndrome	Hepatomegaly, Skin rash, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice...	ORPHA:779
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Hydrocephalus, Seizure, Neoplasm, Cutaneous melanoma, Neoplasm of the skin, Gen...	ORPHA:626
Inflammatory Bowel Disease 13	Inflammation of the large intestine	OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19	Inflammation of the large intestine	OMIM:612278
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Cryptorchidism, Diarrhea, Patent ductus arteriosus, Abdominal distention, Cholestas...	OMIM:608104
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Protein avoidance, Oroticaciduria...	ORPHA:415
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Zollinger-Ellison syndr...	ORPHA:276152
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Recurrent urinary tract infections, Sinusitis, Pneumonia, Decreased response to growth hormone st...	OMIM:307200
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Ciliary Dyskinesia, Primary, 38	Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect...	OMIM:618063
Mucopolysaccharidosis, Type Vi	Flexion contracture, Hepatomegaly, Tricuspid regurgitation, Cardiomyopathy, Restrictive ventilato...	OMIM:253200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, High, narrow palate, Red-brown urine, Tu...	ORPHA:228308
Adrenocortical Carcinoma	Increased urinary cortisol level, Abdominal pain, Adrenocortical carcinoma, Adrenocorticotropic h...	ORPHA:1501
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr...	OMIM:212140
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Decreased muscle mass, Peripheral axonal ...	OMIM:615490
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Feeding difficulties in infancy, High palate, Atrial septal defe...	ORPHA:2745
Ciliary Dyskinesia, Primary, 32	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Chronic ...	OMIM:616481
Ciliary Dyskinesia, Primary, 35	Neonatal respiratory distress, Abdominal situs ambiguus, Nasal polyposis, Productive cough, Situs...	OMIM:617092
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Abnormality of the spleen, Abnormal lung lobation, Gastroesophag...	ORPHA:2538
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Situs inversus ...	OMIM:613808
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Abdominal pain, Optic atrophy, Re...	ORPHA:2135
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante...	OMIM:604484
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Chronic diarrhea, Sclerosing cholangitis, Es...	OMIM:619652
Cutaneous Small Vessel Vasculitis	Recurrent skin infections, Vasculitis, Skin rash	ORPHA:889
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Hepatomegaly, Skin rash, Pneumonia, Lymphoproliferative diso...	ORPHA:276
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Dilated cardiomyopathy, Respiratory failure, ...	OMIM:607598
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Angiosarcoma, Varicose veins, Aty...	ORPHA:90186
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hepatitis, Hypoglycemic seizures, Adrenocorticotropin defic...	ORPHA:199296
Wild Type Attr Amyloidosis	Myocardial infarction, Gastrointestinal dysmotility, Nephropathy, Orthostatic hypotension due to ...	ORPHA:330001
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Peripheral axonal degeneration, Decreased number of large peripheral myelinat...	OMIM:208920
Ciliary Dyskinesia, Primary, 7	Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric...	OMIM:611884
Ciliary Dyskinesia, Primary, 16	Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Abnormal ciliary motility, Chro...	OMIM:614017
Ciliary Dyskinesia, Primary, 17	Recurrent respiratory infections, Dextrocardia, Dynein arm defect of respiratory motile cilia, Si...	OMIM:614679
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, High...	OMIM:122470
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Splenomegaly,...	OMIM:235255
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Respiratory insufficiency, Hematuri...	ORPHA:375
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Pericardial And Diaphragmatic Defect	Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphrag...	ORPHA:2847
Degcags Syndrome	Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Prematur...	OMIM:619488
H Syndrome	Hernia, Micropenis, Alopecia, Psoriasiform dermatitis, Abnormality of the kidney, Recurrent phary...	ORPHA:168569
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi...	ORPHA:300751
Danon Disease	Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis...	OMIM:612387
Ciliary Dyskinesia, Primary, 13	Absent inner dynein arms, Situs inversus totalis, Absent outer dynein arms, Bronchiectasis, Immot...	OMIM:613193
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Abdominal pain, Splenomegaly...	OMIM:235200
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Immunodeficiency 22	Pericarditis, Diarrhea, Recurrent upper respiratory tract infections, Protracted diarrhea, Capill...	OMIM:615758
Ciliary Dyskinesia, Primary, 22	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Dextrocardia, S...	OMIM:615444
Alport Syndrome	Mesangial hypercellularity, Vomiting, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C...	ORPHA:63
Cowden Syndrome 1	Colonic diverticula, Hyperthyroidism, Subcutaneous lipoma, Dysplastic gangliocytoma of the cerebe...	OMIM:158350
Actinic Prurigo	Cheilitis, Pyoderma, Glomerulonephritis	OMIM:174770
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Nail-Patella Syndrome	Renal insufficiency, Biceps aplasia, Proteinuria, Glomerulonephritis, Absence of pectoralis minor...	OMIM:161200
Yellow Fever	Anuria, Vomiting, Internal hemorrhage, Nausea, Elevated circulating aspartate aminotransferase co...	ORPHA:99829
Familial Adenomatous Polyposis 1	Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroma, Adenomatous colonic polyposis...	OMIM:175100
Gm1 Gangliosidosis Type 1	Diffuse cerebral atrophy, Hepatosplenomegaly, Feeding difficulties, Macroglossia, Cardiomyopathy,...	ORPHA:79255
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:615504
Wiskott-Aldrich Syndrome	Sinusitis, Intracranial hemorrhage, Inflammation of the large intestine, Neoplasm, Conjunctivitis...	ORPHA:906
Johanson-Blizzard Syndrome	Fair hair, Anteriorly placed anus, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, At...	OMIM:243800
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Muscle fiber atrophy, Hepatomegaly, Elevated circulatin...	ORPHA:2388
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Ch...	OMIM:617577
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy...	OMIM:601214
Cog8-Cdg	Elevated hepatic transaminase, Skeletal muscle atrophy, Cerebellar atrophy, Chronic axonal neurop...	ORPHA:95428
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Anhidrosis, Pneumonia, Splenomegaly, Amelogenesis imperfecta, Myopathy, Neoplasm, C...	ORPHA:169090
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Lymphoproliferative disorder, Secundum atrial septal defect, Recurrent...	OMIM:614868
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Protein-losing ente...	ORPHA:731
Ciliary Dyskinesia, Primary, 3	Recurrent respiratory infections, Neonatal respiratory distress, Situs inversus totalis, Bronchie...	OMIM:608644
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Mucoepithelial Dysplasia, Hereditary	Fibrocystic lung disease, Alopecia, Pneumonia, Chronic diarrhea, Recurrent pneumonia, Cor pulmona...	OMIM:158310
Spondylometaphyseal Dysplasia, Sedaghatian Type	Atrial septal defect, Myocarditis, Arrhythmia	OMIM:250220
Acute Liver Failure	Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Vomiting, Nausea, Hyperventil...	ORPHA:90062
Fanconi Anemia, Complementation Group F	Pneumonia, Decreased response to growth hormone stimulation test, Cryptorchidism, Patent ductus a...	OMIM:603467
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Vomiting, Prolonged QTc interval, Mildly reduced left ventri...	ORPHA:66529
Rift Valley Fever	Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, Re...	ORPHA:319251
Tangier Disease	Accelerated atherosclerosis, Peripheral axonal neuropathy, Carotid artery stenosis, Abdominal pai...	ORPHA:31150
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus	Situs inversus totalis, Absent central microtubular pair morphology of respiratory motile cilia, ...	OMIM:620032
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal lu...	ORPHA:264450
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Optic disc pallor, Pancreatic adenocarcinoma, Testicular neoplasm, Hema...	ORPHA:71505
Loeys-Dietz Syndrome 4	Inguinal hernia, Torticollis, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, ...	OMIM:614816
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 25	Cerebellar atrophy, Hypoplasia of the pons, Intraventricular hemorrhage, Cerebral atrophy, Feedin...	OMIM:616430
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Optic neuropathy, Gastrointestinal dysmotility, Axonal degenerati...	ORPHA:478029
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Sinusitis, Pneumonia, Splenomegaly, Bronchiectasi...	OMIM:226990
Marshall-Smith Syndrome	Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Anteriorly placed anus, Glossoptosis, H...	OMIM:602535
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Coronary artery calcification, Myocardial infarction, Cardiomegaly...	OMIM:208000
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy...	ORPHA:913
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Bronchiectas...	OMIM:612649
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Feeding difficulties in infancy, Synophrys, Hypertrophy of the urinary bladder, High palate, Gast...	ORPHA:280633
Immunodeficiency 102	Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Hypothyroidis...	OMIM:301082
Gaucher Disease, Type Ii	Hepatomegaly, Apnea, Cough, Splenomegaly, Cerebral atrophy, Feeding difficulties, Stridor, Seizur...	OMIM:230900
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Sinusitis, Nasal polyposis, Dextrocardia,...	OMIM:606763
Lathosterolosis	Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I...	OMIM:607330
Ciliary Dyskinesia, Primary, 24	Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Bronchiecta...	OMIM:615481
Estrogen Resistance Syndrome	Acne, Abnormality of the pubic hair, Enlarged polycystic ovaries, Elevated tissue non-specific al...	ORPHA:785
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Overweight, Dilat...	ORPHA:401923
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Abnormality of hair texture, Hypoplasia of the pons, Cardiomyopath...	ORPHA:88618
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Seiz...	OMIM:300952
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Hepatomegaly, Skeletal muscle atrophy, Limb joint contracture, Seborrheic der...	OMIM:301072
Lymphoid Interstitial Pneumonia	Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona...	ORPHA:79128
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Villous atrophy, Elevated al...	ORPHA:398063
Gastrocutaneous Syndrome	Synophrys, Coronary artery atherosclerosis, Peptic ulcer, Hiatus hernia	ORPHA:2069
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectas...	ORPHA:1655
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac...	ORPHA:36238
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Cerebral arteriovenous malformation, Pulmonary ar...	OMIM:175050
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Dysphagia, Weight loss, Seizure, Aspiration pneumonia, Cough	ORPHA:216866
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Chronic bronchi...	OMIM:608647
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom...	ORPHA:652
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Skin rash, Recurrent pneumonia, Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorr...	OMIM:617718
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Hypoplasia of the pons, Interstitial emphysema, Bronchiectasis, Dilatation of...	OMIM:619708
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Infantile Neuroaxonal Dystrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar gliosis, Flexion contracture, Optic ...	ORPHA:35069
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Interstitial pneumonitis, ...	OMIM:614878
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte...	ORPHA:1164
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Skeletal muscle atrophy, Limb-girdle muscle weakness, Osteomyelitis leading to amputation due to ...	OMIM:112250
Adrenomyeloneuropathy	Peripheral axonal degeneration, Urinary incontinence, Bowel incontinence, Frontal balding, Atroph...	ORPHA:139399
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy, Nephrocalcino...	OMIM:620152
Juvenile Temporal Arteritis	Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia	ORPHA:26137
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Cerebellar vermis hypoplasia, Hydrocephalus, Myoglob...	ORPHA:157
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Failure to thrive, Diarrhea, Renal cyst, Proximal tubulopathy, Vom...	OMIM:602579
Ciliary Dyskinesia, Primary, 19	Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Absent...	OMIM:614935
Lymphangioleiomyomatosis	Abnormal urinary color, Cough, Emphysema, Ungual fibroma, Renal neoplasm, Abdominal pain, Atelect...	ORPHA:538
Pmm2-Cdg	Respiratory distress, Multiple joint contractures, Cerebellar vermis hypoplasia, Intracranial hem...	ORPHA:79318
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Gastroesophageal reflux, Hepa...	ORPHA:73230
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Myoglobinuria, Rhabdomyolys...	ORPHA:228305
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Mucopolysaccharidosis, Type Vii	Flexion contracture, Coarse hair, Reduced leukocyte beta-glucuronidase activity, Hepatomegaly, Ca...	OMIM:253220
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Recurrent urinary tr...	ORPHA:90349
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Proteinuria, Enlarg...	ORPHA:2298
Orofaciodigital Syndrome Ix	Cleft palate, High palate, Brain atrophy, Camptodactyly, Hamartoma, Recurrent aspiration pneumonia	OMIM:258865
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Cat Eye Syndrome	Biliary atresia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total ano...	OMIM:115470
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Failure to thrive ...	ORPHA:79124
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Premature coronary artery atherosclerosis	OMIM:620058
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Eczema, Feeding difficulties in infancy, Chronic diarrhea, Chronic mucocutaneous candidiasis, Hyp...	ORPHA:98813
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Ga...	ORPHA:95455
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig...	ORPHA:99103
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Abdominal pain, Diar...	ORPHA:2070
Cataract 16, Multiple Types	Posterior polar cataract, Lenticonus, Developmental cataract	OMIM:613763
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin ...	OMIM:102700
Terminal Osseous Dysplasia	Multiple joint contractures, Camptodactyly of finger, Cleft palate, Camptodactyly of toe, Fibroma	OMIM:300244
Abdominal Obesity-Metabolic Syndrome 4	Accelerated atherosclerosis, Myocardial infarction, Obesity, Hypertension, Coronary artery athero...	OMIM:618620
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia	ORPHA:319552
Multiple Endocrine Neoplasia, Type I	Subcutaneous lipoma, Pancreatic islet cell adenoma, Peptic ulcer, Elevated circulating growth hor...	OMIM:131100
Hurler Syndrome	Flexion contracture, Hernia, Endocardial fibroelastosis, Hepatomegaly, Hepatosplenomegaly, Cardio...	OMIM:607014
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Inguinal hernia, Epileptic spasm, Bilateral tonic-clonic seizure, Abnormality of hair texture, Ge...	ORPHA:79351
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Inguinal hernia, Epileptic spasm, Infantile spasms, Cryptorchidism, Cleft palate, Ab...	OMIM:247200
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Skin rash, Maculopapular exanthema, Abdominal...	ORPHA:83313
Congenital Fiber-Type Disproportion Myopathy	Poor appetite, Nasogastric tube feeding in infancy, Flexion contracture, Knee flexion contracture...	ORPHA:2020
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Vomiting, Hepati...	ORPHA:264580
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Hemoglobinuria, Cholelithiasis	OMIM:194380
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Myelodysplasia, Dyspnea, Hepatic necrosis, Premature graying of hair, Interstitial pneu...	OMIM:127550
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Portal hypertension, Seizure, Cirrhosis, Emphysema, Hepatic failure, Cerebral berry aneurysm	OMIM:210050
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Bilateral tonic-clonic seizure, Sudden cardiac death, Pericardial effusion, Congestive heart fail...	ORPHA:73224
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaun...	ORPHA:90790
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Apolipoprotein A-I Deficiency	Atherosclerosis, Angina pectoris, Premature coronary artery atherosclerosis	ORPHA:425
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Gastroesophageal refl...	ORPHA:220386
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Protein-losing enteropathy, Vesicoureteral reflux, Atrial septal...	OMIM:235510
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate...	ORPHA:70588
Hereditary Chronic Pancreatitis	Abnormal circulating enzyme concentration or activity, Abdominal pain, Jaundice, Recurrent pancre...	ORPHA:676
Cleft Velum	Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency, Nasal regurgitation, ...	ORPHA:99772
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Recurrent respiratory infections, Nasal polyposis, Situs inversus totalis, Bronchiectasis, Decrea...	OMIM:620197
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ventilatory...	OMIM:620296
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Syncope, Nail dystrophy, Woolly hair	OMIM:615821
Immunodeficiency 14B, Autosomal Recessive	Chronic diarrhea, Recurrent pneumonia, Inflammation of the large intestine, Colitis, Recurrent si...	OMIM:619281
Cutis Laxa, Autosomal Recessive, Type Ic	Morgagni diaphragmatic hernia, Rectal prolapse, Gastroesophageal reflux, Hypoplasia of the thymus...	OMIM:613177
Immunodeficiency 31C	Hepatomegaly, Villous atrophy, Osteomyelitis, Recurrent respiratory infections, Eczema, Skeletal ...	OMIM:614162
Systemic Lupus Erythematosus	Alopecia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Raynaud phenomenon, Cheilitis...	ORPHA:536
Retinoblastoma	Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Cleft pala...	ORPHA:790
Cystic Fibrosis	Sinusitis, Reduced forced expiratory volume in one second, Rectal prolapse, Abnormality of the li...	ORPHA:586
Cholera	Tachycardia, Abnormality of renal excretion, Achlorhydria, Abdominal pain, Diarrhea, Tachypnea, S...	ORPHA:173
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Diarrhea, Pneumothorax, Chronic pu...	ORPHA:411703
Alpha-Mannosidosis, Infantile Form	Communicating hydrocephalus, Aortic regurgitation, Recurrent urinary tract infections, Cerebellar...	ORPHA:309282
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Cellulitis, Pulmonary hemorrhage	ORPHA:238459
Immunoglobulin A Vasculitis	Episcleritis, Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Skin rash, Protei...	ORPHA:761
Bazex Syndrome	Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Hyperlipoproteinemia, Type I	Nausea, Splenomegaly, Jaundice, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Pancreatitis	OMIM:238600
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Portal hypertension, Cardiomegaly, Abdom...	ORPHA:465508
Sporadic Creutzfeldt-Jakob Disease	Respiratory failure requiring assisted ventilation, Cerebral atrophy, Myoclonus, Neuronal loss in...	ORPHA:204
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat...	ORPHA:980
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Cerebellar atrophy, Renal insufficiency, Hypothyroidism, Pneumotho...	ORPHA:445038
Aorta Coarctation	Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Abdominal pain, Intraventricular hemorrhage, ...	ORPHA:420741
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Chronic otitis media, Emphysema, Chronic sinusiti...	OMIM:604571
Cirrhosis, Familial	Abdominal distention, Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Microno...	OMIM:215600
Angioedema, Hereditary, 1	Peripheral axonal neuropathy, Intestinal edema, Abdominal pain, Diarrhea, Axonal degeneration, Vo...	OMIM:106100
Trichothiodystrophy	Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, Generalized-onset...	ORPHA:33364
Hereditary Hyperekplexia	Hiatus hernia, Seizure, Gastroesophageal reflux, Myoclonus, Hernia, Esophagitis, Umbilical hernia	ORPHA:3197
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra...	OMIM:603909
Ohdo Syndrome, Sbbys Variant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Cleft palate, Feeding difficulties, Hypothyr...	OMIM:603736
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar...	ORPHA:79126
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Recurrent urinary tract infections, Optic...	ORPHA:221139
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Congenital Factor Xiii Deficiency	Epistaxis, Cerebral hemorrhage, Inflammation of the large intestine, Intramuscular hematoma, Myel...	ORPHA:331
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Abdominal pain, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Hurler Syndrome	Hepatomegaly, Recurrent respiratory infections, Angina pectoris, Abnormal heart valve morphology,...	ORPHA:93473
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Ciliary Dyskinesia, Primary, 34	Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Absent central micr...	OMIM:617091
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Abnormal medulla oblongata morphology, Pneumonia, Facial palsy, A...	ORPHA:68
Gastroesophageal Reflux	Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis	OMIM:109350
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Hypopigmentation of hair, Epistaxis, Albinism, Abdominal pain, Hematochezia,...	OMIM:203300
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Pulmonary embolism, Abnormal left ventricular function, Right ventricular dilatati...	ORPHA:70591
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Thoracic aortic aneurysm, Bicuspid aortic valve, Fusiform ascending tubular...	OMIM:617168
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to grow...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Generalized-onset seizure, Bicuspid aortic valve, Decreased response to grow...	ORPHA:363958
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Gastroesophageal reflux, High palate, Vomiting, Cough, Emphysema, Hepatic steatosis, P...	OMIM:613658
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Optic atrophy, Aspiration pneumonia, Dysphagia, Global brain atrophy	ORPHA:52368
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, Pneumonia, Splenomegaly, Chronic diarrhea, Recurrent upper r...	OMIM:602450
Kabuki Syndrome 1	Feeding difficulties in infancy, High palate, Atrial septal defect, Micropenis, Recurrent aspirat...	OMIM:147920
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, High palate, Atrial septal defect, Subcutaneous neurofibroma, Patent foramen ovale, Sp...	ORPHA:363700
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin...	OMIM:600376
Amyotrophic Lateral Sclerosis 4, Juvenile	Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler...	OMIM:602433
Toriello-Carey Syndrome	Neonatal respiratory distress, Aganglionic megacolon, Sparse eyebrow, Cryptorchidism, Patent duct...	ORPHA:3338
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopathy, Ven...	OMIM:605676
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Failure to thrive in infancy, Chronic diarrhea, Recurrent pneumonia, Bronchie...	OMIM:301220
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Duplicated collecting system, Cholestasis, Hepatosplenomegaly, Fee...	ORPHA:541423
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Renal cyst, Gastroesophageal reflux, Vomiting, Micropenis, Pelvic kidney, Hypospadias, Cryptorchi...	ORPHA:464311
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Apolipoprotein C-Ii Deficiency	Splenomegaly, Hepatomegaly, Pancreatitis	OMIM:207750
Sarcoidosis, Susceptibility To, 1	Anorexia, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abnormal salivary gland...	OMIM:181000
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Constipation, Or...	ORPHA:43393
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Patent ductu...	OMIM:612562
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Seizure, Pneumonia	OMIM:608033
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, Recurrent pneumoni...	OMIM:300472
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Recurrent urinary tract infections, Dysuria, Malabsor...	ORPHA:3463
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Inflammatory Bowel Disease 11	Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine	OMIM:191390
Aortic Aneurysm, Familial Thoracic 6	Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis...	OMIM:611788
Immunodeficiency 12	Skin rash, Esophageal stricture, Cheilitis, Bronchiectasis, Recurrent aphthous stomatitis, Decrea...	OMIM:615468
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles...	OMIM:233450
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p...	ORPHA:220460
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Chronic pancreatitis, Cryptorchidism, Myop...	OMIM:307030
Buerger Disease	Vasculitis, Hyperhidrosis	ORPHA:36258
Mucopolysaccharidosis Type 2	Communicating hydrocephalus, Abnormal tricuspid valve morphology, Hepatomegaly, Papilledema, Chro...	ORPHA:580
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Sinusitis, Glioma, Recurrent bronchitis, Rhabdomyosar...	OMIM:251260
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Cachexia, Abdominal pain, High, narrow palate, Rectal prolapse, Aden...	ORPHA:79076
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Abnormal cerebral vascular mor...	ORPHA:904
Esophagitis, Eosinophilic, 2	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:613412
Esophagitis, Eosinophilic, 1	Failure to thrive, Vomiting, Esophagitis, Dysphagia	OMIM:610247
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Synophrys, Hypoplasia o...	OMIM:612289
Cahmr Syndrome	Lamellar cataract	OMIM:211770
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Apnea, Gastroesophageal reflux, Aspiration pneumonia, Atrial septal defect...	ORPHA:438213
Combined Oxidative Phosphorylation Deficiency 29	Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Feeding difficulties, S...	OMIM:616811
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal urinary color, Abdominal pain, Abnormal gastric mucosa morphology, Jaundic...	ORPHA:234
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea, Vasculitis, Skin rash	OMIM:601979
Ciliary Dyskinesia, Primary, 43	Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, No...	OMIM:618699
Plague	Respiratory distress, Chapped lip, Anorexia, Lymphadenitis, Bloody diarrhea, Acute infectious pne...	ORPHA:707
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Hypopigmentation of hair, Epistaxis, Abnormal d...	ORPHA:79430
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Chronic diarrhea...	OMIM:242700
Adult-Onset Autosomal Dominant Leukodystrophy	Anhidrosis, Orthostatic hypotension, Recurrent urinary tract infections, Abnormal cerebellar pedu...	ORPHA:99027
Ciliary Dyskinesia, Primary, 20	Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,...	OMIM:615067
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Intestinal obstruction, Pneumonia, Chronic diarrhea, Recurrent upper respiratory tract infections...	OMIM:600802
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Hyperhidrosis, Premature graying ...	OMIM:305000
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Omenn Syndrome	Hepatomegaly, Alopecia, Pneumonia, Splenomegaly, Diarrhea, Hypoplasia of the thymus, Erythroderma...	OMIM:603554
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Skin rash, Failure to thrive in infancy, Lipodystrophy, Abdominal pain, Diarrhea, Chronic diarrhe...	OMIM:617099
9Q33.3Q34.11 Microdeletion Syndrome	Epistaxis, Abnormality of the kidney, Highly arched eyebrow, Abnormal hair pattern, Cryptorchidis...	ORPHA:495818
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Decreased muscle mass, Small for gestational age, Decreased response to growth hormone stimulatio...	ORPHA:96182
Bloom Syndrome	Small for gestational age, Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections...	OMIM:210900
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Synophrys, Glossoptosis, High palate, Gast...	ORPHA:444077
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectase...	ORPHA:576
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Eczema, Camptodactyly of finger, Erythema nodosum, Synovi...	OMIM:186580
Good Syndrome	Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i...	ORPHA:169105
Mercury Poisoning	Respiratory distress, Tachycardia, Anorexia, Dyspnea, Episodic abdominal pain, Hypertension, Inte...	ORPHA:330021
Simpson-Golabi-Behmel Syndrome, Type 1	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst...	OMIM:312870
Congenital Tracheal Stenosis	Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio...	ORPHA:141127
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Recurrent respiratory infections, Lymphadenitis, Recurrent pneumonia, Chronic pulmonary obstructi...	OMIM:618986
Sitosterolemia 1	Carotid artery stenosis, Abdominal pain, Splenomegaly, Arthritis, Increased circulating lactate d...	OMIM:210250
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Chronic diarrhea, Peripher...	ORPHA:217085
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Hypospadias, Bilateral tonic-clonic seizure, Feeding difficulties, Gastroesophageal reflux, Esoph...	ORPHA:79350
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, ...	ORPHA:373
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa...	OMIM:610168
X-Linked Dystonia-Parkinsonism	Impaired oropharyngeal swallow response, Myoclonus, Aspiration pneumonia, Protruding tongue	ORPHA:53351
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegal...	OMIM:135500
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Papilledema, Chronic diarrhea, Peripher...	ORPHA:217093
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,...	OMIM:130650
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Inguinal hernia, Unilateral renal agenesis, Congestive heart failure, Dilat...	ORPHA:90348
Kindler Epidermolysis Bullosa	Urethral stricture, Recurrent skin infections, Abnormal dental enamel morphology, Camptodactyly o...	ORPHA:2908
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Neoplasm, High p...	ORPHA:480880
Ataxia-Telangiectasia	Conjunctival telangiectasia, Sinusitis, Abnormal hair morphology, Chronic diarrhea, Lymphoma, Bro...	OMIM:208900
Wiskott-Aldrich Syndrome	Lymphoproliferative disorder, Eczema, Epistaxis, Hematemesis, Diarrhea, Recurrent pneumonia, Chro...	OMIM:301000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Generalized-onset seizure, Feeding difficulties in infancy, Gastrointes...	ORPHA:500150
Tick-Borne Encephalitis	Elevated hepatic transaminase, Skeletal muscle atrophy, Generalized-onset seizure, Abnormal medul...	ORPHA:297
Loeys-Dietz Syndrome 1	Atrial septal defect, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial...	OMIM:609192
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Lymphoproliferative disorder, Abdominal pain, Abnormal gastr...	ORPHA:263665
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	High palate, Atrial septal defect, Tricuspid regurgitation, Scarring, Hiatus hernia, Cryptorchidi...	OMIM:601776
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo...	ORPHA:699
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Hodgkin lymphoma, Fee...	ORPHA:2896
Neuroleptic Malignant Syndrome	Urinary incontinence, Pulmonary embolism, Hyperhidrosis, Vomiting, Aspiration pneumonia, Nausea, ...	ORPHA:94093
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Portal hypertension, Cryptorchidism, Premature graying of hair, Squamous cell car...	OMIM:620365
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Cerebral atrophy, Feeding diffic...	OMIM:615356
Chronic Graft Versus Host Disease	Fasciitis, Anorexia, Flexion contracture, Xerostomia, Gastroesophageal reflux, Cough, Nausea, Alo...	ORPHA:99921
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Arboleda-Tham Syndrome	Respiratory distress, Bilateral cryptorchidism, Secundum atrial septal defect, Conjunctivitis, Ga...	OMIM:616268
Sandifer Syndrome	Torticollis, Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagit...	ORPHA:71272
Rheumatoid Arthritis	Digital flexor tenosynovitis, Vasculitis, Rheumatoid arthritis, Weight loss	OMIM:180300
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Proteinuria, Abnormal cerebellum morphology, Cerebral artery atherosclerosis, Renal artery stenos...	OMIM:209010
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Small intestinal dysmotility, Apnea, Urinary incontinence, Sinus bradycardia, Hy...	OMIM:619482
Dermatosparaxis Ehlers-Danlos Syndrome	Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarring, Hiatus hernia,...	ORPHA:1901
Doors Syndrome	Respiratory distress, Adrenal hyperplasia, Low anterior hairline, Nephrocalcinosis, High palate, ...	ORPHA:79500
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Facial palsy, Respira...	ORPHA:79138
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, Generalized amyotro...	OMIM:264090
Lafora Disease	Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Atonic seizure, ...	ORPHA:501
Autoimmune Lymphoproliferative Syndrome	Splenomegaly, Hepatomegaly, Vasculitis	OMIM:601859
Acute Radiation Syndrome	Inflammatory abnormality of the skin, Diarrhea, Telangiectasia, Seizure, Interstitial pneumonitis...	ORPHA:454831
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Ayme-Gripp Syndrome	Sparse scalp hair, Pericarditis, Cerebral atrophy, Chiari type I malformation, Seizure, Nail dyst...	OMIM:601088
Geleophysic Dysplasia 3	Hepatomegaly, Pneumonia, Dyspnea, Mitral regurgitation, Respiratory failure	OMIM:617809
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Transient ischemic attack, Urinary incontinence, Bowel incontinence, Carotid artery ste...	OMIM:600142
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Macular scar, Vasculitis, Tubulointerstitial nephritis...	ORPHA:279914
Spondyloenchondrodysplasia With Immune Dysregulation	Recurrent respiratory infections, Pneumonia, Raynaud phenomenon, Hypothyroidism, Restrictive vent...	OMIM:607944
Dyskeratosis Congenita, Autosomal Recessive 8	Cerebellar atrophy, Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the larg...	OMIM:620133
Neonatal Marfan Syndrome	Neonatal respiratory distress, Tricuspid regurgitation, Small for gestational age, Lipoatrophy, H...	ORPHA:284979
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function	OMIM:619492
Agammaglobulinemia 1, Autosomal Recessive	Recurrent respiratory infections, Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Conjunct...	OMIM:601495
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Psoriasiform dermatitis, Alopecia, Decreased response to gr...	ORPHA:293978
Marfan Syndrome	Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arthritis, Spontaneous pneumothor...	ORPHA:558
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, High pala...	OMIM:613795
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Kanzaki Disease	Telangiectasia of the oral mucosa, Peripheral axonal neuropathy, Increased urinary O-linked sialo...	OMIM:609242
Multiple Osteochondromas	Osteochondroma, Chondrosarcoma, Intestinal obstruction, Pseudoaneurysm, Peripheral nerve compress...	ORPHA:321
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Basal Cell Nevus Syndrome 2	Angiofibromas, Hydrocephalus, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Spondyloarthropathy, Susceptibility To, 1	Aortic regurgitation, Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Infl...	OMIM:106300
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Congestive heart failure, Dyspn...	OMIM:123700
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Angina pectoris, Premature coronary artery atherosclerosis	ORPHA:140905
Wells Syndrome	Vasculitis, Cellulitis	ORPHA:901
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Interstitial pneumonitis	ORPHA:231154
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Emphysema, Repeated pneumothoraces, Cryptorchid...	OMIM:130050
Cogan Syndrome	Episcleritis, Aortic regurgitation, Keratitis, Vasculitis, Uveitis, Large vessel vasculitis, Scle...	ORPHA:1467
Retinoblastoma	Lymphoma, Cleft palate, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, ...	OMIM:180200
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis	ORPHA:209959
Keutel Syndrome	Sinusitis, Ventricular septal defect, Recurrent bronchitis, Hypertension, Pulmonary artery hypopl...	OMIM:245150
Hughes-Stovin Syndrome	Nausea and vomiting, Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespirator...	ORPHA:228116
Hypercholesterolemia, Familial, 1	Tendon xanthomatosis, Coronary artery atherosclerosis	OMIM:143890
Hereditary Sensory And Autonomic Neuropathy Type 4	Anhidrosis, Fasciitis, Osteomyelitis, Chronic kidney disease, Corneal scarring, Hyperhidrosis, At...	ORPHA:642
Fraser Syndrome 1	Abnormal small intestine morphology, Absent eyebrow, Hypospadias, Renal hypoplasia/aplasia, Absen...	OMIM:219000
Yunis-Varon Syndrome	Cerebellar vermis hypoplasia, High palate, Aspiration pneumonia, Micropenis, Patent foramen ovale...	OMIM:216340
Hypercholesterolemia, Familial, 2	Coronary artery atherosclerosis	OMIM:144010

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lpo

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lpo.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
The potential for repositioning antithyroid agents as antiasthma drugs.	The Journal of allergy and clinical immunology (June 2016)	Lpo^{tm1a(EUCOMM)Wtsi} Lpo^{tm1b(EUCOMM)Wtsi}	27444178

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Lpo^{tm66(L1L2_gt1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lpo^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Lpo^{tm66(L1L2_st1)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Lpo^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Lpo MGI:1923363

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Electrocardiogram (ECG)

X-ray

Human diseases caused by Lpo mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data