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Gene: Chd2 MGI:2448567

Gene Summary

Name:

chromodomain helicase DNA binding protein 2

Synonyms:

2810013C04Rik, 2810040A01Rik, 5630401D06Rik

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	Allele	Zyg	Life Stage	P Value
increased grip strength	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.14×10^-12
short tibia	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.93×10^-11
abnormal bone structure	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.86×10^-06
decreased bone mineral density	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.94×10^-05
decreased erythrocyte cell number	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.50×10^-05
decreased prepulse inhibition	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.86×10^-05
increased circulating alanine transaminase level	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.49×10^-06
decreased body length	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.17×10^-06
increased circulating aspartate transaminase level	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.19×10^-08
decreased mean platelet volume	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.47×10^-06
decreased hemoglobin content	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.56×10^-05
decreased bone mineral content	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.58×10^-06
abnormal sinus arrhythmia	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.07×10^-08

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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.

Electrocardiogram (ECG)

Waveform Image

1 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

2 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Histopathology

Images

2 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Human diseases caused by Chd2 mutations

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

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

Human diseases associated with Chd2 (3 diseases)
Human diseases predicted to be associated with Chd2 (2507 diseases)

The table below shows human diseases associated to Chd2 by orthology or direct annotation.

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

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

Disease	Matching phenotypes	Source
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insu...	ORPHA:139402
Brucellosis	Bronchitis, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Dep...	ORPHA:1304
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Q Fever	Elevated circulating hepatic transaminase concentration, Granuloma, Pericarditis, Splenomegaly, C...	ORPHA:781
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Skin rash, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Dysp...	ORPHA:809
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Hematuria, Lymphadenopathy, Renal insufficiency, Recurrent p...	ORPHA:549
Peripartum Cardiomyopathy	Left atrial enlargement, Exertional dyspnea, Sinus tachycardia, Hypertension, Left ventricular hy...	ORPHA:563
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Enlarged kidney, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Systemic Capillary Leak Syndrome	Myocarditis, Pulmonary edema, Pancreatitis, Pleural effusion, Hypotension, Leukocytosis, Multiple...	ORPHA:188
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Failure to th...	OMIM:618495
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Cardiomyopathy, Cholestasis, Leukopenia, Neutropenia, ...	ORPHA:292
Scrub Typhus	Myocarditis, Abnormal bleeding, Lymphadenopathy, Skin rash, Dyspnea, Hypotension, Splenomegaly, A...	ORPHA:83317
Liver Disease, Severe Congenital	Left atrial enlargement, Nail dystrophy, Elevated circulating hepatic transaminase concentration,...	OMIM:619991
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Periorbital edema, Skin ras...	ORPHA:3386
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Pericarditis, Lymphocytoma cut...	ORPHA:449395
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Myocardial infarction, Mediastinal lymphadenopathy, Hep...	ORPHA:3452
Fibular Hemimelia	Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog...	ORPHA:93323
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Cachexia, Splenomegaly, ...	ORPHA:37042
Listeriosis	Pericarditis, Pustule, Cholecystitis, Granulomatosis, Myocarditis, Acute kidney injury, Jaundice,...	ORPHA:533
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Pancreatitis, Hepatomegaly, Ane...	OMIM:606054
Primary Sjögren Syndrome	Normochromic anemia, Optic neuritis, Bronchitis, Biliary cirrhosis, Leukopenia, Lymphopenia, Eryt...	ORPHA:289390
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Stroke, Respiratory tract i...	ORPHA:444463
Bacterial Toxic-Shock Syndrome	Skin rash, Sinusitis, Edema, Cellulitis, Myocarditis, Increased circulating myelocyte count, Sept...	ORPHA:36234
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Premature graying of hair, Cirrhosis, Nail dystrophy, Anemia, Increased mean cor...	OMIM:127550
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal aortic arch morphology, Abnormal...	ORPHA:860
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Seborrheic dermatitis, Biliary hyperplasia, Contracture of the distal interphalangeal joint of th...	ORPHA:83617
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Vasculitis in the skin, Splenomegaly, Recurrent upper r...	OMIM:620296
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Eosinophilic Granulomatosis With Polyangiitis	Skin rash, Hypertension, Sinusitis, Myocarditis, Vasculitis, Transient ischemic attack, Weight lo...	ORPHA:183
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Normochromic anemia, Homocystinuria, Inguinal hernia, Pul...	OMIM:614857
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Delayed puberty, Recurrent lower respiratory tract infections, Neutr...	OMIM:615952
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh...	OMIM:118651
Immunodeficiency 40	Chronic oral candidiasis, Recurrent otitis media, Macrovesicular hepatic steatosis, Hepatomegaly,...	OMIM:616433
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Mediastinal lymphadenopathy, Dyspnea, Abnormal proportion of CD4-po...	ORPHA:133
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Pancreatitis, Anemia, Respiratory distress, Stroke, Cardiomyopathy, Dehydration, Fa...	ORPHA:79312
Lujo Hemorrhagic Fever	Elevated circulating hepatic transaminase concentration, Bradycardia, Skin rash, Increased circul...	ORPHA:319213
Shigellosis	Cholestasis, Myocarditis, Acute kidney injury, Hemolytic-uremic syndrome, Splenic abscess, Conjun...	ORPHA:810
Microsporidiosis	Cachexia, Bronchitis, Sinusitis, Biliary tract abnormality, Myocarditis, Cholangitis, Thyroiditis...	ORPHA:2552
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Petechiae...	ORPHA:824
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Failure to thrive, Thrombocytopenia, Splenomegaly, Leukope...	OMIM:615285
Microphthalmia, Syndromic 12	Microphthalmia, Anophthalmia, Hypoplastic left atrium, Neonatal death, Ventricular septal defect	OMIM:615524
Sting-Associated Vasculopathy, Infantile-Onset	Nail dystrophy, Anemia, Malar rash, Myositis, Skin rash, Pustular rash, Tachypnea, Failure to thr...	OMIM:615934
Syndactyly Type 4	Triphalangeal thumb, 6 metacarpals, Limitation of joint mobility, 1-5 finger syndactyly, Foot pol...	ORPHA:93405
Kikuchi-Fujimoto Disease	Palpebral edema, Elevated circulating hepatic transaminase concentration, Lymphocytosis, Skin ras...	ORPHA:50918
Pneumocystosis	Chronic oral candidiasis, Exertional dyspnea, Abnormal neutrophil count, Acute infectious pneumon...	ORPHA:723
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Ethylmalonic aciduria, Failure to thrive, Increased level o...	ORPHA:26792
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Jaundice, Patent ...	ORPHA:26793
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat...	OMIM:200700
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin	ORPHA:231249
Malignant Atrophic Papulosis	Ischemic stroke, Gastrointestinal hemorrhage, Arteritis, Pleural effusion, Abnormal pericardium m...	ORPHA:679
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Zygomycosis	Hematemesis, Gastrointestinal hemorrhage, Acute infectious pneumonia, Retinal arterial occlusion,...	ORPHA:73263
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Respiratory distress, Ragg...	OMIM:613561
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Immune-Mediated Necrotizing Myopathy	Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Skin...	ORPHA:206569
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Congenital Syphilis	Myocarditis, Purpura, Hydrops fetalis, Pancreatitis, Anemia, Lymphadenopathy, Petechiae, Synoviti...	ORPHA:499009
Immunodeficiency 59 And Hypoglycemia	High anterior hairline, Hepatomegaly, Recurrent aphthous stomatitis, Arteritis, Decreased proport...	OMIM:233600
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Exercise-induced myoglobinuria, Hepatomegaly, Reduced left ventricular eje...	OMIM:201475
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hypertriglyceridemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Folliculitis...	OMIM:300635
Coronary Arterial Fistula	Exertional dyspnea, Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Card...	ORPHA:2041
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia...	OMIM:610913
Sandhoff Disease	Congestive heart failure, Hepatomegaly, Kyphosis, Failure to thrive, Splenomegaly, Cherry red spo...	ORPHA:796
Avian Influenza	Pneumothorax, Congestive heart failure, Acute kidney injury, Elevated circulating hepatic transam...	ORPHA:454836
Acute Interstitial Pneumonia	Peripheral edema, Reduced hematocrit, Atelectasis, Lymphadenopathy, Hypertension, Pleural effusio...	ORPHA:79126
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa...	ORPHA:231226
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Hypertriglyceridemia, Delayed puberty, Hyperlipidemia, Splenomegaly, Ne...	ORPHA:77293
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Recurrent pharyngitis, Arthritis, Abnormal heart v...	ORPHA:3099
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:231154
Crimean-Congo Hemorrhagic Fever	Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Ascites, Increased circulating lac...	ORPHA:99827
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e...	ORPHA:36238
Carcinoid Syndrome	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, T...	ORPHA:100093
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Erythroid hyperplasia, Decreased liver function, Hematuria, Anemia, Increased mean corpuscular vo...	OMIM:617021
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
X-Linked Agammaglobulinemia	Chronic otitis media, Skin rash, Sinusitis, Neoplasm, Recurrent cutaneous abscess formation, Cell...	ORPHA:47
Alpha-Thalassemia	Anisopoikilocytosis, Congestive heart failure, Hemoglobin Barts, Jaundice, Anemia, Hydrops fetali...	ORPHA:846
Wild Type Attr Amyloidosis	Bradycardia, Aortic valve stenosis, Orthostatic hypotension due to autonomic dysfunction, Spinal ...	ORPHA:330001
Rat-Bite Fever	Morbilliform rash, Myocarditis, Abdominal aseptic abscess, Pancreatitis, Anemia, Arthritis, Skin ...	ORPHA:31205
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Peripheral edema, Pulmonary edema, Hepatomegaly, Postnatal growth retard...	ORPHA:75249
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin	ORPHA:3319
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia, Epistaxis	OMIM:273900
Congenital Bile Acid Synthesis Defect Type 2	Prolonged prothrombin time, Postnatal growth retardation, Steatorrhea, Giant cell hepatitis, Jaun...	ORPHA:79303
Osebold-Remondini Syndrome	Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra...	OMIM:112910
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Dicarboxylic aciduria, Hepatomegaly, Respiratory distress, Microvesicul...	OMIM:212140
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Abnormal jugular vein morphology, Angina pectoris, Arthritis,...	ORPHA:464343
3-Hydroxy-3-Methylglutaric Aciduria	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Leukopenia, ...	ORPHA:20
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol...	OMIM:617718
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Arthritis, Cardiomyopathy, Splenomegaly, Arrhy...	OMIM:602390
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Abnormal lymph node morphology, Anemia, Petechiae, Leukocytosis,...	OMIM:612840
Rigid Spine Syndrome	Spinal rigidity, Scoliosis, Hyperlordosis, Elbow flexion contracture, Hamstring contractures, Hip...	ORPHA:97244
Felty Syndrome	Chronic otitis media, Sinusitis, Pericarditis, Bone marrow hypocellularity, Splenomegaly, Celluli...	ORPHA:47612
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Arthritis, Dyspnea, Crescentic glomerulonephritis, He...	OMIM:616414
Immunodeficiency 104	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Antisynthetase Syndrome	Myocarditis, Abnormal pulmonary interstitial morphology, Aortic regurgitation, Myositis, Arthriti...	ORPHA:81
Kawasaki Disease	Cheilitis, Skin rash, Pericarditis, Edema, Cholecystitis, Myocarditis, Jaundice, Vasculitis, Asce...	ORPHA:2331
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo...	OMIM:201250
Extracranial Carotid Artery Aneurysm	Arteritis, Arteriosclerosis, Abnormality of connective tissue, Vasculitis, Stroke, Hypertension, ...	ORPHA:494424
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge...	OMIM:313900
Systemic Sclerosis	Nail bed telangiectasia, Pericarditis, Intestinal bleeding, Telangiectasia, Myocarditis, Acute ki...	ORPHA:90291
Myosclerosis, Autosomal Recessive	Spinal rigidity, Short stature, Thoracolumbar scoliosis, Achilles tendon contracture, Neck joint ...	OMIM:255600
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Acromesomelic Dysplasia, Grebe Type	Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl...	ORPHA:2098
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Postnatal growth retardation, Vascular dilatation, Hypertension, Pulmonary arterial hypertension,...	OMIM:613320
Bile Acid Synthesis Defect, Congenital, 3	Prolonged prothrombin time, Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated...	OMIM:613812
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Hypertension, Cardiomyopathy, Upper limb muscle weakness, Multiple rena...	ORPHA:892
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,...	OMIM:127300
Multiple Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Elevated circulating hepatic transaminase concentration, Hyperlordosis,...	ORPHA:26791
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Scoliosis, Hyperlordosis, Rimmed vacuoles, Kyphosis, Increased variability in mu...	OMIM:300718
Thrombocytopenia 10	Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:620484
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Inflammatory myopathy, Skin rash, Sinus ...	ORPHA:221
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory distress, Paraseptal emphyse...	OMIM:610921
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Relapsing Polychondritis	Inflammatory abnormality of the eye, Pericarditis, Myocarditis, Recurrent aphthous stomatitis, Dy...	ORPHA:728
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Congenital foot contractures, Scoliosis, Short stature, Hip contracture, Knee flexion contracture...	OMIM:602484
Beta-Thalassemia Intermedia	Decreased liver function, Proximal tubulopathy, Anemia of inadequate production, Splenomegaly, De...	ORPHA:231222
Léri-Weill Dyschondrosteosis	Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Joint stiffness, Mesomeli...	ORPHA:240
Holocarboxylase Synthetase Deficiency	Perioral eczema, Respiratory distress, Organic aciduria, Keratoconjunctivitis, Eczematoid dermati...	ORPHA:79242
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h...	OMIM:115197
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Prolonged prothrombin time, Dicarboxylic aciduri...	ORPHA:71212
Preeclampsia	Acute kidney injury, Pulmonary edema, Elevated circulating hepatic transaminase concentration, El...	ORPHA:275555
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Recurrent otitis media, Mediastinal lymphadenopathy, ...	OMIM:620233
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Failure to thr...	OMIM:263000
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy, Abnormal cardiovascular system physiology, Respiratory distress, P...	ORPHA:50251
Mantle Cell Lymphoma	B-cell lymphoma, Splenomegaly, Lymphadenopathy, Weight loss	ORPHA:52416
Pauci-Immune Glomerulonephritis	Small vessel vasculitis, Scleritis, Acute kidney injury, Abnormality of the pulmonary vasculature...	ORPHA:93126
Arterial Tortuosity Syndrome	Abnormal carotid artery morphology, Hypertension, Myocarditis, Inguinal hernia, Scoliosis, Dyspne...	ORPHA:3342
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Lethal Faciocardiomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga...	ORPHA:1972
Acromesomelic Dysplasia, Maroteaux Type	Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,...	ORPHA:40
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Large for gestational age, Hydrops fe...	ORPHA:45452
Recurrent Respiratory Papillomatosis	Atelectasis, Squamous cell carcinoma, Respiratory distress, Dyspnea, Failure to thrive, Abnormal ...	ORPHA:60032
Aspergillosis	Hypersensitivity pneumonitis, Abnormality of the vertebral column, Pleuritis, Stroke, Pleural eff...	ORPHA:1163
Ghosal Hematodiaphyseal Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal c...	ORPHA:1802
Dietary Iron Overload Disease	Congestive heart failure, Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, H...	ORPHA:139507
Congenital Myopathy 2A, Typical, Autosomal Dominant	Spinal rigidity, Polyhydramnios, Scoliosis, Hyperlordosis, Facial palsy, EMG: myopathic abnormali...	OMIM:161800
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Respiratory distress, Hypertrophic cardiomyopathy, Tachypnea, Dilated cardiomyopath...	OMIM:614299
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ...	OMIM:607778
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Myocardial eosinophilic...	ORPHA:3260
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Decreased response to growth hormone stimulation test, Respiratory distress, Failure to thrive, S...	OMIM:245590
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Anemia, Coronary artery atherosclerosis, Hypertension, Hyperlordosis, Cryptorchidism, Nephrotic s...	ORPHA:1192
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Schimke Immuno-Osseous Dysplasia	Hypertension, Arteriosclerosis of small cerebral arteries, Cerebral ischemia, Hyperlipidemia, Bon...	ORPHA:1830
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Spinal rigidity, Scoliosis, Increased adipose tissue, Hyperlordosis, Kyphosis, Short stature	OMIM:617404
Vexas Syndrome	Nasal chondritis, Arteritis, Macrocytic anemia, Arthritis, Inflammatory abnormality of the skin, ...	OMIM:301054
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Pulmonary Blastoma	Recurrent pneumonia, Pleuropulmonary blastoma, Weight loss, Dyspnea	ORPHA:64741
Storage Pool Platelet Disease	Acute leukemia, Decreased mean platelet volume	OMIM:185050
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Arthritis, H...	ORPHA:465508
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Gm1 Gangliosidosis	Abnormal form of the vertebral bodies, Hyperlordosis, Cardiomyopathy, Kyphosis, Abnormal heart mo...	ORPHA:354
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Ventricula...	OMIM:618278
Acute Radiation Syndrome	Abnormal bleeding, Hypotension, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopen...	ORPHA:454831
Hardikar Syndrome	Hematemesis, Decreased liver function, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Hepa...	ORPHA:732
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Neoplasm of the tongue, Neoplasm of the skin, Reticulocytosis, Bone marrow hypocel...	ORPHA:3261
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Exertional dyspnea, Third heart sound, Left ventricular hypertrophy, Rig...	ORPHA:99106
Cirrhotic Cardiomyopathy	Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent...	ORPHA:57777
Double Outlet Right Ventricle	Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymu...	ORPHA:3426
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Increased vertebral height, Pancytopenia, Thoracic kyphoscoliosis, Portal hypertens...	OMIM:613385
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Dicarboxylic aciduria, Myoglobinuria, Hypertroph...	OMIM:231530
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Respiratory distress, Acute pancreatitis, Dyspnea, Pn...	ORPHA:178320
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Decreased liver function, Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic trans...	ORPHA:42
Cardiocranial Syndrome, Pfeiffer Type	Hypospadias, Plantar flexion contracture, Torticollis, Abnormal hair whorl, Short stature, Growth...	ORPHA:2872
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal pulmonary interstitial morphology, Skin rash,...	ORPHA:99745
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Decreased proportion of class-switched memory B cells, Bronchiolitis, Enterocolitis, Cellulitis, ...	OMIM:614878
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Lipodystrophy, Congenital Generalized, Type 4	Hypertriglyceridemia, Spinal rigidity, Prolonged QT interval, Elevated circulating hepatic transa...	OMIM:613327
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal hem...	ORPHA:848
Eiken Syndrome	Abnormal bone ossification, Fibular hypoplasia, Delayed epiphyseal ossification, Abnormal acetabu...	ORPHA:79106
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal vertebral morphology, Abnormal heart valve morphology, Abnormality of the ...	ORPHA:93476
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R...	OMIM:249700
Myopathy, Distal, 1	Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an...	OMIM:160500
Congenital Disorder Of Glycosylation, Type It	Prolonged prothrombin time, Delayed puberty, Elevated circulating hepatic transaminase concentrat...	OMIM:614921
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Myocarditis, Odontoma, Atherosclerosis, Hepatic failure	ORPHA:2724
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary arterial hyperte...	OMIM:619064
Mucolipidosis Type Iii	Abnormal aortic valve morphology, Inguinal hernia, Abnormal form of the vertebral bodies, Abnorma...	ORPHA:577
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Intrahepatic ...	OMIM:208085
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Hemochromatosis, Neonatal	Cirrhosis, Abnormal bleeding, Cholestasis, Hepatocellular necrosis, Prolonged neonatal jaundice, ...	OMIM:231100
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Hydrops fetalis, Vacuolated lymphocytes, Ascites, Nephrot...	OMIM:269920
Brachytelephalangic Chondrodysplasia Punctata	Butterfly vertebrae, Cervical spinal canal stenosis, Proportionate short stature, Pulmonary arter...	ORPHA:79345
Interstitial Lung Disease 1	Intralobular septal thickening, Nonspecific interstitial pneumonia, Dyspnea, Elevated bronchoalve...	OMIM:619611
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Spondylolysis, Spondylolisthesis at L5-S1, Short stature, Atlantoaxial instability, Atlantoaxial ...	OMIM:600561
Hepatitis Delta	Cirrhosis, Jaundice, Abnormal bleeding, Fulminant hepatitis, Hepatocellular carcinoma, Elevated c...	ORPHA:402823
Griscelli Syndrome	Premature graying of hair, Jaundice, Hepatomegaly, Lymphadenopathy, Silver-gray hair, Abnormal ey...	ORPHA:381
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Thoracic kyphosis, Elbow flexion contracture, ...	ORPHA:206546
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr...	ORPHA:63273
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai...	OMIM:301000
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase conce...	ORPHA:2137
Autosomal Agammaglobulinemia	Chronic otitis media, Arthritis, Skin rash, Dehydration, Sinusitis, Failure to thrive, Verrucae, ...	ORPHA:33110
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Failure to thrive secondary to recurrent infections, Decreased proporti...	ORPHA:169160
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Dehydration, Leukopenia, T...	ORPHA:27
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Respiratory distress, Cardiomyopathy, Dehydrat...	OMIM:251000
Pulmonary Alveolar Microlithiasis	Calcification of the aorta, Pleural thickening, Exertional dyspnea, Bronchitis, Testicular microl...	ORPHA:60025
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert...	OMIM:616501
Cystic Echinococcosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Abnormal subp...	ORPHA:400
Brachyolmia Type 1, Toledo Type	Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Intervertebral s...	OMIM:271630
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio...	OMIM:620565
Combined Oxidative Phosphorylation Deficiency 52	Pancreatitis, Hypertrophic cardiomyopathy, Elevated circulating alanine aminotransferase concentr...	OMIM:619386
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Depression, Aspiration pneumonia, Abnormal...	ORPHA:79264
Primary Sclerosing Cholangitis	Prolonged prothrombin time, Neoplasm of the gallbladder, Elevated circulating hepatic transaminas...	ORPHA:171
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Hypertension, Pericarditis, Abnormal heart morphology, Chronic lymph...	ORPHA:91139
Bleeding Disorder, Platelet-Type, 25	Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in...	OMIM:620486
Histiocytoid Cardiomyopathy	Cardiomegaly, Failure to thrive, Tachypnea, Lethargy, Wolff-Parkinson-White syndrome, Atrial flut...	ORPHA:137675
Nemaline Myopathy 2	Spinal rigidity, Hyperlordosis, Sternocleidomastoid amyotrophy, Muscle fiber splitting, Type 1 mu...	OMIM:256030
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Primary Pulmonary Hypoplasia	Pneumothorax, Abnormal hemidiaphragm morphology, Dextrocardia, Ureteral stenosis, Tachypnea, Fail...	ORPHA:2257
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Pulmonary edema, Heart block, Elevated circulating hepatic transaminase conc...	ORPHA:542323
High Altitude Pulmonary Edema	Pulmonary edema, Dyspnea, Leukocytosis, Orthopnea, Tachycardia, Tachypnea	ORPHA:330012
Isolated Glycerol Kinase Deficiency	Short stature, Scoliosis, Hyperlordosis, Cryptorchidism	ORPHA:408
Nemaline Myopathy 5C, Autosomal Dominant	Pelvic girdle muscle weakness, Scoliosis, Hyperlordosis, Scapular winging, Nemaline bodies, Slend...	OMIM:620389
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Deafness-Lymphedema-Leukemia Syndrome	Chronic otitis media, Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, L...	ORPHA:3226
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of the eye, Jau...	ORPHA:39812
Infection-Related Hemolytic Uremic Syndrome	Decreased urine output, Hypertension, Hypertensive crisis, Oliguria, Edema, Myocarditis, Acute ki...	ORPHA:544482
Aicardi-Goutieres Syndrome 7	Hematemesis, Skin rash, Hypertension, Chilblains, Hematochezia, Splenomegaly, Edema, Intrauterine...	OMIM:615846
Biotinidase Deficiency	Decreased circulating biotinidase concentration, Hepatomegaly, Seborrheic dermatitis, Skin rash, ...	OMIM:253260
Beta-Ketothiolase Deficiency	Hepatomegaly, Hypertension, Dehydration, Hypotension, Leukocytosis, Weight loss, Edema, Tachypnea...	ORPHA:134
Autoimmune Lymphoproliferative Syndrome, Type Iii	Obstruction of the superior vena cava, Recurrent sinusitis, Splenomegaly, Stage 5 chronic kidney ...	OMIM:615559
Scorpion Envenomation	Prominent U wave, Hypertension, Premature ventricular contraction, Increased circulating lactate ...	ORPHA:466677
Pyruvate Dehydrogenase E3 Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal cardiac ventricul...	ORPHA:2394
Dihydrolipoamide Dehydrogenase Deficiency	Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:246900
Mogs-Cdg	Hypoventilation, Pulmonary edema, Hepatomegaly, Polyhydramnios, Respiratory distress, Hirsutism, ...	ORPHA:79330
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran...	ORPHA:3384
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Delayed puberty, Dilatation of the cerebral artery, Oropharyngeal squamous cell carcinoma, Lympho...	ORPHA:391487
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholestasis, A...	OMIM:613658
Mercury Poisoning	Acute kidney injury, Respiratory distress, Hypertension, Dyspnea, Hypotension, Tachycardia, Inter...	ORPHA:330021
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M...	ORPHA:98855
Colchicine Poisoning	Myocarditis, Congestive heart failure, Respiratory distress, Dehydration, Hypotension, Hypovolemi...	ORPHA:31824
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Joint contracture, Nonimmune hydrops fetalis, Flexion contracture, ...	OMIM:608540
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Dna2-Related Mitochondrial Dna Deletion Syndrome	Exertional dyspnea, Depression, Hyperlordosis, Limb-girdle muscle weakness, Slender build, Multip...	ORPHA:352470
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Short stature, Paroxysmal atrial ...	ORPHA:49827
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy, Lethargy, Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M...	ORPHA:98853
Trimethylaminuria	Trimethylaminuria, Anemia, Depression, Hypertension, Recurrent pneumonia, Splenomegaly, Tachycard...	OMIM:602079
Aicardi-Goutieres Syndrome 9	Elevated circulating hepatic transaminase concentration, Hypertension, Chilblains, Ascites, Peric...	OMIM:619487
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Intervertebral space narrowing, Scoliosis, Thoracic kyphosis, Irregular vertebral endplates, Disp...	OMIM:609223
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal aortic valve morphology, Anemia, Vascular dilatation, I...	ORPHA:3287
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Tachycardia, Bradycardia, Cardiac arrest, Hypotension, Nasal flarin...	ORPHA:70587
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Aspiration pneumonia, Weight loss, Hamartoma	ORPHA:141152
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated...	OMIM:605274
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Schimke Immunoosseous Dysplasia	Hypertension, Cerebral ischemia, Lymphopenia, Intrauterine growth retardation, Stage 5 chronic ki...	OMIM:242900
X-Linked Emery-Dreifuss Muscular Dystrophy	Hypertriglyceridemia, Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, M...	ORPHA:98863
Niemann-Pick Disease, Type B	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia,...	OMIM:607616
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Thick hair, Intrahepatic biliary atresia, Alopeci...	OMIM:607626
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage	OMIM:137560
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Spinal rigidity, Respiratory distress, Scoliosis, Calf muscle hypertrophy, Ca...	ORPHA:86812
Hereditary Pulmonary Alveolar Proteinosis	Foam cells, Respiratory distress, Acute infectious pneumonia, Crazy paving pattern, Tachycardia, ...	ORPHA:264675
Methylcobalamin Deficiency Type Cble	Postnatal growth retardation, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increas...	ORPHA:2169
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Lymphocytic interstitial pneumonia, Cor pulmonale	OMIM:247610
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Mediastinal lymphadenopathy, Purpura, Petec...	ORPHA:91138
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb muscle weakness, Scoliosis, Hyperlordosis, Elbow flexion contracture, Spinal mu...	OMIM:600175
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Recurrent otitis media, Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent respiratory infec...	OMIM:300853
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Neutropenia, Pancreatitis, Anemia, Respiratory distress, Growth delay, Thrombocytop...	ORPHA:289916
Mucopolysaccharidosis Type 7	Anterior beaking of lumbar vertebrae, Hydrops fetalis, Arteriovenous malformation, Inguinal herni...	ORPHA:584
Meckel Syndrome, Type 7	Situs inversus totalis, Atrial septal defect, Inguinal hernia, Cholestasis, Biliary cirrhosis, Po...	OMIM:267010
Congenital Muscular Dystrophy Due To Lmna Mutation	Congestive heart failure, Spinal rigidity, Cachexia, Hyperlordosis, Skeletal muscle atrophy, Flex...	ORPHA:157973
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Biconvex ver...	OMIM:616651
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic transaminase concen...	ORPHA:858
Neuraminidase Deficiency	Hepatomegaly, Hydrops fetalis, Inguinal hernia, Vacuolated lymphocytes, Bone-marrow foam cells, C...	OMIM:256550
Spinal Muscular Atrophy, Infantile, James Type	Scoliosis, Hip contracture, Lumbar hyperlordosis, Short stature	OMIM:619042
Hyperinsulinism Due To Ucp2 Deficiency	Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hyper...	ORPHA:276556
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Chronic oral candidiasis, Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, A...	ORPHA:276
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Neutropenia, Anemia, Lymphadenopathy, Arthritis, Decreased FOXP3-expressing T cell count, Alopeci...	OMIM:304790
Glycogen Storage Disease Ixc	Hypertriglyceridemia, Postnatal growth retardation, Cirrhosis, Hepatomegaly, Elevated circulating...	OMIM:613027
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hyper...	ORPHA:276575
Fucosidosis	Absent/hypoplastic coccyx, Splenomegaly, Cardiomegaly, Hernia, Anterior beaking of thoracic verte...	OMIM:230000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Congestive heart failure, Elevated circulating alkaline phosphatase concentration, Abnormality of...	ORPHA:52430
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,...	OMIM:231200
Glycogen Storage Disease Due To Acid Maltase Deficiency	Exertional dyspnea, Hyperlordosis, Increased circulating lactate dehydrogenase concentration, Lef...	ORPHA:365
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Dyspnea, Failure to th...	ORPHA:99931
Isolated Biliary Atresia	Decreased liver function, Prolonged prothrombin time, Xanthelasma, Elevated circulating hepatic t...	ORPHA:30391
Slc35A2-Cdg	Osteopenia, Hip subluxation, Abnormal long bone morphology, Talipes equinovarus, Increased circul...	ORPHA:356961
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Cholestasis, Ascites, Prolonged neonatal jaundice, Acute hepatic failure, Micronodular cirrhosis,...	OMIM:256810
Immunodeficiency 27A	Anemia, Lymphadenopathy, Salmonella osteomyelitis, Leukocytosis, Increased inflammatory response,...	OMIM:209950
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Lethargy	OMIM:617065
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Failure to thrive, Recurr...	OMIM:617514
Alveolar Echinococcosis	Decreased liver function, Abnormal spleen morphology, Biliary cirrhosis, Jaundice, Cholangitis, D...	ORPHA:284
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Pelger-Huet Anomaly	Polydactyly, Short 4th metacarpal, Pes cavus, Giant platelets, Upper limb undergrowth, Hyposegmen...	OMIM:169400
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Failure to thrive, Apnea, Skeletal muscle atrophy, Left ventricular ...	OMIM:618228
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ...	ORPHA:158061
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Hernia, Pate...	ORPHA:505248
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Ascites, Abnormal mast cell morphology, Ne...	ORPHA:98850
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Tachycardia, Hyper...	ORPHA:276580
Sitosterolemia 1	Elevated circulating sitosterol concentration, Reduced haptoglobin level, Chronic hemolytic anemi...	OMIM:210250
Pulmonary Capillary Hemangiomatosis	Elevated pulmonary artery pressure, Pulmonary edema, Pulmonary capillary hemangiomatosis, Exertio...	ORPHA:199241
Galactose Epimerase Deficiency	Jaundice, Hepatomegaly, Growth delay, Splenomegaly, Weight loss, Aminoaciduria	ORPHA:79238
Myh9-Related Disease	Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epist...	ORPHA:182050
Weismann-Netter Syndrome	Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal cortic...	ORPHA:3344
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Immunodeficiency With Hyper-Igm, Type 1	Chronic oral candidiasis, Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, ...	OMIM:308230
Immunodeficiency 24	Reduced proportion of mucosal-associated invariant T cells, Respiratory tract infection, Lymphope...	OMIM:615897
African Trypanosomiasis	Urinary incontinence, Optic neuritis, Pericarditis, Splenomegaly, Second degree atrioventricular ...	ORPHA:3385
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Exertional dyspnea, Depression, Patent foramen ovale, Hyperlordosis, Dyspnea, Generalized amyotro...	OMIM:615156
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, T-cell lymphoma, Impaired lymphocyte transformation with phytohemagg...	OMIM:243150
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Hypochromia, Spherocytosis, Reticulocytosis, Increased circulating l...	ORPHA:71275
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Decreased liver function, Elevated circulating hepatic transaminase concentration, Atrial septal ...	OMIM:615160
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Stomatitis, Reduced number of intrahepatic bile ducts, Skin rash, Mega...	ORPHA:79284
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Decreased glomerular filtra...	ORPHA:340
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Anemia, Lymphadenopathy, Hyper...	ORPHA:69077
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hepatomegaly, Reduced tissue alpha-N-acetylglucosaminidase activity, Hirsutism, Asym...	OMIM:252920
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Eczematoid dermatitis, ...	OMIM:269840
Kaposi Sarcoma	Venous insufficiency, Skin rash, Neoplasm of the skin, Neoplasm by anatomical site, Lymphedema, H...	ORPHA:33276
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Dehydration, Failure to thrive, Renal insufficiency, Lethargy	ORPHA:28
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Elevated urinary inosi...	OMIM:613179
Nephronophthisis 19	Nephronophthisis, Hepatomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferation, Splenomeg...	OMIM:616217
Spondyloenchondrodysplasia	Skin rash, Hypertension, Kyphosis, Granuloma, Decreased response to growth hormone stimulation te...	ORPHA:1855
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Decreased response to growth hormone stimulation test, Atelectasis, Recurrent respiratory infecti...	OMIM:610978
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy...	OMIM:615395
Activated Pi3K-Delta Syndrome	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Arthritis, B lympho...	ORPHA:397596
Cocaine Intoxication	Prolonged QT interval, Hypertension, Increased circulating lactate dehydrogenase concentration, P...	ORPHA:90068
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia, Rhizomelia, Recurrent respiratory infections, Hypertrophic cardiomyopathy, ...	ORPHA:1842
Gaucher Disease Type 1	Delayed puberty, Ascites, Leukopenia, Splenomegaly, Abnormal bleeding, Pancytopenia, Depression, ...	ORPHA:77259
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Lymphoma, Splenomegaly, Weight loss, Breast carcinoma, B-cell lymp...	ORPHA:86893
Isolated Atp Synthase Deficiency	3-Methylglutaconic aciduria, Hepatomegaly, Respiratory distress, Hypertrophic cardiomyopathy, Sho...	ORPHA:254913
Acheiropody	Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to...	OMIM:200500
Caroli Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Leukopenia, Abnormal intrah...	ORPHA:480520
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transamin...	ORPHA:369
Joubert Syndrome 9	Scoliosis, Hepatic fibrosis, Apnea, Stage 5 chronic kidney disease, Episodic tachypnea	OMIM:612285
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Complement Component C1S Deficiency	Hashimoto thyroiditis, Hepatitis	OMIM:613783
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy...	OMIM:614096
Absence Of The Pulmonary Artery	Abnormal inferior vena cava morphology, Abnormal heart morphology, Cardiomegaly, Abnormal cardiac...	ORPHA:980
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Petechiae, Pl...	OMIM:617397
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Nail dystrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Cholesta...	OMIM:615895
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechia...	ORPHA:294
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal tubular acidosis, Tr...	ORPHA:156
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Dyspnea, Pulmonary arterial hypertension, Failure to thr...	OMIM:265120
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Patent ductus arteriosus	OMIM:610498
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly, Cardiomyopathy	OMIM:609016
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Alopecia of scalp, Hepatomegaly, Abnormally low T cell receptor excision circle level, B lymphocy...	OMIM:602450
Cranioectodermal Dysplasia 2	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypertension, Cholestas...	OMIM:613610
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Left ventricular systolic dysfunction, Skeletal muscle hypertrophy, Scoliosis...	OMIM:613156
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Recurrent pneumonia, Splenom...	OMIM:619164
Mucopolysaccharidosis, Type Iva	Grayish enamel, Hepatomegaly, Lumbar kyphosis, Anterior beaking of lumbar vertebrae, Inguinal her...	OMIM:253000
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Left ventricular systolic dysfunction, Abnormal macrophage morphology, Calf muscle pseudohypertro...	ORPHA:353
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Distal lower limb muscle weakness, Lower limb amyotrophy, Scoliosis, Hyperlordosis, Scapular wing...	OMIM:615290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Scoliosis, Hyperlordos...	OMIM:253700
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi...	ORPHA:602
Joubert Syndrome 7	Nephronophthisis, Scoliosis, Renal cyst, Tachypnea, Stage 5 chronic kidney disease, Central apnea...	OMIM:611560
Proteasome-Associated Autoinflammatory Syndrome 5	Hypertriglyceridemia, Hepatomegaly, Skin rash, Splenomegaly, Failure to thrive in infancy	OMIM:619175
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Spinal rigidity, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystrogl...	OMIM:609308
Citrullinemia Type I	Torticollis, Failure to thrive, Tachypnea, Lethargy, Hepatic failure	ORPHA:247525
Melioidosis	Lung abscess, Prostatitis, Liver abscess, Acute infectious pneumonia, Foot osteomyelitis, Parotit...	ORPHA:31202
Methylmalonic Acidemia With Homocystinuria	Failure to thrive, Skin rash, Lethargy	ORPHA:26
Leigh Syndrome	Abnormal pattern of respiration, Hepatocellular necrosis, Failure to thrive, Hypertrichosis	OMIM:256000
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Jaundice, Homocystinuria, Respiratory distress, Megalobla...	OMIM:250940
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal heart morphology, Abnormal cardiac atrium morphology, Postu...	ORPHA:85443
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concent...	OMIM:600649
Follicular Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Lymphedema, Pleural...	ORPHA:545
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Jaundice, Hepatomegaly, Generalized aminoaciduria, Respiratory distress, Renal...	OMIM:231680
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Dyspnea, Primary hyperparathyroidism,...	OMIM:239200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Hypergonadotropic hypogonadism, Decreased testicular size, Short stature...	ORPHA:3085
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Dihydropyrimidine Dehydrogenase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Growth delay, Failure to thrive, Reduced dihyd...	OMIM:274270
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Increased circulat...	ORPHA:158057
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Urinary incontinence, Distal amyotrophy, Spinal muscular atrophy, Limb muscle weakness, Failure t...	OMIM:604320
Congenital Disorder Of Glycosylation, Type Iiw	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Prolonged ne...	OMIM:619525
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Vascular dilatation, Dilatation of the cerebral artery, Exert...	ORPHA:615
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s...	OMIM:620203
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Inguinal he...	OMIM:230500
Hjv Or Hamp-Related Hemochromatosis	Abnormality of endocrine pancreas physiology, Elevated circulating hepatic transaminase concentra...	ORPHA:79230
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Biconvex vertebral bodies, Lymphadenopathy,...	ORPHA:353298
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Hydrops fetalis, Elevated circulating hepatic transaminase concentratio...	OMIM:609015
Gaucher Disease	Delayed puberty, Leukopenia, Splenomegaly, Abnormal bleeding, Hydrops fetalis, Pancytopenia, Depr...	ORPHA:355
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatomegaly, Increased circulating cortisol level, D...	ORPHA:97287
Autosomal Dominant Spondylocostal Dysostosis	Spina bifida occulta, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Severe short statu...	ORPHA:1797
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Ascites, Left-to...	OMIM:619534
Osteopetrosis, Autosomal Recessive 2	Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocyt...	OMIM:259710
Pfapa Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent pharyngitis, Arthritis, Splenomegaly, Weight loss, Infec...	ORPHA:42642
Orofaciodigital Syndrome Type 10	Fibular aplasia, Preaxial polydactyly, Tarsal synostosis, Mesomelic arm shortening, Short 4th fin...	ORPHA:2756
Evans Syndrome	Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib...	ORPHA:1959
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Cervical spinal canal stenosis, Rhizomelic leg shortening, Elevated circulating hepatic transamin...	ORPHA:397715
Mucopolysaccharidosis, Type Vi	Kyphoscoliosis, Sinus tachycardia, Cardiomyopathy, Dermatan sulfate excretion in urine, Splenomeg...	OMIM:253200
Congenital Disorder Of Glycosylation, Type Iih	Scoliosis, Elevated serum transaminases during infections, Elevated circulating aspartate aminotr...	OMIM:611182
Anauxetic Dysplasia 2	Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical spine instability, Short stature, Ovoid ver...	OMIM:617396
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Failure to thrive, Tachypnea, Anemia, Lethargy	OMIM:615838
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hepatomegaly, Short stature, Coarctation of aorta, Leukopenia, Sple...	OMIM:620210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Scoliosis, Calf muscle hypertrophy, Cardiomy...	OMIM:608099
Sialidosis Type 2	Hepatomegaly, Hydrops fetalis, Inguinal hernia, Dyspnea, Ascites, Kyphosis, Short stature, Umbili...	ORPHA:87876
Peroxisome Biogenesis Disorder 5A (Zellweger)	Palpebral edema, Cholestasis, Increased circulating lactate dehydrogenase concentration, Renal co...	OMIM:614866
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Steatorrhea, Anemia, Hypochromic microcytic anemia, Inguinal hernia, R...	ORPHA:440713
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Respiratory distress, Stroke, Cerebral ischemia, Failure to thrive, Lethargy, Myelo...	ORPHA:927
Pyruvate Dehydrogenase Deficiency	Dyspnea, Growth delay, Intrauterine growth retardation, Tachypnea, Multiple lipomas, Lethargy	ORPHA:765
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Lethargy	ORPHA:71277
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Intrahepatic cholestasis, Giant cell hepatitis, Jaundice, Hepatomegaly, Elevated circu...	OMIM:607765
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, Anasa...	OMIM:261740
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Reticulocytosis, Short stature, Failure to thrive, Nephrocalcinosis, Hepatosplenomeg...	OMIM:611590
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Hypertension, Hyperlipidemia, Skeletal muscle atrophy, Lipodystrophy, Abdomin...	OMIM:615980
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Congestive heart failure, 3-Methylglutaconic aciduria, Atrial septa...	OMIM:610198
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Fibular aplasia, Tibial bowing, Finger aplasia, Foot oligodactyly, Syndactyly, Short tibia	OMIM:246570
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Fibular hypoplasia, Absent thumb, Aplasia/Hypoplasia of the radius, Short...	OMIM:612447
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:619644
Giant Cell Arteritis	Hematuria, Mediastinal lymphadenopathy, Recurrent pharyngitis, Depression, Vasculitis, Arthritis,...	ORPHA:397
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Premature ventricular contraction, Umbilical hernia, Ca...	OMIM:300855
Combined Oxidative Phosphorylation Deficiency 11	Decreased liver function, Stillbirth, Hepatomegaly, Polyhydramnios, Renal tubular acidosis, Cardi...	OMIM:614922
Hellp Syndrome	Prolonged prothrombin time, Acute kidney injury, Pulmonary edema, Elevated circulating hepatic tr...	ORPHA:244242
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Petechiae, Skin rash, Gingival bleeding, Hypotension, ...	ORPHA:99828
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Intrauterine growth retardation, H...	OMIM:620135
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Enlarged kidney, Ureteral duplication, Elevated circulating hepatic transaminase concentration, C...	OMIM:608836
Gaucher Disease Type 2	Hepatomegaly, Respiratory distress, Cardiac arrest, Flexion contracture, Splenomegaly, Abnormal p...	ORPHA:77260
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Scler...	OMIM:619662
Babesiosis	Congestive heart failure, Jaundice, Hepatomegaly, Recurrent pharyngitis, Depression, Leukopenia, ...	ORPHA:108
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Lymphadenopathy, Arthritis, Skin rash, Pleural effusion, Pericarditis, Splenomegaly...	ORPHA:85414
Glycogen Storage Disease Iv	Cirrhosis, Hydrops fetalis, Polyhydramnios, Bradycardia, Tubulointerstitial fibrosis, Cardiomyopa...	OMIM:232500
Hyperinsulinism Due To Hnf1A Deficiency	Large for gestational age, Hepatomegaly, Small for gestational age, Tachycardia, Syncope, Palpita...	ORPHA:324575
King-Denborough Syndrome	Kyphoscoliosis, Minicore myopathy, Type 1 muscle fiber predominance, Scoliosis, Thoracic kyphosis...	OMIM:619542
Metaphyseal Dysplasia, Braun-Tinschert Type	Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop...	ORPHA:85188
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Rickets, Genu valgum, Generalized bone demineralization, Fibular bowing, Rickets of the lower lim...	OMIM:600785
Distal Nebulin Myopathy	Ankle flexion contracture, Exertional dyspnea, Cardiomyopathy, EMG: myopathic abnormalities, Nema...	ORPHA:399103
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Congenital foot contraction deformities, Hyperlordosis, Hand muscle weakness, Flexion contracture...	ORPHA:363454
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy	OMIM:618224
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Nocturnal hypoventilation, Exercise-induced myoglobinuria, Scoliosis, Hyperlo...	OMIM:607155
Leukocyte Adhesion Deficiency	Perianal abscess, Nail dystrophy, Severe periodontitis, Sinusitis, Bone marrow hypocellularity, I...	ORPHA:2968
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hepatocellular Carcinoma	Subacute progressive viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis	OMIM:114550
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Edema, Tachypnea	OMIM:267450
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Dicarboxylic aciduria, Hepatomegaly,...	OMIM:212138
Isovaleric Acidemia	Cerebellar hemorrhage, Pancytopenia, Hyperglycinuria, Dehydration, Reduced isovaleryl CoA dehydro...	OMIM:243500
Mucopolysaccharidosis, Type Vii	Reduced leukocyte beta-glucuronidase activity, Cardiomyopathy, Kyphosis, Dermatan sulfate excreti...	OMIM:253220
Mitochondrial Complex I Deficiency, Nuclear Type 11	Congestive heart failure, Wolff-Parkinson-White syndrome, Macrovesicular hepatic steatosis, Hepat...	OMIM:618234
Spondyloenchondrodysplasia With Immune Dysregulation	Kyphoscoliosis, Tubulointerstitial fibrosis, T lymphocytopenia, Recurrent sinusitis, Lymphopenia,...	OMIM:607944
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Ankle flexion contracture, Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Reduced muscle...	ORPHA:280333
Ataxia-Telangiectasia	Premature graying of hair, Delayed puberty, Elevated circulating hepatic transaminase concentrati...	ORPHA:100
Methylmalonic Aciduria, Cblb Type	Decreased methylmalonyl-CoA mutase activity, Hepatomegaly, Anemia, Pancytopenia, Respiratory dist...	OMIM:251110
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Aortic Arch Interruption	Exertional dyspnea, Blood pressure substantially higher in arms than legs, Hypertension, Aortopul...	ORPHA:2299
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Polyhydramnios, Hydrops fetalis, Pericarditis, Sp...	ORPHA:163596
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:79301
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Decreased methionine synthase activity, Hepatomegaly, Anemia, Dextrocardia, Homocystinuria, Stoma...	OMIM:277380
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transamina...	ORPHA:507
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy, Abnormality of connective tissue, Ski...	ORPHA:79128
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:613657
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hepatomegaly, Respiratory distress, Cardiac arrest, Hypertrophic cardiomyopathy, Increased variab...	OMIM:604377
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Femoral bowing, Short long bone, Clubbing, Tibial bowing, Absent pate...	OMIM:601559
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Recurrent bronchopulmonary infections, Low posterior hairline, Bone marrow hypoc...	OMIM:617303
Acute Liver Failure	Prolonged prothrombin time, Acute kidney injury, Gastrointestinal hemorrhage, Jaundice, Elevated ...	ORPHA:90062
Tibial Hemimelia	Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity...	ORPHA:93322
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Kyphoscoliosis, Elevated circulating hepatic transaminase concentration,...	OMIM:300280
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Delayed puberty, Abnormal vertebral morphology, Increased vertebral height, Hyper...	OMIM:616817
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Cholangitis, Pancytopenia, Thyroiditis, Neutropenia in presence of anti-neutropil anti...	ORPHA:228426
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia	ORPHA:238459
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Scoliosis, Kyphosis, Short stature, Obesity, Lumbar hyperlordosis	OMIM:616756
Necrotizing Enterocolitis	Neutropenia, Bradycardia, Hypotension, Ascites, Leukocytosis, Abnormal heart morphology, Thromboc...	ORPHA:391673
Congenital Myopathy 4A, Autosomal Dominant	Scoliosis, Facial palsy, Failure to thrive, Centrally nucleated skeletal muscle fibers, Type 1 fi...	OMIM:255310
Eisenmenger Syndrome	Exertional dyspnea, Aortopulmonary window, Ascites, Left-to-right shunt, Abnormal heart morpholog...	ORPHA:97214
Isolated Agammaglobulinemia	Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormality of the ...	ORPHA:229717
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperl...	ORPHA:369840
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Recurrent otitis media, B lymphocytopenia, T lymphocytopenia, Sinusitis,...	ORPHA:277
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Growth delay, Failure to thrive, Apnea, Lethargy	OMIM:618226
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Scoliosis, Abnormal Z disk...	OMIM:618654
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Scoliosis, Supraventricular tachycardia, Organic aciduria, Cardiomyopathy, Fatty replacement of s...	OMIM:255100
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Neoplasm of the nervous system, Ascites,...	ORPHA:100085
Childhood-Onset Nemaline Myopathy	Bradykinesia, Spinal rigidity, Generalized limb muscle atrophy, Polyhydramnios, Scoliosis, Facial...	ORPHA:171439
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Panniculitis, Hepatomegaly, Emphysema, Bronchitis, Hepatocellular carcinoma,...	ORPHA:60
Tarp Syndrome	Scoliosis, Intrauterine growth retardation, Cryptorchidism, Failure to thrive, Hydronephrosis, Te...	ORPHA:2886
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw...	OMIM:619375
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Limb hypertonia, Pancytopenia, F...	OMIM:259720
Majeed Syndrome	Acne, Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Synovitis, Microscopic...	ORPHA:77297
Familial Mediterranean Fever	Skin rash, Ascites, Pericarditis, Nephrocalcinosis, Acute hepatic failure, Splenomegaly, Depressi...	ORPHA:342
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Kaposiform Lymphangiomatosis	Enlarged kidney, Abnormal form of the vertebral bodies, Abnormal spleen morphology, Lymphangioma,...	ORPHA:464329
Reticular Dysgenesis	Chronic otitis media, Anemia, Skin rash, Dehydration, Failure to thrive, Leukopenia, Weight loss,...	ORPHA:33355
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Giant platelets, Anemia, Short long bone, Camptodactyly, Broad femoral ne...	OMIM:611209
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Skin ras...	OMIM:603552
Common Variable Immunodeficiency	Chronic otitis media, Purpura, Elevated circulating hepatic transaminase concentration, Lymphaden...	ORPHA:1572
Idiopathic Achalasia	Bronchitis, Recurrent aspiration pneumonia, Weight loss	ORPHA:930
Caspase 8 Deficiency	Lymphadenopathy, Eczematoid dermatitis, Short stature, Failure to thrive, Splenomegaly, Recurrent...	OMIM:607271
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Orofaciodigital Syndrome Viii	Polydactyly, Short tibia, Syndactyly	OMIM:300484
Trichohepatoenteric Syndrome 2	Trichorrhexis nodosa, Cirrhosis, Hepatomegaly, Brittle hair, Uncombable hair, Woolly hair, Chroni...	OMIM:614602
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Melena, Acute pancreatitis, Dyspnea, Leukopenia, ...	ORPHA:319218
Combined Oxidative Phosphorylation Deficiency 37	Decreased liver function, 3-Methylglutaconic aciduria, Prolonged prothrombin time, Macrovesicular...	OMIM:618329
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Hepatomegaly, Inguinal hernia, Keratan sulfate excretion in urine, Scoliosis, Hyp...	OMIM:253010
Immunodeficiency 82 With Systemic Inflammation	Crohn's disease, Skin rash, B-cell lymphoma, Bronchitis, T lymphocytopenia, Splenomegaly, Reduced...	OMIM:619381
Atypical Rett Syndrome	Sudden episodic apnea, Scoliosis, Kyphosis, Growth delay, Abnormal pattern of respiration, Episod...	ORPHA:3095
Ethylene Glycol Poisoning	Congestive heart failure, Renal tubular epithelial necrosis, Pulmonary edema, Gastritis, Prolonge...	ORPHA:31826
Congenital Myopathy 16	Scoliosis, Spinal rigidity, Flexion contracture, Lumbar hyperlordosis	OMIM:618524
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Glycogen Storage Disease Iii	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced muscle glycogen de...	OMIM:232400
Holocarboxylase Synthetase Deficiency	Reduced holocarboxylase synthetase activity in cultured fibroblasts, Alopecia, Skin rash, Organic...	OMIM:253270
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Hypertrophic cardiomyopathy, Failure to thrive, Neonatal death, Flexion contracture, In...	OMIM:618237
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Acute hepatitis, Failure to thrive, Lethargy, Homocitrull...	OMIM:238970
Congenital Disorder Of Glycosylation, Type Ig	Butterfly vertebrae, Polyhydramnios, Rhizomelia, Hypospadias, Respiratory distress, Patent forame...	OMIM:607143
Mitochondrial Trifunctional Protein Deficiency	Congestive heart failure, Hypoparathyroidism, Cardiomyopathy, Cholestasis, Tricuspid regurgitatio...	ORPHA:746
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Anemia, Elevated circulating hepatic trans...	ORPHA:67
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hirsutism, Kyphosis, Short stature, Recurrent respiratory infections, Small for gestational age	ORPHA:85288
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Skin rash, Pericarditis, Splenomegaly, Cellulitis, Vasculitis, Conjunctivitis, Uveitis, Recurrent...	ORPHA:32960
Acute Promyelocytic Leukemia	Abnormal bleeding, Purpura, Hematuria, Anemia, Lymphadenopathy, Pancytopenia, Stomatitis, Petechi...	ORPHA:520
Immunodeficiency, Common Variable, 1	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce...	OMIM:613490
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis, Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy,...	OMIM:611067
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Recurrent ...	ORPHA:572
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia	OMIM:613885
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Abnormality of the lymphatic syst...	ORPHA:1414
Beta-Thalassemia, Dominant Inclusion Body Type	Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc...	OMIM:603902
Adult Acute Respiratory Distress Syndrome	Pulmonary edema, Pancreatitis, Vasculitis, Dyspnea, Hypotension, Pneumonia, Shock	ORPHA:70578
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphocytosis, Skin rash, Recurrent bacterial skin infections, Chronic oral candidiasis, Failure ...	ORPHA:911
Immunodeficiency, Common Variable, 2	Recurrent otitis media, Hepatomegaly, Lymphadenopathy, Recurrent bronchitis, Abnormal T cell coun...	OMIM:240500
Tularemia	Pneumonia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Inflam...	ORPHA:3392
Myopathic Ehlers-Danlos Syndrome	Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture...	ORPHA:536516
Breath-Holding Spells	Pallor	OMIM:607578
Diastrophic Dysplasia	Kyphoscoliosis, Neonatal short-limb short stature, Glabellar hemangioma, Disproportionate short-l...	OMIM:222600
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Hydrops fetalis, Recurrent lower respiratory tract infect...	OMIM:253250
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullar...	OMIM:254450
Myopathy, X-Linked, With Postural Muscle Atrophy	Spinal rigidity, Skeletal muscle hypertrophy, Scoliosis, Rimmed vacuoles, Scapular winging, EMG: ...	OMIM:300696
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Dilatation of the cerebral artery, Aortic valve stenosis, Lower eyel...	ORPHA:363705
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Ogden Syndrome	Postnatal growth retardation, Aplasia/Hypoplasia of the eyebrow, Torticollis, Inguinal hernia, Sc...	ORPHA:276432
Poems Syndrome	Leukonychia, Hepatomegaly, Lymphadenopathy, Visceromegaly, Ascites, Pulmonary arterial hypertensi...	ORPHA:2905
Congenital Disorder Of Glycosylation, Type Ia	Prolonged prothrombin time, Steatorrhea, Elevated circulating hepatic transaminase concentration,...	OMIM:212065
Anemia, Congenital Dyserythropoietic, Type Iv	Anemia of inadequate production, Reticulocytosis, Increased circulating lactate dehydrogenase con...	OMIM:613673
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Recurrent lower respiratory tract infections, Pancytopenia, Hodgkin lymphom...	OMIM:620282
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Abnormal vertebral morphology, Abnormality of the vertebral column, Failure to thrive, Tetralogy ...	OMIM:250620
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Increased circulating lactate dehydrogenase concentration, Granuloma, Splen...	OMIM:619802
Spastic Paraplegia 18B, Autosomal Recessive	Scoliosis, Kyphosis, Joint contracture, Skeletal muscle atrophy, Lower limb muscle weakness	OMIM:611225
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ...	OMIM:613255
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Hurler-Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Inguinal hernia, Scoliosis, Hirsutism, Pulmonary arterial hyp...	OMIM:607015
Nemaline Myopathy 7	Kyphoscoliosis, Weakness of facial musculature, Shoulder girdle muscle weakness, Nemaline bodies,...	OMIM:610687
Hypocomplementemic Urticarial Vasculitis	Small vessel vasculitis, Inflammatory abnormality of the eye, Skin rash, Ascites, Angioedema, Spl...	ORPHA:36412
Masa Syndrome	Short stature, Hyperlordosis, Kyphosis	OMIM:303350
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
Alstrom Syndrome	Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hypertension, Kyph...	OMIM:203800
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Marburg Hemorrhagic Fever	Prolonged prothrombin time, Elevated circulating hepatic transaminase concentration, Bradycardia,...	ORPHA:99826
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Immunodeficiency 8 With Lymphoproliferation	Chronic oral candidiasis, Recurrent otitis media, Recurrent lower respiratory tract infections, L...	OMIM:615401
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pa...	ORPHA:83469
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Erythroderma,...	ORPHA:39041
Cholera	Acute kidney injury, Hyperventilation, Stroke, Dehydration, Hypovolemic shock, Hypotension, Aspir...	ORPHA:173
Lysinuric Protein Intolerance	Hypertriglyceridemia, Steatorrhea, Argininuria, Elevated circulating hepatic transaminase concent...	ORPHA:470
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Jaundice, Cirrhosis, Elevated circulating hepatic transaminase concentration, He...	OMIM:619902
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normochromic anemia, Skin rash, Hypertension, Cardiomyopathy, Telang...	ORPHA:247691
Hypertriglyceridemia, Transient Infantile	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Shor...	OMIM:614480
Satoyoshi Syndrome	Sparse or absent eyelashes, Abnormal hair morphology, Hypoplasia of the ovary, Hyperlordosis, Abn...	ORPHA:3130
Idiopathic Congenital Hypothyroidism	Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Facial edema, Macroglossia, Lethargy	ORPHA:95717
Autosomal Dominant Progressive External Ophthalmoplegia	Exertional dyspnea, Elevated circulating hepatic transaminase concentration, Facial diplegia, Noc...	ORPHA:254892
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Failure to thrive, I...	OMIM:613752
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnormal circulating enzym...	ORPHA:348
3-Methylglutaconic Aciduria Type 4	Decreased liver function, 3-Methylglutaconic aciduria, Cardiomyopathy, Failure to thrive, Thrombo...	ORPHA:67048
Congenital Bile Acid Synthesis Defect Type 3	Cirrhosis, Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Bi...	ORPHA:79302
Immunodeficiency 54	Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, ...	OMIM:609981
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Lymphoma, Splenomega...	OMIM:614470
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Distal lower limb muscle weakness, Distal amyotrophy, Hyperlordosis, Spinal muscular atrophy, Int...	OMIM:607088
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Steatorrhea, Increased circulating lactate dehydrogenase concentration, Leu...	OMIM:278000
Mucopolysaccharidosis, Type Iiia	Coarse hair, Hepatomegaly, Reduced leukocyte N-sulfoglucosamine sulfohydrolase activity, Inguinal...	OMIM:252900
Transaldolase Deficiency	Decreased liver function, Splenomegaly, Micronodular cirrhosis, Intrauterine growth retardation, ...	OMIM:606003
Systemic Lupus Erythematosus	Pleuritis, Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolyti...	OMIM:152700
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Hydrops fetalis, Chylopericardium, Respiratory distress, ...	ORPHA:2414
Coccidioidomycosis	Skin rash, Cerebral ischemia, Granuloma, Pericarditis, Erythema nodosum, Morbilliform rash, Vascu...	ORPHA:228123
Complement Component 4B Deficiency	Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Muscular dystrophy, Spinal rigidity, Ankle flexion contracture, Calf muscle hypertrophy, Hyperlor...	ORPHA:267
Citrullinemia Type Ii	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Decreased body mass index, Elevated circulating...	ORPHA:247585
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat...	OMIM:612387
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Scoliosis, Short stature, Recurrent pneumonia, Splenomegaly, Disproportionate short-t...	OMIM:602271
Gm1-Gangliosidosis, Type Iii	Hepatomegaly, Anterior beaking of lumbar vertebrae, Foam cells, Scoliosis, Kyphosis, Short statur...	OMIM:230650
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Normochromic anemia, Macrocytic dyserythropoietic anemia, Mal...	ORPHA:124
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Esophageal neoplasm, Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Weight loss	ORPHA:2198
Hurler Syndrome	Hypertension, Cardiomyopathy, Splenomegaly, Hernia, Depression, Abnormality of the tonsils, Scoli...	ORPHA:93473
Classic Galactosemia	Delayed puberty, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	ORPHA:79239
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pancreatic islet-cell hyperplasia, Lethargy, Increased body weight	ORPHA:276608
Porphyria Cutanea Tarda	Elevated circulating hepatic transaminase concentration, Increased urinary porphobilinogen, Abnor...	ORPHA:101330
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Sparse lateral eyebrow, Enamel hypoplasia, Recurrent respiratory infections, Hepatitis	ORPHA:363523
Acrofacial Dysostosis Syndrome Of Rodriguez	Fibular hypoplasia, Triphalangeal thumb, 11 pairs of ribs, Oligodactyly, Micrognathia, Overlappin...	OMIM:201170
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic acetabulae, Short ri...	OMIM:620076
Metaphyseal Chondrodysplasia, Spahr Type	Disproportionate short stature, Scoliosis, Hyperlordosis	ORPHA:2501
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Decreased liver function, Hepatomegaly, Oroticaciduria, Elevated circulating hepatic transaminase...	ORPHA:415
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Delayed puberty, Hepatocellular adenoma, Portal fibrosis, Elevated circulat...	ORPHA:264580
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Sarcoma, Splenomegaly, ...	ORPHA:66661
Classic Hodgkin Lymphoma	Hepatomegaly, Lymphadenopathy, Skin rash, Lymphoma, Bone marrow hypocellularity, Splenomegaly, We...	ORPHA:391
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Autoimmune Polyendocrinopathy Type 4	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227990
Agammaglobulinemia, X-Linked	Recurrent otitis media, Pyoderma, Prostatitis, Anemia, Recurrent lower respiratory tract infectio...	OMIM:300755
Polyarteritis Nodosa	Pleuritis, Hypertension, Cardiomyopathy, Pericarditis, Abnormal lung morphology, Raynaud phenomen...	ORPHA:767
Caroli Disease	Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Behçet Disease	Gastrointestinal hemorrhage, Optic neuritis, Cerebral ischemia, Pericarditis, Splenomegaly, Aorti...	ORPHA:117
Radiation Proctitis	Abnormal vascular morphology, Arteritis, Abnormal gastrointestinal vascular morphology, Abnormali...	ORPHA:70475
Joubert Syndrome 3	Nephronophthisis, Highly arched eyebrow, Atrial septal defect, Stage 5 chronic kidney disease, Ce...	OMIM:608629
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Abnormal heart morphology, Intrauterine growth retardation, Neutropenia, Jaundice, Hemolytic-urem...	ORPHA:79282
T-Cell Immunodeficiency With Thymic Aplasia	Chronic otitis media, Chronic oral candidiasis, Lymphadenopathy, Thyroiditis, Decreased proportio...	ORPHA:83471
Arima Syndrome	Polyuria, Cirrhosis, Nephronophthisis, Hematuria, Hepatomegaly, Anemia, Tubulointerstitial fibros...	OMIM:243910
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Exertional dyspnea, Calf muscle hypertrophy, Sinus tachycardia, Limb-girdle muscle weakness, Cent...	OMIM:255160
Gaucher Disease, Perinatal Lethal	Purpura, Hepatomegaly, Anemia, Polyhydramnios, Respiratory distress, Petechiae, Decreased body we...	OMIM:608013
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Abnormal right ventricu...	ORPHA:3427
Fixed Subaortic Stenosis	Exertional dyspnea, Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, B...	ORPHA:3092
Leptospirosis	Optic neuritis, Skin rash, Pericarditis, Elevated serum transaminases during infections, Acute ki...	ORPHA:509
Acquired Idiopathic Sideroblastic Anemia	Normochromic anemia, Anemia of inadequate production, Bone marrow hypocellularity, Splenomegaly, ...	ORPHA:75564
Mucolipidosis Type Ii	Cardiomyopathy, Kyphosis, Abnormal mitral valve morphology, Splenomegaly, Left ventricular hypert...	ORPHA:576
Muscular Dystrophy, Duchenne Type	Hypoventilation, Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf mus...	OMIM:310200
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	3-Methylglutaconic aciduria, Ankle flexion contracture, Short stature, Rhabdomyolysis, Dilated ca...	OMIM:618120
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Spinal rigidity, Exertional dyspnea, Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-g...	OMIM:181350
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy, Distal lower limb muscle weakness, Leg muscle stiffness	ORPHA:320360
Gallbladder Disease 1	Jaundice, Pancreatitis, Cholangitis, Cholelithiasis, Elevated circulating hepatic transaminase co...	OMIM:600803
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Kyphoscoliosis, Frontal balding, Truncal obesity, Flexion contracture of digit, Thoracic kyphosis...	ORPHA:3041
Severe Combined Immunodeficiency, X-Linked	Chronic oral candidiasis, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutini...	OMIM:300400
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Tachypnea, Decreased body weight	OMIM:620085
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Skin rash, Arthritis, Leukocytosis, Lymphoma, ...	ORPHA:37748
Classic Mycosis Fungoides	Hepatomegaly, Lymphadenopathy, Skin rash, Abnormal lymphocyte morphology, Neoplasm of the skin, L...	ORPHA:2584
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Generalized limb muscle atrophy, Ragged-red muscle fibers, Hyperlordosis, Scapul...	OMIM:600462
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication, Short tibia	OMIM:188740
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis, Limb muscle weakness, Decreased muscle mass, Type 1 muscle fiber predom...	OMIM:603034
Gaucher Disease, Type I	Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Vertebral compression fracture,...	OMIM:230800
Laryngeal Neuroendocrine Tumor	Exertional dyspnea, Adrenocorticotropic hormone excess, Neoplasm of the larynx, Chronic noninfect...	ORPHA:100083
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Palpebral edema, Splenomegaly, Sparse hair, Heart murmur, Cardiomegaly, Umbilica...	OMIM:252500
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Amelogenesis imperfecta, Inguinal hernia, Scoliosis, Hyperlordosis, Short stature...	OMIM:618363
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Hyperlordosis, Camptodactyly, Curly hair, Growth delay, Enamel hypo...	OMIM:619980
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Leukopenia, Splenomegaly, Lymphopenia, Myopathy, Varicose ve...	OMIM:612541
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Megaloblastic anemia, Lethargy	OMIM:236270
Renal Hypoplasia, Bilateral	Anemia, Decreased glomerular filtration rate, Small for gestational age, Hypertension, Vesicouret...	ORPHA:97362
Congenital Myopathy 10B, Mild Variant	Increased endomysial connective tissue, Generalized limb muscle atrophy, Type 1 and type 2 muscle...	OMIM:620249
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Abnormality of chromosome stability, Intrauterine growth retardatio...	OMIM:600546
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Camurati-Engelmann Disease	Delayed puberty, Abnormal subcutaneous fat tissue distribution, Hepatomegaly, Anemia, Abnormality...	ORPHA:1328
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Spinal rigidity, Wolff-Parkinson-White syndrome, Proximal muscle weakness in ...	OMIM:619566
D-Bifunctional Protein Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Polyhydramnios, Cholestasi...	OMIM:261515
Polycythemia Vera	Acute leukemia, Gastrointestinal hemorrhage, Hepatomegaly, Thrombocytosis, Angina pectoris, Strok...	ORPHA:729
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Nail dystrophy, Polyhydramnios, Alopecia of scalp, Rectal abscess, P...	ORPHA:436252
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Hypercholesterolemia, Elevated circulating alanine amino...	OMIM:619868
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	T lymphocytopenia, Recurrent sinusitis, Leukopenia, Lymphopenia, Abnormally low T cell receptor e...	OMIM:618986
Hemochromatosis, Type 3	Cirrhosis, Purpura, Anemia, Elevated circulating hepatic transaminase concentration, Arthritis, C...	OMIM:604250
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Elevated alkaline phosphatase of bone origin, Distal amyotrophy, Rimmed vacuoles, Scapular wingin...	OMIM:167320
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Neonatal Lupus Erythematosus	Aplastic anemia, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, ...	ORPHA:398124
Autoimmune Polyendocrinopathy Type 3	Aplasia/Hypoplasia of the spleen, Abnormal pulmonary interstitial morphology, Non-caseating epith...	ORPHA:227982
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Muscular dystrophy, Atelectasis, Recurrent lower respiratory tract infections, R...	ORPHA:258
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normochromic anemia, Splenomegaly, Abnormal mast cell morphology, Normocytic anemia, Acute myeloi...	ORPHA:98849
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Recurrent otitis media, Fluctuating splenomegaly, Lymphadenopathy, R...	OMIM:619220
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Muscular dystrophy, Calf muscle hypertrophy, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, EM...	OMIM:606612
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Joint contracture of the 5th finger, Highly arched eyebrow, Scoliosis, Kyphosis,...	ORPHA:352490
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Lipoatrophy, Hypertension, Splenomegaly, Hepatic steatosis, Myopathy, Coron...	ORPHA:79083
Mucopolysaccharidosis, Type Iiic	Kyphoscoliosis, Beaking of vertebral bodies, Coarse hair, Hepatomegaly, Hirsutism, Asymmetric sep...	OMIM:252930
Familial Partial Lipodystrophy, Dunnigan Type	Hypertriglyceridemia, Congestive heart failure, Lipoatrophy, Hepatomegaly, Pancreatitis, Abnormal...	ORPHA:2348
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Abnormal intervertebral disk morphology, Hip osteoarthritis, Abnormality of the vertebral column,...	ORPHA:99642
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Hypertension, Left ventricular hypertrophy, Bicuspid aortic valve, Bilater...	OMIM:220111
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia, ...	OMIM:620475
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemoph...	OMIM:613101
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Muscle fiber splitting, Ankle flexion contracture, Scoliosis, Hyperlordosis, Calf muscle hypertro...	OMIM:617760
Temporal Arteritis	Retinal arteritis	OMIM:187360
Aredyld Syndrome	Lipoatrophy, Hepatomegaly, Cachexia, Scoliosis, Refractory anemia with ringed sideroblasts, Abnor...	ORPHA:1133
Postinfectious Vasculitis	Hypertension, Cardiomyopathy, Palpable purpura, Bacterial endocarditis, Viral hepatitis, Recurren...	ORPHA:48435
Pulmonary Non-Tuberculous Mycobacterial Infection	Pneumothorax, Lymphadenopathy, Respiratory distress, Pleural effusion, Dyspnea, Pericardial effus...	ORPHA:411703
Takayasu Arteritis	Arteritis	OMIM:207600
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hype...	OMIM:252010
Anencephaly 2	Anophthalmia	OMIM:619452
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Sud...	ORPHA:159
Mucopolysaccharidosis Type 6	Chronic otitis media, Hernia, Abnormal heart valve morphology, Kyphosis, Sinusitis, Mucopolysacch...	ORPHA:583
Proteus Syndrome	Kyphoscoliosis, Venous malformation, Lipoma, Hemangioma, Spinal canal stenosis, Lymphangioma, Spl...	OMIM:176920
Myopathy, Centronuclear, 2	Scoliosis, Hyperlordosis, Scapular winging, EMG: myopathic abnormalities, Kyphosis, Facial palsy,...	OMIM:255200
Mucopolysaccharidosis, Type Ii	Kyphosis, Dermatan sulfate excretion in urine, Severe short stature, Splenomegaly, Umbilical hern...	OMIM:309900
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Failure to thrive, Cardiomyopathy	OMIM:619651
Myasthenic Syndrome, Congenital, 14	Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis, Hyperlordosis, Scapular wing...	OMIM:616228
Bare Lymphocyte Syndrome, Type Ii	Neutropenia, Cholangitis, Recurrent lower respiratory tract infections, Chronic mucocutaneous can...	OMIM:209920
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Hurler Syndrome	Cardiomyopathy, Kyphosis, Dermatan sulfate excretion in urine, Biconcave vertebral bodies, Enlarg...	OMIM:607014
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Superficial dermal perivascula...	OMIM:620632
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Primary Biliary Cholangitis	Gastrointestinal inflammation, Xanthelasma, Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypote...	ORPHA:186
Immunodeficiency, Common Variable, 8, With Autoimmunity	Chronic neutropenia, Recurrent sinusitis, Splenomegaly, Erythema nodosum, Pancytopenia, Thyroidit...	OMIM:614700
Ck Syndrome	Scoliosis, Hyperlordosis, Kyphosis, Slender build	OMIM:300831
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating...	ORPHA:367
Myasthenia Gravis	Myositis, Dyspnea, Rheumatoid arthritis, Hashimoto thyroiditis, Glycosuria, Pure red cell aplasia...	ORPHA:589
Tetanus	Bradycardia, Respiratory distress, Hypertension, Elevated urinary epinephrine level, Elevated uri...	ORPHA:3299
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline	OMIM:615761
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Intellectual Developmental Disorder, X-Linked 82	Scoliosis, Kyphosis	OMIM:300518
Immunodeficiency 32B	Hepatomegaly, Anemia, Bronchiectasis, Sinusitis, Eosinophilia, Failure to thrive, Neutrophilia, T...	OMIM:226990
Granulomatosis With Polyangiitis	Chronic otitis media, Gastrointestinal hemorrhage, Inflammatory abnormality of the eye, Skin rash...	ORPHA:900
Castleman Disease	Jaundice, Hematuria, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyop...	ORPHA:160
Yao Syndrome	Pleuritis, Arthritis, Skin rash, Ventricular hypertrophy, Xerostomia, Nephrolithiasis, Pericardit...	OMIM:617321
Chronic Pneumonitis Of Infancy	Mediastinal lymphadenopathy, Intercostal retractions, Respiratory distress, Failure to thrive, Ta...	ORPHA:91359
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly, Right a...	OMIM:306955
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Macrocytic anemia, Hypotension, A...	ORPHA:199299
Methionine Malabsorption Syndrome	Tachypnea, White hair, Aminoaciduria	OMIM:250900
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Cholestasis, Short stature, Failure to thrive, Splenomegaly, Neoplasm	ORPHA:172
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Kyphosis, T lymphocytopenia, Mitral valve prolapse, Lymphopenia, Hypereosinophilia, Cervical spin...	ORPHA:508533
Glycogen Storage Disease Ii	Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Urinary incontinence, Hepatome...	OMIM:232300
Microcephaly-Micromelia Syndrome	Oligodactyly, Missing ribs, Micromelia, Forearm undergrowth, Humeroradial synostosis, Micrognathi...	OMIM:251230
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ...	OMIM:600901
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis...	ORPHA:3208
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Elevated circulating hepatic transaminase concen...	ORPHA:79095
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Klippel-Trénaunay Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Hepatomegaly, Hematuria, Abnormal tricuspi...	ORPHA:90308
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Prolidase Deficiency	Diffuse telangiectasia, Hepatomegaly, Anemia, Facial hirsutism, Petechiae, Low posterior hairline...	OMIM:170100
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Ascites, Splenomegaly, Prolo...	ORPHA:75565
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Left ventricular outflow tra...	ORPHA:308552
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re...	ORPHA:183675
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ...	OMIM:227645
Lysosomal Acid Lipase Deficiency	Decreased liver function, Xanthelasma, Hypertriglyceridemia, Steatorrhea, Elevated circulating he...	ORPHA:275761
Immunodeficiency 56	Cirrhosis, Recurrent otitis media, Cholangitis, Bronchiectasis, Failure to thrive, Recurrent sinu...	OMIM:615207
Pearson Marrow-Pancreas Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Complex organic aciduria, P...	OMIM:557000
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Hydrops fetalis, Polycystic kidney dysplasia, Ascites, Kyphosis, Hypocholesterolemi...	OMIM:608776
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Short stature, Camptodactyly, Kyphosis, Arrhythmia	OMIM:618453
Cataract-Intellectual Disability-Hypogonadism Syndrome	Scoliosis, Hyperlordosis, Low posterior hairline, Short stature, Cryptorchidism, Hypogonadotropic...	ORPHA:1387
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Skin rash, Short stature, Enterocolitis, Failure to thrive, Thrombocytopeni...	OMIM:616050
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Crohn's disease, Acute pancreatitis, Ly...	OMIM:618935
Immunodeficiency 114, Folate-Responsive	Hypertriglyceridemia, Postnatal growth retardation, Hepatomegaly, Recurrent lower respiratory tra...	OMIM:620603
Cartilage-Hair Hypoplasia	Biconvex vertebral bodies, Disproportionate short-limb short stature, Abnormal form of the verteb...	ORPHA:175
Mccune-Albright Syndrome	Hepatocellular adenoma, Cholestasis, Bone marrow hypocellularity, Ovarian cyst, Increased circula...	ORPHA:562
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Cohen Syndrome	Delayed puberty, Childhood-onset truncal obesity, Decreased response to growth hormone stimulatio...	OMIM:216550
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pulmonary insufficiency, Jaundice, Recurrent respiratory infections, Pancreatic cysts, Renal cyst...	OMIM:208500
Nephroblastoma	Hematuria, Lymphadenopathy, Hypertension, Neoplasm of the lung, Weight loss, Neoplasm, Nephroblas...	ORPHA:654
Nocardiosis	Pericarditis, Cellulitis, Thyroiditis, Dyspnea, Weight loss, Conjunctivitis, Pneumonia, Scleritis...	ORPHA:31204
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Polyhydramnios, Glabellar hemangioma, Atop...	OMIM:618624
Heart Defects-Limb Shortening Syndrome	Disproportionate short stature, Abnormal tricuspid valve morphology, Abnormal form of the vertebr...	ORPHA:1354
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Prolonged QTc interval, Malar rash, Petechiae, Dyspnea, Pericarditis, Pericard...	ORPHA:231111
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Butterfly vertebrae, Patent foramen ovale, Hyperlordosis, Scoliosis, Scapular winging, Tricuspid ...	OMIM:618870
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Obesity, Hypertrophic cardiomyopathy	OMIM:620270
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Skin rash, Hypertension, Cholestasis, Nephrotic syndrome, Proteinuria, S...	OMIM:105200
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Skin...	OMIM:619924
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Lethargy	OMIM:500007
Mucopolysaccharidosis Type 1	Chronic otitis media, Congestive heart failure, Abnormal aortic valve morphology, Inguinal hernia...	ORPHA:579
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Cardiomyopathy, Pulmonary arterial hypertension, Neonatal...	OMIM:619003
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular vol...	ORPHA:232
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Gastrointestinal hemorrhage, Decreased glomerular filtration rate, Tubu...	ORPHA:85450
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosida...	OMIM:230350
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Hyperlipidemia, Abnormality of the shoulder girdle musculature, Skeletal myopathy...	ORPHA:565612
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Jaundice, Elevated circulating hepatic transaminase concentration, Ca...	OMIM:616483
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Hypertension, Lymphadenitis, Leukocytosis, Apnea, Proteinuria, Cereb...	OMIM:618886
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Hypertension, Cholestasis, Ascites, Hodgkin lymphoma, Lymphopenia, Intraute...	OMIM:619573
Fanconi Anemia, Complementation Group G	Anemia, Abnormality of chromosome stability, Growth delay, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Large for gestational age, Hepatomegaly, Elevated circulating hepatic transaminase concentration,...	ORPHA:263455
Crigler-Najjar Syndrome	Abnormality of the liver, Jaundice, Lethargy, Infectious encephalitis	ORPHA:205
Immunodeficiency 95	Respiratory distress, Recurrent viral upper respiratory tract infections, Recurrent viral pneumon...	OMIM:619773
Hsd10 Disease, Neonatal Type	Abnormality of the liver, Abnormal concentration of acylcarnitine in the urine, Hypertrophic card...	ORPHA:391457
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Finger symphalangism, Contracture of the proximal interphalangeal joint of the 4th finger, Absent...	OMIM:612576
Alpha-Mannosidosis	Chronic otitis media, Hepatomegaly, Inguinal hernia, Arthritis, Scoliosis, Kyphosis, Splenomegaly...	ORPHA:61
Pontocerebellar Hypoplasia, Type 6	Failure to thrive, Apnea, Elbow contracture, Lethargy	OMIM:611523
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Cholestasis, Splen...	OMIM:614576
Combined Oxidative Phosphorylation Deficiency 10	Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardat...	OMIM:614702
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hydrops fetalis, Platyspondyly, Hypospadias, Polyhydramnios, Pleural effusion, Ascites, Hypertrop...	OMIM:616897
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Petechiae, Vasculitis, Nephritis, Autoimmune thrombocy...	OMIM:603909
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis, Flexion contr...	OMIM:602782
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Reduced hepatic N-acetylglutamate synthase activity, Failure to thrive, Tac...	OMIM:237310
Mulchandani-Bhoj-Conlin Syndrome	Scoliosis, Hyperlordosis, Failure to thrive, Severe short stature, Intrauterine growth retardatio...	OMIM:617352
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Stillbirth, Truncu...	OMIM:615415
Tibial Aplasia-Ectrodactyly Syndrome	Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem...	ORPHA:3329
Essential Thrombocythemia	Acute leukemia, Abnormal bleeding, Transient ischemic attack, Leukocytosis, Myelodysplasia, Abnor...	ORPHA:3318
Syndromic Diarrhea	Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic valve, Intrauterine growth ...	ORPHA:84064
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ...	OMIM:227650
Serotonin Syndrome	Acute kidney injury, Hypertension, Hypotension, Rhabdomyolysis, Tachycardia, Tachypnea, Hepatic f...	ORPHA:43116
Joubert Syndrome 37	Hepatomegaly, Decreased testicular size, Short stature, Obesity, Hydronephrosis, Sparse hair, Cry...	OMIM:619185
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Congenital Gerbode Defect	Elevated right atrial pressure, Left-to-right shunt, Pulmonic stenosis, Constrictive pericarditis...	ORPHA:99095
Multiple Epiphyseal Dysplasia, Lowry Type	Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy...	ORPHA:166016
Cronkhite-Canada Syndrome	Aplasia/Hypoplasia of the eyebrow, Dystrophic fingernails, Hepatomegaly, Anemia, Intestinal polyp...	ORPHA:2930
Cirrhosis, Familial	Cirrhosis, Jaundice, Fulminant hepatitis, Hypertension, Ascites, Pulmonary arterial hypertension,...	OMIM:215600
Optic Atrophy 1	Pallor	OMIM:165500
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Malignant Hyperthermia Of Anesthesia	Acute rhabdomyolysis, Acute kidney injury, Abnormality of masseter muscle, Cardiomyocyte mitochon...	ORPHA:423
Pseudodiastrophic Dysplasia	Rhizomelia, Scoliosis, Camptodactyly, Hypoplasia of the odontoid process, Severe short stature, T...	OMIM:264180
Bile Acid Synthesis Defect, Congenital, 4	Prolonged prothrombin time, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevate...	OMIM:214950
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Skin rash, Leukocytosis, Failure to thrive, Hepatosplenom...	OMIM:618963
Bronchogenic Cyst	Bronchogenic cyst, Abnormality of the diaphragm, Atelectasis, Abnormal peritoneum morphology, Abn...	ORPHA:2357
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Crohn's disease, Optic neuritis, Splenomegaly, Psoriasiform dermatitis, Thyroiditis, Atopic derma...	ORPHA:436159
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Widening of cervical spinal canal, Fusion of midcervical facet joints, Cardiomyopathy, Dyspnea, N...	OMIM:606842
Three M Syndrome 1	Postnatal growth retardation, Increased vertebral height, Hypospadias, Spina bifida occulta, Hype...	OMIM:273750
Spondyloepimetaphyseal Dysplasia, Shohat Type	Squared-off platyspondyly, Disproportionate short stature, Abnormal vertebral morphology, Vertebr...	ORPHA:93352
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Facial myokymia, Kyphosis, Short stature, Failure to thrive, Eczematoid dermatitis	OMIM:620007
Generalized Pseudohypoaldosteronism Type 1	Recurrent tonsillitis, Cholelithiasis, Dehydration, Hypovolemic shock, Atopic dermatitis, Glucoco...	ORPHA:171876
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Scoliosis, Membranous subvalvular aortic stenosis, Kyphosis, Short stature, Bili...	ORPHA:3191
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Achilles tendon contracture, Hyperlordosis, Thoracic scoliosis	ORPHA:62
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Muscle fiber splitting, Hyperlordosis, Scapular winging, Back pain, Increased variability in musc...	OMIM:618129
Immunodeficiency 7	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Lymp...	OMIM:615387
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Depression, Cardiomyopathy, Elevated circulating alanine amino...	OMIM:300842
Trisomy 13	Atrial septal defect, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular s...	ORPHA:3378
Microphthalmia With Limb Anomalies	Sandal gap, Short long bone, Tibial bowing, Broad thumb, Joint hypermobility, Hip dislocation, Fi...	ORPHA:1106
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Anemia, Respiratory distress, Chylothorax, Lymphedema, Pleural eff...	OMIM:617300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, T lymphocytopenia, Recurrent as...	ORPHA:79124
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100080
Meckel Syndrome, Type 1	Vascular dilatation, Accessory spleen, Polycystic kidney dysplasia, Abnormality of the ureter, As...	OMIM:249000
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Osteoarthritis, Arrhythmia, Hepatic steatosis	OMIM:606069
Noonan Syndrome 8	Large for gestational age, Polyhydramnios, Patent ductus arteriosus, Pleural effusion, Hypertroph...	OMIM:615355
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut...	OMIM:620376
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymph...	OMIM:214900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Congestive heart failure, Disproportionate short stature, Recurrent otitis media, Urinary inconti...	OMIM:616482
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Urinary incontinence, Cardiomyopathy, Stroke-like episode, Orthostatic hypotensi...	OMIM:105210
Multiple Endocrine Neoplasia Type 2	Kyphoscoliosis, Elevated urinary vanillylmandelic acid, Multiple mucosal neuromas, Pheochromocyto...	ORPHA:653
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Hip osteoarthritis, Premature osteoarthritis, Short stature, Exostoses, Lumbar hyperlordosis	OMIM:165800
Immunodeficiency 22	Chronic oral candidiasis, Panniculitis, Anemia, Recurrent lower respiratory tract infections, Cap...	OMIM:615758
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Neuroendocrine Tumor Of Stomach	Hematemesis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Iron ...	ORPHA:100075
Hypochondroplasia	Childhood onset short-limb short stature, Abnormal form of the vertebral bodies, Scoliosis, Hyper...	ORPHA:429
Gollop-Wolfgang Complex	Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ...	ORPHA:1986
Meige Disease	Facial edema, Edema of the dorsum of hands, Pedal edema, Predominantly lower limb lymphedema, Var...	ORPHA:90186
Myopathy, Centronuclear, 1	Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle...	OMIM:160150
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Bradycardia, Cardiac arrest, Hypertrophic cardiomyopathy, Failure to thrive, Apnea	OMIM:618235
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Myopathy, Normoc...	OMIM:615512
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Allergic Bronchopulmonary Aspergillosis	Emphysema, Abnormal eosinophil morphology, Pulmonary arterial hypertension, Weight loss, Bronchie...	ORPHA:1164
Sézary Syndrome	Nail dystrophy, Hepatomegaly, Lymphadenopathy, Neoplasm of the skin, Abnormal lymphocyte morpholo...	ORPHA:3162
Lymphoproliferative Syndrome 2	Aplastic anemia, EBV encephalitis, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia,...	OMIM:615122
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Nail dystrophy, Abnormally low T cell receptor excision circle level, Atopic dermatitis, T lympho...	OMIM:618806
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Lymphoma, Growth delay, Splenomegaly, Alopecia	ORPHA:100025
Rift Valley Fever	Hematemesis, Abnormal bleeding, Jaundice, Hematuria, Melena, Anemia, Elevated circulating hepatic...	ORPHA:319251
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology, Weight loss, Arrhythmia, Atrioventricula...	ORPHA:85447
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic tran...	ORPHA:131
Congenital Rubella Syndrome	Jaundice, Hepatomegaly, Anemia, Skin rash, Short stature, Thrombocytopenia, Splenomegaly, Patent ...	ORPHA:290
Thymoma	Aplastic anemia, Neoplasm of the thyroid gland, Prostate neoplasm, Myositis, Neoplasm of head and...	ORPHA:99867
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemoly...	OMIM:615010
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Severe Canavan Disease	Lethargy	ORPHA:314911
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Recurrent lower respiratory tract ...	ORPHA:169154
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathioninuria, Megal...	OMIM:277400
Oculopharyngodistal Myopathy	Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim...	ORPHA:98897
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Trichothiodystrophy 6, Nonphotosensitive	Pes cavus, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemoglobin, D...	OMIM:616943
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Platyspondyly, Rhizomelic arm shortening, Atrioventricular block, Arrhythmia, Dispro...	ORPHA:93317
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated circulating hepatic transaminase concentration, Skin rash, Hypertension, Bone marrow hyp...	OMIM:615688
Muckle-Wells Syndrome	Delayed puberty, Hepatomegaly, Anemia, Recurrent aphthous stomatitis, Vasculitis, Skin rash, Arth...	ORPHA:575
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hypoventilation, 3-Methylglutaconic aciduria, Jaundice, Hepatomegaly, Aciduria, Elevated circulat...	OMIM:203700
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Limb hypertonia...	OMIM:613489
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis, Scapular winging, Facial palsy, Nemaline bodies, Increased variability ...	OMIM:616852
Blau Syndrome	Skin rash, Hypertension, Pericarditis, Splenomegaly, Erythema nodosum, Stage 5 chronic kidney dis...	ORPHA:90340
Congenital Disorder Of Glycosylation, Type Ie	Muscular dystrophy, Ankle flexion contracture, Hepatomegaly, Elevated circulating hepatic transam...	OMIM:608799
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Foam cells, Elevated circulating alanine aminotransferase conc...	OMIM:269600
Insulinoma	Neuroendocrine neoplasm, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparat...	ORPHA:97279
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Pediatric Systemic Lupus Erythematosus	Skin rash, Discoid lupus rash, Ascites, Increased circulating lactate dehydrogenase concentration...	ORPHA:93552
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Cap Myopathy	Lower limb amyotrophy, Aortic root aneurysm, Sinus tachycardia, Facial palsy, Reduced systolic fu...	ORPHA:171881
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:615119
Orofaciodigital Syndrome Iv	Short finger, Foot polydactyly, Postaxial polydactyly, Hand polydactyly, Micrognathia, Brachydact...	OMIM:258860
Hypophosphatemic Rickets, X-Linked Dominant	Rickets, Hypophosphatemic rickets, Fibular bowing, Genu valgum, Cupped metaphyses of hand bones, ...	OMIM:307800
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Osteoarthritis of the elbow, Pleuritis, Knee osteoarthritis, Ascites, Camptodactyly of toe, Peric...	ORPHA:2848
Mirage Syndrome	Anemia, Hypospadias, Patent ductus arteriosus, Petechiae, Scoliosis, Decreased body weight, Aspir...	OMIM:617053
Schwartz-Jampel Syndrome	Spinal rigidity, Flexion contracture of toe, Cachexia, Hyperlordosis, Abnormally ossified vertebr...	ORPHA:800
Parastremmatic Dwarfism	Scoliosis, Kyphosis, Severe short stature, Flexion contracture, Short neck	OMIM:168400
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Macrovesicular hepatic steatosis, Hypercholesterolemia, Coronary artery ath...	ORPHA:209902
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Decreased methylmalonyl-CoA mutase activity, Hepato...	OMIM:251100
Mucolipidosis Iii Gamma	Aortic regurgitation, Claw hand deformity, Shoulder contracture, Scoliosis, Hyperlordosis, Kyphos...	OMIM:252605
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis	OMIM:616176
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Fused cervical vertebrae, Hypospadias, Hyperlordosis, Kyphosis, Abnormality of the ureter, Short ...	ORPHA:2522
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Alopecia of scalp, Hepatomegaly, Decreased testicular size, Failure to thrive, Short stature, Spl...	OMIM:201100
Immunodeficiency 50	Recurrent respiratory infections, Neutropenia, Lymphopenia, Eczematoid dermatitis	OMIM:300988
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Panniculitis, Anemia, Lymphadenopathy, Elevated circulating h...	OMIM:617591
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Recurrent bronc...	OMIM:312863
Gray Platelet Syndrome	Abnormal bleeding, Thrombocytopenia, Epistaxis, Splenomegaly, Bruising susceptibility, Myelodyspl...	ORPHA:721
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Dyspnea,...	ORPHA:1344
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Decreased liver function, Congestive heart failure, Hypopigmentation of hair, Abnormal circulatin...	ORPHA:70472
Diffuse Alveolar Hemorrhage	Hematuria, Anemia, Dyspnea, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Pulmonary f...	ORPHA:90060
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation, Intrauterine growth retardation, Atrial septal defect, Ventr...	OMIM:611134
Sarcoidosis	Decreased liver function, Increased T cell count, Nephrocalcinosis, Leukopenia, Erythema nodosum,...	ORPHA:797
Fetal Parvovirus Syndrome	Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr...	ORPHA:295
Neurodegeneration And Seizures Due To Copper Transport Defect	Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration, Tric...	OMIM:620306
Familial Thrombocytosis	Abnormal bleeding, Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonar...	ORPHA:71493
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Hypertriglyceridemia, Lipoatrophy, Precocious atherosclerosis, Splenom...	ORPHA:280365
Immunodeficiency 31C	Autoimmune hemolytic anemia, Chronic oral candidiasis, Delayed puberty, Hepatomegaly, Impaired ly...	OMIM:614162
Typical Nemaline Myopathy	Nocturnal hypoventilation, Spinal rigidity, Polyhydramnios, Scoliosis, Hyperlordosis, Facial dipl...	ORPHA:171436
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Melena, Hypotension, Tricu...	ORPHA:100082
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Chronic oral candidiasis, Nail dystrophy, Hypoparathyroidism, Cholelithiasis, Chronic active hepa...	OMIM:240300
Atelosteogenesis, Type Ii	Stillbirth, Increased intervertebral space, Scoliosis, Horizontal sacrum, Coronal cleft vertebrae...	OMIM:256050
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Congestive heart failure, Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentr...	OMIM:617156
Microscopic Polyangiitis	Congestive heart failure, Gastrointestinal hemorrhage, Pancreatitis, Hematuria, Renal insufficien...	ORPHA:727
Familial Mediterranean Fever	Hepatomegaly, Pleuritis, Crohn's disease, Arthritis, Pleural effusion, Leukocytosis, Nephrotic sy...	OMIM:249100
Sarcoidosis, Susceptibility To, 1	Splenomegaly, Enlarged lacrimal glands, Pancytopenia, Dyspnea, Pulmonary arterial hypertension, E...	OMIM:181000
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Pelvic mass, Abnormal bleeding, Neoplasm of the pancreas, Pancreatitis, Jaundi...	ORPHA:370348
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Increased urinary glycerol, Dyspnea, Reduced tissue fructose-1,6-bisphosphatase act...	OMIM:229700
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Wolman Disease	Hepatomegaly, Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, S...	OMIM:620151
Intellectual Disability And Myopathy Syndrome	Left ventricular systolic dysfunction, Scoliosis, Atopic dermatitis, Achilles tendon contracture,...	OMIM:619719
Acute Monoblastic/Monocytic Leukemia	Exertional dyspnea, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Increased circ...	ORPHA:514
Immunodeficiency 36 With Lymphoproliferation	Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr...	OMIM:616005
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Failure to thrive, Cardiomyopathy, Splenomegaly, Macrocytic anemia	OMIM:619046
Barth Syndrome	Congestive heart failure, 3-Methylglutaconic aciduria, Neutropenia, Hypochromic microcytic anemia...	OMIM:302060
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypertriglyceridemia, Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopen...	OMIM:619313
Pyruvate Carboxylase Deficiency	Hepatomegaly, Dehydration, Growth delay, Failure to thrive, Abnormal pattern of respiration, Tach...	ORPHA:3008
Autoimmune Polyendocrine Syndrome, Type Ii	Cirrhosis, Steatorrhea, Iron deficiency anemia, Chronic mucocutaneous candidiasis, Keratoconjunct...	OMIM:269200
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology, Ascites, Inflammation of the large intestine, We...	ORPHA:26790
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, T lymphocytopenia, Bone marro...	ORPHA:443811
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Hypertension, Elevated circulating alanine aminotransfe...	OMIM:614034
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Patent foramen ovale, Dyspnea, Hypertrophic cardiomyopathy, Elevated circulating al...	OMIM:614582
Yellow Nail Syndrome	Renal neoplasm, Yellow nails, Hypoplasia of lymphatic vessels, Pleuritis, Lymphedema, Dyspnea, Ne...	ORPHA:662
Myopathy, Myofibrillar, 7	Spinal rigidity, Urinary incontinence, Shoulder flexion contracture, Scoliosis, Enuresis nocturna...	OMIM:617114
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu...	OMIM:611556
Familial Thyroid Dyshormonogenesis	Bradycardia, Prolonged neonatal jaundice, Umbilical hernia, Goiter, Facial edema, Macroglossia, L...	ORPHA:95716
Sickle Cell Disease	Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Stroke, Hypertension, Leukocytosis, Splenic in...	OMIM:603903
Central Diabetes Insipidus	Depression, Dehydration, Failure to thrive, Nocturia, Weight loss, Lethargy	ORPHA:178029
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Exertional dyspnea, Descending thoracic aorta aneurysm, Abnormality of connective tissue, Hyperte...	ORPHA:91387
Myasthenic Syndrome, Congenital, 16	Apnea, Hyperlordosis	OMIM:614198
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Edema, Hepatic steatosis, Chondroc...	OMIM:277900
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial diplegia, Sternocleidomastoid amyotrophy, Hypertrophied muscle fibers, Edema, Type 1 muscl...	ORPHA:98905
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Distal amyotrophy, Sc...	ORPHA:435387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Platyspond...	OMIM:102700
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, 3-Methylglutaconic aciduria, Abnormal aortic valve morphology, Hepatome...	ORPHA:1194
Hepatoportal Sclerosis	Prolonged prothrombin time, Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Ja...	ORPHA:64743
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,...	ORPHA:100078
Ck Syndrome	Kyphoscoliosis, Slender build, Lumbar hyperlordosis	ORPHA:251383
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Basal cell ...	ORPHA:440437
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Depression, Decreased body weight, Short stature, Decreased beta-gluc...	OMIM:231000
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Short stature, Sideroblastic anem...	OMIM:249270
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to t...	OMIM:615440
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri...	ORPHA:251071
Bone Marrow Failure Syndrome 6	Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ...	OMIM:618849
Joubert Syndrome	Situs inversus totalis, Abnormal form of the vertebral bodies, Highly arched eyebrow, Scoliosis, ...	ORPHA:475
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Abnormal vertebral morphology, Anemia, Vasculitis, Skin rash, Arthritis, Abnormal sacroiliac join...	ORPHA:324964
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Calcinosis, Palpebral edema, Angina pectoris, Vasculitis, Skin rash,...	ORPHA:93672
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Cachexia, Dy...	ORPHA:60033
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Scoliosis, Nephropathy, Apnea, Tachypnea, Renal insufficiency	ORPHA:2318
Aicardi-Goutieres Syndrome 1	Purpura, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Vascul...	OMIM:225750
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Polyhydramnios, Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Spl...	ORPHA:1046
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Chronic oral candidiasis, Palpebral edema, Arteria lusoria, Unilateral renal agenesis, Arthritis,...	ORPHA:221139
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Pancreatitis, Anemia, Elevated circulating hepatic transaminase conc...	ORPHA:36426
Gm1 Gangliosidosis Type 1	Increased urinary galactosylated oligosaccharide, Beaking of vertebral bodies T12-L3, Hydrops fet...	ORPHA:79255
Laurin-Sandrow Syndrome	Triphalangeal thumb, Absent tibia, Fibular duplication, Broad foot, Hand polydactyly, Patellar ap...	OMIM:135750
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Petechiae, Hepatocellular ...	OMIM:619463
Alg1-Cdg	Decreased liver function, Scoliosis, Cardiomyopathy, Kyphosis, Nephrotic syndrome, Abnormal heart...	ORPHA:79327
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Medullary nephrocalcinosis, Nephrolithiasis, Dehydration, Failure to th...	OMIM:143880
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hydrops fetalis, Polyhydramnios, Hepatomegaly, Short stature, Splenomegaly, Aplasia/Hypoplasia of...	ORPHA:2204
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Lethargy, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Acute kidney injury, Abnormal bleeding, Prolonged QT interval, Sinus ta...	ORPHA:466650
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Vasculitis, Neutropenia in pre...	OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia, Pneumonia, Glomerulonephritis	OMIM:247800
3-Methylglutaconic Aciduria Type 7	Pneumothorax, 3-Methylglutaconic aciduria, Infection associated neutropenia, Elevated circulating...	ORPHA:445038
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste...	OMIM:601186
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Sclerosing cholangitis, Recurrent sinusitis, Reduced natural killer cell count, Allergic rhinitis...	OMIM:243700
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema, Edema	OMIM:178400
Indomethacin Embryofetopathy	Hydrops fetalis, Multicystic kidney dysplasia, Renal insufficiency, Cardiomyopathy, Oligohydramni...	ORPHA:1909
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Cheilitis, Hematuria, Abnormal dental enamel morphology, Skin ra...	ORPHA:1334
Febrile Infection-Related Epilepsy Syndrome	Sinusitis, Lethargy	ORPHA:163703
Coenzyme Q10 Deficiency, Primary, 7	Bradycardia, Scoliosis, Hypertrophic cardiomyopathy, Patent ductus arteriosus, Intrauterine growt...	OMIM:616276
Endocardial Fibroelastosis	Congestive heart failure, Anterior hypopituitarism, Hypoplasia of penis, Restrictive cardiomyopat...	ORPHA:2022
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card...	OMIM:301075
Wieacker-Wolff Syndrome	High anterior hairline, Congenital foot contractures, Scoliosis, Hyperlordosis, Distal amyotrophy...	OMIM:314580
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cirrhosis, Jaundice, Pancreatitis, Elevated circulating hepatic transa...	ORPHA:65682
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Refractory anemia with ringed sideroblasts, Thrombo...	OMIM:133180
Fetal Gaucher Disease	Stillbirth, Hepatomegaly, Hydrops fetalis, Pancytopenia, Neonatal death, Thrombocytopenia, Abnorm...	ORPHA:85212
Wolman Disease	Steatorrhea, Hepatomegaly, Anemia, Cachexia, Bone-marrow foam cells, Ascites, Growth delay, Splen...	ORPHA:75233
Borjeson-Forssman-Lehmann Syndrome	Delayed puberty, Cervical spinal canal stenosis, Scoliosis, Kyphosis, Short stature, Obesity, Sch...	OMIM:301900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Rickets, Fibular bowing, Delayed epiphyseal ossification, Hypocalcemia, Enlargement of the ankles...	OMIM:600081
Multiple Endocrine Neoplasia Type 1	Hematemesis, Neoplasm of the pancreas, Pheochromocytoma, Hypertension, Pituitary growth hormone c...	ORPHA:652
Xeroderma Pigmentosum, Complementation Group F	Short stature, Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-...	OMIM:278760
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal intervertebral disk morphology, Abnormal heart valve morpholog...	ORPHA:1345
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Recurrent aphthous stomatitis, Lymphadenopathy, B lymphocytopenia, Recu...	OMIM:150550
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Wiskott-Aldrich Syndrome	Chronic otitis media, Hematemesis, Spontaneous hematomas, Sinusitis, Epistaxis, Hematochezia, Abn...	ORPHA:906
Meckel Syndrome, Type 6	Renal cyst, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease, Absent gallbladd...	OMIM:612284
T-Cell Immunodeficiency With Thymic Aplasia	Pyoderma, Emphysema, Abnormally low T cell receptor excision circle level, Lymphopenia, Recurrent...	OMIM:242700
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Generalized lipodystrophy, Hirsutism, S...	OMIM:612526
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Hypoplasia ...	OMIM:184250
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Hyperlordosis, Short stature, Bicuspid aortic valve, Ventricular se...	OMIM:617450
Erythrokeratodermia Variabilis	Abnormal hair morphology, Skin rash, Neoplasm of the skin, Abnormal testis morphology, Short stat...	ORPHA:317
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Ketonuria, Elevated urine acetoacetic acid level, Jaundice, Elevated urine suberic acid level, Ta...	OMIM:615751
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Short stature, Thoracolumbar scolios...	OMIM:618443
Fusariosis	Sinusitis, Granuloma, Lymphopenia, Cellulitis, Neutropenia, Hypersensitivity pneumonitis, Pneumon...	ORPHA:228119
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Scoliosis, Cardiomyopathy, Ethylmalonic aciduria, Failure to thrive, Flexion contracture, Weaknes...	OMIM:201470
Systemic Lupus Erythematosus 17	Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Leukopenia, Raynaud phenomenon, Thromb...	OMIM:301080
Shwachman-Diamond Syndrome	Aplastic anemia, Steatorrhea, Elevated circulating hepatic transaminase concentration, Macrocytic...	ORPHA:811
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat...	ORPHA:399058
Erdheim-Chester Disease	Congestive heart failure, Abnormal pulmonary interstitial morphology, Abnormal aortic valve morph...	ORPHA:35687
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Premature graying of hair, Nail dystrophy, Pancytopenia, Hepatic fibrosis, White...	OMIM:613989
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Abnormal bleeding, Dyspnea, Thrombocytopenia, Splenomegaly, Bruis...	ORPHA:231401
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Tapered finger, Camptodactyly, Pulmonic stenosis, Increased mean pla...	OMIM:616737
Koolen-De Vries Syndrome Due To A Point Mutation	Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spondylolisthesis, Hyperlordosis, Cardiomyopathy, Kyphosis, Pulmonic stenosis, Abnormal heart mor...	ORPHA:363958
Emanuel Syndrome	Congenital diaphragmatic hernia, Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Recurrent si...	OMIM:609029
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Small pituitary gland, Scoliosis, Inc...	ORPHA:398069
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased mean corpuscula...	ORPHA:3202
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Aortic regurgitation, Scoliosis, Hyperlordosis, Nephrolithiasis, Der...	OMIM:619698
Waldenström Macroglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Lymphaden...	ORPHA:33226
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Intrauterin...	OMIM:616198
Burkitt Lymphoma	Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnorma...	ORPHA:543
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Depression, Scoliosis, Bipolar affective disorder, Kyphosis, Short stature, Obesity	ORPHA:276630
Developmental And Epileptic Encephalopathy 35	Intrauterine growth retardation, Cardiomyopathy	OMIM:616647
Orofaciodigital Syndrome Type 6	Highly arched eyebrow, Hypothalamic hamartoma, Bilateral cryptorchidism, Short stature, Failure t...	ORPHA:2754
Congenital Heart Block	Pericardial effusion, Pallor, Patent foramen ovale, Endocardial fibroelastosis	ORPHA:60041
Martsolf Syndrome 1	Congestive heart failure, Inguinal hernia, Cardiac arrest, Cardiomyopathy, Low posterior hairline...	OMIM:212720
Dihydropyrimidinase Deficiency	Uraciluria, Elevated urinary dihydrothymine level, Elevated circulating aldolase concentration, E...	OMIM:222748
Goodpasture Syndrome	Exertional dyspnea, Anemia, Reticular pattern on pulmonary HRCT, Cylindruria, Hemosiderin-laden m...	OMIM:233450
Autosomal Recessive Centronuclear Myopathy	Abnormal heart valve morphology, Facial diplegia, Hyperlordosis, Scapular winging, Facial palsy, ...	ORPHA:169186
Robin Sequence With Cleft Mandible And Limb Anomalies	Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me...	OMIM:268305
Nphp3-Related Meckel-Like Syndrome	Abnormal liver parenchyma morphology, Polyhydramnios, Abnormal biliary tract morphology, Oligohyd...	ORPHA:3032
Agel Amyloidosis	Nail dystrophy, Blepharochalasis, Depression, Xerostomia, Cardiomyopathy, Abnormal spleen morphol...	ORPHA:85448
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Platyspondyly, Curly eyelashes, Congenital, gen...	OMIM:239850
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla...	OMIM:228930
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Pheochromocytoma, Hypertension, Increased body weight, Pulmonary carcino...	ORPHA:99889
Desbuquois Dysplasia 1	Disproportionate short-limb short stature, Scoliosis, Hyperlordosis, Kyphosis, Growth delay, Obes...	OMIM:251450
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated...	OMIM:609945
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Small pituitary gland, Hyperlordosis, Cholestasis, Thyroid hypoplasia, Hepa...	OMIM:619503
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Neutropenia, Anemia, Elevated circulating hepatic tran...	ORPHA:537
Myopathy, Myofibrillar, 6	Muscular dystrophy, Spinal rigidity, Knee flexion contracture, Scoliosis, Restrictive cardiomyopa...	OMIM:612954
Schwartz-Jampel Syndrome, Type 1	Kyphoscoliosis, Flexion contracture of toe, Wrist flexion contracture, Umbilical hernia, Quadrice...	OMIM:255800
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Postnatal growth retardation, Scoliosis, Hump-shaped mound of bone in central and posterior porti...	OMIM:313400
Multiple Mitochondrial Dysfunctions Syndrome 1	Hyperglycinuria, Alpha-aminoadipic aciduria, Pulmonary arterial hypertension, Failure to thrive, ...	OMIM:605711
Inflammatory Pseudotumor Of The Liver	Cirrhosis, Abnormal liver sonography, Elevated circulating alanine aminotransferase concentration...	ORPHA:90003
Developmental And Epileptic Encephalopathy 41	Kyphoscoliosis, Flexion contracture, Nephrocalcinosis, Lethargy	OMIM:617105
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Scoliosis, Hyperlordosis, Short stature	ORPHA:63446
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Elevated circulating alanine aminotransferase concentration, Failure to...	OMIM:620609
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Spinal rigidity, Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fract...	ORPHA:268
Pulmonary Arteriovenous Malformation	Ischemic stroke, Myocardial infarction, Liver abscess, Abnormal bleeding, Iron deficiency anemia,...	ORPHA:2038
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Short stature, Disproportionate short-limb short stature, Lumbar hyperlordosis	ORPHA:156728
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Intrauterine grow...	OMIM:618775
Anaplastic Thyroid Carcinoma	Lymphadenopathy, Respiratory distress, Anaplastic thyroid carcinoma, Abnormal skeletal muscle mor...	ORPHA:142
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Congestive heart failure, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Sk...	ORPHA:528
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cholestatic liver disease, Cirrhosis, Elevated circulating hepatic transaminase concentration, El...	ORPHA:562639
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Immunodeficiency 84	Perianal abscess, B-cell lymphoma, B lymphocytopenia, Splenomegaly	OMIM:619437
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Septic art...	ORPHA:449280
Pycnodysostosis	Decreased response to growth hormone stimulation test, Spondylolysis, Rhizomelia, Spondylolisthes...	ORPHA:763
Crisponi/Cold-Induced Sweating Syndrome 2	Thoracolumbar scoliosis, Lumbar hyperlordosis	OMIM:610313
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Depression, Increased circulating prolactin concentration, Pituitary hypothyroidism,...	ORPHA:90674
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Bronchitis, Patent foramen ovale, Pulmonary art...	OMIM:601005
Bloom Syndrome	Cheilitis, Bronchitis, Skin rash, Neoplasm of the skin, Malignant genitourinary tract tumor, Neop...	ORPHA:125
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Pallor, Atrial septal defect, Ventr...	OMIM:609053
Celiac Disease, Susceptibility To, 1	Prolonged prothrombin time, Delayed puberty, Steatorrhea, Postnatal growth retardation, Elevated ...	OMIM:212750
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis, Short sta...	OMIM:266265
Alström Syndrome	Hypertriglyceridemia, Urinary incontinence, Elevated circulating hepatic transaminase concentrati...	ORPHA:64
Glycogen Storage Disease Xii	Muscle fiber splitting, Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased ery...	OMIM:611881
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Short tibia, Camptodactyly	OMIM:258865
Propionic Acidemia	Hepatomegaly, Organic aciduria, Cardiomyopathy, Propionyl-CoA carboxylase deficiency, Arrhythmia	ORPHA:35
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Flexion contracture of finger, Type 1 m...	ORPHA:2020
Microlissencephaly	Pneumonia	ORPHA:1083
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy	ORPHA:30925
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Delayed puberty, Pneumonia, Recurrent otitis media, Pyoderma, Prostatitis, Decreased response to ...	OMIM:307200
Proteasome-Associated Autoinflammatory Syndrome 1	Premature graying of hair, Hypertriglyceridemia, Elevated circulating hepatic transaminase concen...	OMIM:256040
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Lymphedema, Recurrent pneumonia, Cardiomegaly, Oligosacchariduria	ORPHA:3137
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent aphthous stomatitis, Recurrent lower respiratory tract inf...	OMIM:614868
Oculoskeletodental Syndrome	Abnormality of the frontal hairline, Stroke, Scoliosis, Hyperlordosis, Thoracic kyphosis, Short s...	ORPHA:557003
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, Megaloblastic ane...	OMIM:277410
Kagami-Ogata Syndrome	Kyphoscoliosis, Hepatomegaly, Polyhydramnios, Inguinal hernia, Diastasis recti, Pulmonary arteria...	OMIM:608149
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Failure to thrive secondary to recurrent infections, Arthritis, B lymphocytopenia, T lymphocytope...	OMIM:601457
Spondyloepiphyseal Dysplasia Tarda	Kyphoscoliosis, Abnormally ossified vertebrae, Biconcave vertebral bodies, Scoliosis, Hump-shaped...	ORPHA:93284
Free Sialic Acid Storage Disease	Hepatomegaly, Hydrops fetalis, Ascites, Nephrotic syndrome, Splenomegaly, Proteinuria, Aplasia/Hy...	ORPHA:834
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Polyhydramnios, Long eyebrows, Hypertrophic cardiomyopathy, Low...	OMIM:613224
Thymic Neuroendocrine Tumor	Neoplasm of the endocrine system, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Abn...	ORPHA:97289
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Exertional dyspnea, Aortic regurgitation, Patent ductus...	ORPHA:229
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hypospadias, Scoliosis, Hyperlipidemia, Kyphosis, Arthrogryposis multiplex ...	ORPHA:254346
Atelosteogenesis Type Iii	Short tubular bones of the hand, Fibular aplasia, Epiphyseal stippling of the humerus, Laryngotra...	ORPHA:56305
Fanconi Anemia, Complementation Group D2	Anemia, Pancytopenia, Chromosomal breakage induced by crosslinking agents, Deficient excision of ...	OMIM:227646
Isolated Complex I Deficiency	Hepatomegaly, Proximal tubulopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle ...	ORPHA:2609
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Scoliosis, Hyperlordosis, Curly hair, Short stature, Failure to thrive, Mitral valve prolapse, At...	OMIM:300986
Systemic Lupus Erythematosus, Susceptibility To, 6	Pleuritis, Malar rash, Arthritis, Pericarditis, Abnormal renal physiology	OMIM:609939
Myopathy, Myofibrillar, 2	Muscle fiber splitting, Muscular dystrophy, Paradoxical respiration, EMG: myopathic abnormalities...	OMIM:608810
Oculoskeletodental Syndrome	Hepatomegaly, Hypercalciuria, Scoliosis, Thoracic kyphosis, Elbow flexion contracture, Low poster...	OMIM:618440
Combined Oxidative Phosphorylation Deficiency 59	Congestive heart failure, Dicarboxylic aciduria, Cholelithiasis, Hypertrophic cardiomyopathy, Fai...	OMIM:620646
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Hypertriglyceridemia, Elevated circulating h...	ORPHA:540
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Spinal rigidity, Weakness of facial musculature, Ragged-red muscle fibers, Dyspnea, Nephrolithias...	ORPHA:352447
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hip osteoarthritis, Lymphadenopathy, Knee osteoarthritis, Arthritis, Uveitis, Synovitis, ...	ORPHA:85408
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Vertebral compression fracture, Disproportionate short-limb short stature, Scoliosi...	OMIM:602557
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Rhizomelia, Unicoronal sy...	OMIM:616300
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Autosomal Recessive Progressive External Ophthalmoplegia	Bradykinesia, Depression, Optic neuritis, Ragged-red muscle fibers, Cardiomyopathy, Scapular wing...	ORPHA:254886
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy, Hypopigmentation of hair, Neoplasm of the breast, Neoplasm of ...	ORPHA:2221
Pseudoachondroplasia	Beaking of vertebral bodies, Disproportionate short-limb short stature, Abnormal form of the vert...	ORPHA:750
Cartilage-Hair Hypoplasia	Neonatal short-limb short stature, Basal cell carcinoma, Impaired lymphocyte transformation with ...	OMIM:250250
Medulloblastoma	Spinal cord tumor, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concentration...	ORPHA:616
Pearson Syndrome	Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocyt...	ORPHA:699
Mevalonic Aciduria	Morbilliform rash, Kyphoscoliosis, Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated ci...	OMIM:610377
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Lower limb amyotrophy, Scoliosis, Kyphosis, Upper limb amyotrophy, Foot dorsiflexor weakness	OMIM:617087
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Periportal fibrosis, Polycystic kidney...	OMIM:615382
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Erythroderma, Hypoplasia of the thymus,...	OMIM:603554
Laurin-Sandrow Syndrome	Mirror image polydactyly, Tarsal synostosis, Talipes, Abnormal metacarpal morphology, Triphalange...	ORPHA:2378
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Rhizomelia, Arrhythmia, Platyspondyly, Short neck, A...	OMIM:250220
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Skin rash, Cerebral edema, Left ventricular hypertrophy, Tachycardia, Dilated cardi...	OMIM:618321
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Refractory Celiac Disease	Normocytic anemia, Elevated alkaline phosphatase of bone origin, Elevated circulating hepatic tra...	ORPHA:398063
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Failure to thrive, Reduced 3-methylcrotonyl CoA carboxylase activity in ...	OMIM:210200
Acyl-Coa Dehydrogenase 9 Deficiency	Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Dicarboxylic aciduri...	ORPHA:99901
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Short stature, Glycosuri...	ORPHA:2089
Bethlem Myopathy 2	Scoliosis, Atrophic scars, Scapular winging, Kyphosis, Increased variability in muscle fiber diam...	OMIM:616471
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Periodontitis, Decreased eosinophil cou...	ORPHA:2686
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ...	OMIM:618805
Left Ventricular Noncompaction 1	Congestive heart failure, Patent ductus arteriosus, Palpitations, Atrial fibrillation, Noncompact...	OMIM:604169
Noonan Syndrome 4	Large for gestational age, Abnormal bleeding, Ureteral duplication, Polyhydramnios, High anterior...	OMIM:610733
Ghosal Hematodiaphyseal Dysplasia	Diaphyseal dysplasia, Increased bone mineral density, Refractory anemia, Myelofibrosis, Thrombocy...	OMIM:231095
Chromosome 10Q26 Deletion Syndrome	Postnatal growth retardation, Vesicoureteral reflux, Scapular winging, Low posterior hairline, Om...	OMIM:609625
Mucopolysaccharidosis Type 3	Chronic otitis media, Abnormal form of the vertebral bodies, Abnormal mitral valve morphology, Sp...	ORPHA:581
Fucosidosis	Lipoatrophy, Abnormality of the gallbladder, Hepatomegaly, Anterior beaking of lumbar vertebrae, ...	ORPHA:349
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic kidney, Unilateral renal agenesis, Abnormal form of the vertebral bodies, Aplasia of the ...	ORPHA:3109
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperglycinuria, Elevated ...	OMIM:201450
Meningococcal Meningitis	Purpura, Petechiae, Skin rash, Stroke, Hypotension, Renal insufficiency, Lethargy, Infectious enc...	ORPHA:33475
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Disproportionate short-limb short stature, Low posterior hairline	ORPHA:1803
Cutis Laxa, Autosomal Recessive, Type Iie	Inguinal hernia, Highly arched eyebrow, Scoliosis, Long eyelashes, Short stature, Ovoid vertebral...	OMIM:619451
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Squamous cell carcinoma, Squamous cell carcinoma of the vulva, B lymphocyto...	ORPHA:217390
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Ring Chromosome 12 Syndrome	Breast hypoplasia, Glandular hypospadias, Hirsutism, Dystrophic toenail, Cryptorchidism, Hemangio...	ORPHA:1439
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Flexion contracture, Lumbar hyperlordosis	OMIM:613723
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Calcification of the aorta, Delayed puberty, Cachexia, Spontaneous, recurrent epistaxis, Splenome...	ORPHA:2072
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf...	OMIM:616100
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Atelectasis, Pleural effusion, Leukocytosis, Atopic dermatitis, Dys...	ORPHA:2902
Trichohepatoenteric Syndrome 1	Abnormality of iron homeostasis, Thrombocytosis, Aortic regurgitation, Hypergalactosemia, Pulmoni...	OMIM:222470
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Synophrys, Long eyelashes, Low anterior hairline, Flexion contracture, Thic...	OMIM:618658
Fetal Akinesia Deformation Sequence 4	Polyhydramnios, Camptodactyly, Kyphosis, Cryptorchidism, Neonatal death, Skeletal muscle atrophy,...	OMIM:618393
Sepsis In Premature Infants	Decreased liver function, Bradycardia, Splenomegaly, Edema, Oliguria, Neutropenia, Abnormal bleed...	ORPHA:90051
Cardiomyopathy, Familial Restrictive, 6	Pulmonary insufficiency, Hepatomegaly, Hydrops fetalis, Restrictive cardiomyopathy, Ascites, Tric...	OMIM:619433
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion cont...	ORPHA:206549
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Kyphoscoliosis, Childhood-onset short-trunk short stature, Hypoplasia of the odontoid process, Ir...	OMIM:184100
Mucopolysaccharidosis Type 4	Grayish enamel, Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Abnormal heart valve...	ORPHA:582
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Sacral dimple, Anemia, Polyhydramnios, Pel...	OMIM:603467
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Congestive heart failure, Pulmonary edema, Hyperprostaglandinuria, Hypercalciuria, Abnormal renal...	ORPHA:73224
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Spinal rigidity, Inguinal hernia, Lipoid pneumonia, Dyspnea, EMG: myop...	OMIM:620326
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy	OMIM:618225
Progressive Pseudorheumatoid Arthropathy Of Childhood	Beaking of vertebral bodies, Hyperconvex vertebral body endplates, Vertebral wedging, Scoliosis, ...	ORPHA:1159
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Femoral bowing, Tibial bowing, Cortical thickening of long bone d...	OMIM:166740
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Loss...	OMIM:615381
Grfoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pheochromocytoma, Ascites, Pituitary adeno...	ORPHA:97261
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Bernard-Soulier Syndrome	Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr...	ORPHA:274
Williams Syndrome	Chronic otitis media, Abnormal carotid artery morphology, Hypoplasia of penis, Abnormal form of t...	ORPHA:904
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Muscular dystrophy, Ankle flexion contracture, Hypoglycosylation of alpha-dystroglycan, Limb-gird...	OMIM:613818
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Scoliosis, Lumbar hyperlordosis, Mild short stature	OMIM:618167
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Eosinophilic Fasciitis	Myositis, Arthritis, Abnormal eosinophil morphology, Muscular edema, Cellulitis, Weight loss, Ede...	ORPHA:3165
Horizontal Gaze Palsy With Progressive Scoliosis	Short neck, Scoliosis, Kyphosis	ORPHA:2744
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Recurrent aphthous stomatitis, Acute myeloid leukemia, Periodontitis, Eosinophil...	ORPHA:486
Mirizzi Syndrome	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Cholelithiasis, ...	ORPHA:521219
Congenital Myasthenic Syndromes With Glycosylation Defect	Ragged-red muscle fibers, Scoliosis, Scapular winging, Facial palsy, Muscle fiber tubular inclusi...	ORPHA:353327
Hypophosphatemic Rickets, X-Linked Recessive	Rickets, Hypophosphatemic rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement o...	OMIM:300554
Mulibrey Nanism	Short stature, Cachexia, Hepatomegaly, Intrauterine growth retardation	ORPHA:2576
Arthrogryposis, Distal, Type 3	Kyphoscoliosis, Scoliosis, Cryptorchidism, Camptodactyly of toe, Camptodactyly of finger, Thoraco...	OMIM:114300
Acquired Generalized Lipodystrophy	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Panniculitis, Abnormal cardiovascular system physi...	ORPHA:79086
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure t...	ORPHA:91130
Meckel Syndrome, Type 2	Intrauterine growth retardation, Omphalocele, Renal cyst, Bile duct proliferation	OMIM:603194
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, ...	OMIM:615615
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Muscular Hypertonia, Lethal	Pneumonia, Umbilical hernia, Respiratory distress	OMIM:254120
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Capillary leak, Hemorrhagic ovarian cyst, Hirsutism, Pleural effusion, Ascites, ...	ORPHA:64739
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Shagreen patch, Scoliosis, Hyperlordosis, Severe short stature	ORPHA:2511
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Premature graying of hair, Increased mean corpuscular volume, Dyspnea, Portal hypertension, Throm...	OMIM:620367
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Basal cell carcinoma, Abnormal bleeding, Hypopigmentation of hair, A...	ORPHA:79430
Lynch Syndrome	Neoplasm of the stomach, Gastrointestinal hemorrhage, Neoplasm of the pancreas, Intestinal polypo...	ORPHA:144
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Cornelia De Lange Syndrome 2	Postnatal growth retardation, Highly arched eyebrow, Hirsutism, Hypertrophic cardiomyopathy, Long...	OMIM:300590
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Ventricular septal defect, Anophthalmia	ORPHA:77298
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Decreased acid ceramidase activity, Arthritis, Failure to thriv...	OMIM:228000
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Nephronophthisis, Hepatomegaly, Cholestasis, Short stature, Obesity, Splenomegaly, Chronic kidney...	OMIM:615630
Poikiloderma With Neutropenia	Nail dystrophy, Recurrent otitis media, Neutropenia, Skin rash, Recurrent bronchopulmonary infect...	OMIM:604173
Tyrosinemia, Type I	Prolonged prothrombin time, Gastrointestinal hemorrhage, Enlarged kidney, Elevated circulating he...	OMIM:276700
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Decreased body weight, Kyphosis, Short stature, Small for gestational age	OMIM:618392
Sengers Syndrome	3-Methylglutaconic aciduria, Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hype...	OMIM:212350
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hydrops fetalis, Hypospadias, Bradycardia, Hypertrophic cardiomyopathy, Flexion contracture, Dila...	OMIM:618815
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Panniculitis, Inflammatory abnormality of the eye, Splenomegaly, Weight loss, Edema	ORPHA:33577
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Kyphoscoliosis, Macroorchidism	OMIM:300886
Malignant Atrophic Papulosis	Pleural effusion, Gastrointestinal hemorrhage, Constrictive pericarditis, Stroke	OMIM:602248
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiac arrest, Cardiomyop...	OMIM:617713
Eosinophilic Gastroenteritis	Steatorrhea, Anemia, Leukocytosis, Atopic dermatitis, Ascites, Hematochezia, Weight loss, Edema, ...	ORPHA:2070
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Abnormal vascular morphology, Gastrointestinal hemorrhage, Spondylolysis, Muscle hem...	ORPHA:464321
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Elevated alkaline phosphatase of bone origin, Hepatomegaly, General...	ORPHA:289157
15Q24 Microdeletion Syndrome	Congenital diaphragmatic hernia, Postnatal growth retardation, High anterior hairline, Decreased ...	ORPHA:94065
Mgat2-Cdg	Abnormal bleeding, Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin, P...	ORPHA:79329
Lethal Congenital Contracture Syndrome 10	Hydrops fetalis, Torticollis, Hypoplasia of the thymus, Omphalocele, Short neck, Increased variab...	OMIM:617022
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Scarring alopecia of scalp, Abnormal dental enamel morphology, Cholestasi...	ORPHA:59303
Joubert Syndrome 1	Highly arched eyebrow, Renal cyst, Hepatic fibrosis, Macroglossia, Nephropathy, Central apnea, Ep...	OMIM:213300
Immunodeficiency 10	Autoimmune hemolytic anemia, Amelogenesis imperfecta, Recurrent otitis media, Hepatomegaly, Lymph...	OMIM:612783
Shwachman-Diamond Syndrome 1	Narrow greater sciatic notch, Neutropenia, Metaphyseal sclerosis, Acute myeloid leukemia, Pancyto...	OMIM:260400
Aicardi-Goutières Syndrome	Calcification of the aorta, Lipoatrophy, Elevated circulating hepatic transaminase concentration,...	ORPHA:51
Lichen Planopilaris	Neoplasm of the oral cavity, Hepatitis, Alopecia	ORPHA:525
Infantile Refsum Disease	Hepatomegaly, Facial palsy, Cardiomyopathy, Short stature, Failure to thrive, Arrhythmia	ORPHA:772
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Steatorrhea, Jaundice, Hepatomegaly, Skin rash, Anemia of inadequate production, Failure to thriv...	OMIM:612714
Mucopolysaccharidosis, Type Iiid	Hypoplastic vertebral bodies, Splenomegaly, Inguinal hernia, Elbow flexion contracture, Hirsutism...	OMIM:252940
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Fused cervical vertebrae, Respiratory distress, Stomatitis, Skin rash, Pustule, Neu...	OMIM:612852
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Melas	Proximal tubulopathy, Cardiomyopathy, Recurrent pancreatitis, Myopathy, Concentric hypertrophic c...	ORPHA:550
Caffey Disease	Subperiosteal bone formation, Tibial bowing, Calvarial hyperostosis, Cortical irregularity, Perio...	OMIM:114000
Laryngotracheoesophageal Cleft Type 4	Abnormal form of the vertebral bodies, Cachexia, Abnormal mesentery morphology, Abnormality of th...	ORPHA:93941
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, F...	OMIM:275350
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea, Elevated urinary 3-hydroxybutyric acid, Reduced succinyl-CoA:3-oxoacid-CoA transferase...	OMIM:245050
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Scoliosis, Kyphosis, Generalized amyotrophy, Flexion contracture, Myopathy	OMIM:618323
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Solitary Fibrous Tumor	Pelvic mass, Abnormal peritoneum morphology, Genital neoplasm, Neoplasm of the nervous system, Ne...	ORPHA:2126
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Kyphoscoliosis, Beaking of vertebral bodies, Thoracic platyspondyly, Ossifying fibroma of the jaw...	ORPHA:457395
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Aortic aneurysm, Depression, Highly arche...	ORPHA:261330
3C Syndrome	Hypoplasia of penis, Kyphosis, Pulmonic stenosis, Aortic valve stenosis, Abnormal mitral valve mo...	ORPHA:7
Trichorhinophalangeal Syndrome, Type I	Leukonychia, Slow-growing hair, Scoliosis, Hyperlordosis, Abnormality of alkaline phosphatase lev...	OMIM:190350
Idiopathic Intracranial Hypertension	Depression, Back pain, Obesity, Lethargy	ORPHA:238624
Cinca Syndrome	Purpura, Hepatomegaly, Anemia, Lymphadenopathy, Inflammatory abnormality of the eye, Leukocytosis...	ORPHA:1451
Immunodeficiency 23	Aortic root aneurysm, Chronic mucocutaneous candidiasis, Scoliosis, Bronchiectasis, Eczematoid de...	OMIM:615816
Igg4-Related Aortitis	Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Aortic dissection, Abnormal co...	ORPHA:449400
Mitochondrial Dna Depletion Syndrome 11	Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Dyspnea, Kyphosis, Generalized amyotroph...	OMIM:615084
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis, Hepatic fibrosis, Bile duct proliferation	OMIM:610688
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Abnormal atrioventricular conduction, Scoliosis, Cardiomyopathy, Limb muscle weakness, Skeletal m...	ORPHA:329336
Pediatric-Onset Graves Disease	Congestive heart failure, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:525731
Thrombocytopenia-Absent Radius Syndrome	Fibular aplasia, Clinodactyly of the 5th finger, Fused cervical vertebrae, Aplasia/Hypoplasia of ...	ORPHA:3320
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Delayed puberty, Abse...	ORPHA:99429
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Petechiae, Vasculitis, ...	ORPHA:83313
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Cervical C2/C3 vertebral fusion, Cardiomyopathy, Nemaline bodies, Low posterior hairline, Short s...	OMIM:616549
Maple Syrup Urine Disease, Type Ia	Increased level of hippuric acid in urine, Pancreatitis, Cerebral edema, Positive 2,4-dinitrophen...	OMIM:248600
Sialidosis Type 1	Increased urinary O-linked sialopeptides, Abnormal form of the vertebral bodies, Scoliosis, Kypho...	ORPHA:812
Neuroblastoma	Abnormal bleeding, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, ...	ORPHA:635
Bethlem Muscular Dystrophy	Spinal rigidity, Wrist flexion contracture, Cigarette-paper scars, Limb-girdle muscle weakness, Q...	ORPHA:610
Hemophagocytic Lymphohistiocytosis, Familial, 2	Prolonged prothrombin time, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemi...	OMIM:603553
Tangier Disease	Hypertriglyceridemia, Nail dystrophy, Hepatomegaly, Coronary artery atherosclerosis, Distal amyot...	OMIM:205400
S-Adenosylhomocysteine Hydrolase Deficiency	Prolonged prothrombin time, Muscular dystrophy, Hydrops fetalis, Elevated circulating hepatic tra...	ORPHA:88618
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Hypoplastic iliac wing, Short ri...	ORPHA:96334
Hallermann-Streiff Syndrome	Scoliosis, Hypertension, Hyperlordosis, Sparse scalp hair, Pulmonary arterial hypertension, Crypt...	OMIM:234100
Brachydactyly, Type A1, C	Fibular hypoplasia, Short middle phalanx of the 5th finger, Short middle phalanx of the 4th finge...	OMIM:615072
O'Donnell-Luria-Rodan Syndrome	Prolonged neonatal jaundice, Cryptorchidism, Kyphosis	OMIM:618512
Surfactant Metabolism Dysfunction, Pulmonary, 4	Failure to thrive, Tachypnea, Intraalveolar phospholipid accumulation	OMIM:300770
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Short stature, Scoliosis, Hirsutism, Kyphosis	OMIM:300434
Diamond-Blackfan Anemia 6	Triphalangeal thumb, Macrocytic anemia, Tracheomalacia, Increased mean corpuscular volume, Persis...	OMIM:612561
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Scoliosis, Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Short stature, Flexio...	ORPHA:88630
Japanese Encephalitis	Pulmonary edema, Distal lower limb muscle weakness, Respiratory distress, Elbow flexion contractu...	ORPHA:79139
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Ab...	OMIM:187900
Congenital Disorder Of Glycosylation, Type Iie	Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Jau...	OMIM:608779
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocytoma, Neoplasm of the lung, Ne...	ORPHA:1332
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Usmani-Riazuddin Syndrome, Autosomal Dominant	Depression, Thoracic kyphosis, Lumbar hyperlordosis	OMIM:619467
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis, Scapular winging, Intrinsic hand muscle atrophy, Fiber type grouping, G...	OMIM:620285
B4Galt1-Cdg	Abnormal bleeding, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorma...	ORPHA:79332
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Neurofibroma	Kyphoscoliosis, Peripheral schwannoma, Spinal neurofibroma, Plexiform neurofibroma, Intestinal bl...	ORPHA:252183
Neurofibromatosis-Noonan Syndrome	Abnormality of the lymphatic system, Hypertrophic cardiomyopathy, Pulmonic stenosis, Short statur...	ORPHA:638
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Generalized amyotrophy, 2-ethylhydracylic aciduria, Apneic episodes in infancy, Lethargy	OMIM:610006
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Congenital Muscular Dystrophy With Cerebellar Involvement	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle pseudohypertrophy, Hypoglycosylation...	ORPHA:370959
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Atrial flutter, Left bundle branch block, Glomerular sclerosis...	ORPHA:439232
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Panniculitis, Anemia, Recurrent lower respiratory tract infections, Non...	ORPHA:508542
Alg3-Cdg	Decreased liver function, Abnormal circulating enzyme concentration or activity, Coarctation of t...	ORPHA:79321
Riboflavin Deficiency	Lethargy	OMIM:615026
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute...	OMIM:277000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Hypospadias, Scoliosis, Abnormal testis morphology, Kyphosis, Recurrent respiratory infections, A...	ORPHA:1548
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Recurrent otitis media, Hepatomegaly, Cholelithiasis, Hyperlordosis, Synophrys, Obesity, Hepatosp...	OMIM:301066
Chronic Hiccup	Depression, Abnormality of the diaphragm, Dehydration, Weight loss	ORPHA:396
Hereditary Sensory And Autonomic Neuropathy Type 2	Dystrophic fingernails, Dystrophic toenail, Hyperlordosis	ORPHA:970
Benign Samaritan Congenital Myopathy	Lethargy	ORPHA:324581
Mitochondrial Neurogastrointestinal Encephalomyopathy	Cirrhosis, Macrovesicular hepatic steatosis, Anemia, Elevated circulating hepatic transaminase co...	ORPHA:298
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Multicystic kid...	ORPHA:1454
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Cholesteryl Ester Storage Disease	Hypertriglyceridemia, Cirrhosis, Jaundice, Hepatomegaly, Arteriosclerosis, Splenomegaly, Hypercho...	ORPHA:75234
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Reduced tissue carnitine O...	ORPHA:228305
Osteopetrosis, Autosomal Recessive 3	Anemia, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis, Extramedullary hematopo...	OMIM:259730
Congenital Isolated Acth Deficiency	Prolonged neonatal jaundice, Decreased circulating cortisol level, Hepatitis, Hypotension	ORPHA:199296
Mitochondrial Myopathy And Sideroblastic Anemia	Delayed puberty, Generalized limb muscle atrophy, Anemia, Scoliosis, Kyphosis, Distichiasis, Myop...	ORPHA:2598
Dyskeratosis Congenita	Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Bone marrow hypocellularity,...	ORPHA:1775
Three M Syndrome 3	Increased vertebral height, Hyperlordosis, Decreased body weight, Short stature, Growth delay, Sh...	OMIM:614205
Renal And Mullerian Duct Hypoplasia	Severe postnatal growth retardation, Aplasia of the uterus, Anteriorly displaced urethral meatus,...	OMIM:266810
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Hypertension, Dyspnea, Increased adipose tiss...	ORPHA:1349
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Vici Syndrome	Postnatal growth retardation, Congestive heart failure, Atrial septal defect, Recurrent respirato...	OMIM:242840
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Ovarian Dysgenesis 2	Delayed puberty, Hirsutism, Hypergonadotropic hypogonadism, Streak ovary, Hypoplasia of the uterus	OMIM:300510
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Pol...	OMIM:263200
Glucagonoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Normochromic anemia, Skin ras...	ORPHA:97280
Immunodeficiency 13	Recurrent otitis media, Bronchiolitis obliterans organizing pneumonia, B lymphocytopenia, T lymph...	OMIM:615518
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Abnormal form of the vertebral bodies, Hyperlordosis, Short stature, Umbilical h...	ORPHA:3218
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Alpha-Thalassemia Myelodysplasia Syndrome	HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:300448
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	ORPHA:79477
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Abnormal cardiac ventricular function, Dyspnea, Abnormality of the hepatic vasculat...	ORPHA:1677
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Amelogenesis imperfecta, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, S...	ORPHA:169090
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Muscular dystrophy, Peroneal muscle weakness, Skeletal muscle hypertrophy, Hypoglycosylation of a...	OMIM:611588
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Skin rash, Elevated tota...	ORPHA:98848
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Cholelithiasis, Bradycardia, Facial hypotonia, Bilate...	ORPHA:97297
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Heart block, Cystic renal dysplasia, Dicarboxylic aciduria, He...	ORPHA:228308
Omodysplasia 1	Limited elbow extension, Fibular hypoplasia, Limited knee flexion/extension, Rhizomelia, Limited ...	OMIM:258315
Noonan Syndrome	Low posterior hairline, Arrhythmia, Abnormal bleeding, Scoliosis, Pulmonary artery stenosis, Shor...	ORPHA:648
Cockayne Syndrome Type 3	Premature graying of hair, Elevated circulating hepatic transaminase concentration, Cardiomyopath...	ORPHA:90324
Stiff-Person Syndrome	Anemia, Proximal limb muscle stiffness, Depression, Asymmetric limb muscle stiffness, Hypertensio...	OMIM:184850
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Hepatomegaly, Recurrent respiratory infections, Respiratory distress, Facial hirsutism, Scoliosis...	OMIM:619383
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Small pituitary gland, Scoliosis, Decreased testicular size, Failure to...	ORPHA:398079
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Respiratory tract infection, We...	ORPHA:79127
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Petechiae, ...	ORPHA:158029
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Scoliosis, Hyperlordosis, Vertebral segmentation defect, Low posterior hairline, Short stature, C...	ORPHA:1323
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Aplasia of the 3rd finger, Short hallux, Split hand, Absent tibia, Hand monodactyly, Split foot, ...	OMIM:119100
Combined Oxidative Phosphorylation Deficiency 31	Hypertrophic cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter, I...	OMIM:617228
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Retinal arterial tortuosity, Highly arched eyebrow, Cerebral edema, Cardiomegaly, Hydrops fetalis...	OMIM:620371
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Lymphadenopathy, Arthritis, Skin rash, Leukocytosis, Splenomegaly,...	OMIM:611762
Occipital Horn Syndrome	Scarring, Jaundice, Vascular dilatation, Thick hair, Venous insufficiency, Inguinal hernia, Hiatu...	ORPHA:198
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
3M Syndrome	Increased vertebral height, Hypospadias, Abnormal dental enamel morphology, Scoliosis, Hyperlordo...	ORPHA:2616
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:300946
Macrocephaly/Autism Syndrome	Large for gestational age, Hepatomegaly, Recurrent otitis media, Dilation of Virchow-Robin spaces...	OMIM:605309
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti...	ORPHA:100026
Distal Deletion 10Q	Postnatal growth retardation, Acute kidney injury, Spina bifida occulta, Vesicoureteral reflux, F...	ORPHA:96148
Scapuloperoneal Spinal Muscular Atrophy	Muscle fiber splitting, Peroneal muscle weakness, Torticollis, Amyoplasia, Progressive distal mus...	OMIM:181405
Developmental And Speech Delay Due To Sox5 Deficiency	Butterfly vertebrae, Scoliosis, Thoracic kyphoscoliosis, Mitral regurgitation, Lumbar hyperlordos...	ORPHA:313892
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Seborrheic dermatitis, Arthritis, Scoliosis, N...	ORPHA:2796
Mucopolysaccharidosis Type 2, Severe Form	Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Abnormal mitral valve morpholo...	ORPHA:217085
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Muscular dystrophy, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Hyperlordosis, Increase...	OMIM:613157
Adams-Oliver Syndrome 6	Truncus arteriosus, Tricuspid regurgitation, Portal hypertension, Renal hypoplasia, Splenomegaly,...	OMIM:616589
Congenital Tracheomalacia	Abnormal heart morphology, Cardiomegaly, Dyspnea, Pulmonary arterial hypertension, Failure to thr...	ORPHA:95430
Whim Syndrome	Severe periodontitis, Atelectasis, Parotitis, Lymphadenitis, Abnormal neutrophil morphology, Bron...	ORPHA:51636
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Decr...	OMIM:618839
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Decreased proportion of class-switched memory B cells, Crohn's di...	OMIM:619705
Paroxysmal Nocturnal Hemoglobinuria	Hypertension, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Increased c...	ORPHA:447
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Thyroiditis, Punctate kera...	OMIM:617388
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Exertional dyspnea, Palpitations, ST segment elevation, Right bun...	ORPHA:263297
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Eczematoid dermatitis, Failure to thrive in infancy, Growth delay, Decreased p...	OMIM:619510
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Hypertriglyceridemia, Lipoatrophy, Hypertension, Ventricular hypertrop...	ORPHA:363618
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Arthritis, Enuresis nocturna, Bronchitis, Conjunctiva...	ORPHA:420741
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hepatosplenomegaly, Hirsutism	ORPHA:313855
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Highly arched eyebrow, Scoliosis, Kyphosis, Short stature, Thick eyebrow, Umbili...	OMIM:615834
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, Brittle hair, B lymphocytopenia, Cardiomyopathy, Growth delay, Sid...	OMIM:616084
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Pancreatitis, Cholangitis, Sclerosing cholangitis, Cholelithiasis, Live...	ORPHA:69663
Igg4-Related Retroperitoneal Fibrosis	Deep dermal perivascular inflammatory infiltrate, Renal tubular epithelial necrosis, Hypertension...	ORPHA:49041
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Scoliosis, Kyphosis, Cryptorchidism, Increased variability in muscle fiber diamet...	OMIM:618484
Femoral-Facial Syndrome	Abnormal fibula morphology, Abnormal pelvic girdle bone morphology, Coxa vara, Aplasia/Hypoplasia...	ORPHA:1988
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Central apnea, Depression, Scoliosis, Panh...	ORPHA:220386
Congenital Myopathy 24	Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl...	OMIM:617336
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Central apnea, Depression, Scoliosis, Panh...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Central apnea, Depression, Scoliosis, Panh...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Central apnea, Depression, Scoliosis, Panh...	ORPHA:93924
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
Thymic Carcinoma	Palpebral edema, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Dyspnea, Neoplasm of...	ORPHA:99868
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Hepatomegaly, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Restrictive cardiomyopathy, Facial palsy, Hypertrophic car...	OMIM:619424
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Annular pancreas, Atrioventricular canal defect, Abnormal vertebral morp...	ORPHA:210122
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Cervical spinal canal stenosis, Decreased response to growth hormone stimulation test, Scoliosis,...	OMIM:616007
Mucopolysaccharidosis Type 2, Attenuated Form	Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Abnormal mitral valve morpholo...	ORPHA:217093
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Exertional dyspnea, Chronic lymp...	ORPHA:90033
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Arthrogryposis, Distal, Type 5D	Highly arched eyebrow, Scoliosis, Elbow flexion contracture, Hyperlordosis, Camptodactyly, Short ...	OMIM:615065
Cardiofaciocutaneous Syndrome 3	Scoliosis, Hypertrophic cardiomyopathy, Curly hair, Pulmonic stenosis, Failure to thrive, Short s...	OMIM:615279
Congenital Arthrogryposis With Anterior Horn Cell Disease	Scoliosis, Facial diplegia, Kyphosis, Cryptorchidism, Neonatal death, Skeletal muscle atrophy, Sh...	OMIM:611890
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Nail dystrophy, Dystrophic fingernails, Highly arched eyebrow, Abnormal dental enamel morphology,...	ORPHA:3253
Secondary Intestinal Lymphangiectasia	Cirrhosis, Anasarca, Intestinal lymphedema, Lymphedema, Pleural effusion, Lymphoma, Right ventric...	ORPHA:90363
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Depression, Hepatosplenomegaly, Pneumonia, Oligosacchariduria...	ORPHA:309288
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Polyhydramnios, Inguinal hernia, Pancreatic lymphangiectasis, Lymphedema, Ascites, ...	OMIM:235255
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Hepatomegaly, Polyhydramnios, Inguinal hernia, Pancreatic lymphangi...	ORPHA:1655
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Large for gestational age, Enlarged kidney, Sacral dimple, Inguinal hernia, Kyphosis, Umbilical h...	OMIM:618272
Acromesomelic Dysplasia 2B	Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Absent ...	OMIM:228900
Hereditary Bullous Dystrophy, Macular Type	Nail dystrophy, Atrichia, Decreased testicular size, Short stature, Growth delay, Abnormal heart ...	ORPHA:1867
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Primary Familial Polycythemia	Polycythemia, Epistaxis, Abnormal hemoglobin	ORPHA:90042
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concen...	OMIM:611126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bradykinesia, Depression, Ragged-red muscle fibers, Scoliosis, Cardiomyopathy, EMG: myopathic abn...	OMIM:258450
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Obesity, Colitis	ORPHA:88643
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Hepatomegaly, Anemia, Exertional dyspnea, Respiratory distress, Hypertr...	OMIM:220110
Adams-Oliver Syndrome 5	Inguinal hernia, Patent foramen ovale, Dystrophic toenail, Pulmonary arterial hypertension, Right...	OMIM:616028
Gaucher Disease Type 3	Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Hematuria, Anemia, Hyd...	ORPHA:77261
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Chops Syndrome	Cervical C2/C3 vertebral fusion, Thick hair, Patent foramen ovale, Vesicoureteral reflux, Aspirat...	OMIM:616368
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Hepatocellular adenoma, Elevated circulating hepatic transaminase concentra...	ORPHA:79240
Lysinuric Protein Intolerance	Hepatomegaly, Oroticaciduria, Pancreatitis, Hemophagocytosis, Anemia, Intraalveolar phospholipid ...	OMIM:222700
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormality of the vertebral column, Vertebral wedging, Increased intervertebral space, Scoliosis...	ORPHA:93314
Mcdonough Syndrome	Cachexia, Scoliosis, Kyphosis, Synophrys, Short stature, Aplasia/Hypoplasia of the abdominal wall...	ORPHA:2471
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio...	OMIM:619167
Leydig Cell Hypoplasia	Testicular gonadoblastoma, Hypospadias, Abnormal vas deferens morphology, Breast aplasia, Hypopla...	ORPHA:755
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Juvenile myelomonocytic leukemia, Polyhydramnios, Chylothorax, High...	OMIM:613563
Spondyloepimetaphyseal Dysplasia, Irapa Type	Hypoplastic sacrum, Osteoarthritis, Disproportionate short-trunk short stature, Platyspondyly, Lu...	OMIM:271650
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial...	OMIM:619051
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Bradycardia, Hypertrophic cardiomyopathy, Apnea, Ventricular septal defect, Elevated urine 2,3-di...	OMIM:616277
Non-Functioning Paraganglioma	Congestive heart failure, Hematuria, Hypertension associated with pheochromocytoma, Sinus tachyca...	ORPHA:94080
Somatostatinoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Steatorrhea, Ascites, Pituitary adenoma, P...	ORPHA:97283
Ullrich Congenital Muscular Dystrophy 1A	Muscular dystrophy, Spinal rigidity, Nocturnal hypoventilation, Reduced muscle collagen VI, Torti...	OMIM:254090
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Exertional dyspnea, Redu...	OMIM:608751
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Pancytopenia, Crohn's disease, Splenomegaly, Recurrent sinopulmonary in...	OMIM:618394
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation	OMIM:611561
Myofibrillar Myopathy 10	Ankle flexion contracture, Knee flexion contracture, Prolonged QTc interval, Elbow flexion contra...	OMIM:619040
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Proximal tubulopathy, Failure to thrive, Weight loss, Aminoaciduria	OMIM:612075
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Increased urinary N-acetylglucosamin...	OMIM:268800
Posterior Urethral Valve	Postnatal growth retardation, Urinary incontinence, Enuresis nocturna, Hypertension, Dysuria, Ves...	ORPHA:93110
Trisomy 1Q	Ventricular septal defect, Anophthalmia	ORPHA:261344
Intellectual Developmental Disorder, Autosomal Dominant 52	Cervical C2/C3 vertebral fusion, Scapular winging, Bilateral cryptorchidism, Synophrys, Cryptorch...	OMIM:617796
Tetrasomy 9P	Biliary atresia, Juxtaductal coarctation of the aorta, Pericarditis, Abnormal mitral valve morpho...	ORPHA:3310
Lipodystrophy, Congenital Generalized, Type 1	Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Sh...	OMIM:252011
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Narrow greater sciatic notch, Fibular hypoplasia, Preaxial polydactyly, Hypoplastic pubic bone, S...	OMIM:617925
Amoebiasis Due To Free-Living Amoebae	Increased red blood cell count, Myocardial necrosis, Facial palsy, Sinusitis, Granuloma, Pustule,...	ORPHA:68
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Decreased liver function, Hepatomegaly, Anemia, Exertional dyspnea, Hypertrophic cardiomyopathy, ...	ORPHA:436271
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Kyphoscoliosis, Spinal neurofibroma, Subcutaneous neurofibroma, Hyperlordosis, Sinusitis, Pulmoni...	ORPHA:363700
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Delayed puberty, Breast hypoplasia, Alopecia of scalp, Aplasia of the ovary, Agonadism, Kyphosis,...	ORPHA:2232
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Atherosclerosis, Vascular dilatatio...	ORPHA:758
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Distal Triplication 15Q	Large for gestational age, Hypoplastic aortic arch, Polycystic kidney dysplasia, Scoliosis, Intra...	ORPHA:314588
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Neonatal death, Organic aciduria, Hypertrophic cardiomyopathy	OMIM:617184
Fabry Disease	Delayed puberty, Hypertension, Hyperlipidemia, Left ventricular hypertrophy, Depression, Transien...	ORPHA:324
Central Neurocytoma	Depression, Lethargy	ORPHA:73256
Hemophagocytic Lymphohistiocytosis, Familial, 1	Prolonged prothrombin time, Hypertriglyceridemia, Jaundice, Hepatomegaly, Hemophagocytosis, Anemi...	OMIM:267700
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated circulating hepatic transaminase concentration, Hypospadias, Renal tubular acidosis, Sco...	OMIM:615471
Malignant Peritoneal Mesothelioma	Dyspnea, Ascites, Weight loss, Peritonitis, Neoplasm, Pedal edema	ORPHA:168811
Joubert Syndrome 2	Nephronophthisis, Renal cyst, Failure to thrive, Renal insufficiency, Central apnea, Episodic tac...	OMIM:608091
Trichodermodysplasia-Dental Alterations Syndrome	Sparse or absent eyelashes, Brittle hair, Scoliosis, Hyperlordosis, Sparse scalp hair, Sparse lat...	ORPHA:3353
Immunodeficiency 42	Chronic oral candidiasis, Hepatomegaly, Recurrent aphthous stomatitis, Hypoplasia of the thymus, ...	OMIM:616622
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hyperlordosis, Facial palsy, Short stature, Sparse body hair, Skeletal muscl...	ORPHA:3068
Three M Syndrome 2	Hyperlordosis, Scapular winging, Short stature, Severe short stature, Intrauterine growth retarda...	OMIM:612921
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Arteriovenous malformation, Lipoma, Cachexia, Neoplasm, Subcutaneous hemorr...	ORPHA:109
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Abnormal aortic ar...	ORPHA:567
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Noonan Syndrome 14	Polyhydramnios, Aortic regurgitation, Scapular winging, Hypertrophic cardiomyopathy, Kyphosis, Pu...	OMIM:619745
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Insulin-Resistance Syndrome Type B	Skin rash, Increased body weight, Biliary cirrhosis, Hodgkin lymphoma, Leukopenia, Hirsutism, Abn...	ORPHA:2298
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Growth delay...	OMIM:619846
Acquired Methemoglobinemia	Tachycardia, Arrhythmia, Syncope, Palpitations, Methemoglobinemia	ORPHA:464453
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Abnormal fibula morphology, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Aplasia/...	ORPHA:988
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At...	OMIM:300257
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Scoliosis, Recurrent upper respiratory...	OMIM:619752
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Scoliosis, Kyphosis, Apnea, Hydronephrosis, Patent ductus arteriosus, Frontal upsweep of hair, Cr...	OMIM:619797
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Lymphedema, Hypertrophic cardiomyopathy, Generalized amyotrophy, Telangiectasia of ...	ORPHA:79279
Noonan Syndrome With Multiple Lentigines	Pulmonic stenosis, Abnormal mitral valve morphology, Arrhythmia, Mitral valve prolapse, Intrauter...	ORPHA:500
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis...	ORPHA:373
Lateral Meningocele Syndrome	Inguinal hernia, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Kyphosis, Low p...	ORPHA:2789
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Sparse hair, Lymphopenia, Intrauterine g...	OMIM:620005
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Pituitary dwarfism, Reduced circulating pr...	ORPHA:226307
Neonatal Alloimmune Neutropenia	Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Jaundice	ORPHA:464370
Neutral Lipid Storage Disease With Ichthyosis	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card...	ORPHA:98907
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Argininosuccinic Aciduria	Trichorrhexis nodosa, Hepatomegaly, Oroticaciduria, Brittle hair, Failure to thrive, Cerebral ede...	OMIM:207900
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Small for gestational age, Hypertrophic cardiomyopathy	OMIM:615917
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Scoliosis, Atrophic scars, Premature osteoarthritis, Kyphosis, Contracture of the proximal interp...	OMIM:130060
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, High anterior hairline, Decreased response to growth hormone stimulation test, T...	OMIM:615873
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Xanthelasma, Enlarged kidney, Hepatocellular adenoma, Delayed puberty, Tubu...	ORPHA:79259
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Scoliosis, Low posterior hairline, Kyphosis, Synophrys, Thick eyebrow, Truncal obesity	ORPHA:2429
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Decreased response to growth...	OMIM:618223
Huntington Disease-Like 2	Bradykinesia, Depression, Inertia, Weight loss, Apathy	OMIM:606438
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w...	OMIM:615352
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Glycogen Storage Disease Ib	Delayed puberty, Xanthelasma, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular f...	OMIM:232220
Muscular Dystrophy, Cardiac Type	Carnosinuria, Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Erythrocytosis, Familial, 1	Myocardial infarction, Exertional dyspnea, Increased red blood cell mass, Hypertension, Increased...	OMIM:133100
X-Linked Centronuclear Myopathy	Polyhydramnios, Respiratory distress, Necklace skeletal muscle fibers, Type 1 fibers relatively s...	ORPHA:596
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Polyhydramnios, Hepatomegaly, Brittle hair, Hypertrophic cardiomyopathy, Sparse eyebrow, Neonatal...	OMIM:618810
Digeorge Syndrome	Right aortic arch with mirror image branching, Seborrheic dermatitis, Recurrent sinusitis, Ovaria...	OMIM:188400
Ppoma	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Ascites, Pituitary adenoma, Parathyroid ad...	ORPHA:97278
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea, Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy	OMIM:618236
Naxos Disease	Nail dystrophy, Paroxysmal ventricular tachycardia, Premature ventricular contraction, Abnormal h...	OMIM:601214
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M...	OMIM:613155
Brachyolmia Type 1, Hobaek Type	Squared-off platyspondyly, Lumbar hypolordosis, Intervertebral space narrowing, Scoliosis, Kyphos...	OMIM:271530
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Arthritis, Abnormal pleura morphology, Lymphopenia	ORPHA:2582
Hyperphenylalaninemia, Bh4-Deficient, B	Decreased urinary biopterin level, Limb hypertonia, Decreased urinary neopterin level, Elevated u...	OMIM:233910
Myotonia Permanens	Skeletal muscle hypertrophy, Hyperlordosis, Dyspnea, Short stature, Generalized muscle hypertrophy	ORPHA:99735
Fanconi Anemia	Abnormal carotid artery morphology, Arteriovenous malformation, Leukopenia, Neoplasm, Intrauterin...	ORPHA:84
Marden-Walker Syndrome	Postnatal growth retardation, Dextrocardia, Hypospadias, Inguinal hernia, Scoliosis, Kyphosis, Ca...	OMIM:248700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Nail dystrophy, Anemia, Emphysema, Squamous cell carcinoma of the skin...	OMIM:620365
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Hajdu-Cheney Syndrome	Delayed puberty, Kyphosis, Aortic valve stenosis, Biconcave vertebral bodies, Multiple renal cyst...	ORPHA:955
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Large i...	ORPHA:116
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Delayed puberty, Absent pubic hair, Hypoplasia of the ovary, Decreased testicular size, Micropeni...	OMIM:614841
Perry Syndrome	Depression, Hypotension, Weight loss, Apathy, Central hypoventilation	ORPHA:178509
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Acute kidney injury, Hypercholesterolemia, Minimal change glomerulonephriti...	ORPHA:567548
Abetalipoproteinemia	Kyphoscoliosis, Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating h...	ORPHA:14
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Cystic renal dysplasia, Hepatomegaly, Reduced tissue carnitine...	ORPHA:157
Mitochondrial Complex I Deficiency, Nuclear Type 7	Failure to thrive, Hypertrophic cardiomyopathy	OMIM:618229
Alexander Disease	Depression, Scoliosis, Hypertension, Hyperlordosis, Hypotension, Kyphosis, Facial palsy, Failure ...	ORPHA:58
Trichohepatoneurodevelopmental Syndrome	Decreased liver function, Steatorrhea, Splenomegaly, Recurrent pancreatitis, Scoliosis, Woolly ha...	OMIM:618268
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Periodontitis, Lymphadenopathy, Silver-gray hai...	OMIM:214500
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
3Mc Syndrome	Postnatal growth retardation, Caudal appendage, Spina bifida occulta, Highly arched eyebrow, Scol...	ORPHA:293843
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Reduced level of N-acetylglucosaminyltransferase II, Cholelithiasis, Anemia of inadequa...	OMIM:224100
Zimmermann-Laband Syndrome 1	Hepatomegaly, Spina bifida occulta, Long penis, Gingival fibromatosis, Aortic root aneurysm, Scol...	OMIM:135500
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Elevated ur...	OMIM:256700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Congestive heart failure, 3-Methylglutaconic aciduria, Increased hepatic glycogen content, Depres...	OMIM:619259
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab...	ORPHA:35858
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Elevated alkaline phosphatase of hepatic origin, Neoplasm of the nervo...	ORPHA:100086
Mucolipidosis Iii Alpha/Beta	Hepatomegaly, Aortic regurgitation, Spondylolisthesis, Inguinal hernia, Scoliosis, Cardiomyopathy...	OMIM:252600
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Lipoatrophy, Alopecia of scalp, Abnormal hair quantity, Scoliosis, Ver...	ORPHA:2617
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Scoliosis, Hyperlordosis, ...	OMIM:615356
Citrullinemia, Classic	Cirrhosis, Hepatomegaly, Oroticaciduria, Stroke, Reduced tissue argininosuccinate synthetase acti...	OMIM:215700
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphol...	ORPHA:324410
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Pulmonary embolism, Hepatomegaly, Anemia, Iron deficiency anemia, Intestinal lymphangiectasia, Re...	OMIM:226300
Neutral Lipid Storage Disease With Myopathy	Hypertriglyceridemia, Hepatomegaly, Chronic pancreatitis, Elevated circulating hepatic transamina...	OMIM:610717
Noonan Syndrome 2	Abnormal coronary artery origin, Cardiomyopathy, Low posterior hairline, Pulmonic stenosis, Nonim...	OMIM:605275
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Sandwich appearance of vertebral bodies, Facial palsy, Increa...	OMIM:259700
Ullrich Congenital Muscular Dystrophy	Spinal rigidity, Torticollis, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormalities,...	ORPHA:75840
Ataxia-Telangiectasia	Delayed puberty, Recurrent lower respiratory tract infections, Abnormal hair morphology, Recurren...	OMIM:208900
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Preaxial polydactyly, Femoral bowing, Short ribs, Sho...	OMIM:613091
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase...	OMIM:616866
Thanatophoric Dysplasia	Polyhydramnios, Disproportionate short-limb short stature, Abnormal sacroiliac joint morphology, ...	ORPHA:2655
Anauxetic Dysplasia 1	Rhizomelia, Thoracic kyphosis, Elbow flexion contracture, Aortic valve stenosis, Hip contracture,...	OMIM:607095
Winchester Syndrome	Hirsutism, Kyphosis	OMIM:277950
Noonan Syndrome 5	Large for gestational age, Polyhydramnios, Hypertrophic cardiomyopathy, Curly hair, Pulmonic sten...	OMIM:611553
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Hyperlordosis, Short stature, Reduced pancreatic beta cells, Hypoplasia of the odon...	OMIM:226980
Infantile Liver Failure Syndrome 3	Beaking of vertebral bodies, Prolonged prothrombin time, Jaundice, Hepatomegaly, Elevated circula...	OMIM:618641
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthritis, Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contra...	OMIM:208250
Irida Syndrome	Pallor	ORPHA:209981
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Hydrops fetalis, Reticu...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Hydrops fetalis, Reduced level of N-acetylglucosaminyltransferase II, Macrocytic dy...	OMIM:224120
Glycogen Storage Disease Vii	Increased muscle glycogen content, Exercise-induced myoglobinuria, Hematuria, Jaundice, Cholelith...	OMIM:232800
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Rhizomelic Syndrome, Urbach Type	Rhizomelia, Abnormal form of the vertebral bodies, Abnormal hair quantity, Kyphosis, Pulmonic ste...	ORPHA:3098
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Panniculitis, Hemophagocytosis, Hepatosplenomegaly, Weight loss	ORPHA:86884
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Beaking of vertebral bodies, Premature osteoarthritis, Short stature, Recurrent pneumonia, Corona...	OMIM:215150
Otospondylomegaepiphyseal Dysplasia	Disproportionate short stature, Abnormal vertebral morphology, Polyhydramnios, Abnormally ossifie...	ORPHA:1427
Refsum Disease	Heart block, Cardiomyopathy, Skeletal muscle atrophy, Splenomegaly, Renal insufficiency	ORPHA:773
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Loss of truncal subcutaneous adipose tissue, Lumbar hemivertebrae, Hypoplasia of the musculature,...	ORPHA:2463
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	3-Methylglutaconic aciduria, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:17
Hennekam Syndrome	Hydrops fetalis, Arteriovenous malformation, Ectopic kidney, Lymphadenopathy, Chylothorax, Lymphe...	ORPHA:2136
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Glutaric Acidemia Type 3	Glutaric aciduria, Sacral dimple, Failure to thrive, Lethargy, Ketonuria	ORPHA:35706
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Petechiae, Facial palsy, Reticulocytosis, Growth delay, Thrombocytopenia, S...	OMIM:611490
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pancreatitis, Depression, Hypertension, Kyphosis, Ovarian cyst, Bruising susceptibility, Paradoxi...	OMIM:610475
Sneddon Syndrome	Ischemic stroke, Stroke, Hypertension, Facial palsy, Atrophic scars, Cerebral hemorrhage, Lymphop...	OMIM:182410
Glycogen Storage Disease Ixb	Increased muscle glycogen content, Hepatomegaly, Increased hepatic glycogen content, Growth delay...	OMIM:261750
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormal fibula morphology, Abnormality of the lower limb, Tibial bowing, Bowing of the long bone...	ORPHA:3035
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Scoliosis,...	OMIM:616843
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Hypothyroidism Due To Tsh Receptor Mutations	Bradycardia, Thyroid hypoplasia, Prolonged neonatal jaundice, Umbilical hernia, Edema, Macrogloss...	ORPHA:90673
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Abnormality of hair texture, Cardio...	ORPHA:34217
Refsum Disease, Classic	Congestive heart failure, Reduced phytanic acid oxidase activity in cultured fibroblasts, Cardiom...	OMIM:266500
Combined Oxidative Phosphorylation Deficiency 38	Failure to thrive, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy	OMIM:618378
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Depression, Pituitary hypothyroidism, Thyroid hypopl...	ORPHA:99832
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia, Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops ...	OMIM:618835
Dravet Syndrome	Pallor	ORPHA:33069
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Sparse scalp hair, Low posterior hairline, Hypertrophic ...	ORPHA:2701
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Supernumerary nipple, Highly arched ...	OMIM:619951
Duchenne Muscular Dystrophy	Scoliosis, Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Nail dystrophy, Bradycardia, Ureterocele, Edema, Pyoderma, Squ...	ORPHA:79404
Trichothiodystrophy	Defective DNA repair after ultraviolet radiation damage, Anemia, Increased mean corpuscular hemog...	ORPHA:33364
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Micrognathia, Short toe, Flexion contracture, Microcytic anemia, Talipes equinovarus	ORPHA:98791
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Chronic bronchitis, T lymphocytopenia, Sinusitis, Bronchiectasis, Failure to thrive, Short statur...	OMIM:242860
Orofaciodigital Syndrome Type 2	Finger clinodactyly, Cone-shaped epiphyses of the phalanges of the hand, Finger syndactyly, Adact...	ORPHA:2751
Cdkl5-Deficiency Disorder	Growth delay, Scoliosis, Kyphosis, Synophrys	ORPHA:505652
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating hepatic transaminase concentration, Cholelithiasis, Decreased body weight, H...	OMIM:614886
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Decreased glucosephosphate isomerase leve...	OMIM:613470
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Slow-growing hair, Scoliosis, Absent eyelashes, Atopic dermatitis, Hypertrophic c...	OMIM:115150
Susac Syndrome	Apathy, Lethargy	ORPHA:838
Koolen-De Vries Syndrome	Spondylolisthesis, Kyphosis, Pulmonic stenosis, Intrauterine growth retardation, Bicuspid aortic ...	OMIM:610443
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Megaloblastic anemia, Cardiomyopathy, Growth delay, Sideroblasti...	OMIM:222300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Systemic Lupus Erythematosus	Cheilitis, Hematuria, Lymphadenopathy, Pyuria, Malar rash, Arthritis, Discoid lupus rash, Hyperte...	ORPHA:536
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Metaphyseal Chondrodysplasia, Schmid Type	Scoliosis, Proportionate short stature, Short stature, Irregular vertebral endplates, Mild short ...	OMIM:156500
Lipodystrophy, Congenital Generalized, Type 2	Hypertriglyceridemia, Cirrhosis, Ventricular septal hypertrophy, Hepatomegaly, Elevated circulati...	OMIM:269700
Atrial Septal Defect, Ostium Secundum Type	Exertional dyspnea, Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dila...	ORPHA:99103
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Beaking of vertebral bodies, Disproportionate short stature, Scoliosis, Irregular vertebral endpl...	OMIM:609616
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	3-Methylglutaconic aciduria, Renal tubular acidosis, Cardiomyopathy, Short stature, Failure to th...	ORPHA:324525
Fibrosis Of Extraocular Muscles, Congenital, 3C	Highly arched eyebrow, Congenital fibrosis of extraocular muscles, Kyphosis	OMIM:609384
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal...	ORPHA:276621
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Facial palsy, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:615085
Dent Disease 1	Rickets, Fibular bowing, Delayed epiphyseal ossification, Enlargement of the ankles, Femoral bowi...	OMIM:300009
Mitochondrial Complex I Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypertrophic cardiomyopathy	OMIM:618243
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Tricuspid regurgitation, Bilateral cryptorchidism, Patent ductus arteriosus...	OMIM:618652
Cantú Syndrome	Platyspondyly, Curly eyelashes, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Low...	ORPHA:1517
Mucopolysaccharidosis Type 2	Hypertension, Cardiomyopathy, Abnormal mitral valve morphology, Abnormal heart morphology, Enlarg...	ORPHA:580
Steel Syndrome	Short stature, Scoliosis, Lumbar hyperlordosis	OMIM:615155
Osteopathia Striata-Cranial Sclerosis Syndrome	Spina bifida occulta, Scoliosis, Hyperlordosis, Facial palsy, Aortic valve stenosis, Coarctation ...	ORPHA:2780
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Aids Wasting Syndrome	Cachexia, Skeletal muscle atrophy, Weight loss	ORPHA:90081
Leigh Syndrome	3-Methylglutaconic aciduria, Generalized aminoaciduria, Complex organic aciduria, Intrauterine gr...	ORPHA:506
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Atelectasis, Polyhydramnios, Inguinal hernia, Periportal fibrosis, Patent foramen o...	OMIM:269860
Costello Syndrome	Polyhydramnios, Abnormal hair morphology, Abnormal dental enamel morphology, Macroglossia, Hypert...	ORPHA:3071
Granulomatosis With Polyangiitis	Chronic otitis media, Pleuritis, Localized pulmonary hemorrhage, Retinal hemorrhage, Episcleritis...	OMIM:608710
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Pulmonic stenosis, Leukopenia, Lymphopenia, Bicuspid aortic valve, Umbil...	OMIM:620654
Reactive Arthritis	Dystrophic fingernails, Recurrent aphthous stomatitis, Aortic regurgitation, Arthritis, Pericardi...	ORPHA:29207
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia...	OMIM:603585
Combined Oxidative Phosphorylation Deficiency 57	Cardiac arrest, Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Neona...	OMIM:620167
Congenital Myopathy 22A, Classic	Spinal rigidity, Polyhydramnios, Weakness of facial musculature, Bradycardia, Ragged-red muscle f...	OMIM:620351
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Noonan Syndrome 7	Large for gestational age, Scoliosis, Hypertrophic cardiomyopathy, Low posterior hairline, Pulmon...	OMIM:613706
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hepatomegaly, Recu...	OMIM:301078
Biotinidase Deficiency	Decreased circulating biotinidase concentration, Respiratory distress, Alopecia, Skin rash, Organ...	ORPHA:79241
Neutral Lipid Storage Myopathy	Hypertriglyceridemia, Congestive heart failure, Generalized limb muscle atrophy, Hepatomegaly, Ch...	ORPHA:98908
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Hyperlordosis	ORPHA:269
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti...	OMIM:619170
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Hypospadias, Abnormal intervertebral disk morphology, Abnormal f...	ORPHA:2311
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Panniculitis, Lymphadenopathy, Generalized lipodystrop...	OMIM:619183
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Hyperlordosis, Sacral dimple, Scoliosis, Curly hair, Sparse lateral eyebrow, Failure to thrive, H...	OMIM:619950
Hermansky-Pudlak Syndrome 2	Chronic oral candidiasis, Absent platelet dense granules, Recurrent otitis media, Hepatomegaly, P...	OMIM:608233
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Eczematoid dermatitis, Edema, Microcytic anemia	ORPHA:79278
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, Dyspnea, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Obe...	OMIM:615418
Developmental And Epileptic Encephalopathy 75	Decreased liver function, Prolonged neonatal jaundice, Cardiomyopathy	OMIM:618437
Cryptogenic Organizing Pneumonia	Pneumothorax, Respiratory distress, Dyspnea, Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Proximal placement of thumb, Tapered finger, Camptodactyly, Increased mean platelet volume, Throm...	ORPHA:487796
Mesomelic Dysplasia, Savarirayan Type	Fibular aplasia, Glenoid fossa hypoplasia, Narrow iliac wing, Bowing of the long bones, Flared ra...	ORPHA:85170
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Hypospadias, Scoliosis, Omphalocele, Abnormal pericardium morpho...	ORPHA:1335
Degcags Syndrome	Premature graying of hair, Cholestasis, Abnormal spleen morphology, Low posterior hairline, Pulmo...	OMIM:619488
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypospadias, Scoliosis, Kyphosis...	ORPHA:2075
Familial Hypoaldosteronism	Renal salt wasting, Orthostatic hypotension, Hypotension, Hypovolemia, Growth delay, Failure to t...	ORPHA:427
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	3-Methylglutaconic aciduria, Hypertrophic cardiomyopathy	OMIM:614053
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Absent tibia, Hand monodactyly, Bifid femur, Foot monodactyly	OMIM:228250
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Sjögren-Larsson Syndrome	Inflammatory abnormality of the eye, Abnormal dental enamel morphology, Scoliosis, Kyphosis, Shor...	ORPHA:816
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis, Hyperglycinuria, Alopecia, Organic aciduria, Propionyl-CoA carboxylase def...	OMIM:210210
Marshall-Smith Syndrome	Kyphoscoliosis, Highly arched eyebrow, Hypertension, Premature ventricular contraction, Kyphosis,...	OMIM:602535
Basel-Vanagaite-Smirin-Yosef Syndrome	Atrial septal defect, Left superior vena cava draining to coronary sinus, Hypospadias, Cholelithi...	ORPHA:464738
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Cachexia, Slender build, Weight loss	OMIM:613662
Glycogen Storage Disease Ixa1	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype...	OMIM:306000
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Ectopic kidney, Elevated circu...	ORPHA:99413
Proteus Syndrome	Bronchogenic cyst, Enlarged kidney, Arteriovenous malformation, Lipoma, Abnormal form of the vert...	ORPHA:744
Mosaic Monosomy X	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Ectopic kidney, Elevated circu...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Ectopic kidney, Elevated circu...	ORPHA:99226
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Turner Syndrome	Cholestatic liver disease, Delayed puberty, Prolonged QT interval, Ectopic kidney, Elevated circu...	ORPHA:881
Protoporphyria, Erythropoietic, 1	Hypertriglyceridemia, Cholelithiasis, Eczematoid dermatitis, Edema, Hemolytic anemia, Hepatic fai...	OMIM:177000
Glycerol Kinase Deficiency	Hypertriglyceridemia, Muscular dystrophy, Chronic pancreatitis, Increased urinary glycerol, Short...	OMIM:307030
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Camptodactyly of fin...	ORPHA:568
Coenzyme Q10 Deficiency, Primary, 1	Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Decreased level of coenzyme ...	OMIM:607426
46,Xy Sex Reversal 11	Abnormal internal genitalia, Urogenital sinus anomaly, Aplasia of the uterus, Vanishing testis, G...	OMIM:273250
Fructose Intolerance, Hereditary	Bicarbonaturia, Gastrointestinal hemorrhage, Jaundice, Cirrhosis, Hepatomegaly, Elevated circulat...	OMIM:229600
Gm1-Gangliosidosis, Type Ii	Beaking of vertebral bodies, Sea-blue histiocytosis, Hepatomegaly, Platyspondyly, Scoliosis, Decr...	OMIM:230600
Hypochondroplasia	Disproportionate short-limb short stature, Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Panniculitis, Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Skin ras...	OMIM:617099
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hypertriglyceridemia, Subcutaneous panniculitis-like T-cell lymphoma, Panniculitis, Anemia, Hemop...	OMIM:618398
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Coronary artery calcification, Reduced left ventricular ejection fracti...	OMIM:614473
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Immunodeficiency 21	Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Myel...	OMIM:614172
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Medial flaring of the eyebrow, Hypospadias, Repeated pneumothora...	OMIM:617602
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Vertebral compression fracture, Loss of eyelas...	OMIM:263700
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Partial atrioventricular canal defect, Apnea, Thrombocytopenia, Lethargy	OMIM:620423
Ciliary Dyskinesia, Primary, 9	Chronic otitis media, Situs inversus totalis, Pneumonia, Recurrent otitis media, Chronic rhinitis...	OMIM:612444
Myotonic Dystrophy 1	Atrial flutter, Polyhydramnios, Frontal balding, Cholelithiasis, Respiratory distress, Atrial fib...	OMIM:160900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Scoliosis, Ascites, Aspiration pneumonia, Short stature, Low...	OMIM:301072
Thanatophoric Dysplasia Type 2	Polyhydramnios, Kyphosis, Increased nuchal translucency, Short stature, Patent ductus arteriosus,...	ORPHA:93274
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Atopic dermatitis, Colonic eosinophilia, Bronchiectasis, Eosinophilia, Ulcerative colitis	OMIM:617638
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Elevated alkaline phosphatase of bone origin, Hypertension, Ventricul...	ORPHA:51608
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating alkaline phosphatase concentration, P...	ORPHA:457077
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Stomach cancer, Giant hypertrophic ga...	ORPHA:2494
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
Schaaf-Yang Syndrome	Scoliosis, Kyphosis, Camptodactyly, Cryptorchidism, Short stature, Obesity, Thick eyebrow, Flexio...	OMIM:615547
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Hematuria, Recurrent respiratory infections, Vulvar neoplasm, Diffu...	ORPHA:1018
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Polyhydramnios, Hepatomegaly, Hypopigmentation of hair, Short stature, Growth delay, Splenomegaly...	OMIM:618541
Glossopharyngeal Neuralgia	Vascular dilatation, Bradycardia, Depression, Jaw claudication, Weight loss, Neoplasm, Syncope, S...	ORPHA:221098
46,Xy Sex Reversal 3	Gonadal dysgenesis, Clitoral hypertrophy, Penoscrotal hypospadias, Exaggerated rugosity of the la...	OMIM:612965
Vipoma	Neoplasm of the pancreas, Normochromic anemia, Ascites, Pituitary adenoma, Parathyroid adenoma, G...	ORPHA:97282
Cryptococcosis	Cirrhosis, Prostatitis, Mediastinal lymphadenopathy, Lymphoid leukemia, Respiratory distress, Ple...	ORPHA:1546
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Highly arched eyebrow, Lymphopenia, Intrauterine growth retardation, Neutro...	OMIM:618460
19Q13.11 Microdeletion Syndrome	Hypospadias, Sparse or absent eyelashes, Cachexia, Cryptorchidism, Sparse lateral eyebrow, Failur...	ORPHA:217346
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pancreatic aplasia, Pulmo...	ORPHA:2255
Achondroplasia	Neonatal short-limb short stature, Recurrent otitis media, Polyhydramnios, Rhizomelia, Respirator...	OMIM:100800
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Sialuria	Increased level of N-acetylneuraminic acid in urine, Hepatomegaly, Inguinal hernia, Scoliosis, Hi...	OMIM:269921
Fish-Eye Disease	Hepatomegaly, Lymphadenopathy, Angina pectoris, Splenomegaly, Atherosclerosis	ORPHA:79292
Bile Acid Synthesis Defect, Congenital, 2	Steatorrhea, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic trans...	OMIM:235555
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Postaxial polysyndactyly of foot, Short long bone, Shor...	OMIM:263520
Sarcosinemia	Pulmonic stenosis, Peroneal muscle weakness, Hypersarcosinuria, Hypertrophic cardiomyopathy	ORPHA:3129
Trichorhinophalangeal Syndrome Type 1	Leukonychia, Scoliosis, Hyperlordosis, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow,...	ORPHA:77258
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Atrioventricular canal defect, Scoliosis, Ventricular septal defe...	ORPHA:392
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Depression, Scoliosis, Hyperlordosis, Facial palsy, Kyphosis, Multiple joint contrac...	OMIM:128100
Nail-Patella Syndrome	Spondylolysis, Coronary artery dissection, Spondylolisthesis, Contracture of the distal interphal...	ORPHA:2614
Rhizomelic Dysplasia, Patterson-Lowry Type	Hyperlordosis, Rhizomelia, Abnormal form of the vertebral bodies	ORPHA:2831
Secondary Short Bowel Syndrome	Steatorrhea, Cholestasis, Dehydration, Growth delay, Enterocolitis, Failure to thrive, Weight los...	ORPHA:95427
Nijmegen Breakage Syndrome	Rhabdomyosarcoma, Cachexia, Pollakisuria, Neoplasm, T-cell lymphoma, Abnormal hair morphology, Sh...	ORPHA:647
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones...	ORPHA:2634
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis, Aplasia of the vagina, Abnormal external genitalia, Hirsutism, Aplasia...	OMIM:158330
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Polyhydramnios, Spina bifida occulta, Central apnea, Scoliosis, Kyphosis, Arthrogr...	OMIM:618291
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Atelectasis, Rectal abscess, Discoid lupus rash, Gr...	OMIM:306400
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Thoracolumbar scoliosis, Hip contracture, Severe short stature, Knee flexion contractur...	OMIM:313420
Adrenocortical Carcinoma	Elevated serum 11-deoxycortisol, Hypertension, Increased urinary cortisol level, Increased body w...	ORPHA:1501
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto...	OMIM:609441
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hematuria, Arachnoid hemangiomatosis, Glomerular sclerosis, Extraadrena...	ORPHA:29072
Eiken Syndrome	Fibular hypoplasia, Delayed epiphyseal ossification, Delayed ossification of carpal bones, Flat a...	OMIM:600002
Noonan Syndrome 10	Patent ductus arteriosus, Scoliosis, Pleural effusion, Hypertrophic cardiomyopathy, Increased nuc...	OMIM:616564
Partial Androgen Insensitivity Syndrome	Abnormality of secondary sexual hair, Blind vagina, Clitoral hypertrophy, Hypospadias, Azoospermi...	ORPHA:90797
Familial Chylomicronemia Syndrome	Hypertriglyceridemia, Perianal abscess, Jaundice, Depression, Acute pancreatitis, Decreased body ...	ORPHA:444490
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	B lymphocytopenia, Growth delay, Recurrent upper respiratory tract infections, Pneumonia, Chronic...	OMIM:614069
Noonan Syndrome 11	Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, Short stature	OMIM:618499
Frank-Ter Haar Syndrome	Beaking of vertebral bodies, Inguinal hernia, Scoliosis, Kyphosis, Umbilical hernia, Camptodactyl...	ORPHA:137834
Dysostosis, Stanescu Type	Abnormal dental enamel morphology, Scoliosis, Hyperlordosis, Kyphosis, Short stature, Exostoses, ...	ORPHA:1798
Wolf-Hirschhorn Syndrome	Chronic otitis media, Congenital diaphragmatic hernia, Abnormality of the gallbladder, Abnormal f...	ORPHA:280
17Q11 Microdeletion Syndrome	Delayed puberty, Rhabdomyosarcoma, Multiple mucosal neuromas, Pheochromocytoma, Hypertension, Kyp...	ORPHA:97685
2P15P16.1 Microdeletion Syndrome	Polyhydramnios, Supernumerary nipple, Aortic regurgitation, Multicystic kidney dysplasia, Inguina...	ORPHA:261349
Chronic Thromboembolic Pulmonary Hypertension	Exertional dyspnea, Neoplasm, Edema, Right ventricular dilatation, Depression, Pulmonary arterial...	ORPHA:70591
Atrial Septal Defect, Coronary Sinus Type	Exertional dyspnea, Left-to-right shunt, Right ventricular dilatation, Supraventricular arrhythmi...	ORPHA:99104
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Palmar telangiectasia, Hepatomegaly, Elevated circulating ...	OMIM:613471
Drug-Induced Autoimmune Hemolytic Anemia	Pallor	ORPHA:90037
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Breast hypoplasia, Postnatal growth retardation, Inguinal hernia...	ORPHA:1272
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly, Enamel hypoplasia, Sparse hair	OMIM:613576
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Back pain, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Abnormal form of the vertebral bodies, Scoliosis, Kyphos...	ORPHA:2635
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Exertional dyspnea, Concentric hypertrophic cardiomyopathy, Reduc...	OMIM:613243
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Cholelithiasis, Facial hypotonia, Decreased body weight, Patchy alopecia, Decreased testicular si...	OMIM:300534
Hsd10 Disease, Infantile Type	Cardiomegaly, Abnormal concentration of acylcarnitine in the urine, Hypertrophic cardiomyopathy, ...	ORPHA:391428
Multiple Endocrine Neoplasia, Type Iib	Pheochromocytoma, Scoliosis, Elevated urinary epinephrine level, Hyperlordosis, Kyphosis, Parathy...	OMIM:162300
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Cachexia, Scoliosis, Hypertension, Ascit...	OMIM:610965
Mitochondrial Complex I Deficiency, Nuclear Type 19	Scoliosis, Hypertrophic cardiomyopathy	OMIM:618241
Cockayne Syndrome	Delayed puberty, Urinary incontinence, Elevated circulating hepatic transaminase concentration, C...	ORPHA:191
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Depression, Howell-Jolly bodies, Organic aciduria, Poikilo...	OMIM:301310
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Kyphosis, Asplenia, Pulmonic stenosis, Camptodactyly, Cryptorchidi...	OMIM:619123
Cushing Disease	Hypertension, Increased body weight, Pituitary corticotropic cell adenoma, Adrenal hyperplasia, L...	ORPHA:96253
Sweet Syndrome	Small vessel vasculitis, Panniculitis, Acute myeloid leukemia, Anemia, Chronic lymphatic leukemia...	ORPHA:3243
Generalized Pustular Psoriasis	Congestive heart failure, Cheilitis, Elevated circulating hepatic transaminase concentration, Art...	ORPHA:247353
Ciliary Dyskinesia, Primary, 1	Chronic otitis media, Situs inversus totalis, Atelectasis, Recurrent bronchitis, Chronic rhinitis...	OMIM:244400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Postnatal growth retardation, Cryptorchidism, Decreased testicular size, Sparse hair, Short neck,...	ORPHA:251028
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Cardiomyopathy, Gingival bleeding, Inflammation of the large intestine,...	OMIM:203300
Basel-Vanagaite-Smirin-Yosef Syndrome	Hypospadias, Inguinal hernia, Scoliosis, Pulmonary arterial hypertension, Kyphosis, Recurrent pne...	OMIM:616449
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Spontaneous hematomas, Gastrointestinal hemorrhage, Intestinal polyposis, ...	ORPHA:774
Hall-Riggs Syndrome	Scoliosis, Kyphosis, Failure to thrive, Enamel hypoplasia, Irregular vertebral endplates, Platysp...	OMIM:234250
Gaucher Disease, Type Iiic	Calcification of the aorta, Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenos...	OMIM:231005
Diastrophic Dysplasia	Neonatal short-limb short stature, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Ca...	ORPHA:628
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Red urine, Increased urinary porphobilinoge...	OMIM:618892
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Ectopic kidney, Unilateral renal agenesis, Truncal obesity, Disproportionate short-limb s...	OMIM:616541
Diencephalic Syndrome	Cachexia, Neoplasm of the nervous system, Decreased body weight, Long penis	ORPHA:1672
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Lipoma, Pituitary growth hormone cell adenoma, Pituitary corticotrop...	ORPHA:913
Acute Disseminated Encephalomyelitis	Myelitis, Herpes simplex encephalitis, Optic neuritis, Viral hepatitis, Cerebral edema	ORPHA:83597
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Highly arched eyebrow, Low posterior hairline, Pulmonic stenosis, Sparse hair, Facial hemangioma,...	OMIM:617506
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Scaling skin, Microphthalmia, Skin ulcer, Anophthalmia, Dry skin, Atrial septal defect	ORPHA:2526
Bone Marrow Failure Syndrome 3	Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Pancytopenia, Incr...	OMIM:617052
Coffin-Siris Syndrome	Abnormal heart morphology, Intrauterine growth retardation, Hernia, Hypospadias, Scoliosis, Hirsu...	ORPHA:1465
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Intraalveolar phosph...	OMIM:615486
1P36 Deletion Syndrome	Hypoplasia of penis, Kyphosis, Abnormal eyebrow morphology, Hepatic steatosis, Myopathy, Abnormal...	ORPHA:1606
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Skeletal muscle atroph...	OMIM:617710
Achondroplasia	Cervical spinal canal stenosis, Disproportionate short stature, Rhizomelia, Kyphosis, Spinal cana...	ORPHA:15
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Renpenning Syndrome	Hypospadias, Cachexia, Decreased testicular size, Growth delay, Severe short stature, Skeletal mu...	ORPHA:3242
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Scoliosis, Atrophic scars, Hyperlordosis, Kyphosis, Bladder diverticulum	OMIM:617821
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Bronchiolitis, Double aortic arch, Failure to thrive, Apnea, Thrombocytopen...	OMIM:230900
Pseudoachondroplasia	Beaking of vertebral bodies, Childhood onset short-limb short stature, Disproportionate short-lim...	OMIM:177170
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Failure to thrive, Stroke, Cerebral edema, Lethargy	OMIM:237300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Acute rhabdomyolysis, Flexion contracture of toe, Scoliosis, Kyphosis, Finger joint contracture, ...	ORPHA:48431
Autosomal Recessive Spastic Paraplegia Type 53	Failure to thrive, Kyphosis, Upper limb hypertonia	ORPHA:319199
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Lymphangiectasia, Intestinal	Stillbirth, Intestinal lymphangiectasia, Abnormal hair morphology, Lymphopenia, Edema, Pedal edema	OMIM:152800
Acromesomelic Dysplasia 4	Beaking of vertebral bodies, Disproportionate short stature, Rhizomelia, Synophrys, Short stature...	OMIM:619636
Rett Syndrome	Prolonged QTc interval, Cachexia, Scoliosis, Kyphosis, Short stature, Apnea, Skeletal muscle atro...	OMIM:312750
Noonan Syndrome 1	Kyphoscoliosis, Low posterior hairline, Pulmonic stenosis, Bruising susceptibility, Abnormal blee...	OMIM:163950
Osteomesopyknosis	Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies	ORPHA:2777
Osteootohepatoenteric Syndrome	Portal fibrosis, Anemia, Microvesicular hepatic steatosis, Cholestasis, Dehydration, Prolonged ne...	OMIM:619377
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Failure to thrive, Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:5
Intellectual Developmental Disorder, Autosomal Dominant 73	Recurrent otitis media, Hydroureter, Inguinal hernia, Aortic aneurysm, Highly arched eyebrow, Sco...	OMIM:620450
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Prolonged prothrombin time, Oroticaciduria, Stroke, Reduced hepatic ornithine transcarbamylase ac...	OMIM:311250
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Kearns-Sayre Syndrome	Hypoparathyroidism, Renal tubular acidosis, Ragged-red muscle fibers, Cardiomyopathy, Short statu...	OMIM:530000
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Vertebral compression fracture, Pleural effusion, N...	ORPHA:29073
Cockayne Syndrome A	Hypertension, Kyphosis, Splenomegaly, Sparse hair, Intrauterine growth retardation, Short stature...	OMIM:216400
Pelvis-Shoulder Dysplasia	Prominent protruding coccyx, Facial hirsutism, Abnormal form of the vertebral bodies, Neonatal sh...	ORPHA:2839
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased heart rate variability, Highly arched eyebrow, Scoliosis, Decreased body ...	OMIM:619005
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Kyphoscoliosis, Ischemic stroke, Emphysema, Unilateral renal agenesis, Patent ductus arteriosus a...	ORPHA:500150
Isolated Permanent Neonatal Diabetes Mellitus	Lower-limb joint contracture, Pancreatic hypoplasia, Dehydration, Hypovolemia, Glycosuria, Reduce...	ORPHA:99885
Acth-Independent Macronodular Adrenal Hyperplasia	Depression, Macronodular adrenal hyperplasia, Hypertension, Kyphosis, Adrenal hyperplasia, Skelet...	OMIM:219080
Cockayne Syndrome B	Hypertension, Kyphosis, Severe short stature, Splenomegaly, Sparse hair, Intrauterine growth reta...	OMIM:133540
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Scoliosis, Kyphosis, Cryptorchidism, Short neck, Flexion contracture, Minicore myopathy, Arthrogr...	ORPHA:178148
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Delayed puberty, Distal lower limb amyotrophy, Hypospadias, Kyphosis, Cryptorchidism, Decreased t...	OMIM:300354
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Inflammatory abnormality of the eye, Ec...	ORPHA:379
Senior-Boichis Syndrome	Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentration, Hypertension, Cholest...	ORPHA:84081
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Biconvex vertebral bodies, Abnormal vertebral morphology, Iron deficiency anemia, Intervertebral ...	ORPHA:93315
Peritoneal Cystic Mesothelioma	Menorrhagia, Weight loss, Peritonitis, Neoplasm	ORPHA:168816
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Disproportionate short-limb short stature, Obesity, Irregular vert...	ORPHA:174
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Scoliosis, Kyphosis, Distal upper limb amyotrophy	ORPHA:101075
Pure Mitochondrial Myopathy	Recurrent myoglobinuria, Scoliosis, Scapular winging, Shoulder girdle muscle weakness, Rhabdomyol...	ORPHA:254854
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Inguinal hernia, Aplasia of the vagina, Scoliosis, Hemivertebrae, Aplasia of the uterus, Absent e...	OMIM:271520
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Bradykinesia, Hypomimic face, Prolonged prothrombin time, Jaundice, Hepatomegaly, Elevated circul...	ORPHA:309854
Juvenile Huntington Disease	Depression, Weight loss, Bradykinesia	ORPHA:248111
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cowden Syndrome 1	Carcinoma, Thyroiditis, Scoliosis, Breast carcinoma, Kyphosis, Hamartomatous polyposis, Transitio...	OMIM:158350
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Premature graying of hair, Lipoatrophy, Abnormal hair morphology, Cachexia, Reduced subcutaneous ...	ORPHA:1979
Mucoepithelial Dysplasia, Hereditary	Coarse hair, Corneal neovascularization, Nail dystrophy, Hematuria, Melena, Chronic mucocutaneous...	OMIM:158310
Sialuria	Prolonged prothrombin time, Hepatomegaly, Elevated circulating hepatic transaminase concentration...	ORPHA:3166
Opitz-Kaveggia Syndrome	Frontal upsweep of hair, Sacral dimple, Hypospadias, Inguinal hernia, Camptodactyly, Cryptorchidi...	OMIM:305450
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Increased mean corpuscular volume, Highly arched eyebrow, Scoliosis, Kyphos...	ORPHA:261250
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Limb hypertonia, Reduced circulating aromatic L-amino acid decarboxylase activity, H...	OMIM:608643
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Kyphoscoliosis, Highly arched eyebrow, Ventricular hypertrophy, Kyphosis, Pulmonic stenosis, Aort...	OMIM:143095
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233710
Intellectual Developmental Disorder, X-Linked 112	Kyphoscoliosis, Ectopic kidney, Hypospadias, Horseshoe kidney, Enuresis nocturna, Vesicoureteral ...	OMIM:301111
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Facial hypotonia, Cachexia, Scoliosis, Failure to thrive in infancy, Hip contracture, Intrauterin...	OMIM:616801
Acute Adrenal Insufficiency	Renal salt wasting, Delayed puberty, Normocytic anemia, Orthostatic hypotension, Stroke, Recurren...	ORPHA:95409
Zimmermann-Laband Syndrome 2	Hirsutism, Kyphosis, Long eyelashes, Synophrys, Short stature, Thick eyebrow, Short neck, Macrogl...	OMIM:616455
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Pancreatitis, Lipoma, Hypercalciuria, Testicul...	ORPHA:143
Smith-Mccort Dysplasia 2	Hyperlordosis, Decreased body weight, Short stature, Hypoplasia of the odontoid process, Dispropo...	OMIM:615222
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Scoliosis, Kyphosis, Short stature, Obesity, Foot dorsiflexor weakness	OMIM:618124
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o...	OMIM:227270
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Delayed puberty, 3-Methylglutaconic aciduria, Lower limb amyotrophy, Scoliosis, Hypertrophic card...	ORPHA:496790
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Homocystinuria, Stroke, Failure to thrive,...	ORPHA:395
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Chronic oral candidiasis, Acute otitis media, Impaired lymphocyte transformation with phytohemagg...	ORPHA:35078
Genetic Transient Congenital Hypothyroidism	Thyroid hypoplasia, Prolonged neonatal jaundice, Umbilical hernia, Edema, Goiter, Macroglossia, L...	ORPHA:226316
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Exertio...	OMIM:187300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Recurrent otitis media, Impaired lymphocyte transformation with phytohemagglutinin, Absent periph...	OMIM:600802
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Absent tibia, Bilateral talipes equinovarus, Mirror image foot polydactyly, ...	OMIM:119800
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Discoid lupus rash, Granulomatosis,...	OMIM:233690
Pituitary Adenoma 4, Acth-Secreting	Purpura, Vertebral compression fracture, Hypertension, Hirsutism, Nephrolithiasis, Kyphosis, Bico...	OMIM:219090
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Flynn-Aird Syndrome	Cachexia, Scoliosis, Kyphosis, Skeletal muscle atrophy, Atherosclerosis, Alopecia	ORPHA:2047
Harel-Yoon Syndrome	Scoliosis, Distal amyotrophy, Hypertrophic cardiomyopathy	OMIM:617183
Trisomy 8P	Abnormal lung lobation, Annular pancreas, Sacral dimple, Abnormal left ventricle morphology, Peri...	ORPHA:264450
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Moynahan Syndrome	Short stature, Cachexia, Sparse hair, Alopecia	ORPHA:2574
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Elevated circulating hepatic transaminase ...	ORPHA:324737
Trichinellosis	Skin rash, Facial palsy, Retinal hemorrhage, Central retinal artery occlusion, Conjunctivitis, Ed...	ORPHA:863
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Depression, Ragged-red muscle fibers, Cardiomyopathy, EMG: myopathic abnormalities, ...	OMIM:609286
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Cervical C2/C3 vertebral fusion, Lim...	OMIM:617190
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Abnormal aortic morphology, Cardiomyopathy, Arrhythmia, Renal insufficiency	ORPHA:3222
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Melena, Cachexia, Adenomatous colonic pol...	ORPHA:79076
Turnpenny-Fry Syndrome	Tricuspid valve prolapse, Polyhydramnios, Aortic regurgitation, Torticollis, Facial hypotonia, Re...	OMIM:618371
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject...	ORPHA:444013
Ophthalmomandibulomelic Dysplasia	Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Mesomelia, Rad...	OMIM:164900
Riboflavin Transporter Deficiency	Cachexia, Hypertension, Facial palsy, Limb muscle weakness, Skeletal muscle atrophy	ORPHA:97229
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Platyspondyly, Rhizomelia, Disproportionate short-limb short stature, Hyperlordosis, Kyphosis, Hy...	OMIM:618019
Encephalitis Lethargica	Urinary incontinence, Bradycardia, Upper limb muscle weakness, Lethargy, Hyperventilation	ORPHA:83600
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Weight loss, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Urinary incontinence, Scoliosis, Kyphosis, Short stature, Obesity, Absent pubertal growth spurt	ORPHA:464282
Metatropic Dysplasia	Kyphoscoliosis, Caudal appendage, Relatively short spine, Disproportionate short-limb short statu...	OMIM:156530
Cardiofaciocutaneous Syndrome	Sparse or absent eyelashes, Low posterior hairline, Pulmonic stenosis, Sparse hair, Fine hair, Br...	ORPHA:1340
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Abnormality of hair texture, Chronic rhinitis, Pulmonary a...	ORPHA:667
Prune1-Related Neurological Syndrome	Scoliosis, Hypertrophic cardiomyopathy	ORPHA:544469
D-2-Hydroxyglutaric Aciduria 1	Glutaric aciduria, Aortic regurgitation, Cardiomyopathy, Apnea, D-2-hydroxyglutaric aciduria	OMIM:600721
Graves Disease	Congestive heart failure, Goiter, Abnormal abdomen morphology, Weight loss	OMIM:275000
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Hypertrophic cardiomyopathy, Cryptorchidism, Umbilical hernia, Failure to thrive, Patent ductus a...	OMIM:612938
Thrombocytopenia-Absent Radius Syndrome	Femoral bowing, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hypoplasia of the hu...	OMIM:274000
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Broad eyebrow, Patent foramen ovale, Vesicoureteral reflux, Scolio...	OMIM:616975
Inflammatory Bowel Disease (Crohn Disease) 1	Recurrent aphthous stomatitis, Crohn's disease, Growth delay, Inflammation of the large intestine...	OMIM:266600
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Highly arched eyebrow, Scoliosis, Arthrogryposis multiplex congeni...	OMIM:618143
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Hypertrophic cardiomyopathy, Renal hypoplasia, Oligohydramnios, Ketonuria	OMIM:619053
Pelizaeus-Merzbacher Disease	Arteriovenous malformation, Cachexia, Scoliosis, Kyphosis, Short stature, Failure to thrive in in...	ORPHA:702
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect	OMIM:206900
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Renal artery stenosis, Short stature, Generalized arteria...	OMIM:208000
Baralle-Macken Syndrome	Obesity, Urinary incontinence, Hirsutism, Kyphosis	OMIM:619255
Lethal Acantholytic Erosive Disorder	Absent hair, Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Intrauterine growth retardation...	ORPHA:158687
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomegaly, Intrauteri...	OMIM:618838
Immunodeficiency 9	Amelogenesis imperfecta, Recurrent aphthous stomatitis, Abnormal natural killer cell count, Stoma...	OMIM:612782
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Hypoplasia of penis, Kyphosis, Abnormality of the ureter, Short statu...	ORPHA:3409
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial...	OMIM:613874
Nail-Patella Syndrome	Hematuria, Scoliosis, Biceps aplasia, Quadriceps aplasia, Nephrotic syndrome, Back pain, Short st...	OMIM:161200
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Anophthalmia	ORPHA:1101
Hereditary Fructose Intolerance	Hepatomegaly, Jaundice, Reduced circulating aldolase concentration, Chronic hepatic failure, Grow...	ORPHA:469
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Hepatomegaly, Apnea, Splenomegaly, Recurrent respirat...	OMIM:617050
Arthrogryposis, Distal, Type 5	Exertional dyspnea, Firm muscles, Scoliosis, Congenital finger flexion contractures, Kyphosis, Sh...	OMIM:108145
Spondyloepiphyseal Dysplasia Congenita	Spinal rigidity, Cervical instability, Scoliosis, Abnormally ossified vertebrae, Kyphosis, Growth...	ORPHA:94068
Smith-Lemli-Opitz Syndrome	Cholestatic liver disease, Hypertension, Splenomegaly, Intrauterine growth retardation, Hypochole...	OMIM:270400
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Polyhydramnios, Foam cells, Bone-marrow foam cell...	OMIM:607625
Dyrk1A-Related Intellectual Disability Syndrome	Kyphosis, Aortic valve stenosis, Intrauterine growth retardation, Oligohydramnios, Breast hypopla...	ORPHA:464306
Familial Glucocorticoid Deficiency	Renal salt wasting, Hypotension, Hypertrophic cardiomyopathy, Cryptorchidism, Failure to thrive, ...	ORPHA:361
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Delayed puberty, Sacral dimple, Respiratory distress, Cyst of the ductus choledochus, Scoliosis, ...	ORPHA:480880
Weill-Marchesani Syndrome 2	Congestive heart failure, Flexion contracture of toe, Scoliosis, Elbow flexion contracture, Propo...	OMIM:608328
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Scoliosis, Hypertrichosis, Kyphosis, Synophrys	ORPHA:85317
Autosomal Recessive Hypophosphatemic Rickets	Pseudo-fractures, Hypophosphatemic rickets, Rickets of the lower limbs, Increased bone mineral de...	ORPHA:289176
8P Inverted Duplication/Deletion Syndrome	Frontal balding, Dextrocardia, Scoliosis, Synophrys, Cryptorchidism, Abnormal heart morphology, H...	ORPHA:96092
Vici Syndrome	Renal tubular acidosis, Cardiomyopathy, Short stature, Ureteral atresia, Recurrent respiratory in...	ORPHA:1493
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Neonatal short-trunk short stature, Scoliosis, Kyphosis, Atlantoaxial insta...	OMIM:183900
Congenital Tufting Enteropathy	Cholestatic liver disease, Steatorrhea, Arthritis, Dehydration, Punctate keratitis, Failure to th...	ORPHA:92050
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Delayed puberty, Lumbar kyphosis, Bilateral camptodactyly, Short stature, Back pain, Growth delay...	OMIM:619234
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Severe postnatal growth retardation, Polycystic kidney dysplasia, Vesi...	ORPHA:2237
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Facial edema, Minimal change glomerulonephritis, Hypertension, Pleural effusion,...	ORPHA:567546
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Kyphoscoliosis, Disproportionate short stature, Thoracolumbar kyphosis, Platyspondyly, Cervical i...	OMIM:617425
Weill-Marchesani Syndrome 1	Scoliosis, Proportionate short stature, Pulmonic stenosis, Aortic valve stenosis, Spinal canal st...	OMIM:277600
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Posterior uveitis, Weight loss, B-cell lymp...	ORPHA:52417
Cowden Syndrome	Lipoma, Neoplasm of the skin, Kyphosis, Neoplasm, Neoplasm of the central nervous system, Adenoma...	ORPHA:201
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Rhizomelia, Short stature, Joint contracture, Cryptorchidism, Lumbar hyperlordosis	OMIM:602471
Hennekam-Beemer Syndrome	Scoliosis, Hypotension, Mastocytosis, Short stature, Failure to thrive, Camptodactyly of finger, ...	ORPHA:2135
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Kyphosis, Aortic valve stenosis, Flexion contracture of finger, Intrauterine growth retardation, ...	ORPHA:464311
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Decreased liver function, Elevated circulating hepatic transaminase concentration, Cholangitis, E...	OMIM:124000
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Hydranencephaly	Postnatal growth retardation, Abnormal internal carotid artery morphology, Dilatation of the vent...	ORPHA:2177
Huntington Disease	Bradykinesia, Decreased body mass index, Depression, Weight loss, Apathy	ORPHA:399
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	3-Methylglutaconic aciduria, Hypospadias, Inguinal hernia, Hypertension, Hypertrophic cardiomyopa...	OMIM:614052
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement...	OMIM:619472
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Aortic regurgitation, Broad eyebrow, Scoliosis, Hemivertebra...	OMIM:617140
Hyper-Igd Syndrome	Chronic oral candidiasis, Lymphadenopathy, Arthritis, Skin rash, Lymphadenitis, Leukocytosis, Neu...	OMIM:260920
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Abnormal hair morphology, Hypoplasia of penis, Slow-growing hair, Uncombable hair, Kyphosis, Shor...	ORPHA:3082
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, HbH hemoglobin, Perimembranous ventricular septal defect, Postnatal growth retard...	OMIM:301040
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Premature occlusive vascular stenosis, Arteriosclerosis, Angina pect...	OMIM:177850
Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Mucopolysacchariduria, Rhinitis, Splenomegaly	ORPHA:93474
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Cirrhosis, Exertional dyspnea, Dyspnea, Hypertrophic cardiomyopathy, Glycosuria, Failure to thriv...	OMIM:616539
Leopard Syndrome 2	Short stature, Short neck, Hypertrophic cardiomyopathy, Curly hair	OMIM:611554
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Gonadoblastoma, Vesicoureteral reflux, Cardi...	OMIM:130650
Pyomyositis	Testicular teratoma, Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, ...	ORPHA:764
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Embryonal ne...	OMIM:312870
Lateral Meningocele Syndrome	Inguinal hernia, Aortic aneurysm, Neurogenic bladder, Scoliosis, Kyphosis, Cryptorchidism, Biconc...	OMIM:130720
Saul-Wilson Syndrome	Short metatarsal, Talipes equinovarus, Cone-shaped epiphyses of the phalanges of the hand, Flared...	OMIM:618150
Hereditary Elliptocytosis	Postnatal growth retardation, Jaundice, Hydrops fetalis, Cholelithiasis, Reticulocytosis, Poikilo...	ORPHA:288
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Spinocerebellar Ataxia 48	Depression, Cachexia, Urinary incontinence	OMIM:618093
Holoprosencephaly	Microphthalmia, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:2162
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Hypoplastic aortic arch, Scoliosis, Kyphosis, Obesity, Hydronephrosis,...	OMIM:620511
Cohen Syndrome	Delayed puberty, Thick hair, Scoliosis, Abnormal eyelash morphology, Kyphosis, Long eyelashes, Cr...	ORPHA:193
Elliptocytosis 1	Pallor	OMIM:611804
Ehlers-Danlos Syndrome, Vascular Type	Repeated pneumothoraces, Cigarette-paper scars, Descending aortic dissection, Mitral valve prolap...	OMIM:130050
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive...	ORPHA:97292
Lead Poisoning	Abnormal T cell morphology, Cranial hyperostosis, Decreased HDL cholesterol concentration, Anemia...	ORPHA:330015
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Increased muscle glycogen content, Exercise-induced myoglobinuria, Glycogen ...	ORPHA:368
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Cheilitis, Neoplasm of the skin, Kyphosis, Nephrocalcinosi...	ORPHA:534
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Coronary sin...	OMIM:618280
Desbuquois Dysplasia 2	Postnatal growth retardation, Synophrys, Severe short stature, Platyspondyly, Short neck, Truncal...	OMIM:615777
Alpha-Mannosidosis, Infantile Form	Platyspondyly, Aortic regurgitation, Pancytopenia, Depression, Abnormal circulating enzyme concen...	ORPHA:309282
Classical-Like Ehlers-Danlos Syndrome Type 2	Kyphoscoliosis, Hypertriglyceridemia, Kyphosis, Mitral valve prolapse, Umbilical hernia, Cellulit...	ORPHA:536532
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Hirsutism, T lymphocytopenia, Pulmona...	OMIM:617237
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Hypospadias, Respiratory distress, Cardiomyopathy, Patent ductus arteriosus, Hernia, Short neck, ...	OMIM:217980
Spondylocostal Dysostosis 3, Autosomal Recessive	Supernumerary vertebral ossification centers, Scoliosis, Vertebral segmentation defect, Kyphosis,...	OMIM:609813
Pmm2-Cdg	Kyphoscoliosis, Elevated circulating hepatic transaminase concentration, Pericarditis, Multiple r...	ORPHA:79318
Diamond-Blackfan Anemia 1	Hypoplastic coccygeal vertebrae, Macrocytic anemia, Absent thumb, Hypoplastic sacral vertebrae, C...	OMIM:105650
Tay-Sachs Disease	Pallor	OMIM:272800
Plague	Hematemesis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Skin ras...	ORPHA:707
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Weakness of facial musculature, Depression, Ragged-red muscle fibers, Scapular winging, Muscle fi...	OMIM:607459
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hypertrophic cardiomyopathy, Mitral valve...	ORPHA:2556
Koolen-De Vries Syndrome	Ureteral duplication, Hypospadias, Hypopigmentation of hair, Abnormal dental enamel morphology, S...	ORPHA:96169
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia, Distal amyotrophy, Nonprogressive muscular atrophy	ORPHA:1216
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Cachexia, Scoliosis, Elbow flexion contracture, EMG: myopathic abnormal...	ORPHA:371364
Bardet-Biedl Syndrome	Hypertriglyceridemia, Childhood-onset truncal obesity, Elevated circulating hepatic transaminase ...	ORPHA:110
Marinesco-Sjogren Syndrome	Scoliosis, Rimmed vacuoles, Kyphosis, Short stature, Failure to thrive, Centrally nucleated skele...	OMIM:248800
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Large for gestational age, Hydroureter, Hypercalciuria, Scoliosis, Restrictive cardiomyopathy, Re...	OMIM:615398
Congenital Total Pulmonary Venous Return Anomaly	Exertional dyspnea, Cardiomegaly, Apneic episodes in infancy, Mixed total anomalous pulmonary ven...	ORPHA:99125
Dyggve-Melchior-Clausen Disease	Beaking of vertebral bodies, Postnatal growth retardation, Scoliosis, Thoracic kyphosis, Rhizomel...	OMIM:223800
X-Linked Charcot-Marie-Tooth Disease Type 4	Scoliosis, Skeletal muscle atrophy, Kyphosis	ORPHA:101078
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aor...	ORPHA:1457
Cystinosis, Nephropathic	Delayed puberty, Generalized aminoaciduria, Splenomegaly, Stage 5 chronic kidney disease, Myopath...	OMIM:219800
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Mitochondrial Dna-Associated Leigh Syndrome	Hyperventilation, Hepatomegaly, Abnormality of Krebs cycle metabolism, Ragged-red muscle fibers, ...	ORPHA:255210
Townes-Brocks Syndrome 2	Hypospadias, Spina bifida occulta, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Bifid ...	OMIM:617466
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Inguinal hernia, Scoliosis, Kyphosis, Short stature, Acne, Atrial septal defect, Ventricular sept...	ORPHA:261190
Hip Dysplasia, Beukes Type	Scoliosis, Osteoarthritis, Kyphosis	ORPHA:2114
Choreoacanthocytosis	Bradykinesia, Hepatomegaly, Depression, Arthritis, Distal amyotrophy, Abnormal erythrocyte enzyme...	ORPHA:2388
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Corneal neovascularization, Hepatomegaly, Elevated circulating hepati...	ORPHA:404454
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Kleefstra Syndrome 2	Growth delay, Scoliosis, Thick eyebrow, Kyphosis	OMIM:617768
Acromesomelic Dysplasia 1	Beaking of vertebral bodies, Disproportionate short-limb short stature, Lower thoracic kyphosis, ...	OMIM:602875
Hemophagocytic Syndrome Associated With An Infection	Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,...	ORPHA:158048
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Large for gestational age, Polyhydramnios, Loose anagen hair, Aortic regurgitation, Inguinal hern...	OMIM:607721
Addison Disease	Renal salt wasting, Delayed puberty, Normocytic anemia, Primary testicular failure, Orthostatic h...	ORPHA:85138
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Internally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Calf muscle...	OMIM:618138
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Kyphoscoliosis, Delayed puberty, Patent foramen ovale, Scoliosis, Ventricular septal defect, Kyph...	OMIM:300967
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Aortic valve stenosis, Pulmonic stenosis, Abnormal heart morphology, Neoplasm,...	ORPHA:353281
Alexander Disease Type I	Cachexia, Scoliosis, Failure to thrive	ORPHA:363717
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Nail dystrophy, Anemia, Cachexia, Hamartomatous polyposis, Hematochezia, Gastrointestinal carcino...	OMIM:175500
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278740
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Pneumonia, Vasculitis in the skin, Salmonella osteomyelitis, Lymphadenitis	ORPHA:319552
8P11.2 Deletion Syndrome	Sacral dimple, Hypoplasia of penis, Spherocytosis, Short stature, Growth delay, Splenomegaly, Mit...	ORPHA:251066
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Truncus arteriosus, Anophthalmia, Microphthalmia	ORPHA:2538
Combined Oxidative Phosphorylation Deficiency 5	Edema, Ascites, Hypertrophic cardiomyopathy, Growth delay	OMIM:611719
Marfanoid-Progeroid-Lipodystrophy Syndrome	Lipoatrophy, Generalized lipodystrophy, Aortic root aneurysm, Hypertension, Scapular winging, Kyp...	OMIM:616914
Rheumatoid Arthritis	Vasculitis, Rheumatoid arthritis, Digital flexor tenosynovitis, Weight loss, Joint swelling	OMIM:180300
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Ovoid vertebral bodies, Disproportionate short-limb short stature, Lumbar hyperlor...	OMIM:608728
Campomelic Dysplasia	Fibular hypoplasia, Poorly ossified cervical vertebrae, 11 pairs of ribs, Tracheomalacia, Tracheo...	ORPHA:140
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Joint hypermobility, Micrognathia, Persistence of hemoglobin F	OMIM:617101
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Highly arched eyebrow, Low posterior hairline, I...	OMIM:122470
Aspartylglucosaminuria	Beaking of vertebral bodies, Hepatomegaly, Spondylolysis, Spondylolisthesis, Hernia, Vacuolated l...	OMIM:208400
Prader-Willi Syndrome	Hypertriglyceridemia, Delayed puberty, Kyphosis, Edema, Intrauterine growth retardation, Oligohyd...	OMIM:176270
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Scoliosis, Kyphosis, Limb muscle weakness, Lower limb muscle weakness	OMIM:614409
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Dyspnea, Hypertrophic cardiomyopathy, Myocard...	OMIM:613873
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Bicuspid aortic valve, Platyspondyly, Rhizomelia, Inguinal herni...	OMIM:245600
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Robinow Syndrome, Autosomal Dominant 3	Sacral dimple, Patent foramen ovale, Vesicoureteral reflux, Scoliosis, Pulmonary artery atresia, ...	OMIM:616894
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respiratory infect...	OMIM:618042
Wolfram Syndrome	Delayed puberty, Gastrointestinal hemorrhage, Anemia, Central apnea, Dysuria, Cardiomyopathy, Abn...	ORPHA:3463
Osteogenesis Imperfecta, Type Viii	Osteopenia, Slender long bone, Femoral retroversion, Femoral bowing, Tibial bowing, Decreased sku...	OMIM:610915
Chronic Graft Versus Host Disease	Pneumothorax, Nail dystrophy, Hematuria, Elevated circulating hepatic transaminase concentration,...	ORPHA:99921
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:394
Crisponi Syndrome	Scoliosis, Kyphosis, Camptodactyly of finger, Flexion contracture, Sudden cardiac death	ORPHA:1545
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Thanatophoric Dysplasia Type 1	Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Pa...	ORPHA:1860
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Fibular hypoplasia, Pseudoarthrosis	OMIM:607278
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Steatorrhea, Hypercalciuria, Dehydration, Biliary cirrhosi...	OMIM:219700
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal lung lobation, Hypertriglyceridemia, Hypoparathyroidism, Congenital megaureter, Hypercal...	ORPHA:369837
Spondylocarpotarsal Synostosis Syndrome	Inguinal hernia, Scoliosis, Hyperlordosis, Vertebral segmentation defect, Renal cyst, Enamel hypo...	OMIM:272460
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Scoliosis, Kyphosis, Short stature, Slender build, Hydronephrosis, Abnormality ...	ORPHA:364028
Primary Hyperoxaluria	Heart block, Hematuria, Aciduria, Elevated circulating hepatic transaminase concentration, Calciu...	ORPHA:416
Marfanoid Habitus With Situs Inversus	Situs inversus totalis, Aortic regurgitation, Aortic root aneurysm, Scoliosis, Kyphosis, Pulmonic...	OMIM:609008
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Kyphosis, Low posterior ...	ORPHA:2911
Pituitary Adenoma 1, Multiple Types	Hypertension, Pituitary growth hormone cell adenoma, Cardiomyopathy, Pituitary prolactin cell ade...	OMIM:102200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Premature graying of hair, Nail dystrophy, Pancytopenia, Bone marrow hypocellularity, Lymphopenia...	OMIM:619767
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Perianal abscess, Thrombocytosis, Iron deficiency anemia, Lymphocytosis, Chronic gastritis, Skin ...	OMIM:301074
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage, Corneal neovascularization, Telangiectasia	OMIM:278730
Saethre-Chotzen Syndrome	Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Short stature, Abnormal hair pat...	ORPHA:794
X-Linked Intellectual Disability, Cabezas Type	Inguinal hernia, Hypoplasia of penis, Cachexia, Scoliosis, Kyphosis, Synophrys, Decreased testicu...	ORPHA:85293
Pelvis-Shoulder Dysplasia	Short stature, Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Muscular dystrophy, Abnormality of the ovary, Kyphosis	ORPHA:1875
Huntington Disease-Like 1	Depression, Weight loss, Bradykinesia	ORPHA:157941
Rabson-Mendenhall Syndrome	Premature graying of hair, Thick hair, Long penis, Severe postnatal growth retardation, Hirsutism...	ORPHA:769
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Lipodystrophy, Dilated card...	OMIM:212112
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Ureteral duplication, Biliary atresia, Pulmonic stenosis, Umbili...	OMIM:600001
Christianson Syndrome	Cachexia, Decreased muscle mass, Thick eyebrow, Arthrogryposis multiplex congenita	ORPHA:85278
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Marfan Syndrome	Spondylolisthesis, Cachexia, Aortic tortuosity, Kyphosis, Arterial dissection, Mitral valve prola...	ORPHA:558
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Frontal upsweep of hair, Scoliosis, Hirsutism, Scapular winging, Kyphosis, Synophrys, Low anterio...	OMIM:617061
Cap Polyposis	Hematochezia, Weight loss, Atrophic gastritis, Colorectal polyposis	ORPHA:160148
Inflammatory Bowel Disease 11	Inflammation of the large intestine, Hematochezia, Weight loss	OMIM:191390
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Polycythemia, Methemoglobinemia	OMIM:250800
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Hypertrophic cardiomyopathy, Failure to thrive, Abnormal heart morphology, Palpitations,...	OMIM:618250
Pfeiffer Syndrome	Short stature, Short neck, Hyperlordosis	ORPHA:710
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278720
Acromelic Frontonasal Dysostosis	Patellar hypoplasia, Mesomelic leg shortening, Syndactyly, Preaxial hand polydactyly, Short tibia...	OMIM:603671
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Kyphosis, Vascular ring, Skeletal muscle atrophy, Thoracic scoliosis, A...	OMIM:603387
Distal Deletion 12Q	Kyphoscoliosis, Ectopic kidney, Biliary atresia, Pituitary adenoma, Fine hair, Polycystic kidney ...	ORPHA:96149
Omodysplasia 2	Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Dislocated r...	OMIM:164745
Distal Duplication 5Q	Dextrocardia, Hypospadias, Eczematoid dermatitis, Cryptorchidism, Short stature, Hernia, Ventricu...	ORPHA:96097
Congenital Erythropoietic Porphyria	Increased urinary porphobilinogen, Purple urine, Neoplasm of the skin, Red-brown urine, Recurrent...	ORPHA:79277
Cat Eye Syndrome	Tricuspid atresia, Biliary atresia, Vesicoureteral reflux, Total anomalous pulmonary venous retur...	OMIM:115470
Silver-Russell Syndrome	Postnatal growth retardation, Hypospadias, Cachexia, Scoliosis, Decreased testicular size, Short ...	ORPHA:813
Wieacker-Wolff Syndrome, Female-Restricted	Urinary incontinence, Polyhydramnios, Scoliosis, Facial palsy, Kyphosis, Short stature, Hip contr...	OMIM:301041
Renal Nutcracker Syndrome	Hematuria, Orthostatic hypotension, Anemia, Tachycardia, Renal artery stenosis, Vulval varicose v...	ORPHA:71273
Osteogenesis Imperfecta	Abnormal form of the vertebral bodies, Kyphosis, Arterial dissection, Biconcave vertebral bodies,...	ORPHA:666
Chromosome 17Q12 Deletion Syndrome	Nail dystrophy, Unilateral renal agenesis, Aplasia of the vagina, Highly arched eyebrow, Scoliosi...	OMIM:614527
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Kyphoscoliosis, Platyspondyly, Neonatal short-trunk short stature, Scoliosis, Elbow flexion contr...	ORPHA:93360
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Immunodeficiency 55	Postnatal growth retardation, Lymphadenopathy, Eczematoid dermatitis, Short stature, Lymphopenia,...	OMIM:617827
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hypoventilation, Scoliosis, Elbow flexion contracture, Kyphosis, Short stature, Obesity, Recurren...	OMIM:618493
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Foam cells, Bone-marrow foam cells, Prolonged neonatal jaun...	OMIM:257220
Hutchinson-Gilford Progeria Syndrome	Exertional dyspnea, Hypertension, Ventricular hypertrophy, Aortic valve stenosis, Abnormal mitral...	ORPHA:740
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Scoliosis, Aortic regurgitation, Kyphosis, Umbilical hernia	ORPHA:2181
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Scoliosis, Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness	OMIM:601152
Sponastrime Dysplasia	Kyphoscoliosis, Rhizomelia, Hypospadias, Hyperconvex vertebral body endplates, Abnormality of the...	ORPHA:93357
Protoporphyria, Erythropoietic, X-Linked	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Ataxia With Vitamin E Deficiency	Scoliosis, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:96
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Disproportionate short-limb short stature, Hypoplasia of penis, Kyphosis, U...	ORPHA:1507
Hirschsprung Disease	Neoplasm of the thyroid gland, Intestinal polyposis, Short stature, Weight loss, Failure to thriv...	ORPHA:388
Lymphedema-Distichiasis Syndrome	Yellow nails, Patent ductus arteriosus, Predominantly lower limb lymphedema, Chylothorax, Lymphed...	OMIM:153400
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Joubert Syndrome 32	Large for gestational age, Hypertrophic cardiomyopathy	OMIM:617757
Hemifacial Atrophy, Progressive	Poliosis, Patchy alopecia, Kyphosis	OMIM:141300
Cutis Laxa, Autosomal Recessive, Type Iid	Kyphoscoliosis, Congestive heart failure, Atrial septal defect, Pneumothorax, Inguinal hernia, As...	OMIM:617403
Ziegler-Huang Syndrome	Persistence of hemoglobin F, Macrocytic anemia, Neutropenia	OMIM:620501
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia	ORPHA:216866
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy	Kyphosis, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Lipodystrophy,...	OMIM:151800
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Abnormality of the gallbladder, Hypoplasia of penis, Abnormal fo...	ORPHA:818
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278700
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Scoliosis, Kyphosis	OMIM:617435
Bronchiolitis Obliterans	Pneumonia, Dyspnea, Respiratory tract infection, Bronchiectasis, Bronchiolitis obliterans	ORPHA:1303
Trisomy 20P	Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, Low posterior hairline, M...	ORPHA:261318
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Kyphosis, Secundum atrial septal defect, Low anterior hairline, Patent ductus ar...	OMIM:619909
Oeis Complex	Epispadias, Ambiguous genitalia, male, Hydroureter, Rectovaginal fistula, Vesicovaginal fistula, ...	OMIM:258040
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Rhabdomyolysis, Goiter, Weight loss, Tachycardia, Palpitations	OMIM:188580
4Q21 Microdeletion Syndrome	Scoliosis, Kyphosis, Synophrys, Long eyelashes, Growth delay, Generalized hirsutism, Intrauterine...	ORPHA:238750
Gray Platelet Syndrome	Abnormal bleeding, Abnormal number of alpha granules, Menorrhagia, Thrombocytopenia, Epistaxis, S...	OMIM:139090
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber dia...	ORPHA:119
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Coronary artery atherosclerosis, Angina pe...	OMIM:264800
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Kyphoscoliosis, Rhizomelia, Disproportionate short-limb short stature, Thoracic kyphosis, Lumbar ...	OMIM:271510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Widow's peak, Scoliosis, Horizontal eyebrow, Abnormal location of the eyebrow, Atrial septal defe...	ORPHA:522077
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Gastrointestinal carcinoma, Iron deficiency anemia, Precocious puberty ...	OMIM:175200
Intellectual Developmental Disorder, Autosomal Dominant 29	Hyperlordosis, Hirsutism, Synophrys, Obesity, Cryptorchidism, Lumbar hyperlordosis	OMIM:616078
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Primary testicular failure, Atrial fi...	OMIM:115250
Chromosome 3Q13.31 Deletion Syndrome	Decreased testicular size, Cryptorchidism, Micropenis, Kyphosis	OMIM:615433
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Hypomelanosis Of Ito	Scoliosis, Kyphosis, Alopecia	OMIM:300337
Fibrochondrogenesis 1	Narrow greater sciatic notch, Joint contracture of the hand, Fibular hypoplasia, Rhizomelia, Clin...	OMIM:228520
Gcgr-Related Hyperglucagonemia	Glucagonoma, Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage, Severe short stature, Telangiectasia	OMIM:278800
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Abnormal T cell morphology, Recurrent respiratory infections, Decrea...	ORPHA:760
Neurofibromatosis Type 1	Delayed puberty, Rhabdomyosarcoma, Spinal neurofibroma, Pheochromocytoma, Neoplasm of the skin, H...	ORPHA:636
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Delayed puberty, Palpebral edema, Elevated circulating hepatic transaminase concentration, Kyphos...	OMIM:619475
Neuroleptic Malignant Syndrome	Acute kidney injury, Urinary incontinence, Elevated circulating hepatic transaminase concentratio...	ORPHA:94093
Blau Syndrome	Iritis, Flexion contracture of toe, Arthritis, Tendonitis, Hypertension, Cystoid macular edema, S...	OMIM:186580
Atrial Standstill 2	Scarring, Vascular dilatation, Bradycardia, Stroke, Cardiomyopathy, Atrial arrhythmia, Dyspnea, D...	OMIM:615745
Costello Syndrome	Pneumothorax, Rhabdomyosarcoma, Lymphangiectasis, Polyhydramnios, Bladder carcinoma, Hypertrophic...	OMIM:218040
Neuropathy, Congenital Hypomyelinating, 3	Hypomimic face, Polyhydramnios, Cachexia, Facial diplegia, Neonatal death, Limb joint contracture...	OMIM:618186
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Palpebral edema, Abnormal salivary gland morphology, Keratoconjunctivit...	ORPHA:79078
Acheiropodia	Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,...	ORPHA:931
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Finger syndactyly, Split hand, Rudimentary to a...	ORPHA:958
Microphthalmia, Syndromic 2	Microphthalmia, Dextrocardia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Mitral valv...	OMIM:300166
Infantile Spasms-Broad Thumbs Syndrome	Vaginal hernia, Hypertrophic cardiomyopathy	ORPHA:3173
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	3-Methylglutaconic aciduria, Elevated urine acetoacetic acid level, Alpha-aminoadipic aciduria, C...	OMIM:620089
Ruvalcaba Syndrome	Delayed puberty, Inguinal hernia, Scoliosis, Kyphosis, Short stature, Cryptorchidism	OMIM:180870
Spastic Paraplegia 53, Autosomal Recessive	Lower limb hypertonia, Hypertrichosis, Kyphosis, Upper limb hypertonia	OMIM:614898
Perry Syndrome	Bradykinesia, Hypoventilation, Depression, Weight loss, Apathy, Central hypoventilation	OMIM:168605
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Weight loss, Conjunctival hamartoma	ORPHA:312
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Scoliosis, Facial diplegia, Hypertrophic cardiomyopathy, Growth delay, Sec...	OMIM:619121
Hereditary Orotic Aciduria	Anemia, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Patent...	ORPHA:30
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Hematochezia, Weight loss, Dehydration	ORPHA:103910
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Neoplasm of the gastrointestinal tract, Desmoid tumors, Duod...	ORPHA:733
Familial Tumoral Calcinosis	Hepatomegaly, Skin rash, Neoplasm of the skin, Calcification of muscles, Nephrocalcinosis, Spleno...	ORPHA:53715
Ruvalcaba Syndrome	Delayed puberty, Hematuria, Inguinal hernia, Abnormal vertebral epiphysis morphology, Scoliosis, ...	ORPHA:3121
Multiple Pterygium-Malignant Hyperthermia Syndrome	Abnormal circulating aldolase concentration, Polyhydramnios, Inguinal hernia, Capillary hemangiom...	ORPHA:2215
Pigmented Nodular Adrenocortical Disease, Primary, 1	Depression, Hypertension, Kyphosis, Bruising susceptibility, Increased urinary cortisol level, Pa...	OMIM:610489
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Highly arched eyebrow, Scoliosis, Kyphosis, Cryptorchidism, Abnormal heart morphology, Low anteri...	ORPHA:404440
Hyperglycinemia, Lactic Acidosis, And Seizures	Hypertrophic cardiomyopathy, Growth delay, Apnea, Joint contracture, Cerebral edema	OMIM:614462
Basal Ganglia Disease, Biotin-Thiamine Responsive	Lethargy	OMIM:607483
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Respiratory distress, Distal amyotrophy, Rimmed vacuoles, Autopha...	OMIM:164310
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Cardiomyopathy, Myopathy	ORPHA:1215
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Exertional dyspnea, Sinus venosus...	ORPHA:1478
Acrofacial Dysostosis, Rodríguez Type	Fibular hypoplasia, Finger syndactyly, Abnormal pelvic girdle bone morphology, Finger aplasia, Ap...	ORPHA:1788
Stickler Syndrome, Type I	Beaking of vertebral bodies, Spondylolisthesis, Arthritis, Scoliosis, Kyphosis, Morbus Scheuerman...	OMIM:108300
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Joubert Syndrome 5	Nephronophthisis, Renal cortical cysts, Impaired renal concentrating ability, Reduced renal corti...	OMIM:610188
Letterer-Siwe Disease	Pallor	OMIM:246400
Becker Nevus Syndrome	Lipoatrophy, Spina bifida occulta, Scoliosis, Kyphosis, Shoulder girdle muscle atrophy, Supernume...	ORPHA:64755
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Hematuria, Intramuscular hematoma, Gingival bleeding, Abnormal umbilical stump...	ORPHA:79
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia, Recurrent respiratory infections	ORPHA:1389
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Incontinentia Pigmenti	Pallor, Microphthalmia, Hypoplasia of the fovea, Erythema	OMIM:308300
Wolf-Hirschhorn Syndrome	Abnormal form of the vertebral bodies, Highly arched eyebrow, Kyphosis, Low posterior hairline, B...	OMIM:194190
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Scoliosis, Hirsutism, Kyphosis, Synophrys	OMIM:300861
Tetrasomy 12P	Cachexia, Short stature, Sparse eyebrow, Sparse hair, Short neck	ORPHA:884
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ...	OMIM:620066
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Recurrent otitis media, Disproportionate short-limb short stature, Scoliosis, Obesity, Lumbar hyp...	OMIM:250420
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Recurrent lower respiratory tract infections, Hypertension, Renal artery stenosis, Gr...	OMIM:617913
Leprechaunism	Postnatal growth retardation, Enlarged kidney, Hepatomegaly, Long penis, Hypercalciuria, Decrease...	ORPHA:508
Johanson-Blizzard Syndrome	Severe intrauterine growth retardation, Ascites, Urethrovaginal fistula, Splenomegaly, Intrauteri...	OMIM:243800
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Cowden Syndrome 6	Thyroiditis, Scoliosis, Kyphosis, Hamartomatous polyposis, Transitional cell carcinoma of the bla...	OMIM:615109
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Niemann-Pick Disease Type C	Jaundice, Hepatomegaly, Hydrops fetalis, Foam cells, Depression, Bone-marrow foam cells, Ascites,...	ORPHA:646
Pemphigus Vulgaris	Alopecia of scalp, Depression, Weight loss, Recurrent cutaneous abscess formation, Atypical scarr...	ORPHA:704
Marden-Walker Syndrome	Abnormal form of the vertebral bodies, Kyphosis, Severe short stature, Intrauterine growth retard...	ORPHA:2461
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Highly arched eyebrow, Aortic valve stenosis, Pulmonic ste...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Highly arched eyebrow, Aortic valve stenosis, Pulmonic ste...	ORPHA:353277
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Tracheobronchopathia Osteochondroplastica	Exertional dyspnea, Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurre...	ORPHA:3348
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Kyphosis, Inflammation of the large intestine, Pulmonary hypoplasia, Knee flexion co...	OMIM:619708
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Disproportionate short-limb short stature, Scoliosis, Kyphosis...	OMIM:259420
Clark-Baraitser syndrome	Scoliosis, Obesity, Kyphosis, Macroorchidism	OMIM:300602
Roifman-Chitayat Syndrome	Ectopic kidney, Arthritis, Umbilical hernia, Pneumonia, Short neck	OMIM:613328
Hec Syndrome	Polyhydramnios, Cardiomyopathy, Arrhythmia, Vaginal hydrocele, Endocardial fibroelastosis	ORPHA:2119
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hematuria, Aplasia of the vagina, Aplasia of the uterus, Nephrotic syndrome, Uterus didelphys, Ne...	OMIM:146255
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Abnormal heart morphology, Decreased resp...	ORPHA:444077
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Short stature, Scoliosis, Kyphosis	ORPHA:1858
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Venous malformation, Lipoma, Scoliosis, Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Noonan Syndrome 3	Tricuspid valve prolapse, Juvenile myelomonocytic leukemia, Polyhydramnios, Patent foramen ovale,...	OMIM:609942
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Cachexia, Short stature, Generalized hirsutism, Skeletal muscle atrophy, Methylmalonic aciduria, ...	ORPHA:1933
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Kyphosis, Umbilical hernia, Hydrops fetalis, Hypospadias, Inguin...	OMIM:265000
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Joint contracture of the 5th finger, Scoliosis, Kyphosis, Short stature, Camptodact...	ORPHA:1883
Autoimmune Pulmonary Alveolar Proteinosis	Foam cells, Crazy paving pattern, Intraalveolar phospholipid accumulation, Dyspnea, Increased cir...	ORPHA:747
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Scoliosis, Kyphosis, Slender build	OMIM:300676
Atelis Syndrome 2	Sacral dimple, Anemia, Dyspnea, Supravalvar pulmonary stenosis, Kyphosis, Pulmonic stenosis, Thro...	OMIM:620185
Steinert Myotonic Dystrophy	Elevated circulating hepatic transaminase concentration, Neoplasm of the skin, Facial diplegia, P...	ORPHA:273
Geleophysic Dysplasia 3	Polyhydramnios, Hepatomegaly, Dyspnea, Short stature, Pneumonia, Mitral regurgitation	OMIM:617809
Harrod Syndrome	Hypospadias, Scoliosis, Kyphosis, Failure to thrive, Intrauterine growth retardation, Cryptorchid...	ORPHA:2115
Campomelic Dysplasia	Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Tracheobronchomalaci...	OMIM:114290
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb hypertonia, Abnormal circulating enzyme concentration or activity, Cardiomyopathy, Generaliz...	ORPHA:572798
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Short neck, Rhizomelia, Lumbar hyperlordosis	OMIM:612813
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Cardiomegaly, Facial hypotonia	OMIM:618798
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Respiratory distress, Scoliosis, Facial palsy, Dyspnea, Kyphosis, Hand...	OMIM:211530
Alkaptonuria	Increased susceptibility to fractures, Myocardial infarction, Reduced bone mineral density, Arthr...	ORPHA:56
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Cardiomyopathy, Abnormality of the ureter, Abnormality of...	ORPHA:2842
Branchiooculofacial Syndrome	Premature graying of hair, Postnatal growth retardation, Hypospadias, Hyperlordosis, Elbow flexio...	OMIM:113620
Cowden Syndrome 5	Thyroiditis, Scoliosis, Kyphosis, Hamartomatous polyposis, Transitional cell carcinoma of the bla...	OMIM:615108
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Short neck, Rhizomelia, Lumbar hyperlordosis	ORPHA:171866
Intellectual Disability-Developmental Delay-Contractures Syndrome	Scoliosis, Distal amyotrophy, Kyphosis, Congenital foot contractures	ORPHA:3454
Toriello-Carey Syndrome	Postnatal growth retardation, Cardiomyopathy, Pulmonic stenosis, Short stature, Coarctation of ao...	ORPHA:3338
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Apnea, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:616896
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Scoliosis, Kyphosis	ORPHA:99014
Juvenile Amyotrophic Lateral Sclerosis	Urinary incontinence, Retrocollis, Lower-limb joint contracture, Cachexia, Scoliosis, Distal amyo...	ORPHA:300605
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Increased nuchal translucency	ORPHA:77300
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Lipoatrophy, Intrauterine growth retardation, Alopecia of scalp, Hypospadia...	OMIM:264090
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Infantile Krabbe Disease	Abnormal circulating enzyme concentration or activity, Respiratory distress, Cachexia, Failure to...	ORPHA:206436
Hyperlipoproteinemia, Type Id	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Premature coronary artery atherosclerosis, Fail...	OMIM:615947
Osteosarcoma	Increased circulating lactate dehydrogenase concentration, Weight loss, Joint swelling, Elevated ...	ORPHA:668
Yunis-Varon Syndrome	Hypertension, Cardiomyopathy, Cardiomegaly, Severe failure to thrive, Hydrops fetalis, Hypospadia...	ORPHA:3472
Frontorhiny	Scoliosis, Camptodactyly of finger, Pericallosal lipoma, Hypopituitarism, Lumbar hyperlordosis, W...	ORPHA:391474
Hyperbiliverdinemia	Decreased liver function, Green urine, Cholestasis, Cholelithiasis	OMIM:614156
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Aplasia of the epiglottis, Atrioventricular canal defect, Hepatomegaly, Polyhydramnios, Respirato...	OMIM:617088
Spinocerebellar Ataxia, Autosomal Recessive 8	Scoliosis, Kyphosis	OMIM:610743
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal tubular epithelial necrosis, Decreased glomerular filtration rate, Normochromic anemia, Cys...	ORPHA:91500
Paternal Uniparental Disomy Of Chromosome 6	Postnatal growth retardation, Hepatomegaly, Ventricular septal defect, Dehydration, Cryptorchidis...	ORPHA:96191
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Acromegaly	Palpebral edema, Anterior hypopituitarism, Long penis, Depression, Hypertension, Dysuria, Pituita...	ORPHA:963
Okamoto Syndrome	Urinary incontinence, Abnormal left ventricle morphology, Severe postnatal growth retardation, Pr...	ORPHA:2729
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Clinodactyly of the 5th finger, Joint stiffness, Abnormal hemoglobin, Brachydactyly, Flex...	ORPHA:847
Felty Syndrome	Rheumatoid arthritis, Splenomegaly, Neutropenia	OMIM:134750
Osteogenesis Imperfecta, Type Ix	Disproportionate short-limb short stature, Scoliosis, Kyphosis, Dentinogenesis imperfecta, Platys...	OMIM:259440
Complement Factor B Deficiency	Pneumonia, Peritonitis	OMIM:615561
Hepatoerythropoietic Porphyria	Scarring, Abnormal bleeding, Loss of eyelashes, Red urine, Abnormal circulating enzyme concentrat...	ORPHA:95159
Amyloidosis, Finnish Type	Orthostatic hypotension, Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, N...	OMIM:105120
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Fibular aplasia, Split foot, Short phalanx of finger, Brachydactyly, Aplasia/Hypoplasia of the fi...	OMIM:113310
Tibial Hemimelia	Absent tibia	OMIM:275220
Fumarase Deficiency	Pallor, Perimembranous ventricular septal defect	OMIM:606812
Sotos Syndrome	Chronic otitis media, Ureteral duplication, Kyphosis, Prolonged neonatal jaundice, Abnormal heart...	ORPHA:821
Leopard Syndrome 1	Kyphoscoliosis, Delayed puberty, Hypospadias, Unilateral renal agenesis, Spina bifida occulta, Hy...	OMIM:151100
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Acute rhabdomyolysis, Elevated circulating hepatic transaminase concentration, Prolonged QTc inte...	OMIM:616878
Alternating Hemiplegia Of Childhood	Facial hypotonia, Respiratory distress, Cardiomyopathy, Dehydration, Failure to thrive, Cardiac c...	ORPHA:2131
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
46,Xy Sex Reversal 7	Streak ovary, Abnormal epididymis morphology, Gonadoblastoma, Hypoplasia of the fallopian tube, G...	OMIM:233420
Acrodermatitis Enteropathica	Cheilitis, Short stature, Blepharitis, Pustule, Failure to thrive, Abnormal eyebrow morphology, W...	ORPHA:37
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Incr...	ORPHA:3203
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Short neck, Cachexia	ORPHA:1438
Bullous Pemphigoid	Psoriasiform dermatitis, Weight loss, Eczematoid dermatitis	ORPHA:703
Liposarcoma	Varicose veins, Sarcoma, Weight loss	ORPHA:69078
Short Syndrome	Inguinal hernia, Abnormal dental enamel morphology, Severe short stature, Lipodystrophy, Weight l...	ORPHA:3163
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tachycardia, Goiter, Weight loss	OMIM:613239
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Aortic aneurysm, Myocardial sarc...	OMIM:612422
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Cholelithiasis, Abnormal circulating enzyme concentration or activity, Depr...	ORPHA:909
Bruck Syndrome 1	Ankle flexion contracture, Vertebral wedging, Scoliosis, Elbow flexion contracture, Kyphosis, Sho...	OMIM:259450
Charge Syndrome	Microphthalmia, Abnormal aortic valve morphology, Anophthalmia, Tetralogy of Fallot, Abnormal car...	ORPHA:138
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Kyphosis, Obesity, Low anterior hairline, Proteinuria, Chronic kidney disease	ORPHA:261222
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Kyphosis, Aortic valve stenosis, Abnormal heart morphology, Intrauterine growth retardation, Olig...	ORPHA:268261
Intellectual Developmental Disorder, Autosomal Dominant 57	Contracture of the proximal interphalangeal joint of the 4th finger, Scoliosis, Kyphosis, Short s...	OMIM:618050
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Elbow flexion contracture, Split hand, Rudiment...	OMIM:200980
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Pulmonic stenosis, Abnormal heart morphology, Bicuspid aortic valve, Patent foramen ovale, Scolio...	ORPHA:438213
Fountain Syndrome	Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Synophrys, Shor...	ORPHA:3219
Mounier-Kühn Syndrome	Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections	ORPHA:3347
Friedreich Ataxia	Scoliosis, Cardiomyopathy, Hand muscle atrophy, Urinary bladder sphincter dysfunction	ORPHA:95
Adenohypophysitis	Pallor	ORPHA:95512
Pancreatic Triacylglycerol Lipase Deficiency	Steatorrhea, Iron deficiency anemia, Growth delay, Exocrine pancreatic insufficiency, Weight loss...	ORPHA:309031
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Homozygous Familial Hypercholesterolemia	Calcification of the aorta, Hypertension, Hyperlipidemia, Precocious atherosclerosis, Peripheral ...	ORPHA:391665
Aregenerative Anemia	Pallor	ORPHA:101096
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Jaundice, Adrenal hyperplasia, Failure to thrive, Decreased circulating cortisol level, Breast ca...	ORPHA:90790
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Polyhydramnios, Cachexia, Camptodactyly of finger, Proteinuria, Nephropathy	ORPHA:2774
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Cheilitis, Kyphosis, Severe short stature, Sparse hair, Inguinal hernia, Abnormal hair morphology...	ORPHA:2273
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Depression, Cachexia, Progressive distal muscular atrophy, D...	ORPHA:803
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Unilateral facial palsy, Atrioventricular canal defect, Torticollis, Cyst of the ductus choledoch...	OMIM:619480
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight loss, Pancreatic ...	ORPHA:103918
Oromandibular Dystonia	Depression, Torticollis, Weight loss, Respiratory distress	ORPHA:93958
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Scoliosis, Kyphosis, Cryptorchidism, Short stature, Failure to thrive, Flexion contracture, Overw...	ORPHA:500055
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ...	OMIM:276820
Hereditary Late-Onset Parkinson Disease	Bradykinesia, Hypomimic face, Depression, Spastic/hyperactive bladder, Orthostatic hypotension du...	ORPHA:411602
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dilation of Virchow-Robin spaces, Hypocalciuria, Abnormality of hair texture, Hyperlordosis, Hypo...	ORPHA:73223
Difference Of Sex Development-Intellectual Disability Syndrome	Spina bifida occulta, Hypoplasia of penis, Low posterior hairline, Kyphosis, Synophrys, Abnormal ...	ORPHA:2983
Alkaptonuria	Decreased glomerular filtration rate, Intervertebral disk degeneration, Aortic aneurysm, Arthriti...	OMIM:203500
Panhypophysitis	Pallor	ORPHA:95513
Jaberi-Elahi Syndrome	Brittle hair, Scoliosis, Kyphosis, Sparse eyelashes, Failure to thrive, Sparse eyebrow, Sparse ha...	OMIM:617988
Somatomammotropinoma	Palpebral edema, Anterior hypopituitarism, Depression, Dysuria, Hypertension, Pituitary growth ho...	ORPHA:314769
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:168558
Friedreich Ataxia	Congestive heart failure, Decreased pyruvate carboxylase activity, Scoliosis, Hypertrophic cardio...	OMIM:229300
Lumbar Syndrome	Hypospadias, Vesicoureteral reflux, Bifid scrotum, Bifid uterus, Bladder exstrophy, Ambiguous gen...	ORPHA:83628
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Anophthalmia	ORPHA:141099
Stiff Person Spectrum Disorder	Paraspinal muscle hypertrophy, Lumbar hyperlordosis	ORPHA:3198
Weismann-Netter Syndrome	Scoliosis, Severe short stature, Horizontal sacrum, Kyphosis	OMIM:112350
Oculoectodermal Syndrome	Patent ductus arteriosus, Lymphedema, Transient ischemic attack, Hypertrophic cardiomyopathy, Gro...	OMIM:600268
Micro Syndrome	Delayed puberty, Hypoplasia of penis, Scoliosis, Kyphosis, Short stature, Hydronephrosis, General...	ORPHA:2510
Hydrolethalus Syndrome 1	Accessory spleen, Upper limb undergrowth, Postaxial hand polydactyly, Duplication of phalanx of h...	OMIM:236680
Hyperlipoproteinemia, Type I	Lactescent serum, Jaundice, Acute pancreatitis, Hyperlipidemia, Precocious atherosclerosis, Hepat...	OMIM:238600
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Ambiguous genitalia, male, Clitoral hypertrophy, Female external genitalia in...	ORPHA:289548
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Anophthalmia	OMIM:219000
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Secundum atrial septa...	OMIM:214800
Trisomy 18	Congenital diaphragmatic hernia, Cachexia, Cryptorchidism, Short stature, Camptodactyly of finger...	ORPHA:3380
Hypothyroidism, Congenital, Nongoitrous, 2	Bradycardia, Thyroid hypoplasia, Growth delay, Ectopic thyroid, Umbilical hernia, Goiter, Macrogl...	OMIM:218700
Monosomy 9Q22.3	Large for gestational age, Rhabdomyosarcoma, Basal cell carcinoma, Abnormality of the vertebral c...	ORPHA:77301
Sheehan Syndrome	Pallor, Dry skin	ORPHA:91355
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphoscoliosis, Large for gestational age, Broad eyebrow, Facial hypotonia, Kyphosis, Slender bui...	ORPHA:457359
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Scoliosis, Facial palsy, Kyphosis, Apnea, Skeletal muscle atrophy, Arthrogryposi...	OMIM:617143
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Abnormal form of the vertebral bodies, Congenital muscular torticollis, Abnormal dental enamel mo...	ORPHA:2916
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Abnormal dental enamel morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Severe sho...	ORPHA:1005
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Chronic otitis media, Postnatal growth retardation, Sacral dimple, Prominent protruding coccyx, S...	OMIM:300966
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Scoliosis, Hyperlordosis, Kyphosis, Sparse eyebrow	OMIM:617011
Pituitary Apoplexy	Pallor	ORPHA:95613
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Intraalveolar phospholipid accumulation, Dyspnea, Pneumonia, Recurrent respiratory ...	OMIM:610910
Aspartylglucosaminuria	Chronic otitis media, Beaking of vertebral bodies, Hepatomegaly, Abnormal vertebral morphology, A...	ORPHA:93
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Renal salt wasting, Frontal balding, Long penis, Elevated urinary epinephrine level, Urogenital s...	ORPHA:90794
Acromelic Frontonasal Dysplasia	Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Talipes equinovarus	ORPHA:1827
Coffin-Lowry Syndrome	Abnormal aortic valve morphology, Abnormal tricuspid valve morphology, Abnormal form of the verte...	ORPHA:192
Ciliary Dyskinesia, Primary, 42	Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis	OMIM:618695
Joubert Syndrome 21	Anophthalmia	OMIM:615636
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Abnormal hair morphology, Scoliosis, Vertebral segmentation defect, Kyphosis, Sy...	ORPHA:251014
Cranioectodermal Dysplasia 1	Fibular hypoplasia, Radial deviation of finger, Rhizomelia, Broad distal phalanges of all fingers...	OMIM:218330
Stickler Syndrome	Chronic otitis media, Spondylolisthesis, Abnormal form of the vertebral bodies, Cachexia, Scolios...	ORPHA:828
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Elevated circulating alkaline p...	OMIM:605479
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Renal tubular epithelial necrosis, Nail dystrophy, Elevated circulating hepatic transaminase conc...	ORPHA:95455
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Scoliosis, Kyphosis, Synophrys, Failure to thrive, Complete atrioventricula...	ORPHA:476126
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Congestive heart failure, Enlarged pituitary gland, Increased circulating gonado...	ORPHA:91347
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Kyphosis, Umbilical hernia, Intrauterine growth ...	OMIM:135900
Schneckenbecken Dysplasia	Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Increased fibular...	ORPHA:3144
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Urinary retention, Lower limb muscle weakness, Ventricular fibrillation, O...	ORPHA:79102
Pituitary Gigantism	Pituitary growth hormone cell adenoma, Hypertrophic cardiomyopathy, Pituitary prolactin cell aden...	ORPHA:99725
Spondylometaphyseal Dysplasia, Algerian Type	Kyphoscoliosis, Platyspondyly, Severe short stature, Lumbar hyperlordosis	OMIM:184253
Singleton-Merten Syndrome 1	Congestive heart failure, High anterior hairline, Aortic arch calcification, Scoliosis, Decreased...	OMIM:182250
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Pancreatic Colipase Deficiency	Megaloblastic anemia, Exocrine pancreatic insufficiency, Cholelithiasis, Steatorrhea	ORPHA:309108
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Prolactinoma	Pallor	ORPHA:2965
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia/Hypoplasia of the sacrum, Abnormal tibia morph...	ORPHA:2879
Plaa-Associated Neurodevelopmental Disorder	Edema of the dorsum of hands, Limb hypertonia, Hirsutism, Kyphosis, Failure to thrive, Apnea, Ede...	ORPHA:521426
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Anemia, Growth delay, Recurrent pneumonia, Splenomegaly	OMIM:612301
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Xanthelasma, Cholelithiasis, Angina pectoris, Myocardial infarction, Lower ...	OMIM:213700
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Kyphosis, Pituitary adenoma, Elevated circulating growth hormone concent...	OMIM:300942
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Arthrogryposis, Distal, Type 4	Torticollis, Camptodactyly of 2nd-5th fingers, Scoliosis, Camptodactyly, Kyphosis, Low posterior ...	OMIM:609128
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Sparse scalp hair, Failure to thrive, Splenomegaly, Sparse hair, Recurrent respirat...	OMIM:612132
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Limb hypertonia, Kyphosis	ORPHA:500180
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypomimic face, Hirsutism, Kyphosis, Failure to thrive, Apnea, Edema, Contractures of the large j...	OMIM:617527
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Kyphosis, Short stature, Dentinogenesis imperfecta, Platyspondyly, ...	OMIM:616294
Progressive Non-Infectious Anterior Vertebral Fusion	Spinal rigidity, Abnormal intervertebral disk morphology, Abnormality of the vertebral column, Sc...	ORPHA:2062
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Hepatomegaly, Pancreatitis, Splenomegaly, Hypercholesterolemia	OMIM:207750
Occipital Horn Syndrome	Coarse hair, Orthostatic hypotension, Hiatus hernia, Kyphosis, Growth delay, Exostoses, Ureteral ...	OMIM:304150
Esophageal Atresia	Pallor, Ventricular septal defect, Tetralogy of Fallot	ORPHA:1199
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Scoliosis, Camptodactyly, Kyphosis, Flexion contracture of finger, Osteomyelitis	ORPHA:88628
Bruck Syndrome	Scoliosis, Kyphosis, Short stature, Platyspondyly, Arthrogryposis multiplex congenita	ORPHA:2771
Ayme-Gripp Syndrome	Nail dystrophy, Broad eyebrow, Sparse scalp hair, Camptodactyly, Short stature, Pericarditis	OMIM:601088
Meckel Syndrome 14	Ambiguous genitalia, Polycystic kidney dysplasia, Aplasia of the uterus, Short neck, Single ventr...	OMIM:619879
Mosaic Trisomy 20	Fused cervical vertebrae, Scoliosis, Vertebral segmentation defect, Kyphosis, Cryptorchidism, Abn...	ORPHA:1724
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Urinary incontinence, Scoliosis, Kyphosis, Aspiration pneumonia, Sinus bradycard...	OMIM:619482
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Thyroid C cell hyperplasia, Cardiac arrest, Ventricular fibrillation...	OMIM:300952
Microcephaly 13, Primary, Autosomal Recessive	Intrauterine growth retardation, Restrictive cardiomyopathy, Small for gestational age, Short sta...	OMIM:616051
Fatal Familial Insomnia	Apnea, Urinary retention, Weight loss	OMIM:600072
Frank-Ter Haar Syndrome	Kyphoscoliosis, Prominent coccyx, Patent foramen ovale, Anterior concavity of thoracic vertebrae,...	OMIM:249420
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification, Weight loss	ORPHA:677
Weaver Syndrome	Inguinal hernia, Scoliosis, Diastasis recti, Camptodactyly, Kyphosis, Umbilical hernia, Hydrocele...	OMIM:277590
Glucose-Galactose Malabsorption	Hematuria, Dehydration, Nephrolithiasis, Failure to thrive, Weight loss, Renal insufficiency	ORPHA:35710
Spondyloarthropathy, Susceptibility To, 1	Hip osteoarthritis, Aortic regurgitation, Kyphosis, Inflammation of the large intestine, Sacroili...	OMIM:106300
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Arteriosclerosis, Cachexia, Skin rash, Squamous cell carcinoma of the skin,...	ORPHA:220295
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Aplasia of the uterus, Growth delay, Renal hypopla...	OMIM:614083
Otopalatodigital Syndrome, Type Ii	Rocker bottom foot, Short ribs, Femoral bowing, Tibial bowing, Short metacarpal, Broad thumb, Pos...	OMIM:304120
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Cimdag Syndrome	Microvesicular hepatic steatosis, Hepatomegaly, Lipodystrophy, Cholelithiasis	OMIM:619273
Paget Disease Of Bone 5, Juvenile-Onset	Hypercalciuria, Increased urine deoxypyridinoline level, Kyphosis, Short stature, Failure to thri...	OMIM:239000
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Exstrophy-Epispadias Complex	Penoscrotal transposition, Epispadias, Urinary incontinence, Bifid penis, Inguinal hernia, Vesico...	ORPHA:322
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Cachexia, Skeletal muscle atrophy, Myopathy	ORPHA:1876
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Scoliosis, Kyphosis, Growth delay, Macroglossia	ORPHA:261144
Shprintzen Omphalocele Syndrome	Scoliosis, Kyphosis, Omphalocele, Short stature, Lumbar hyperlordosis	OMIM:182210
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Scoliosis, Kyphosis, Short stature, Abnormal mitral valve morphology, Skeletal muscle a...	ORPHA:1969
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis, Inguinal hernia, Aplasia of the vagina, Scoliosis, Aplasia of the uter...	ORPHA:457284
Phacoanaphylactic Uveitis	Cystoid macular edema, Corneal stromal edema, Posterior uveitis, Hyphema, Keratitis, Anterior uve...	ORPHA:209959
Mend Syndrome	Sacral dimple, Limb hypertonia, Kyphosis, Aortic valve stenosis, Failure to thrive, Short stature...	ORPHA:401973
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	High anterior hairline, Hydroureter, Unilateral renal agenesis, Supernumerary nipple, Disproporti...	OMIM:619194
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Paraganglioma, Weight loss	ORPHA:97286
Usher Syndrome	Abnormal cardiovascular system physiology, Depression, Abnormal dental enamel morphology, Hypertr...	ORPHA:886
Smith-Mccort Dysplasia 1	Beaking of vertebral bodies, Scoliosis, Kyphosis, Short stature, Atlantoaxial instability, Hypopl...	OMIM:607326
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus, Omphalocele	ORPHA:2736
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Mend Syndrome	Sacral dimple, Kyphosis, Aortic valve stenosis, Failure to thrive, Short stature, Crossed fused r...	OMIM:300960
Osteopathia Striata With Cranial Sclerosis	Fibular aplasia, Fibular hypoplasia, Flexion contracture of toe, Clinodactyly of the 5th finger, ...	OMIM:300373
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Pallor, Microphthalmia, Hypoplasia of the retina	OMIM:253280
Yunis-Varon Syndrome	Cardiomyopathy, Kyphosis, Heart murmur, Intrauterine growth retardation, Severe failure to thrive...	OMIM:216340
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Ramon Syndrome	Gingival fibromatosis, Scoliosis, Decreased body weight, Kyphosis, Short stature, Juvenile rheuma...	OMIM:266270
Lowe Oculocerebrorenal Syndrome	Kyphosis, Increased circulating lactate dehydrogenase concentration, Stage 5 chronic kidney disea...	OMIM:309000
Developmental Malformations-Deafness-Dystonia Syndrome	Short stature, Scoliosis, Macroglossia, Kyphosis	ORPHA:79107
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Abnormality of the hairline, Bicuspid aortic valve, Hypospadias, Patent foramen o...	OMIM:607872
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Inguinal hernia, White hair, Lymphopenia, Recurrent respiratory infections, Fine hair, Ab...	ORPHA:935
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Broad eyebrow, Highly arched eyebrow, Hirsutism, Kyphosis, Woolly hair, Low anterior hairline, Cr...	OMIM:619244
Iniencephaly	Congenital diaphragmatic hernia, Polyhydramnios, Rhizomelia, Hyperlordosis, Omphalocele, Absent v...	ORPHA:63259
Multiple Osteochondromas	Pneumothorax, Osteochondroma, Arthritis, Rib exostoses, Scapular exostoses, Chondrosarcoma, Short...	ORPHA:321
Autosomal Recessive Ataxia, Beauce Type	Urinary incontinence, Scoliosis, Kyphosis, Skeletal muscle atrophy, Lower limb muscle weakness	ORPHA:88644
Kinsship Syndrome	Osteopenia, Polydactyly, Fibular hypoplasia, Dislocated radial head, Micrognathia, Mesomelia, Pes...	OMIM:619297
Postencephalitic Parkinsonism	Depression, Camptocormia, Kyphosis, Bradykinesia	ORPHA:97349
Ketamine-Induced Biliary Dilatation	Dysuria, Abnormal biliary tract morphology	ORPHA:293807
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia, Scoliosis	ORPHA:2058
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Gerstmann-Straussler Disease	Depression, Lower limb muscle weakness, Weight loss, Bradykinesia	OMIM:137440
X-Linked Intellectual Disability, Snyder Type	Kyphoscoliosis, Ectopic kidney, Hypospadias, Camptodactyly, Kyphosis, Synophrys, Abnormality of t...	ORPHA:3063
Cono-Spondylar Dysplasia	Polyhydramnios, Scoliosis, Kyphosis, Failure to thrive, Short nail, Short neck	ORPHA:420794
Neu-Laxova Syndrome 1	Stillbirth, Transposition of the great arteries, Absent eyelashes, Patent foramen ovale, Camptoda...	OMIM:256520
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Scoliosis, Distal amyotrophy, Flexion contracture, Kyphosis	OMIM:609541
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Caudal interpedicular narrowing, Scoliosis, Kyphosis, Short stature, Posterior scalloping of vert...	OMIM:603546
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hypospadias, Histiocytoid cardiomyopathy, Short stature, Chordee...	OMIM:309801
Pallister-Killian Syndrome	Kyphoscoliosis, Congenital diaphragmatic hernia, Aortic valve stenosis, Sparse hair, Umbilical he...	OMIM:601803
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
Megalocornea-Intellectual Disability Syndrome	Short stature, Scoliosis, Hypercholesterolemia, Kyphosis	ORPHA:2479
Brachyolmia Type 3	Childhood-onset short-trunk short stature, Scoliosis, Kyphosis, Platyspondyly, Short neck	OMIM:113500
Kufor-Rakeb Syndrome	Bradykinesia, Hypomimic face, Urinary incontinence, Leg muscle stiffness, Apathy, Lethargy	ORPHA:306674
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Ragged-red muscle fibers, Cachexia, Distal amyotrophy, Slender build, Weight loss, Reduced tissue...	OMIM:603041
Trisomy 9P	Short neck, Scoliosis, Sacral dimple, Kyphosis	ORPHA:236
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Bicarbonaturia, Generalized aminoaciduria, Abnormal urine pH, R...	ORPHA:3337
Cole-Carpenter Syndrome	Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Scoliosis, Kyphosis, Sh...	ORPHA:2050
Seckel Syndrome	Cachexia, Scoliosis, Abnormal dental enamel morphology, Sparse scalp hair, Short stature, Intraut...	ORPHA:808
Metachromatic Leukodystrophy	Urinary incontinence, Abnormal circulating enzyme concentration or activity, Hemobilia, Neoplasm ...	ORPHA:512
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Cardiomyopathy, Dilat...	ORPHA:363623
Alpha-2-Plasmin Inhibitor Deficiency	Persistent bleeding after trauma, Bruising susceptibility, Joint hemorrhage, Hemothorax	OMIM:262850
Orofaciodigital Syndrome Type 4	Finger syndactyly, Postaxial hand polydactyly, Split hand, Micromelia, Camptodactyly of finger, A...	ORPHA:2753
Spondyloperipheral Dysplasia	Rhizomelic leg shortening, Rhizomelic arm shortening, Kyphosis, Short stature, Ovoid vertebral bo...	OMIM:271700
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Lip telangiectasia, Lymphedema, Telangiectasia of the skin, Ca...	ORPHA:79280
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy	OMIM:610773
Microphthalmia, Syndromic 1	Kyphoscoliosis, Recurrent otitis media, Hydroureter, Hypospadias, Scoliosis, Camptodactyly, Growt...	OMIM:309800
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Anemia, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Synophrys, Bilateral cryptorc...	ORPHA:3042
X-Linked Creatine Transporter Deficiency	Short stature, Cachexia	ORPHA:52503
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Abnormal reproductive system morphology, Low posterior hairline, Sparse eyebrow, Bifid uterus, Su...	ORPHA:1521
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Platyspondyly, Sclerotic vertebral body, Kyphosis, Long eyelashes	OMIM:618476
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Inguinal hernia, Hypoplasia of the musculature, Scoliosis, Sc...	OMIM:278250
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Apneic episodes in infancy, Hypertrophic cardiomyopathy	OMIM:618222
Glycine Encephalopathy	Lethargy	ORPHA:407
Limb-Mammary Syndrome	Aplasia of the ovary, Breast aplasia, Hypoplastic nipples, Aplasia of the uterus, Absent nipple, ...	ORPHA:69085
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Hypospadias, Abnormal dental enamel morphology, Absent eyelashes, Kyphosis, Absent eyebrow, Eczem...	ORPHA:85199
Coffin-Lowry Syndrome	Lumbar kyphosis, Inguinal hernia, Highly arched eyebrow, Scoliosis, Decreased body weight, Kyphos...	OMIM:303600
Cdags Syndrome	Rectourethral fistula, Hypospadias, Sparse scalp hair, Kyphosis, Sparse eyelashes, Sparse eyebrow	OMIM:603116
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Bilateral camptodactyly, Scoliosis, Kyphosis, Synophrys, Short stature, Growth delay	OMIM:619557
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Cerebrocostomandibular Syndrome	Kyphosis, Short stature, Intrauterine growth retardation, Ventricular septal defect, Multicystic ...	ORPHA:1393
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Trichiasis, Hypospadias, Inguinal hernia, Kyphosis, Sparse eyebrow, Thin eyebrow	OMIM:609944
Familial Osteodysplasia, Anderson Type	Abnormal form of the vertebral bodies, Scoliosis, Hypertension, Kyphosis, Thick eyebrow	ORPHA:2769
Pineoblastoma	Pinealoma, Lethargy, Retinoblastoma	ORPHA:251909
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Lenz-Majewski Hyperostotic Dwarfism	Epispadias, Hypospadias, Inguinal hernia, Abnormal dental enamel morphology, Scoliosis, Facial pa...	ORPHA:2658
Bickerstaff Brainstem Encephalitis	Facial palsy, Dyspnea, Limb muscle weakness, Respiratory tract infection, Facial paralysis, Weakn...	ORPHA:79138
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling	ORPHA:1942
Osteoporosis-Pseudoglioma Syndrome	Kyphoscoliosis, Vertebral compression fracture, Scoliosis, Kyphosis, Biconcave vertebral bodies, ...	OMIM:259770
Townes-Brocks Syndrome 1	Hypospadias, Multicystic kidney dysplasia, Rectovaginal fistula, Vesicoureteral reflux, Bifid scr...	OMIM:107480
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Small for gestational age, Weight loss, Thyroid hyperplasia	ORPHA:424
Pontocerebellar Hypoplasia Type 7	Gonadal dysgenesis, Clitoral hypertrophy, Abnormal scrotal rugation, Aplasia of the uterus, Micro...	ORPHA:284339
Lennox-Gastaut Syndrome	Apathy	ORPHA:2382
Craniofacial Microsomia 1	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot, Anophthalmia	OMIM:164210
Osteogenesis Imperfecta, Type Iv	Scoliosis, Kyphosis, Short stature, Biconcave flattened vertebrae, Dentinogenesis imperfecta	OMIM:166220
Cleidocranial Dysplasia 1	Spondylolysis, Spondylolisthesis, Respiratory distress, Scoliosis, Kyphosis, Short stature, Ename...	OMIM:119600
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Delayed puberty, Hypospadias, Scoliosis, Kyphosis, Cryptorchidism, Micropenis	OMIM:619718
Familial Gestational Hyperthyroidism	Goiter, Weight loss, Thyroid hyperplasia	ORPHA:99819
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Scoliosis, Uterine rupture	ORPHA:60030
Rett Syndrome, Congenital Variant	Scoliosis, Kyphosis	OMIM:613454
Spondyloepimetaphyseal Dysplasia, X-Linked	Abnormality of alkaline phosphatase level, Kyphosis, Anterior wedging of T12, Hypoplasia of the o...	OMIM:300106
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Enuresis nocturna, Pollakisuria, Kyphosis, Lower limb hypertonia, Foot dors...	ORPHA:171629
Orofaciodigital Syndrome Iii	Kyphosis	OMIM:258850
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Cachexia, Steatorrhea	ORPHA:3217
Primrose Syndrome	Delayed puberty, Dystrophic fingernails, Distal amyotrophy, Sparse scalp hair, Kyphosis, Synophry...	OMIM:259050
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the eyebrow, Hypospadias, Inguinal hernia, Uterine rupture, Abnormal heart ...	ORPHA:286
Norrie Disease	Delayed puberty, Venous insufficiency, Cachexia, Scoliosis, Neoplasm of the eye, Failure to thriv...	ORPHA:649
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Developmental And Epileptic Encephalopathy 94		OMIM:615369

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.

Phenotype	Allele	Zygosity	Sex	Life Stage
Sternum - MPATH pathological process term hyperplasia	Chd2^{tm1b(EUCOMM)Hmgu}	HOM		Early adult
Sternum - MPATH pathological process term fibro-osseous lesion	Chd2^{tm1b(EUCOMM)Hmgu}	HOM		Early adult

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 Chd2.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Regulation of CHD2 expression by the Chaserr long noncoding RNA gene is essential for viability.	Nature communications (November 2019)	Chd2^{tm1b(EUCOMM)Hmgu}	PMC6841665
Chd2 Is Necessary for Neural Circuit Development and Long-Term Memory.	Neuron (October 2018)	Chd2^{tm1c(EUCOMM)Hmgu} Chd2^{tm1d(EUCOMM)Hmgu}	30344048

Order Mouse and ES Cells

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
Chd2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Chd2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Chd2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Chd2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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: Chd2 MGI:2448567

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Electrocardiogram (ECG)

Immunophenotyping

X-ray

X-ray

Gross Pathology and Tissue Collection

X-ray

Eye Morphology

Immunophenotyping

Histopathology

X-ray

Human diseases caused by Chd2 mutations

Histopathology

IMPC related publications

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