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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
abnormal bone structure	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.87×10^-06
short tibia	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.93×10^-11
decreased hemoglobin content	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.49×10^-05
decreased bone mineral density	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	5.91×10^-05
decreased erythrocyte cell number	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.36×10^-05
increased grip strength	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.72×10^-10
decreased prepulse inhibition	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.21×10^-05
abnormal sinus arrhythmia	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	2.07×10^-08
increased circulating alanine transaminase level	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.23×10^-06
decreased body length	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	4.19×10^-06
decreased bone mineral content	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	3.58×10^-06
decreased mean platelet volume	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	7.47×10^-06
increased circulating aspartate transaminase level	Chd2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.44×10^-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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 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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Immunophenotyping

Panel A FCS file(s)

6 Images

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Histopathology

Images

2 Images

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Gross Pathology and Tissue Collection

Images

8 Images

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Electrocardiogram (ECG)

Waveform Image

1 Images

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Eye Morphology

Images Ophthalmoscopy

2 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 (2480 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
Developmental And Epileptic Encephalopathy 94		OMIM:615369
Lennox-Gastaut Syndrome		ORPHA:2382

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

Disease	Matching phenotypes	Source
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Tubulointerstitial nephritis, Lymphocytosis, Cough, Infectious encephaliti...	ORPHA:139402
Brucellosis	Liver abscess, Bronchitis, Knee osteoarthritis, Leukopenia, Abnormality of the liver, Infectious ...	ORPHA:1304
Legionnaires Disease	Abnormal lung morphology, Cough, Infectious encephalitis, Recurrent pharyngitis, Hepatitis, Respi...	ORPHA:549
Q Fever	Respiratory distress, Abnormal left ventricular function, Abnormality of the liver, Cholecystitis...	ORPHA:781
Peripartum Cardiomyopathy	Crackles, Ventricular tachycardia, Pedal edema, Left bundle branch block, Right ventricular dilat...	ORPHA:563
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi...	ORPHA:829
Mixed Connective Tissue Disease	Myositis, Xerostomia, Leukopenia, Nephropathy, Hemolytic anemia, Hepatomegaly, Alopecia, Prolonge...	ORPHA:809
Systemic Capillary Leak Syndrome	Pericarditis, Renal insufficiency, Rhinorrhea, Cough, Myocarditis, Leukocytosis, Oliguria, Pedal ...	ORPHA:188
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, E...	ORPHA:731
Scrub Typhus	Abnormal bleeding, Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, D...	ORPHA:83317
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Myocardial infarction, Cachexi...	ORPHA:3452
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Failure to thrive, L...	OMIM:618495
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Hypersensitivity pneumonitis, Dy...	ORPHA:133
Liver Disease, Severe Congenital	Chronic gastritis, Dry hair, Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular functio...	OMIM:619991
American Trypanosomiasis	Hepatomegaly, Skin rash, Edema, Periorbital edema, Myocarditis, Splenomegaly, Congestive heart fa...	ORPHA:3386
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Petechiae, Splenomegaly, Recurrent upper respiratory tract infections, Restrictive ...	OMIM:620296
Congenital Enterovirus Infection	Respiratory distress, Polyhydramnios, Fetal ascites, Hydrops fetalis, Leukopenia, Neutropenia, In...	ORPHA:292
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Nonproductive cough, Xerostomi...	ORPHA:289390
Listeriosis	Back pain, Respiratory distress, Liver abscess, Abnormal cellular immune system morphology, Granu...	ORPHA:533
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Abnormal neutrophil...	ORPHA:723
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Myositis, Iron deficiency anemia, Tubulointerstitial nephritis, Colitis, Ne...	ORPHA:37042
Propionic Acidemia	Hepatomegaly, Pancytopenia, Apnea, Eczema, Increased level of hippuric acid in urine, Short statu...	OMIM:606054
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Eosinophilic Granulomatosis With Polyangiitis	Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Abnormal pericar...	ORPHA:183
Bacterial Toxic-Shock Syndrome	Respiratory distress, Myositis, Fasciitis, Sinusitis, Edema, Tachypnea, Increased circulating mye...	ORPHA:36234
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf...	ORPHA:444463
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch...	ORPHA:860
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili...	ORPHA:567983
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Desquamative int...	OMIM:615952
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Aplastic anemia, Myelodysplasia, Thrombocytopenia, Dyspnea, Hepatic necrosis, Premature...	OMIM:127550
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Pedal edema, Sterile pyuria, Lymphocytoma cutis, Tubuloi...	ORPHA:449395
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Severe B lymphocytopenia, Biliary hyperplasia, Coarse hair, Micropenis, Pan...	ORPHA:83617
Immunodeficiency 40	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Respiratory tract in...	OMIM:616433
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Inguinal hernia, Cryptorchidism, Patent ductus arteriosus...	OMIM:614857
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Facial edema, Periorbital edema, Fulminant hepatitis, Nonproducti...	ORPHA:319213
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Telangiectasia of the skin, Abnormal pericardium morphology, Myocard...	ORPHA:679
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Hepatomegaly, Renal insufficiency, Splenomegaly, Dehydration, Anemia, Cardi...	ORPHA:79312
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Abnormali...	ORPHA:2552
Acute Interstitial Pneumonia	Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri...	ORPHA:79126
Shigellosis	Dehydration, Uveitis, Hypovolemic shock, Conjunctivitis, Acute colitis, Abscess, Hemolytic-uremic...	ORPHA:810
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methyls...	ORPHA:26792
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Sideroblastic anemia, Hepatomegaly, Elevated hepatic transaminase, Respirat...	OMIM:613561
Complete Atrioventricular Septal Defect	Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem...	ORPHA:1329
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Avian Influenza	Respiratory distress, Nonproductive cough, Tachypnea, Leukopenia, Conjunctivitis, Cough, Infectio...	ORPHA:454836
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Alopecia, Vasc...	ORPHA:50918
Carcinoid Syndrome	Elevated hepatic transaminase, Tricuspid regurgitation, Chronic noninfectious lymphadenopathy, Ri...	ORPHA:100093
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Neonatal death, Microphthalmia	OMIM:615524
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced rhabdomyolysis, Hepatomegaly, Necrotizing enterocolitis, Dicarboxylic aciduria, ...	OMIM:201475
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta...	ORPHA:3282
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Episodic tachypnea, Tachypnea, Ventricular tachycardia, Atrioventricular bl...	ORPHA:26793
Sting-Associated Vasculopathy, Infantile-Onset	Skeletal muscle atrophy, Myositis, Recurrent respiratory infections, Skin rash, Failure to thrive...	OMIM:615934
Zygomycosis	Fasciitis, Sinusitis, Periorbital edema, Acute infectious pneumonia, Colitis, Neutropenia, Cough,...	ORPHA:73263
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ...	OMIM:617021
Rigid Spine Syndrome	Hip contracture, Skeletal muscle atrophy, Pneumonia, Cardiac conduction abnormality, Spinal rigid...	ORPHA:97244
Staphylococcal Necrotizing Pneumonia	Shock, Respiratory distress, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumoth...	ORPHA:36238
Primary Myelofibrosis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Increased...	ORPHA:824
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Rheumatic Fever	Pericarditis, Sinusitis, Abnormal heart valve morphology, Epistaxis, Abnormal pleura morphology, ...	ORPHA:3099
Wilson Disease	Back pain, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Thrombocytopenia, ...	ORPHA:905
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Crescentic glomerulonephritis, Abnormal pulmonary interstitial morphology, Ar...	OMIM:616414
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Raynaud phenomenon, Myocarditis, ...	ORPHA:206569
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Coronary Arterial Fistula	Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr...	ORPHA:2041
Antisynthetase Syndrome	Aortic regurgitation, Recurrent respiratory infections, Myositis, Skin rash, Telangiectasia of th...	ORPHA:81
Kawasaki Disease	Abnormality of nail color, Edema, Sterile pyuria, Conjunctivitis, Cholecystitis, Recurrent pharyn...	ORPHA:2331
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Short neck, Spinal rigidity, Kyphosis, Hyperlordosis, Dilated cardiomyopathy, Flexion contracture...	OMIM:300718
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Recurrent skin infections, Short stature, Recurrent upper respiratory tract infecti...	OMIM:233600
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Acne, Recurrent sk...	OMIM:300635
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Leukopenia, Conjunctivitis, Cholecystiti...	ORPHA:99827
X-Linked Agammaglobulinemia	Sinusitis, Abnormal lung morphology, Neoplasm, Conjunctivitis, Neutropenia, Chronic otitis media,...	ORPHA:47
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypoparathyroidism, Hypoplasia of t...	ORPHA:231226
Carnitine Deficiency, Systemic Primary	Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr...	OMIM:212140
Catastrophic Antiphospholipid Syndrome	Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran...	ORPHA:464343
Immunodeficiency 104	Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy...	OMIM:608971
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Epistax...	OMIM:612840
Dermatomyositis	Abnormal eosinophil morphology, Edema, Myocardial infarction, Periorbital edema, Inflammatory myo...	ORPHA:221
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Sandhoff Disease	Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Kyphosis, Congestive heart failure,...	ORPHA:796
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Glutaric aciduria, 3-Methylglutaric aciduria, Hepatomegaly, Scapular win...	ORPHA:26791
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Polyhydramnios, Hyperlordosis, Spinal rigidity, Respiratory insufficiency due to mu...	OMIM:161800
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F, Abnormal bone structure	ORPHA:46532
Felty Syndrome	Sinusitis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegaly, Recur...	ORPHA:47612
Hemochromatosis, Type 2A	Hepatomegaly, Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Art...	OMIM:602390
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Decreased skull ossification, Abnormal hemoglobin, Anemia	ORPHA:3319
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Edema, Tachypnea, Dehydration, Leukopenia, 3-Methylglutaric aciduria, Lethargy, Hepatomega...	ORPHA:20
Rat-Bite Fever	Back pain, Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Parotitis, Skin rash...	ORPHA:31205
Osebold-Remondini Syndrome	Decreased finger mobility, Broad toe, Dysplastic distal radial epiphyses, Hypoplasia of the ulna,...	OMIM:112910
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res...	OMIM:619611
Pauci-Immune Glomerulonephritis	Tubulointerstitial nephritis, Granulomatosis, Cough, Nephrotic range proteinuria, Decreased glome...	ORPHA:93126
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Elevated circulating C-reactive protein concentration, Vasculitis, Decreased mean platelet volume...	OMIM:617718
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Cough, Lethargy, Hilar lymph node enlargement, Hepatomegaly, Tricuspid regurgitation, M...	OMIM:620233
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Small for gestational age, Short stature, Short neck, Cardiomegaly, Postnatal growth retardation,...	OMIM:613320
Aspergillosis	Sinusitis, Intracranial hemorrhage, Cough, Neutropenia, Infectious encephalitis, Chronic pulmonar...	ORPHA:1163
Pleural Mesothelioma	Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology...	ORPHA:50251
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,...	OMIM:614299
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Weight loss, Cough	ORPHA:64741
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension, Arteriosclerosis, ...	ORPHA:494424
Systemic Sclerosis	Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Alopecia, Barrett esopha...	ORPHA:90291
Relapsing Polychondritis	Uveitis, Large vessel vasculitis, Conjunctivitis, Cough, Chondritis, Alopecia, Atelectasis, Hepat...	ORPHA:728
Beta-Thalassemia Intermedia	Extramedullary hematopoiesis, Abnormality of the liver, Elevated hepatic iron concentration, Eryt...	ORPHA:231222
Holocarboxylase Synthetase Deficiency	Respiratory distress, Alopecia, Eczema, Tachypnea, Keratoconjunctivitis, Weight loss, Growth dela...	ORPHA:79242
Beta-Thalassemia Major	Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Hypoplasia of t...	ORPHA:231214
Thrombocytopenia 1	Epistaxis, Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Conge...	OMIM:313900
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Von Hippel-Lindau Disease	Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Upper lim...	ORPHA:892
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Thrombocytopenia 3	Thrombocytopenia, Epistaxis, Decreased mean platelet volume	OMIM:273900
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I...	OMIM:613812
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Large for gestational a...	ORPHA:45452
Arterial Tortuosity Syndrome	Respiratory distress, Myocardial infarction, Femoral hernia, Hiatus hernia, Pulmonary artery sten...	ORPHA:3342
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Recurrent respiratory infections, Pulmonary edema, Atrial fibrillation, Left atrial...	ORPHA:75249
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Anisocytosis, Cardiomegaly, Microvesicular hepatic steatosis, Tachypnea, Hepatocellular necrosis,...	OMIM:618278
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Spinal rigidity, Neck joint contrac...	OMIM:255600
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Severe short stature, Lymphocytic interstitial pneumonia, Decreased respons...	OMIM:245590
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Hip contracture, Lumbar hyperlordosis, Short stature, Congenital foot contractures, Knee flexion ...	OMIM:602484
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Dextro...	ORPHA:2257
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Slender build, Hyperlordosis, Quadriceps muscle weakne...	OMIM:620389
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduri...	ORPHA:71212
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Tachypnea, Atrial septal defect, Hypoplastic cervical vertebrae, Vertebral hyp...	ORPHA:79345
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi...	ORPHA:264675
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
Polymyositis	Myocardial infarction, Cough, Hepatomegaly, Dilated cardiomyopathy, Vasculitis, Respiratory insuf...	ORPHA:732
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Cholangitis, Pulmonar...	ORPHA:3260
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cardiac arrest, Splenomegaly, Ab...	ORPHA:99745
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epistaxis, Reduced platelet ...	OMIM:314050
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Disproportionate short stature, Abnormal form of...	ORPHA:40
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert...	ORPHA:60025
Acute Lung Injury	Shock, Respiratory distress, Acute pancreatitis, Pneumonia, Edema, Diffuse alveolar hemorrhage, D...	ORPHA:178320
High Altitude Pulmonary Edema	Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, Pulmonary e...	ORPHA:330012
Schimke Immuno-Osseous Dysplasia	Short neck, Neutropenia, Nephropathy, Intrauterine growth retardation, Nephrotic range proteinuri...	ORPHA:1830
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c...	ORPHA:139507
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl...	OMIM:614878
Mantle Cell Lymphoma	Splenomegaly, Weight loss, B-cell lymphoma, Lymphadenopathy	ORPHA:52416
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abn...	ORPHA:1802
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Pancytopenia, Recurrent respiratory ...	OMIM:613385
Autosomal Agammaglobulinemia	Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,...	ORPHA:33110
Wild Type Attr Amyloidosis	Hepatomegaly, Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h...	ORPHA:330001
Acute Radiation Syndrome	Abnormal bleeding, Inflammatory abnormality of the skin, Telangiectasia, Interstitial pneumonitis...	ORPHA:454831
Gm1 Gangliosidosis	Hydrops fetalis, Abnormal form of the vertebral bodies, Decreased beta-galactosidase activity, As...	ORPHA:354
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy...	OMIM:617222
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Short palm, Hypoplastic iliac wing, Short...	OMIM:607778
Cardiocranial Syndrome, Pfeiffer Type	Small hypothenar eminence, Contracture of the proximal interphalangeal joint of the 2nd finger, T...	ORPHA:2872
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Macrocytic anemia, Renal insufficiency, Thrombocytopenia, Dehydration, Respiratory ...	ORPHA:27
Lethal Infantile Mitochondrial Myopathy	Neonatal respiratory distress, Renal insufficiency, Fatal liver failure in infancy, Cardiomyopath...	ORPHA:254857
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat...	ORPHA:99106
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Increased adipose tissue, Scoliosis	OMIM:617404
Autoimmune Lymphoproliferative Syndrome	Non-Hodgkin lymphoma, Hydrops fetalis, Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increa...	ORPHA:3261
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Synophry...	OMIM:619064
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating aspartate aminotransferase concentration, Elevated circ...	OMIM:619386
Vexas Syndrome	Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C...	OMIM:301054
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Tachypnea,...	OMIM:610978
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Hepatomegaly, Dicarboxylic acidu...	ORPHA:42
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Short stature, Hyperlordosis, Cryptorchidism, Arterial stenosis, Cerebral artery ath...	ORPHA:1192
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Epistaxis, Myocardial infarction, Impaired ADP-induced platelet aggre...	OMIM:155100
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement...	OMIM:115197
Storage Pool Platelet Disease	Decreased mean platelet volume, Acute leukemia	OMIM:185050
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Eosinophilia, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis...	ORPHA:169160
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Hepatomegaly, Portal hypertensi...	OMIM:208540
Cystic Echinococcosis	Abnormal peritoneum morphology, Abnormality of the testis size, Renal cyst, Elevated gamma-glutam...	ORPHA:400
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Dehydr...	OMIM:251000
Nemaline Myopathy 2	Skeletal muscle atrophy, Apnea, Polyhydramnios, Fatty replacement of skeletal muscle, Flexion con...	OMIM:256030
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splen...	ORPHA:465508
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo...	ORPHA:822
Loeffler Endocarditis	Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda...	ORPHA:75566
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral...	OMIM:301068
Immunodeficiency 18	Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent resp...	OMIM:615615
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Recurrent respiratory infections, Prolonged bleeding time, Abnormal neutrophil coun...	ORPHA:3226
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly...	OMIM:251880
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Short stature, Splenom...	ORPHA:93476
Double Outlet Right Ventricle	Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Short stature, Tac...	ORPHA:3426
Congenital Muscular Dystrophy Due To Lmna Mutation	Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Congestive heart failure, Flex...	ORPHA:157973
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Tachycardia, Skin rash, Heart blo...	ORPHA:542323
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Epistaxis, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl...	OMIM:617514
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly, Hypertrophic cardiomyopathy	ORPHA:79281
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Hepatic steatosis, Hepatomegaly, Short stature, Elevated circulating aspartate amin...	OMIM:614921
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Depression, Myopathy, Sl...	ORPHA:352470
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Hepatic ...	OMIM:231530
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Edema, Leukocytosis, Tachypnea, Dehydration, Weight loss, Hypertension, ...	ORPHA:134
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia, Hamar...	ORPHA:141152
Lipodystrophy, Congenital Generalized, Type 4	Flexion contracture, Hepatic steatosis, Hepatomegaly, Centrally nucleated skeletal muscle fibers,...	OMIM:613327
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Respiratory insufficiency, Dehydration, Lethargy, Failure to t...	ORPHA:28
Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:98853
Biotinidase Deficiency	Hepatomegaly, Alopecia, Recurrent skin infections, Skin rash, Apnea, Seborrheic dermatitis, Splen...	OMIM:253260
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ...	OMIM:616501
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Small ...	ORPHA:555874
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Lumbar hyperlordosis, Short stature, Respiratory insufficiency, Distal amyotroph...	OMIM:619042
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, Hepatic fibros...	ORPHA:171
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Respiratory insufficiency due to muscle weakness, Intrinsic hand muscle atrophy, Cardiomyopathy, ...	ORPHA:63273
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Giant cell hepatitis, Dehydration, Nephrocalcinosis, Aminoaciduria, Elevated gamma-glutamyltransf...	OMIM:208085
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Cough, Emphysema, Hepatic steatosis, Short stature, Portal hypertension, Respiratory i...	OMIM:613658
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula...	ORPHA:137675
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Oropharyngeal squamous cell carcinoma, Medial calcification of large arteries, Functional abnorma...	ORPHA:391487
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Hand muscle atrophy, Os odontoideum, Lumbar hyperlordosis, Short stature, Spondylolisthesis at L5...	OMIM:600561
Infant Acute Respiratory Distress Syndrome	Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ...	ORPHA:70587
Odontomatosis-Aortae Esophagus Stenosis Syndrome	Odontoma, Myocarditis, Hepatic failure, Atherosclerosis	ORPHA:2724
Niemann-Pick Disease, Type B	Hepatomegaly, Recurrent respiratory infections, Foam cells with lamellar inclusion bodies, Short ...	OMIM:607616
Mercury Poisoning	Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f...	ORPHA:330021
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Short neck, Atrioventricular block, Decreased cervical spine flexion due to contractur...	ORPHA:98863
Eiken Syndrome	Short palm, Abnormal trabecular bone morphology, Absence of the sacrum, Abnormal acetabulum morph...	ORPHA:79106
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Sclero...	OMIM:617394
Mucolipidosis Type Iii	Inguinal hernia, Abnormal heart valve morphology, Acne, Short stature, Hyperlordosis, Abnormal fo...	ORPHA:577
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, Le...	OMIM:160500
Griscelli Syndrome	Hepatomegaly, Abnormal eyebrow morphology, Short stature, Abnormality of neutrophils, Abnormal ey...	ORPHA:381
Immunodeficiency 48	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Pneumonia, Absence of CD8-posi...	OMIM:269840
Juvenile Neuronal Ceroid Lipofuscinosis	Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Ab...	ORPHA:79264
Hemochromatosis, Neonatal	Abnormal bleeding, Nonimmune hydrops fetalis, Cholestasis, Hepatocellular necrosis, Hepatic fibro...	OMIM:231100
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Graft Versus Host Disease	Skeletal muscle atrophy, Myositis, Fasciitis, Gastrointestinal inflammation, Acute hepatitis, Dup...	ORPHA:39812
Colchicine Poisoning	Respiratory distress, Alopecia, Renal insufficiency, Myocarditis, Leukocytosis, Congestive heart ...	ORPHA:31824
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Lumbar hyperlordosis, Centrally nucleated skeletal muscle fibers, Spinal ri...	ORPHA:86812
Infantile Sialic Acid Storage Disease	Hepatomegaly, Failure to thrive, Fair hair, Cardiomegaly, Splenomegaly, Congestive heart failure,...	OMIM:269920
Rhabdoid Tumor	Renal neoplasm, Respiratory insufficiency, Lymphadenopathy, Anemia, Neoplasm of the liver, Hypert...	ORPHA:69077
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Cardiomegaly, Diffuse alveol...	ORPHA:99931
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Chronic oral candidiasis, Decreased proportion of naive T cells, Recurrent bacteria...	ORPHA:276
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Simple Cryoglobulinemia	Myocardial infarction, Abnormal lung morphology, Nephritis, Membranoproliferative glomerulonephri...	ORPHA:91139
Immunodeficiency 27A	Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Splenomegaly, Leukocyto...	OMIM:209950
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Hyperlordosis, Fatty replacement of skeletal muscle, Congestive heart failure, Car...	ORPHA:52430
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In...	OMIM:615559
Infection-Related Hemolytic Uremic Syndrome	Anuria, Edema, Nephrotic range proteinuria, Acute colitis, Hemolytic anemia, Brain abscess, Respi...	ORPHA:544482
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Generalized lymphadenopathy, Edema, Hepatic steatosis, Hemolytic anemia, Hepa...	OMIM:615846
Scorpion Envenomation	Bundle branch block, Edema, Tachypnea, Prominent U wave, Ketonuria, Elevated circulating aspartat...	ORPHA:466677
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Congestive heart failure, D...	ORPHA:206546
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract...	ORPHA:365
Lymphoid Interstitial Pneumonia	Aortic valve stenosis, Cor pulmonale, Lymphocytic interstitial pneumonia	OMIM:247610
Hypothyroidism, Congenital, Nongoitrous, 7	Growth delay, Lethargy, Short stature	OMIM:618573
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Depression, Hypertension, Neut...	OMIM:602079
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Lethargy...	OMIM:618228
Alstrom Syndrome	Chronic active hepatitis, Decreased response to growth hormone stimulation test, Tubulointerstiti...	OMIM:203800
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Lymphoproliferati...	OMIM:300853
Cirrhotic Cardiomyopathy	Cardiomegaly, Right atrial enlargement, Global systolic dysfunction, Abnormal bleeding, Hepatomeg...	ORPHA:57777
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Pustule, Chronic ...	OMIM:613953
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Takayasu Arteritis	Abnormal endocardium morphology, Increased inflammatory response, Hypertensive crisis, Abnormal h...	ORPHA:3287
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea...	ORPHA:2137
Dihydrolipoamide Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Lethargy, Hypertrophic car...	OMIM:246900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Urinary incontinence...	OMIM:604320
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster...	ORPHA:98855
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten...	OMIM:615290
Aicardi-Goutieres Syndrome 9	Edema, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly, Chilblain...	OMIM:619487
Pyruvate Dehydrogenase E3 Deficiency	Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun...	ORPHA:2394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress, Hepatomegaly, Renal insufficiency, Anemia, Renal tubular dysfunction, Growt...	ORPHA:289916
Schimke Immunoosseous Dysplasia	Short neck, Bilateral cryptorchidism, Abnormal T cell morphology, Coarse hair, Thoracic kyphosis,...	OMIM:242900
Leigh Syndrome	Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Failure to thrive, Abnor...	OMIM:256000
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra...	OMIM:609015
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Splenomegaly, Flexion contracture, Cardiomyopathy, Intra...	OMIM:608540
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Left ventricular systolic dysfunction, Facial palsy, Hyperlordosis, Cryptorchidism, Flexion contr...	OMIM:613156
Mitochondrial Complex I Deficiency, Nuclear Type 3	Hepatomegaly, Lethargy, Respiratory insufficiency	OMIM:618224
Immunodeficiency With Hyper-Igm, Type 1	Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Failure to thrive, Absence of lymph nod...	OMIM:308230
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated hepatic transaminase, Small for gestational age, Episodic tachypnea, Decreased liver fun...	OMIM:615160
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Hyperlordosis, Flexion contrac...	OMIM:253700
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Short neck, Patent ductus arteriosus,...	ORPHA:1842
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxysmal atrial ...	ORPHA:49827
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Ventricular septal defe...	OMIM:616651
Congenital Myopathy 4A, Autosomal Dominant	Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f...	OMIM:255310
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Disproportionate short-trunk short stature, Irregular vertebral endplates, ...	OMIM:609223
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr...	OMIM:600649
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Slender build, Hyperlordosis, Dyspnea, Depression, Myopathy, Shoulder girdle muscle weakness, Gen...	OMIM:615156
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Petechiae, Cere...	OMIM:617397
Gaucher Disease Type 1	Osteoarthritis, Pedal edema, Leukopenia, Biliary tract obstruction, Hepatomegaly, Pericardial eff...	ORPHA:77259
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia	OMIM:137560
Idiopathic Achalasia	Bronchitis, Wheezing, Weight loss, Cough, Recurrent aspiration pneumonia	ORPHA:930
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Alopecia, Sparse eyelashes, Thick hair, Portal hypertension, Sparse eyebrow, Spleno...	OMIM:607626
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Increased circulating lactate ...	ORPHA:71275
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Short stature, Scoliosis, Hyperlordosis	ORPHA:408
Joubert Syndrome 7	Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Scolios...	OMIM:611560
Mogs-Cdg	Respiratory distress, Hepatomegaly, Thoracic scoliosis, Pulmonary edema, Apnea, Hypoventilation, ...	ORPHA:79330
Joubert Syndrome 9	Apnea, Episodic tachypnea, Stage 5 chronic kidney disease, Hepatic fibrosis, Scoliosis	OMIM:612285
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Short neck, Flexion contracture, Leukopenia, Thoracic kyphosis, Conjunctivi...	ORPHA:505248
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Renal insufficiency, Proteinuria, Spl...	ORPHA:91138
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Postnatal growth retardation, Hyperte...	ORPHA:2169
Alveolar Echinococcosis	Liver abscess, Cholangitis, Pedal edema, Renal cyst, Cough, Abnormal vertebral morphology, Abnorm...	ORPHA:284
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a...	OMIM:600175
Lymphoid Interstitial Pneumonia	Crackles, Abnormality of connective tissue, Cough, Decreased DLCO, Hepatomegaly, Multiple pulmona...	ORPHA:79128
Macrophage Activation Syndrome	Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Increased circulating lactat...	ORPHA:158061
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Bronchial Neuroendocrine Tumor	Abnormal pulmonary valve cusp morphology, Nonproductive cough, Hepatomegaly, Tricuspid regurgitat...	ORPHA:97287
Neuraminidase Deficiency	Skeletal muscle atrophy, Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinu...	OMIM:256550
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Inguinal hernia, Portal hypertension, Situs inversus totalis, Pancr...	OMIM:267010
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Dyspnea, Tachypnea, Primary ...	OMIM:239200
Congenital Toxoplasmosis	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice...	ORPHA:858
Congenital Myopathy 8	Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea...	OMIM:618654
Hyperinsulinism Due To Ucp2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Diffuse pancreatic i...	ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Diffuse pancreatic i...	ORPHA:276575
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Epistaxis, Impaired ristocetin-induced platelet aggregation, Giant p...	OMIM:231200
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ...	ORPHA:584
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ...	OMIM:265120
Cocaine Intoxication	Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Tubulointerstitial...	ORPHA:90068
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia...	OMIM:602450
Mucopolysaccharidosis, Type Iva	Short neck, Anterior beaking of lumbar vertebrae, Chondroitin sulfate excretion in urine, Hepatom...	OMIM:253000
Fucosidosis	Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes...	OMIM:230000
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Skeletal muscle atrophy, Acute hepatic failure, Microvesicular hepatic stea...	OMIM:256810
Activated Pi3K-Delta Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Lymphoma, Bronchiectasis, Lymphaden...	ORPHA:397596
Developmental And Epileptic Encephalopathy 40	Intrauterine growth retardation, Lethargy	OMIM:617065
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Respiratory insufficiency, Cardiomyopathy, Myopathy, Organi...	OMIM:255100
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a...	OMIM:620203
Citrullinemia Type I	Torticollis, Tachypnea, Hepatic failure, Lethargy, Failure to thrive	ORPHA:247525
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Upper limb un...	OMIM:169400
Immunodeficiency 76	B-cell lymphoma, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytope...	OMIM:619164
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Hepatomegaly, Elevated circulating alkaline phosphatase...	ORPHA:30391
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Increased circulating thyroglobulin level, Craniosynostosis, ...	ORPHA:356961
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Tachypnea, Respiratory failure, Lethargy, Failure to thrive, Anemia	OMIM:615838
Isolated Atp Synthase Deficiency	Respiratory distress, Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, 3-Me...	ORPHA:254913
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Short stature, Diastasis recti, Portal hypertension, Neonat...	ORPHA:440713
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Juvenile rheumatoid arthritis, Short statu...	ORPHA:1855
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Polyhydramnios, Renal hypoplasia, Renal cyst, Cardiomyopathy, ...	OMIM:614922
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Reduced vital capacity, Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower l...	OMIM:607088
African Trypanosomiasis	Urinary incontinence, Conjunctivitis, Iritis, Hepatomegaly, Abnormal EKG, Alopecia, Hepatosplenom...	ORPHA:3385
Purine Nucleoside Phosphorylase Deficiency	Cerebral vasculitis, Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure r...	OMIM:613179
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Myocardial infarction, Splenomegaly, Jaundic...	ORPHA:108
Follicular Lymphoma	Abnormal peritoneum morphology, Lymphedema, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, ...	ORPHA:545
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Increased mean platelet volume, Myocardial infarction, Giant pl...	ORPHA:182050
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hepatomegaly, Tachycardia, Large for gestational age, Syncope, Palpitations, Diffuse pancreatic i...	ORPHA:276580
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Mediastinal lymphadenopathy, ...	ORPHA:199241
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Glycogen Storage Disease Ixc	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ...	OMIM:613027
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Reduced forced vital capacity, Kyphosis, Achilles tendon contrac...	OMIM:607155
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay, Aminoaciduria	ORPHA:79238
Alpha-1-Antitrypsin Deficiency	Hepatomegaly, Jaundice, Hepatitis, Nephrotic syndrome, Emphysema, Hepatic failure	ORPHA:60
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Aggressive Systemic Mastocytosis	Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Hepatosplenomegaly, Lymp...	ORPHA:98850
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Apnea, Cardiomegaly, Increased muscle lipid content, Knee flexion contractu...	OMIM:608836
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Inguinal hernia, Short stature, Splenomegaly, Kyphosis, Fl...	ORPHA:87876
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Epistaxis, Cerebral hemorrhage, Petechiae, ...	ORPHA:99828
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu...	ORPHA:746
Childhood-Onset Nemaline Myopathy	Scapular winging, Reduced vital capacity, Polyhydramnios, Spinal rigidity, Respiratory insufficie...	ORPHA:171439
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Respiratory insufficiency due...	OMIM:611067
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Respiratory insufficiency, Respiratory failure, 3-Methylglutaconic...	OMIM:618329
Al Amyloidosis	Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormality of the liver, Abnormal salivary...	ORPHA:85443
Hemorrhagic Fever-Renal Syndrome	Back pain, Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrh...	ORPHA:340
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocytopenia...	OMIM:304790
Alpha-1-Antitrypsin Deficiency	Elevated hepatic transaminase, Hepatocellular carcinoma, Cough, Splenomegaly, Panacinar emphysema...	OMIM:613490
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno...	OMIM:259710
Immunodeficiency 24	Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Respiratory tract infection, Reduced propo...	OMIM:615897
Kaposi Sarcoma	Generalized lymphadenopathy, Skin rash, Lymphoproliferative disorder, Lymphedema, Venous insuffic...	ORPHA:33276
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut...	OMIM:243150
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea, Growth delay, Multiple lipomas, Intrauterine growth retardation, Lethargy	ORPHA:765
Cholestasis, Progressive Familial Intrahepatic, 3	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Po...	OMIM:602347
Methylmalonic Acidemia With Homocystinuria Type Cblf	Skin rash, Unilateral renal agenesis, Megaloblastic anemia, Intraventricular hemorrhage, Methylma...	ORPHA:79284
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septa...	ORPHA:980
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Hepatomegaly, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal...	OMIM:231680
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm...	OMIM:267450
Mitochondrial Complex I Deficiency, Nuclear Type 5	Hepatomegaly, Apnea, Respiratory insufficiency, Growth delay, Lethargy, Failure to thrive	OMIM:618226
Hemochromatosis, Type 1	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Cardiomegaly, Splenomegaly, Congestive hea...	OMIM:235200
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Melioidosis	Shock, Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Respiratory tra...	ORPHA:31202
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo...	OMIM:300696
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss, Lymphadenop...	ORPHA:86893
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormality of the spleen, L...	ORPHA:232
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Respiratory insuffici...	OMIM:610687
Gaucher Disease Type 2	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Cardiac arrest, Splenomegal...	ORPHA:77260
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Myasthenic Syndrome, Congenital, 5	Decreased muscle mass, Hyperlordosis, Respiratory insufficiency due to muscle weakness, Limb musc...	OMIM:603034
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Small cervical vertebral bodies, Recurrent respiratory infections,...	ORPHA:397715
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Abnormal blee...	ORPHA:480520
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Facial palsy, Thrombocyt...	OMIM:259720
Immunodeficiency 54	Hepatomegaly, Recurrent respiratory infections, Failure to thrive, Lymphoproliferative disorder, ...	OMIM:609981
Majeed Syndrome	Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Proteinuria, Edema, Cong...	ORPHA:77297
Cranioectodermal Dysplasia 2	Cholangitis, Polyhydramnios, Short neck, Hydrops fetalis, Renal cyst, Sparse hair, Atrial septal ...	OMIM:613610
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Lethargy, Patent ductus arteriosus	OMIM:610498
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Skeletal muscle atrophy, Lymphadenitis, Inflammation of the large intestine, Hepatic fibrosis, Ve...	OMIM:615895
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Sudden cardiac death, Renal...	ORPHA:156
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Lethargy, Increa...	OMIM:604377
Giant Cell Arteritis	Pericarditis, Alopecia, Renal insufficiency, Epistaxis, Abnormal pleura morphology, Sudden cardia...	ORPHA:397
Familial Atrial Myxoma	Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv...	ORPHA:615
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Aplastic anemia, Splenomegaly, Fulm...	OMIM:308240
Mucopolysaccharidosis, Type Vi	Flexion contracture, Anterior wedging of L1, Hepatomegaly, Lumbar hyperlordosis, Tricuspid regurg...	OMIM:253200
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Edema, Polyhydramnios, Secundum atrial septal defect, Primum atria...	OMIM:619534
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card...	OMIM:212138
Complement Component 4B Deficiency	Chronic active hepatitis, Asthma, Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media	OMIM:614379
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Necrotizing Enterocolitis	Shock, Apnea, Small for gestational age, Edema, Leukocytosis, Peritonitis, Abnormal heart morphol...	ORPHA:391673
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Abnormal macrophage morpho...	ORPHA:353
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl...	OMIM:609308
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp...	OMIM:614096
Methylmalonic Acidemia With Homocystinuria	Lethargy, Failure to thrive, Skin rash	ORPHA:26
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly	OMIM:609016
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Hepatomegaly, Myelodysplasia, Stroke, Cerebral ischemia, Lethargy, Failure ...	ORPHA:927
Classic Hodgkin Lymphoma	Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Respiratory insufficiency, Lymphadenopathy, Weig...	ORPHA:391
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Squamous cell carcinoma, Prostate cancer, Neutropenia, B-cell lymphoma, Myelodysplasia, T-cell ly...	ORPHA:158057
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurren...	OMIM:252920
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Hypertriglyceridemia, Skin rash, Failure to thrive in infancy, Splenomegaly	OMIM:619175
Cardiomyopathy, Familial Hypertrophic, 3	Hypertrophic cardiomyopathy, Sudden cardiac death	OMIM:115196
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Increased muscl...	OMIM:610717
Caspase 8 Deficiency	Recurrent sinopulmonary infections, Failure to thrive, Short stature, Pneumonia, Eczema, Splenome...	OMIM:607271
Mucopolysaccharidosis, Type Vii	Short neck, Thoracolumbar kyphosis, Flexion contracture, Hydrops fetalis, Coarse hair, Reduced le...	OMIM:253220
Evans Syndrome	Autoimmune hemolytic anemia, Epistaxis, Autoimmune thrombocytopenia, Dyspnea, Jaundice, Neutropen...	ORPHA:1959
Xeroderma Pigmentosum, Complementation Group G	Growth delay, Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly, Recurrent respiratory infections, Respiratory insufficiency	ORPHA:139406
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Roifman Syndrome	Noncompaction cardiomyopathy, Hip contracture, Biconvex vertebral bodies, Short stature, Eosinoph...	ORPHA:353298
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Splenomegaly, Lymphadenopathy, Joint swe...	ORPHA:85414
Gm1-Gangliosidosis, Type I	Beaking of vertebral bodies, Hepatomegaly, Inguinal hernia, Severe short stature, Abnormal heart ...	OMIM:230500
Common Variable Immunodeficiency	Elevated hepatic transaminase, Hemolytic anemia, Recurrent respiratory infections, Failure to thr...	ORPHA:1572
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Abnormal ...	ORPHA:2968
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus...	OMIM:609200
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Recurrent respiratory infections, Recurrent sinopulmonary infections, Splenomegaly, Bronchiectasi...	OMIM:615513
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Spondyloenchondrodysplasia With Immune Dysregulation	Increased intervertebral space, Irregular vertebral endplates, T lymphocytopenia, Neutropenia, Ju...	OMIM:607944
Acute Liver Failure	Hepatic necrosis, Hepatocellular necrosis, Intracranial hemorrhage, Hyperventilation, Abnormal bl...	ORPHA:90062
Carnitine Palmitoyltransferase I Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat...	OMIM:255120
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Short stature, Hyper...	ORPHA:369
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro...	OMIM:613404
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi...	ORPHA:228426
Gaucher Disease	Osteoarthritis, Hydrops fetalis, Cherry red spot of the macula, Abnormal bleeding, Hepatomegaly, ...	ORPHA:355
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o...	ORPHA:79230
Coproporphyria, Hereditary	Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Depression, Hypertension, Increased urinary po...	OMIM:121300
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficienc...	ORPHA:97214
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Hyperlordosis, Short neck, Abnormal sacrum morphology, Spina bifida occulta...	ORPHA:1797
Atypical Rett Syndrome	Sudden episodic apnea, Episodic tachypnea, Kyphosis, Growth delay, Scoliosis, Abnormal pattern of...	ORPHA:3095
Dihydropyrimidine Dehydrogenase Deficiency	Growth delay, Uraciluria, Lethargy, Failure to thrive, Reduced dihydropyrimidine dehydrogenase level	OMIM:274270
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Mediastinal lymphad...	ORPHA:91359
Muscle Filaminopathy	Back pain, Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dys...	ORPHA:171445
Hemochromatosis, Type 2B	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat...	OMIM:613313
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Elevated gamma-glutamyltransferase level, Hepatic steatosis, Hepatomegaly, Mem...	OMIM:619525
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Micrognathia, Shor...	ORPHA:2756
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,...	OMIM:619662
Congenital Disorder Of Glycosylation, Type Iih	Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte...	OMIM:611182
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Edema, Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephriti...	OMIM:619644
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Hypoventilation, Hyperlordosis, Respiratory insuffic...	OMIM:310200
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Short stature, Hyperlordosis, Cryptorchidism, Kyphosis, Polycysti...	ORPHA:3085
Spondylometaphyseal Dysplasia, Axial	Short stature, Rhizomelia, Splenomegaly, Recurrent pneumonia, Disproportionate short-trunk short ...	OMIM:602271
Classic Glucose Transporter Type 1 Deficiency Syndrome	Abnormal erythrocyte morphology, Lethargy	ORPHA:71277
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrah...	OMIM:607765
Aortic Arch Interruption	Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop...	ORPHA:2299
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Edema, Polyhydramnios, Hydrops f...	OMIM:232500
Leishmaniasis	Abnormal bleeding, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Elevated hepatic t...	ORPHA:507
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos...	OMIM:606612
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Weig...	ORPHA:100024
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Reduced vital capacity, Ankle flexion contracture, Centrally nucleated s...	OMIM:617760
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Lipodystrophy, Familial Partial, Type 6	Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Lipodystrophy, Hyperlipidemia, ...	OMIM:615980
Peroxisome Biogenesis Disorder 5A (Zellweger)	Renal cyst, Elevated gamma-glutamyltransferase level, Atrial septal defect, Lethargy, Intrahepati...	OMIM:614866
Isolated Agammaglobulinemia	Recurrent respiratory infections, Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Ab...	ORPHA:229717
Adult Acute Respiratory Distress Syndrome	Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ...	ORPHA:70578
Transaldolase Deficiency	Short neck, Synophrys, Hepatic fibrosis, Atrial septal defect, Patent foramen ovale, Hepatomegaly...	OMIM:606003
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos...	OMIM:611590
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent respiratory infections, Ventricular septal defect, Recurrent skin infecti...	OMIM:620210
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Reduced forced vital capa...	OMIM:620249
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob...	ORPHA:411703
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Abnormal bleeding, Acute pancreatitis, Maculopapular exanthema, Dysp...	ORPHA:319218
Hypocomplementemic Urticarial Vasculitis	Uveitis, Conjunctivitis, Cough, Emphysema, Hepatomegaly, Pericardial effusion, Angioedema, Lympha...	ORPHA:36412
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Scapular winging, Failure to thrive, Hyperlordosis, Mi...	OMIM:600462
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Congestive heart f...	ORPHA:163596
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Recurrent pharyngitis, Lymphadenopathy, Weight loss, Arthritis, Infec...	ORPHA:42642
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ...	OMIM:610198
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia ...	OMIM:253010
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Pancytopenia, Decreased methionine synthase activity, Skin rash, Dextrocardia, Stom...	OMIM:277380
Hyperinsulinism Due To Hnf1A Deficiency	Hepatomegaly, Tachycardia, Small for gestational age, Large for gestational age, Syncope, Palpita...	ORPHA:324575
Anauxetic Dysplasia 2	Short stature, Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, P...	OMIM:617396
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Pulmonary insufficiency, Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Abse...	ORPHA:277
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Short neck, Synophrys, Flexion contracture, Low anterior hairline, Leukopen...	OMIM:617303
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype...	ORPHA:363454
Mitochondrial Complex I Deficiency, Nuclear Type 11	Wolff-Parkinson-White syndrome, Hepatomegaly, Kyphosis, Congestive heart failure, Myopathy, Macro...	OMIM:618234
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Bronchiectasis, Ho...	OMIM:620282
Tarp Syndrome	Failure to thrive, Extramedullary hematopoiesis, Apnea, Abnormal hair pattern, Cryptorchidism, Ho...	ORPHA:2886
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Abnormal lung morphology, Abnormal form of the vertebral bodies, Papilloma, ...	ORPHA:464329
Joubert Syndrome 3	Central apnea, Episodic tachypnea, Highly arched eyebrow, Stage 5 chronic kidney disease, Nephron...	OMIM:608629
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank...	ORPHA:280333
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Hellp Syndrome	Back pain, Hemolytic anemia, Elevated hepatic transaminase, Decreased mean corpuscular hemoglobin...	ORPHA:244242
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Thoracic scoliosis, Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weaknes...	OMIM:255160
Amoebiasis Due To Entamoeba Histolytica	Elevated hepatic transaminase, Liver abscess, Lung abscess, Abnormal pericardium morphology, Acut...	ORPHA:67
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Slc35A1-Cdg	Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage	ORPHA:238459
Mucolipidosis Type Ii	Dry hair, White hair, Knee flexion contracture, Otitis media, Patent foramen ovale, Telangiectase...	ORPHA:576
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Recurrent respiratory infections, Hypopig...	ORPHA:100
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Leukopenia, Tubulointerstitial nephritis, ...	ORPHA:470
Tularemia	Respiratory distress, Brain abscess, Tachycardia, Skin rash, Pneumonia, Erythema nodosum, Abnorma...	ORPHA:3392
Immunodeficiency By Defective Expression Of Mhc Class Ii	Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash...	ORPHA:572
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Congestive heart failu...	ORPHA:2414
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Facial palsy, Erythema nodosum, Splenomegaly, Mediastinal lymphadenopathy, Pneumoth...	OMIM:612387
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Hepatosplenomegaly, Lymphaden...	ORPHA:911
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo...	ORPHA:729
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Short stature, Kyphosis, Obesity, Scoliosis	OMIM:616756
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Gastritis, Facial palsy, Renal in...	ORPHA:31826
Autosomal Dominant Progressive External Ophthalmoplegia	Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Lethargy, ...	ORPHA:254892
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular ...	OMIM:620135
Holocarboxylase Synthetase Deficiency	Alopecia, Skin rash, Tachypnea, Organic aciduria, Lethargy, Elevated urinary 3-methylcrotonylglyc...	OMIM:253270
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos...	OMIM:255200
Ogden Syndrome	Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Short neck, Microvesic...	OMIM:300855
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Bronchitis, T lymphocytopenia, Colitis, Pustular rash, B-c...	OMIM:619381
Tuberculosis	Abnormal lung morphology, Weight loss, Cough	ORPHA:3389
Renal Hypoplasia, Bilateral	Edema, Renal cyst, Vesicoureteral reflux, Lethargy, Decreased glomerular filtration rate, Neonata...	ORPHA:97362
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Weight loss, Adrenocorticotropic h...	ORPHA:100083
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Small for gestational age, Hypospadias, Polyhydramnios, Edema, Rhizomelia, ...	OMIM:607143
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Hypertriglyceridemia, Skin rash, Edema, Splenomegaly, Jaundice, Lymphadenopathy, An...	OMIM:603552
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Primary Hepatic Neuroendocrine Carcinoma	Intrahepatic cholestasis with episodic jaundice, Elevated gamma-glutamyltransferase level, Elevat...	ORPHA:100085
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial...	OMIM:300280
Craniofaciofrontodigital Syndrome	Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Abnormal cerebr...	ORPHA:363705
Marburg Hemorrhagic Fever	Back pain, Nonproductive cough, Dehydration, Uveitis, Leukopenia, Lethargy, Abnormal lymphocyte m...	ORPHA:99826
Acute Promyelocytic Leukemia	Leukopenia, Neutropenia, Ecchymosis, Abnormal bleeding, Leukocytosis, Lymphadenopathy, Gingival b...	ORPHA:520
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, H...	ORPHA:258
Omenn Syndrome	Hepatomegaly, Alopecia, Failure to thrive, Eosinophilia, Edema, Pneumonia, Splenomegaly, Leukocyt...	ORPHA:39041
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal bleeding, Elevated hepatic transaminase, Sple...	ORPHA:79301
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Small for gestational age, Short stature, Kyphoscoliosis, Hyperlordo...	OMIM:616817
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Tachypnea, Decreased body weight	OMIM:620085
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Decreased proportion of margi...	OMIM:619375
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Cardiomegaly, Oligosacchariduria, Hepatomegaly, Respiratory tract infection...	ORPHA:308552
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Hepatomegaly, Tachycardia, Increased urinary glycerol, Intermittent hyperve...	ORPHA:348
Trichohepatoenteric Syndrome 2	Hepatomegaly, Brittle hair, Small for gestational age, Chronic hepatitis, Colitis, Uncombable hai...	OMIM:614602
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy, D-2-hydroxyglutaric aciduria	OMIM:613657
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Recurrent respiratory infections, Inguinal hernia, Short stat...	OMIM:607015
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Short stature, Kyphoscoliosis, Centrally nucleat...	OMIM:619542
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened...	OMIM:261740
Combined Oxidative Phosphorylation Deficiency 44	Hypertrophic cardiomyopathy	OMIM:618855
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Rhizomelia, Broad femoral neck, Micrognathia, Giant platelets, Squared iliac bones, S...	OMIM:611209
Stuve-Wiedemann Syndrome 1	Micrognathia, Knee flexion contracture, Femoral bowing, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, C...	ORPHA:1164
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Lymphadenitis, T lymphocytopenia, Leukopenia, Neutropenia, Chronic p...	OMIM:618986
Reticular Dysgenesis	Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Dehydration, Weight loss...	ORPHA:33355
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Bradykinesia, Lethargy, Hypertrophic cardiomyopathy	OMIM:618683
Congenital Myopathy 16	Lumbar hyperlordosis, Flexion contracture, Scoliosis, Spinal rigidity	OMIM:618524
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Myositis, Fasciitis, Periorbital edema, Uveitis, Conjunctivitis, Abnormal sacroiliac joint morpho...	ORPHA:32960
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Elevated gamma-glutamyltransferase level, Retinal neovascularization, Nephropa...	ORPHA:247691
Agammaglobulinemia, X-Linked	T lymphocytopenia, Conjunctivitis, Neutropenia, Infectious encephalitis, Enteroviral hepatitis, E...	OMIM:300755
Cholera	Tachycardia, Abnormality of renal excretion, Tachypnea, Dehydration, Hypovolemic shock, Stroke, H...	ORPHA:173
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatomegaly, Decreased liver function, Acute hepatitis, Failure to thrive, Homocitrullinuria, Le...	OMIM:238970
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia	OMIM:613885
Glut1 Deficiency Syndrome 1	Lethargy, Paroxysmal lethargy	OMIM:606777
Granulomatosis With Polyangiitis	Sinusitis, Periorbital edema, Granulomatosis, Otitis media, Cough, Chronic otitis media, Ureteral...	ORPHA:900
Ethanolaminosis	Cardiomegaly	OMIM:227150
Immunodeficiency, Common Variable, 1	Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neutr...	OMIM:607594
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Elevated hepatic transaminase, Hepatomegaly, Oroticaciduria, Tachypnea, Hepatitis, Decreased live...	ORPHA:415
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Lymphedema, Splenomegaly, Jaundic...	ORPHA:1414
Mitochondrial Complex I Deficiency, Nuclear Type 15	Kyphosis, Flexion contracture, Myopathy, Neonatal death, Intrauterine growth retardation, Hypertr...	OMIM:618237
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Optic Atrophy 1	Pallor	OMIM:165500
Yao Syndrome	Ventricular hypertrophy, Pericarditis, Inflammatory abnormality of the skin, Skin rash, Asthma, X...	OMIM:617321
Mulibrey Nanism	Hepatomegaly, Short stature, Nephroblastoma, Cardiomegaly, Congestive heart failure, Hydrops feta...	OMIM:253250
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Hydrops ...	OMIM:613673
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, H...	OMIM:612541
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Decreased proportion of naive T cells, Aplasia of the thymus, Pneumonia, Sinus...	ORPHA:83471
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Breath-Holding Spells	Pallor	OMIM:607578
X-Linked Intellectual Disability, Stocco Dos Santos Type	Recurrent respiratory infections, Short stature, Small for gestational age, Kyphosis, Hirsutism	ORPHA:85288
Acute Peripheral Arterial Occlusion	Pallor	ORPHA:90064
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Congenital Disorder Of Glycosylation, Type Ia	Edema, Flexion contracture, Renal cyst, Hepatic fibrosis, Hypocholesterolemia, Hepatic steatosis,...	OMIM:212065
Myopathic Ehlers-Danlos Syndrome	Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c...	ORPHA:536516
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Isovaleric Acidemia	Pancytopenia, Cerebellar hemorrhage, Hyperglycinuria, Dehydration, Leukopenia, Bone marrow hypoce...	OMIM:243500
Mucopolysaccharidosis, Type Ii	Short neck, Flexion contracture, Hepatomegaly, Decreased iduronate sulfatase level, Short stature...	OMIM:309900
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Sudden episodic apnea, Rhabdo...	ORPHA:159
Spastic Paraplegia 18B, Autosomal Recessive	Skeletal muscle atrophy, Kyphosis, Scoliosis, Joint contracture, Lower limb muscle weakness	OMIM:611225
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thoracolumbar scoliosis, Portal hypertension, Hiatus hernia, Pancreatic cysts, Sple...	OMIM:610199
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri...	OMIM:243910
Mitochondrial Complex I Deficiency, Nuclear Type 1	3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hepatomegaly, Apnea, Hypospadias, Spleno...	OMIM:252010
Coccidioidomycosis	Respiratory distress, Abnormality of the spleen, Abnormality of the liver, Morbilliform rash, Cou...	ORPHA:228123
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Immunodeficiency, Common Variable, 2	Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Lymphoma, Bronchiectasis...	OMIM:240500
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre...	OMIM:619773
Masa Syndrome	Kyphosis, Short stature, Hyperlordosis	OMIM:303350
Hypertriglyceridemia, Transient Infantile	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Splenomegaly, H...	OMIM:614480
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Satoyoshi Syndrome	Short stature, Hyperlordosis, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absen...	ORPHA:3130
Behçet Disease	Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o...	ORPHA:117
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Skeletal muscle atrophy, Polyhydramnios, Flexion contracture, Abnormal card...	ORPHA:367
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist...	ORPHA:90308
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Skin rash, Pneumonia, R...	OMIM:300400
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Megaloblastic anemia, Pulmonary embolism, Hydrops fetalis, Dehydration, Neu...	ORPHA:79282
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Generalized Pseudohypoaldosteronism Type 1	Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Pustule, Glucocortocoid...	ORPHA:171876
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Failure to thrive, Thrombo...	ORPHA:67048
Leptospirosis	Respiratory distress, First degree atrioventricular block, Uveitis, Cough, Hepatomegaly, Cellular...	ORPHA:509
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ...	ORPHA:60033
Hurler Syndrome	Short neck, Hernia, Endocardial fibroelastosis, Abnormal vertebral morphology, Generalized hirsut...	ORPHA:93473
Mucopolysaccharidosis Type 6	Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphosis, Splenom...	ORPHA:583
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro...	OMIM:619802
Methionine Malabsorption Syndrome	Aminoaciduria, Tachypnea, White hair	OMIM:250900
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Leukocytosis, Increased...	ORPHA:90060
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:613752
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam...	OMIM:606842
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture...	ORPHA:267
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Esophageal neoplasm, Weight loss, Ascites	ORPHA:2198
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast...	ORPHA:160
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Short stature, Hyperlipidem...	OMIM:232400
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Disproportionate short stature, Atrioventricular block, Respiratory insufficiency, C...	ORPHA:93317
Diamond-Blackfan Anemia	Radial artery aplasia, Pure red cell aplasia, Short neck, Low anterior hairline, Reticulocytopeni...	ORPHA:124
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Malar rash, Leukopenia, Arthritis, Pleuritis, Ne...	OMIM:152700
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co...	OMIM:614700
Ogden Syndrome	Torticollis, Inguinal hernia, Ventricular septal defect, Postnatal growth retardation, Cryptorchi...	ORPHA:276432
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Elevated gamma-gluta...	OMIM:278000
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Right ventricular dilatation, Myopath...	ORPHA:369840
Immunodeficiency 8 With Lymphoproliferation	Recurrent upper respiratory tract infections, Chronic oral candidiasis, Recurrent otitis media, R...	OMIM:615401
Gaucher Disease, Perinatal Lethal	Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal...	OMIM:608013
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Three M Syndrome 1	Scapular winging, Neonatal respiratory distress, Small for gestational age, Hypospadias, Short st...	OMIM:273750
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Recurrent upper respiratory tract infections, Abnormal pulmon...	OMIM:613101
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos...	ORPHA:66661
Metaphyseal Chondrodysplasia, Spahr Type	Disproportionate short stature, Scoliosis, Hyperlordosis	ORPHA:2501
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop...	ORPHA:83469
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Dyspnea, Ve...	OMIM:230800
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short tibia, Ulnar bowing, Femoral bowing...	OMIM:620076
Oculopharyngodistal Myopathy	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Abnormality of orbicularis...	ORPHA:98897
Double Outlet Left Ventricle	Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Abnormal coronary art...	ORPHA:3427
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Lethargy, Tachycardia, Pancreatic islet-cell hyperplasia, Increased body weight	ORPHA:276608
Homocystinuria Without Methylmalonic Aciduria	Lethargy	ORPHA:622
Prolidase Deficiency	Hepatomegaly, Chronic lung disease, Petechiae, Eczema, Elevated circulating aspartate aminotransf...	OMIM:170100
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Neonatal respiratory distre...	OMIM:618870
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Mitochondrial Complex I Deficiency, Nuclear Type 35	Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Nonimmune hydrops fetalis,...	OMIM:619003
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Psoriasiform dermatitis...	ORPHA:183675
Classic Galactosemia	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit...	ORPHA:79239
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten...	ORPHA:767
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Lymphoproliferati...	OMIM:614470
Schnitzler Syndrome	Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Lymphoma, Lymphadenopathy, Arthr...	ORPHA:37748
Classic Mycosis Fungoides	Hepatomegaly, Alopecia, Skin rash, Eczema, Edema, Cutaneous T-cell lymphoma, Splenomegaly, Lympho...	ORPHA:2584
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Short stature, Short neck, Kyphosis, Biliary tract abnormality, Obesity, M...	ORPHA:3191
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Atrioventricular block, Abnormality of the liver, Neutropenia, Abno...	ORPHA:398124
Idiopathic Congenital Hypothyroidism	Facial edema, Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Lethargy	ORPHA:95717
Poems Syndrome	Lymphoproliferative disorder, Lipodystrophy, Edema, Pericardial effusion, Respiratory insufficien...	ORPHA:2905
Intermediate Osteopetrosis	Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Thrombocytope...	ORPHA:210110
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Renal insufficiency, Polycystic liver disease, Pancreatic fibro...	OMIM:208500
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Hepatomegaly, Recurrent respiratory infections, Right axis deviat...	OMIM:232300
Nocardiosis	Respiratory distress, Liver abscess, Lymphadenitis, Nonproductive cough, Conjunctivitis, Emphysem...	ORPHA:31204
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Recurrent respiratory infections, Enamel hypoplasia, Hepatitis, Sparse lateral eyebrow	ORPHA:363523
Mucolipidosis Iii Gamma	Aortic regurgitation, Short stature, Increased iduronate sulfatase level, Hyperlordosis, Short ne...	OMIM:252605
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis...	ORPHA:264580
Porphyria Cutanea Tarda	Elevated hepatic iron concentration, Hepatic steatosis, Scarring, Corneal scarring, Chronic hepat...	ORPHA:101330
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Postnatal growth retardation, Abnormality of chromosome stability, Pancytopenia, Intrauterine gro...	OMIM:600546
Neuroendocrine Tumor Of The Colon	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100080
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Hip contracture, Inguinal hernia, Short stature, Kyphoscoliosis, Hyperlordosis, Disproportionate ...	OMIM:618363
Tetanus	Respiratory distress, Tachycardia, Elevated urinary norepinephrine level, Tachypnea, Elevated uri...	ORPHA:3299
Spondyloepimetaphyseal Dysplasia, Shohat Type	Severe short stature, Hyperlordosis, Short neck, Premature osteoarthritis, Disproportionate short...	ORPHA:93352
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Epistaxis, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impa...	OMIM:153670
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Tetralogy of Fallot, Aminoaciduria, Abnormality of the vertebral column, Lethargy, Failure to thr...	OMIM:250620
Immunodeficiency 32B	Hepatomegaly, Recurrent respiratory infections, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia,...	OMIM:226990
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Short stature, Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy, 3-Methylglutaco...	OMIM:618120
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Refractory anemia with ringed sideroblasts, Neutropenia, Erythroid hyperplasia...	ORPHA:75564
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Alopecia, Autoimmune thrombocytopenia, Iridocyclitis, Xero...	ORPHA:227990
Hepatorenocardiac Degenerative Fibrosis	Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosp...	OMIM:619902
Triosephosphate Isomerase Deficiency	Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Respiratory dist...	OMIM:615512
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Respiratory insufficiency, Lymphadenopathy, Weight loss, Inflamma...	ORPHA:26790
Mucolipidosis Ii Alpha/Beta	Brittle hair, Cardiomegaly, Sparse hair, Hepatomegaly, Thoracolumbar kyphoscoliosis, Sparse eyebr...	OMIM:252500
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Postinfectious Vasculitis	Gastrointestinal inflammation, Bacterial endocarditis, Recurrent streptococcus pneumoniae infecti...	ORPHA:48435
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, Splenomeg...	ORPHA:1328
Myasthenia Gravis	Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, Hepatitis, Abnorm...	ORPHA:589
Braddock-Carey Syndrome 1	Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper...	OMIM:619980
Pseudo-Torch Syndrome 3	Apnea, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Lymphadenitis, Leukocytosis, Respiratory i...	OMIM:618886
Citrullinemia Type Ii	Elevated hepatic transaminase, Hepatomegaly, Decreased body mass index, Hypertriglyceridemia, Hyp...	ORPHA:247585
Radiation Proctitis	Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Abnorm...	ORPHA:70475
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Lethargy	OMIM:613710
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recur...	OMIM:252900
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Polyhydramnios, Fetal ascites...	OMIM:261515
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Bicuspid aortic valve, Microvesicular hepatic steatosis, Tachypnea, Aortic valve atresia, Low ant...	OMIM:220111
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Pontocerebellar Hypoplasia, Type 6	Lethargy, Failure to thrive, Apnea, Elbow contracture	OMIM:611523
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Failure to thrive, Edema, Short neck, Pericardial effusion, Kyphosis, Hepatosplenom...	OMIM:608776
Familial Partial Lipodystrophy, Dunnigan Type	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ...	ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Splen...	OMIM:619868
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy...	OMIM:167320
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Pedal ed...	ORPHA:75565
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Lethargy, Megaloblastic anemia	OMIM:236270
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Alopecia, Autoimmune hypoparathyroidism, Autoimmune thromb...	ORPHA:227982
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Myeloid leukemia, Hepatomegaly, Neutrophilia, Myelodysplasia, Leukocytosis, Ly...	ORPHA:98849
Cartilage-Hair Hypoplasia	Short neck, Heart block, Abnormal form of the vertebral bodies, Neutropenia, Sparse hair, Hepatom...	ORPHA:175
Pparg-Related Familial Partial Lipodystrophy	Prominent veins on trunk, Hepatic steatosis, Generalized hirsutism, Loss of facial adipose tissue...	ORPHA:79083
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Short stature, Se...	ORPHA:99642
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Short stature, Eczema, Abscess, Perianal abscess, Lymphaden...	OMIM:618935
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis, Cough	ORPHA:163703
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o...	ORPHA:423
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Absent eyebrow, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Ventricular se...	ORPHA:436252
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Reduced subcutaneous adipose tissue, Recurrent respiratory infections, Decreased muscle mass, Lum...	ORPHA:3041
Lathosterolosis	Toe syndactyly, Increased mean platelet volume, Acanthocytosis, Micrognathia, Postaxial hand poly...	OMIM:607330
Congenital Fiber-Type Disproportion Myopathy	Polyhydramnios, Flexion contracture, Knee flexion contracture, Aspiration pneumonia, Foot dorsifl...	ORPHA:2020
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Precocious atherosclerosis, Renal salt wasting, Microvesicular hepatic st...	ORPHA:275761
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Short stature, Splenomegaly, Vasc...	ORPHA:575
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Immunodeficiency 56	Recurrent respiratory infections, Cholangitis, Hepatic failure, Recurrent pneumonia, Bronchiectas...	OMIM:615207
Temporal Arteritis	Retinal arteritis	OMIM:187360
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Re...	ORPHA:1909
Caroli Disease	Liver abscess, Cholangitis, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatomeg...	ORPHA:53035
Takayasu Arteritis	Arteritis	OMIM:207600
Aredyld Syndrome	Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Lipoatrophy, Splenomega...	ORPHA:1133
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Polyhydramnios, Increased intervertebral space, T lymphocytopenia, Capillary hemangioma, Abnormal...	ORPHA:508533
Developmental And Epileptic Encephalopathy 92	Lethargy	OMIM:617829
Hemochromatosis, Type 3	Elevated hepatic transaminase, Cardiomyopathy, Arthritis, Cirrhosis, Neutropenia, Lymphopenia, An...	OMIM:604250
Bronchogenic Cyst	Back pain, Abnormal peritoneum morphology, Pulmonary cyst, Abnormal pericardium morphology, Pneum...	ORPHA:2357
Myopathy, Myofibrillar, 6	Scapular winging, Thoracic scoliosis, Facial palsy, Restrictive cardiomyopathy, Spinal rigidity, ...	OMIM:612954
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Abnormal circulating enzyme concentration or activity, Hypopigmentation of hair, Congestive heart...	ORPHA:70472
Autism Spectrum Disorder Due To Auts2 Deficiency	Inguinal hernia, Small for gestational age, Eczema, Highly arched eyebrow, Short stature, Kyphosi...	ORPHA:352490
Anencephaly 2	Anophthalmia	OMIM:619452
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Synophrys, Recurr...	OMIM:252930
Early Myoclonic Encephalopathy	Recurrent respiratory infections, Lethargy	ORPHA:1935
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Primary Triglyceride Deposit Cardiomyovasculopathy	Vacuolated lymphocytes, Increased muscle lipid content, Abnormal cardiomyocyte morphology, Hepato...	ORPHA:565612
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, B-cell lymphoma, Lymphoproli...	OMIM:613011
Drug-Induced Lupus Erythematosus	Pericarditis, Petechiae, Pericardial effusion, Dyspnea, Anemia, Hematuria, Serositis, Malar rash,...	ORPHA:231111
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency, Hypoplastic left ...	OMIM:616276
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Polyhydramnios, Splenomegaly, Abnormality of the ureter, Respir...	ORPHA:1046
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Hypersensitivity pneumonitis, Atelectasis, Leukocytosis, Hypereosinophilia, Atopic derm...	ORPHA:2902
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy, Failure to thrive	OMIM:619651
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w...	OMIM:616228
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension, Hepatic failure, Acute kidney ...	ORPHA:43116
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Methylmalonic Aciduria, Cblb Type	Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Decreased methylmalonyl-CoA mutase a...	OMIM:251110
Ck Syndrome	Kyphosis, Slender build, Scoliosis, Hyperlordosis	OMIM:300831
Typical Nemaline Myopathy	Facial palsy, Polyhydramnios, Short neck, Hyperlordosis, Limb-girdle muscle weakness, Kyphosis, F...	ORPHA:171436
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness	ORPHA:320360
Scedosporiosis	Pericarditis, Sinusitis, Arthralgia/arthritis, Pneumonia, Bronchitis, Osteomyelitis, Bronchial br...	ORPHA:449280
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Respiratory ...	OMIM:256050
Meige Disease	Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio...	ORPHA:90186
Congenital Gerbode Defect	Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf...	ORPHA:99095
Hurler Syndrome	Short neck, Flexion contracture, Hernia, Endocardial fibroelastosis, Hepatomegaly, Short stature,...	OMIM:607014
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Edema, Polyhydramnios, Flex...	ORPHA:98905
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Amyloidosis, Familial Visceral	Hepatomegaly, Skin rash, Proteinuria, Edema, Splenomegaly, Cholestasis, Hematuria, Hypertension, ...	OMIM:105200
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Polyhydramnios, Cardiomegaly, Asplenia, Biliary atresia, Dextrotranspositio...	OMIM:306955
Combined Oxidative Phosphorylation Deficiency 10	Failure to thrive, Small for gestational age, Cardiomegaly, Pericardial effusion, Pleural effusio...	OMIM:614702
Neuroendocrine Tumor Of The Rectum	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100082
Proteus Syndrome	Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Multiple lipomas, Lipoma, Lymphangioma, Hema...	OMIM:176920
Cirrhosis, Familial	Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Increased level of L-fu...	OMIM:215600
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Cough, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepa...	ORPHA:79124
Joubert Syndrome 30	Tachypnea, Apnea	OMIM:617622
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis	OMIM:615761
Neuroendocrine Tumor Of Stomach	Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Chronic noninfectious lymph...	ORPHA:100075
Fanconi Anemia, Complementation Group E	Pancytopenia, Short stature, Chromosomal breakage induced by crosslinking agents, Prolonged G2 ph...	OMIM:600901
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Pneumonia, Recurrent upper respiratory tract infections, Atopic dermatitis, T lymphocytopenia, Na...	OMIM:618806
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Severe short stature, Abnormal atrioventri...	ORPHA:3208
Glycine Encephalopathy 1	Lethargy	OMIM:605899
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or...	ORPHA:79095
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618235
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Skeletal muscle atrophy, Hepatomegaly...	OMIM:614162
Fanconi Anemia, Complementation Group C	Pancytopenia, Short stature, Chromosomal breakage induced by crosslinking agents, Prolonged G2 ph...	OMIM:227645
Thymoma	Myositis, Non-Hodgkin lymphoma, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Neopl...	ORPHA:99867
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, Hydrops fetalis, Dehydration, 3-Methylglutaric aciduria,...	OMIM:557000
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a...	OMIM:230350
Nephroblastoma	Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hypertension, Lymphadenopathy, Hematuri...	ORPHA:654
Alg1-Cdg	Renal insufficiency, Kyphosis, Abnormal heart morphology, Cardiomyopathy, Respiratory failure, Ne...	ORPHA:79327
Wilson Disease	Acute hepatic failure, Edema, Osteoarthritis, Pedal edema, Aminoaciduria, Hepatic steatosis, Hypo...	OMIM:277900
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Kyphosis, Arrhythmia, Short stature, Camptodactyly	OMIM:618453
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Low anterior hairline, Abnormal form of the vertebral bodies, Hernia, Cough, Ch...	ORPHA:579
Microcephaly-Micromelia Syndrome	Craniosynostosis, Micrognathia, Micromelia, Absent thumb, Absent radius, Humeroradial synostosis,...	OMIM:251230
Noonan Syndrome 12	Ventricular septal defect, Decreased response to growth hormone stimulation test, Polyhydramnios,...	OMIM:618624
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Recurren...	OMIM:615122
Niemann-Pick Disease, Type A	Hepatomegaly, Skeletal muscle atrophy, Recurrent respiratory infections, Foam cells with lamellar...	OMIM:257200
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Obesity	OMIM:620270
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Hepatomegaly, Pso...	ORPHA:436159
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis	ORPHA:33402
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Intrauterine ...	OMIM:619573
Gray Platelet Syndrome	Abnormal bleeding, Epistaxis, Myelodysplasia, Splenomegaly, Bruising susceptibility, Thrombocytop...	ORPHA:721
Anaplastic Thyroid Carcinoma	Respiratory distress, Neoplasm of the skeletal system, Dyspnea, Upper airway obstruction, Lymphad...	ORPHA:142
Multiple Mitochondrial Dysfunctions Syndrome 1	Increased urine alpha-ketoglutarate concentration, Failure to thrive, Alpha-aminoadipic aciduria,...	OMIM:605711
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia, Small for gestational age, Decreased ...	OMIM:216550
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypoparathyroidism, Macrocytic anemia, Orthostatic hypotension, Decreased circ...	ORPHA:199299
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma...	OMIM:209920
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability, Anemia, Growth delay, Neutropenia, Leukemia, Thrombocytopenia	OMIM:614082
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, B-cell lymph...	OMIM:619924
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Small for gestational age, Polyhydramnios, Short neck, Cardiomegaly, H...	OMIM:616897
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Brain abscess, Lumbar hyperlordosis, Rhizomelia, Urinary inc...	OMIM:616482
Chronic Mucocutaneous Candidiasis	Abnormal endocardium morphology, Recurrent respiratory infections, Skin rash, Abnormal dental ena...	ORPHA:1334
Familial Thrombocytosis	Acute myeloid leukemia, Abnormal bleeding, Transient ischemic attack, Myelodysplasia, Splenomegal...	ORPHA:71493
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Elevated gamma-glutamyltransferase level, Atrial septal defe...	OMIM:614576
Hsd10 Disease, Neonatal Type	Abnormal concentration of acylcarnitine in the urine, Abnormal circulating enzyme concentration o...	ORPHA:391457
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Edema, Disseminated cutaneous warts, Pericardial effusion, Abnormal lymphati...	ORPHA:90362
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Splenomegaly, Jaundice, Cholestasis, Neoplasm, Failure to thrive	ORPHA:172
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Hepatomegaly, Hypoventilation, Failure to thrive, Elevated hepatic transam...	OMIM:203700
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Skin rash, Short stature, Diffuse alveolar hemorrhage, Splenomeg...	OMIM:616050
Alpha-Mannosidosis	Hepatomegaly, Recurrent respiratory infections, Inguinal hernia, Short neck, Kyphosis, Splenomega...	ORPHA:61
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,...	ORPHA:263455
Crigler-Najjar Syndrome	Lethargy, Jaundice, Abnormality of the liver, Infectious encephalitis	ORPHA:205
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Periorbital edema, Leukocytosis, Cervical lymphadenopathy, Oliguria, We...	ORPHA:514
Cyclic Vomiting Syndrome	Growth delay, Cardiomyopathy, Lethargy	OMIM:500007
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Hepatomegaly, Elevated hepatic transaminase, Ankle flexion contracture, Spl...	OMIM:608799
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro...	OMIM:616483
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Camptodactyly of finger, Abnormal pulmonary valve morphology, Congesti...	ORPHA:1194
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Noonan Syndrome 8	Curly hair, Failure to thrive, Ventricular septal defect, Eczema, Polyhydramnios, Short neck, Lar...	OMIM:615355
Pyruvate Dehydrogenase E1-Alpha Deficiency	Lethargy, Respiratory failure, Small for gestational age, Apneic episodes precipitated by illness...	OMIM:312170
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Respiratory insufficiency due to muscle weakn...	ORPHA:399058
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Mccune-Albright Syndrome	Hepatitis, Renal phosphate wasting, Renal tubular dysfunction, Ovarian cyst, Increased circulatin...	ORPHA:562
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Sickle Cell Disease	Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc...	OMIM:603903
Myasthenic Syndrome, Congenital, 16	Apnea, Hyperlordosis	OMIM:614198
Syndromic Diarrhea	Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplasia of the thymus,...	ORPHA:84064
Sarcoidosis, Susceptibility To, 1	Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Cough, Emphysema, Abno...	OMIM:181000
Methylmalonic Aciduria, Cbla Type	Respiratory distress, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ac...	OMIM:251100
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb amyotrophy, Scoliosis, Low...	OMIM:617087
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo...	ORPHA:435387
Fanconi Anemia, Complementation Group A	Pancytopenia, Short stature, Chromosomal breakage induced by crosslinking agents, Prolonged G2 ph...	OMIM:227650
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Situs inversus totali...	OMIM:615415
Familial Mediterranean Fever	Acute hepatic failure, Myocardial infarction, Osteoarthritis, Pedal edema, Nephrocalcinosis, Neph...	ORPHA:342
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo...	ORPHA:98912
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ...	ORPHA:1354
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, H...	OMIM:617591
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Apnea, Polyhydramnios, Short neck, Low anterior hairline, Wrist flexion ...	ORPHA:800
Mulchandani-Bhoj-Conlin Syndrome	Severe short stature, Hyperlordosis, Horseshoe kidney, Scoliosis, Intrauterine growth retardation...	OMIM:617352
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Facial palsy, Short stature, Short neck, Hyperlordosis, Kyp...	OMIM:314580
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Facial palsy, Central hypove...	ORPHA:171881
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb...	OMIM:615010
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Thoracic scoliosis, Achilles tendon contracture, Hyperlordosis	ORPHA:62
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Short stature, Eczema, Kyphosis, Facial myokymia, Failure to thrive	OMIM:620007
Meckel Syndrome, Type 1	Accessory spleen, Omphalocele, Camptodactyly of finger, Malformation of the hepatic ductal plate,...	OMIM:249000
Juvenile Dermatomyositis	Calcinosis, Bundle branch block, Myositis, Pericarditis, Palpebral edema, Gastrointestinal hemorr...	ORPHA:93672
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Abnormal bleeding, Acute kidney injury, Crackles, Hepatic failure, Rhabdom...	ORPHA:466650
Cataract-Intellectual Disability-Hypogonadism Syndrome	Short stature, Hypogonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Low posterior hairli...	ORPHA:1387
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Hemochromatosis, Type 4	Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis, Anemia	OMIM:606069
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Nodular pattern on pulmonary HRCT, Crackles...	OMIM:233450
Trisomy 13	Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi...	ORPHA:3378
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Lumbar hyperlordosis, Short stature, Cryptorchidism, Obe...	OMIM:619185
Joubert Syndrome	Apnea, Episodic tachypnea, Highly arched eyebrow, Situs inversus totalis, Abnormal form of the ve...	ORPHA:475
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Elevated hepatic transaminase, Failure to thrive, 4-hydroxyphenylacetic aci...	OMIM:617156
Immunodeficiency 36 With Lymphoproliferation	Short stature, B-cell lymphoma, Splenomegaly, Recurrent upper respiratory tract infections, Enlar...	OMIM:616005
Blau Syndrome	Xerostomia, Large vessel vasculitis, Abnormality of the liver, Posterior uveitis, Nephropathy, Ab...	ORPHA:90340
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Severe B lymphocytopenia, Sinusitis, Hepatomegaly, B-cell lymphoma, ...	OMIM:102700
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Short stature, Elevated circulating aspartate aminotransferase concent...	OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Epistaxis, Short stature, Splenome...	OMIM:211600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Iron deficiency anemia, Increased B cell count, Nephritis, Elevated proportion of CD4-negative, C...	OMIM:603909
Immunodeficiency 69	Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ...	OMIM:618963
Joubert Syndrome With Oculorenal Defect	Renal insufficiency, Apnea, Highly arched eyebrow, Tachypnea, Scoliosis, Nephropathy	ORPHA:2318
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Pyruvate Carboxylase Deficiency	Hepatomegaly, Tachypnea, Lacticaciduria, Dehydration, Growth delay, Apathy, Failure to thrive, Ab...	ORPHA:3008
Hypochondroplasia	Hyperlordosis, Osteoarthritis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Scol...	ORPHA:429
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Neonatal respiratory distress, Psoriasiform dermatitis, Palpebral edema, Unilateral renal agenesi...	ORPHA:221139
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Multiple Endocrine Neoplasia Type 2	Multiple mucosal neuromas, Pheochromocytoma, Elevated urinary vanillylmandelic acid, Cervical neo...	ORPHA:653
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Lymphatic Malformation 7	Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ...	OMIM:617300
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Increased inflammatory response, Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Kne...	ORPHA:2848
Sézary Syndrome	Skeletal muscle atrophy, Hepatomegaly, Alopecia, Edema, Abnormal pleura morphology, Cutaneous T-c...	ORPHA:3162
Severe Canavan Disease	Lethargy	ORPHA:314911
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Sarcoidosis	Heart block, Increased T cell count, Abnormal lung morphology, Ventricular tachycardia, Uveitis, ...	ORPHA:797
Peripheral Primitive Neuroectodermal Tumor	Back pain, Abnormal thoracic spine morphology, Torticollis, Neoplasm of the pancreas, Abnormal bl...	ORPHA:370348
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, C...	ORPHA:445038
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Hypoplasia of the odontoid pr...	OMIM:264180
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Lethargy, Hyperventilation	OMIM:229700
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Immunodeficiency 22	Pericarditis, Failure to thrive, Abscess, Recurrent upper respiratory tract infections, Capillary...	OMIM:615758
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Respiratory insufficiency, Ab...	ORPHA:93941
Pediatric Systemic Lupus Erythematosus	Myositis, Edema, Leukopenia, Nephritis, Alopecia, Pericardial effusion, Raynaud phenomenon, Lymph...	ORPHA:93552
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis, Respiratory insufficiency, Joint swelling, Arthri...	OMIM:228000
Attrv30M Amyloidosis	Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor...	ORPHA:85447
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma, Weight loss	ORPHA:2023
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Lethargy	OMIM:617900
Mirage Syndrome	Decreased body weight, Hypospadias, Petechiae, Myelodysplasia, Short stature, Thrombocytopenia, P...	OMIM:617053
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Microscopic Polyangiitis	Episcleritis, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Increased inflammatory respon...	ORPHA:727
Gaba-Transaminase Deficiency	Lethargy	OMIM:613163
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Splenomegaly, Lymphoma, Lymphadenopathy, Growth delay, Ascites, Anemia	ORPHA:100025
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Lymphopenia	OMIM:247800
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Acute hepatic...	ORPHA:36426
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale...	OMIM:614582
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Leukopenia, Hashimoto thyroiditis, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Rayn...	OMIM:615688
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea...	ORPHA:85451
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Cholestasis-Lymphedema Syndrome	Elevated hepatic transaminase, Hepatomegaly, Lymphedema, Splenomegaly, Jaundice, Hyperlipidemia, ...	OMIM:214900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan...	ORPHA:54251
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis, Short stature, Premature osteoarthritis, Hip osteoarthritis, Exostoses	OMIM:165800
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu...	OMIM:150550
Sea-Blue Histiocyte Disease	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating...	OMIM:269600
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Skin rash, Short stature, Splenomegaly, Jaundice, Patent...	ORPHA:290
Fusariosis	Myositis, Fasciitis, Sinusitis, Abnormality of the spleen, Abnormality of the liver, Neutropenia,...	ORPHA:228119
Isolated Complex I Deficiency	Hepatomegaly, Respiratory insufficiency, Proximal tubulopathy, Intrauterine growth retardation, H...	ORPHA:2609
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Protei...	OMIM:614034
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Episodic tachypnea	ORPHA:163961
Desbuquois Dysplasia 1	Neonatal respiratory distress, Severe short stature, Hyperlordosis, Short neck, Kyphosis, Osteoar...	OMIM:251450
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Abnormal intervertebral disk morphology, Abnormal heart valve morphology, Pulmonary embolism, Con...	ORPHA:1345
Rift Valley Fever	Back pain, Abnormal bleeding, Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, He...	ORPHA:319251
T-Cell Immunodeficiency With Thymic Aplasia	Failure to thrive, Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumo...	OMIM:242700
Pycnodysostosis	Rhizomelia, Decreased response to growth hormone stimulation test, Hyperlordosis, Overweight, Kyp...	ORPHA:763
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Polyhydramnios, Flexion contracture, Facial diplegia, Card...	ORPHA:171433
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi...	OMIM:615387
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Myopathy, Myofibrillar, 2	Orthopnea, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weakness, Quadric...	OMIM:608810
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Parastremmatic Dwarfism	Severe short stature, Short neck, Kyphosis, Flexion contracture, Scoliosis	OMIM:168400
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Periorbital edema, Pedal edema, Hepatomegaly, Vasc...	ORPHA:33226
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Acute hepatic failure, ...	ORPHA:131
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Short stature, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused...	ORPHA:2522
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of C...	ORPHA:169154
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Epistaxis, Anemia	OMIM:616176
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Bile duct proliferation, Atrial septal defect, Intrauterin...	OMIM:611134
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Accelerated atherosclerosis, Precocious atherosclerosis, Premature graying of hair, Increased int...	ORPHA:280365
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Asthma, Atopic ...	ORPHA:217390
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Elevated urinary 3-hydroxybutyric acid, Ketonuria, Jaundice, Tachypnea, Lacticaciduria, Elevated ...	OMIM:615751
Fetal Parvovirus Syndrome	Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro...	ORPHA:295
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Brain abscess, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial...	ORPHA:2038
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Congenital Disorder Of Glycosylation, Type Iij	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Thick hair, Spleno...	OMIM:613489
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Short stature, Splenomegaly, Low alkaline phosphatase, Alopecia of scalp, Lethargy,...	OMIM:201100
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Myelodysplasia, Microcytic anemia, Splenomegaly, Dyspnea, Acute leukemia, Neut...	ORPHA:231401
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Highly arched eyebrow, Hamartoma of tongue, Bilateral cryptorchidism, ...	ORPHA:2754
Joubert Syndrome 6	Breathing dysregulation, Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosi...	OMIM:610688
Immunodeficiency 83, Susceptibility To Viral Infections	Lethargy	OMIM:613002
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Hyperlordosis, Intrinsic ha...	OMIM:620285
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Tricuspid regurgitation, Abnormal circulating ceruloplasmin concentration, Talipes e...	OMIM:620306
Familial Thyroid Dyshormonogenesis	Facial edema, Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Lethargy,...	ORPHA:95716
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenomegaly, Jaundi...	OMIM:612714
Congenital Tracheomalacia	Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri...	ORPHA:95430
Autoimmune Polyendocrine Syndrome, Type Ii	Alopecia, Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Iro...	OMIM:269200
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Cronkhite-Canada Syndrome	Hepatomegaly, Alopecia, Cachexia, Lymphedema, Splenomegaly, Hamartomatous polyposis, Aplasia/Hypo...	ORPHA:2930
Intellectual Disability And Myopathy Syndrome	Lumbar hyperlordosis, Achilles tendon contracture, Atopic dermatitis, Scoliosis, Left ventricular...	OMIM:619719
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclit...	OMIM:240300
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula...	ORPHA:91387
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Insulinoma	Abnormality of the pancreatic islet cells, Primary hyperparathyroidism, Increased body weight, Ne...	ORPHA:97279
Hyperlysinuria With Hyperammonemia	Growth delay, Lethargy	OMIM:238750
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Lethargy, Failure to thrive	OMIM:237310
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Respiratory insufficienc...	OMIM:610333
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis	OMIM:615119
Central Diabetes Insipidus	Dehydration, Depression, Weight loss, Lethargy, Failure to thrive, Nocturia	ORPHA:178029
Tako-Tsubo Cardiomyopathy	Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec...	ORPHA:66529
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Cardiomyopathy, Macrocytic anemia, Failure to thrive	OMIM:619046
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Ventricular septal defect, Alopecia totalis, Small for gestational ...	OMIM:618775
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Short stature, Splenomegaly, Thrombocytopenia, Depression, Decreased ...	OMIM:231000
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Bile duct p...	OMIM:607361
Bloom Syndrome	Bronchitis, Adipose tissue loss, Uveitis, Neoplasm, Neoplasm of the breast, Otitis media, Decreas...	ORPHA:125
Sepsis In Premature Infants	Abnormal mucociliary clearance, Edema, Neutropenia, Abnormal bleeding, Hepatomegaly, Leukocytosis...	ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iio	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated alkaline phosphata...	OMIM:616828
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Osteomyelitis, Edema, Skin rash, Abnormal sacroiliac joint morphol...	ORPHA:324964
Combined Immunodeficiency, X-Linked	Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo...	OMIM:312863
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Renal insuff...	ORPHA:537
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness...	ORPHA:352447
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Alpha-N-Acetylgalactosaminidase Deficiency	Lymphedema, Cardiomegaly, Recurrent pneumonia, Oligosacchariduria, Scoliosis	ORPHA:3137
Dihydropyrimidinase Deficiency	Growth delay, Lethargy	OMIM:222748
Combined Oxidative Phosphorylation Deficiency 17	Postnatal growth retardation, Congestive heart failure, Intrauterine growth retardation, Hypertro...	OMIM:615440
Gm1 Gangliosidosis Type 1	Hydrops fetalis, Hepatosplenomegaly, Hypoplastic vertebral bodies, Macroglossia, Cardiomyopathy, ...	ORPHA:79255
Immunodeficiency 50	Recurrent respiratory infections, Lymphopenia, Eczema, Neutropenia	OMIM:300988
Portal Hypertension, Noncirrhotic, 2	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Epistaxis, Portal hypertension, Nodular r...	OMIM:619463
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Abnormal pericardium morphology, Dysuria, Retroper...	ORPHA:35687
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Apnea, Decreased response to growth hormone stimulation test, Fetal ascites, Ascending aorta hypo...	OMIM:619503
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Neona...	OMIM:601186
Microlissencephaly	Pneumonia	ORPHA:1083
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Nonimmune hydro...	OMIM:619313
Benign Samaritan Congenital Myopathy	Lethargy, Internally nucleated skeletal muscle fibers, Abnormal respiratory system physiology, Ce...	ORPHA:324581
Hypercalcemia, Infantile, 1	Polyuria, Nephrolithiasis, Dehydration, Weight loss, Nephrocalcinosis, Hypercalciuria, Lethargy, ...	OMIM:143880
Xeroderma Pigmentosum, Complementation Group F	Deficient excision of UV-induced pyrimidine dimers in DNA, Short stature, Defective DNA repair af...	OMIM:278760
Familial Aortic Dissection	Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,...	ORPHA:229
Congenital Disorder Of Glycosylation, Type Iic	Neutrophilia, Short stature, Pneumonia, Widow's peak, Periodontitis, Recurrent otitis media, Redu...	OMIM:266265
Sengers Syndrome	Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Growth delay, Myopathy, 3-Methyl...	OMIM:212350
Ck Syndrome	Lumbar hyperlordosis, Slender build, Kyphoscoliosis	ORPHA:251383
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati...	ORPHA:906
Chronic Visceral Acid Sphingomyelinase Deficiency	Cherry red spot of the macula, Abnormal bleeding, Hepatomegaly, Bipolar affective disorder, Short...	ORPHA:77293
Mitochondrial Complex I Deficiency, Nuclear Type 4	Lethargy, Apnea	OMIM:618225
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension ...	OMIM:105210
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Accelerated atherosclerosis, Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Acute hepatic...	ORPHA:209902
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Abnormality of the spleen, Splenomegaly, Flexion contracture, Hydrops...	ORPHA:85212
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Hydrops fetalis, Aplasia/Hypoplasia of...	ORPHA:2204
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc...	OMIM:307800
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Neutrophilia, Crackles, Nonproductive cough, Leukoc...	ORPHA:1302
Igg4-Related Aortitis	Low back pain, Increased inflammatory response, Thoracic aortic aneurysm, Asthma, Hypereosinophil...	ORPHA:449400
Martsolf Syndrome 1	Recurrent respiratory infections, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Cardia...	OMIM:212720
Meningococcal Meningitis	Shock, Neonatal respiratory distress, Renal insufficiency, Skin rash, Stroke, Hypotension, Lethar...	ORPHA:33475
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Tricuspid stenosis, Edema, Right ventricular failure, Arterial occ...	ORPHA:100078
Giant Axonal Neuropathy 2, Autosomal Dominant	Cardiomyopathy, Distal amyotrophy	OMIM:610100
8P23.1 Microdeletion Syndrome	Hypospadias, Short stature, Congenital diaphragmatic hernia, Short neck, Cryptorchidism, Pulmonar...	ORPHA:251071
Cyclic Neutropenia	Sinusitis, Recurrent skin infections, Cyclic neutropenia, Respiratory tract infection, Perianal a...	ORPHA:2686
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Skeletal muscle atrophy, Abnormal atrioventricular conduction, Respiratory insufficiency due to m...	ORPHA:329336
Emanuel Syndrome	Congenital diaphragmatic hernia, Atrial septal defect, Micropenis, Joint contracture, Cryptorchid...	OMIM:609029
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc...	OMIM:601005
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob...	OMIM:133180
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Ventricular septal defect, Short stature, Situs inversus totalis, Thiamine-...	OMIM:249270
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Inguinal hernia, Ventricular septal defect, Diastasis recti, Kyphoscol...	OMIM:608149
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Hepatic failure, Growth delay, Stea...	ORPHA:75233
Eosinophilic Gastroenteritis	Eosinophilia, Edema, Allergic rhinitis, Leukocytosis, Asthma, Atopic dermatitis, Weight loss, Hem...	ORPHA:2070
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Recurrent skin infections, Lymphoproliferative disorder, Secundum at...	OMIM:614868
Familial Colorectal Cancer Type X	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Renal neoplasm,...	ORPHA:440437
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Short stature, Lipodystr...	OMIM:612526
Mucopolysaccharidosis, Type X	Beaking of vertebral bodies, Aortic regurgitation, Thickened aortic valve cusp, Hyperlordosis, Di...	OMIM:619698
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Alström Syndrome	Respiratory distress, Thoracic scoliosis, Urinary incontinence, Decreased response to growth horm...	ORPHA:64
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormality of the pancreas, Abnormality of the spleen, Abnormality ...	ORPHA:543
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Short neck, Secundum atrial septal defect, Low anterior hairline, Hepato...	OMIM:608779
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Scoliosis, Weakness of faci...	OMIM:201470
Endocardial Fibroelastosis	Hypoplasia of penis, Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restri...	ORPHA:2022
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Delayed ep...	OMIM:600081
Omenn Syndrome	Hepatomegaly, Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thromboc...	OMIM:603554
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Edema, Pulmonary edema	OMIM:178400
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ...	OMIM:611890
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Elevated hepatic transaminase, Portal hypertensio...	ORPHA:64743
Takenouchi-Kosaki Syndrome	Overlapping toe, Proximal placement of thumb, Tapered finger, Increased mean platelet volume, Pul...	OMIM:616737
Congenital Myopathy 21 With Early Respiratory Failure	Inguinal hernia, Spinal rigidity, Dyspnea, Lipoid pneumonia, EMG: myopathic abnormalities, Respir...	OMIM:620326
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy...	OMIM:616198
Congenital Myopathy 24	Scapular winging, Reduced vital capacity, Facial palsy, First degree atrioventricular block, Card...	OMIM:617336
Congenital Heart Block	Pericardial effusion, Patent foramen ovale, Pallor, Endocardial fibroelastosis	ORPHA:60041
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatitis, Eczema, A...	OMIM:616100
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Dyspnea, Ragged-red musc...	OMIM:615084
Meckel Syndrome, Type 6	Absent gallbladder, Bilobed right lung, Renal cyst, Horseshoe kidney, Cystic liver disease, Bile ...	OMIM:612284
Borjeson-Forssman-Lehmann Syndrome	Short stature, Kyphosis, Cryptorchidism, Obesity, Scoliosis, Delayed puberty, Micropenis, Scheuer...	OMIM:301900
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Apnea, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level, Failur...	OMIM:210200
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Petechiae, Chilblains, Short stature, Splenomegaly, ...	OMIM:225750
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Inguinal hernia, Severe short stature, Hyperlordosis, Hypoplasia of the odontoid process, Platysp...	OMIM:184250
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Short stature, Abnormal hair morphology, Weight loss, Neoplasm of the skin, ...	ORPHA:317
Systemic Lupus Erythematosus 17	Alopecia, Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Malar rash, Leukopen...	OMIM:301080
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Bipolar affective disorder, Short stature, Kyphosis, Obesity, Depression, Scoliosis	ORPHA:276630
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Curly eyelashes, Short neck, Pericardial effusion,...	OMIM:239850
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Short neck, Knee osteoarthritis, T...	ORPHA:93284
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Hyperlordo...	ORPHA:268
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Failure to thrive, Cycl...	OMIM:302060
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Polyhydramnios, Abnormality of the pancreas, Abnormal liver parench...	ORPHA:3032
Developmental And Epileptic Encephalopathy 41	Nephrocalcinosis, Lethargy, Flexion contracture, Kyphoscoliosis	OMIM:617105
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Short stature, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity...	OMIM:618443
Agel Amyloidosis	Proteinuria, Facial palsy, Edema, Respiratory tract infection, Xerostomia, Stage 5 chronic kidney...	ORPHA:85448
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Pallor, Atrial septal defect, Microphthalmia, ...	OMIM:609053
Dyskeratosis Congenita, Autosomal Dominant 2	Urethral stricture, Pancytopenia, Aplastic anemia, Short stature, Dilated cardiomyopathy, Prematu...	OMIM:613989
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy,...	ORPHA:91130
Magel2-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Short stature, Kyphosis, Cryptorchidi...	ORPHA:398069
Thymic Carcinoma	Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Dyspnea, Weight loss...	ORPHA:99868
Acrocapitofemoral Dysplasia	Short stature, Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Adult-Onset Distal Myopathy Due To Vcp Mutation	Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Reduced vital cap...	ORPHA:329478
Developmental And Epileptic Encephalopathy 35	Cardiomyopathy, Intrauterine growth retardation	OMIM:616647
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, ...	OMIM:618484
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Celiac Disease, Susceptibility To, 1	Elevated hepatic transaminase, Macrocytic anemia, Alopecia, Short stature, Eczema, Postnatal grow...	OMIM:212750
Proteasome-Associated Autoinflammatory Syndrome 1	Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Adipose tissue loss, Flexion contractur...	OMIM:256040
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Kyphosis, Disproportio...	OMIM:313400
Congenital Generalized Lipodystrophy	Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Congestive heart ...	ORPHA:528
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Short stature, Pneumonia, Decreased response to growth hormone stimulation test, Enter...	OMIM:307200
Bethlem Myopathy	Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ...	ORPHA:610
Schwartz-Jampel Syndrome, Type 1	Skeletal muscle atrophy, Cervical kyphosis, Short neck, Quadriceps muscle weakness, Wrist flexion...	OMIM:255800
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Short stature, Disproportionate short-limb short stature	ORPHA:156728
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm...	ORPHA:562639
Joubert Syndrome 1	Central apnea, Episodic tachypnea, Highly arched eyebrow, Renal cyst, Macroglossia, Hepatic fibro...	OMIM:213300
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma	OMIM:619437
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Short stature, Hyperlordosis, Central diaphragm...	OMIM:617450
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal...	OMIM:612999
Benign Recurrent Intrahepatic Cholestasis	Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ...	ORPHA:65682
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Nonimmune hydrops fetalis, Cardiac arrest, Cardio...	OMIM:618052
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Pediatric-Onset Graves Disease	Episcleritis, Hepatomegaly, Elevated hepatic transaminase, Atrial fibrillation, Keratitis, Spleno...	ORPHA:525731
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Myocardial infarction, Neoplasm of the thymus, Pituitary ...	ORPHA:99889
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Familial Hemophagocytic Lymphohistiocytosis	Colitis, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculopapular exanthema,...	ORPHA:540
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Respiratory insufficiency, ...	OMIM:615352
Riddle Syndrome	Conjunctival telangiectasia, Generalized lymphadenopathy, Short stature, Pneumonia, Bronchitis, I...	ORPHA:420741
Free Sialic Acid Storage Disease	Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Proteinuria, Spleno...	ORPHA:834
Isolated Thyroid-Stimulating Hormone Deficiency	Facial edema, Pituitary hypothyroidism, Depression, Growth delay, Macroglossia, Umbilical hernia,...	ORPHA:90674
Mucopolysaccharidosis Type 3	Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Atrioventricular block, Abnormal form ...	ORPHA:581
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Pneumo...	ORPHA:486
Propionic Acidemia	Hepatomegaly, Cardiomyopathy, Organic aciduria, Propionyl-CoA carboxylase deficiency, Arrhythmia	ORPHA:35
Hereditary Central Diabetes Insipidus	Growth delay, Lethargy	ORPHA:30925
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Hepatosplenomega...	ORPHA:2072
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Iridocyclitis, Flexion contracture, Knee osteoarthritis, Oligo...	ORPHA:85408
Fanconi Anemia, Complementation Group D2	Pancytopenia, Short stature, Chromosomal breakage induced by crosslinking agents, Patent ductus a...	OMIM:227646
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest	ORPHA:34587
Lynch Syndrome	Neoplasm of the pancreas, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma mu...	ORPHA:144
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated hepatic transaminase, Abnormality of hair texture, Hydrops fetalis, Growth delay, Cardio...	ORPHA:88618
Ataxia-Pancytopenia Syndrome	Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne...	ORPHA:2585
Muscular Hypertonia, Lethal	Respiratory distress, Umbilical hernia, Pneumonia	OMIM:254120
Fanconi Anemia, Complementation Group F	Sacral dimple, Short stature, Pneumonia, Polyhydramnios, Decreased response to growth hormone sti...	OMIM:603467
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Noonan Syndrome 6	Juvenile myelomonocytic leukemia, Curly hair, Short stature, Edema, Short neck, Polyhydramnios, L...	OMIM:613224
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Osteoarthritis, Abnormal form of the ve...	ORPHA:750
Atelosteogenesis Type Iii	Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Short tubular bones of the han...	ORPHA:56305
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Malar rash, Arthritis, Pleuritis, Abnormal renal physiology	OMIM:609939
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Depression, Brady...	ORPHA:254886
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles	OMIM:609500
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Severe B lymphocytopenia, Hepatic fibrosis, Cough, Sparse hair, Atrial septal defect, Intrauterin...	OMIM:620005
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Short...	OMIM:611881
Oculoskeletodental Syndrome	Short stature, Hyperlordosis, Nephrocalcinosis, Abnormality of the frontal hairline, Stroke, Thor...	ORPHA:557003
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Renal cyst, ...	ORPHA:699
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Lymphadenopathy, Macroglossia, ...	ORPHA:2221
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Petechiae...	ORPHA:83313
Spondylometaphyseal Dysplasia, Sedaghatian Type	Rhizomelia, Short neck, Myocarditis, Disproportionate short stature, Platyspondyly, Atrial septal...	OMIM:250220
Aapoaiv Amyloidosis	Back pain, Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Proteinuri...	ORPHA:439232
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H...	ORPHA:464321
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Stroke	OMIM:602248
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy, Apneic episodes in infancy, Generalized amyotrophy, 2-ethylhydracylic aciduria	OMIM:610006
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Lymphaden...	ORPHA:98848
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Ventricular septal defect, Hypospadias, Short neck, Kyphosis, Synophrys, Cr...	ORPHA:254346
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant	Respiratory insufficiency due to muscle weakness, Hypertrophic cardiomyopathy, Organic aciduria, ...	OMIM:617184
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair, Short stature, Hyperlordosis, Mitral valve prolapse, Scoliosis, Atrial septal defect,...	OMIM:300986
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Disproportionate sho...	OMIM:602557
Bethlem Myopathy 2	Scapular winging, Kyphosis, Flexion contracture, Myopathy, Atrophic scars, Scoliosis, Increased v...	OMIM:616471
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial polydactyly, ...	OMIM:616300
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Tachycardia, Skin rash, Dilated cardiomyopathy, Left ventricular hypertrophy, Letha...	OMIM:618321
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Skin rash, Failure to thrive in inf...	OMIM:610377
Combined Oxidative Phosphorylation Deficiency 20	Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respirato...	OMIM:615917
Ciliary Dyskinesia, Primary, 9	Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Cough, Bronchiectasis, Decrease...	OMIM:612444
Immunodeficiency 23	Hemolytic anemia, Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Fai...	OMIM:615816
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Diaphyseal dy...	OMIM:231095
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Failure to thrive in infancy, Microcytic anemia, Dilated...	OMIM:618805
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methylmalonyl-CoA mutase activity, Increased mean corpuscular volume, Lethargy, Megalob...	OMIM:277410
Refractory Celiac Disease	Normocytic anemia, Elevated hepatic transaminase, Macrocytic anemia, Inflammatory abnormality of ...	ORPHA:398063
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis, Flexion contracture	OMIM:613723
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Thoracomelic Dysplasia	Hyperlordosis, Disproportionate short-limb short stature, Low posterior hairline, Short neck	ORPHA:1803
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba...	OMIM:250250
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Elevated hepatic transaminase, Ketonuria, Short stature, Hyperlipidemia, Glycosuria, Lethargy, Fa...	ORPHA:2089
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome...	ORPHA:228308
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Noonan Syndrome 4	Abnormal bleeding, Curly hair, Ureteral duplication, Ventricular septal defect, Short stature, Po...	OMIM:610733
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Oculoskeletodental Syndrome	Hepatomegaly, Small for gestational age, Short stature, Splenomegaly, Cryptorchidism, Elbow flexi...	OMIM:618440
Distal Myotilinopathy	Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn...	ORPHA:98911
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Acne, Small for gestational age, Secundum atrial septal defect, Cryptorchid...	ORPHA:1439
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Sudden cardiac death...	ORPHA:99901
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Abnormal mitochondria in m...	ORPHA:550
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Failure to thrive in ...	OMIM:612852
Chromosome 10Q26 Deletion Syndrome	Omphalocele, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short stature, Sh...	OMIM:609625
Poikiloderma With Neutropenia	Skin rash, Short stature, Edema, Sparse eyebrow, Splenomegaly, Recurrent bronchopulmonary infecti...	OMIM:604173
Cutis Laxa, Autosomal Recessive, Type Iie	Inguinal hernia, Lumbar hyperlordosis, Short stature, Ovoid vertebral bodies, Highly arched eyebr...	OMIM:619451
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Childhood-o...	OMIM:184100
Myopathy, Myofibrillar, 1	Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Hypertrop...	OMIM:601419
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipi...	OMIM:220110
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi...	OMIM:613818
Autosomal Recessive Dopa-Responsive Dystonia	Bradykinesia, Lethargy	ORPHA:101150
Fetal Akinesia Deformation Sequence 4	Skeletal muscle atrophy, Polyhydramnios, Short neck, Kyphosis, Cryptorchidism, Camptodactyly, Neo...	OMIM:618393
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Fasciitis, Eosinophilia, Edema, Weight loss, Arthritis,...	ORPHA:3165
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Microcytic anemia, Pulmonary ...	ORPHA:774
Zimmermann-Laband Syndrome 3	Thick hair, Kyphosis, Patent ductus arteriosus, Flexion contracture, Low anterior hairline, Synop...	OMIM:618658
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Spinal rigidity, Respirator...	OMIM:254090
Immunodeficiency 13	Lymphopenia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiectasis, B...	OMIM:615518
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o...	ORPHA:399086
Chops Syndrome	Curly hair, Thick eyebrow, Ventricular septal defect, Thick hair, Short stature, Splenomegaly, Pa...	OMIM:616368
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Mild short stature, Lumbar hyperlordosis, Scoliosis	OMIM:618167
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-...	ORPHA:353327
Primary Biliary Cholangitis	Orthostatic hypotension, Portal hypertension, Jaundice, Hepatic failure, Hepatitis, Biliary cirrh...	ORPHA:186
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Mitochondrial Complex I Deficiency, Nuclear Type 22	Intrauterine growth retardation, Hypertrophic cardiomyopathy, Respiratory insufficiency	OMIM:618243
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis, Short stature	OMIM:609325
Mulibrey Nanism	Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation	ORPHA:2576
Medulloblastoma	Back pain, Elevated hepatic transaminase, Cerebellar hemorrhage, Medulloblastoma, Spinal cord tum...	ORPHA:616
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Tachycardia, Pancreatitis, Jaundice, Elevated circulat...	ORPHA:521219
Myotonia Permanens	Short stature, Hyperlordosis, Dyspnea, Asthma, Generalized muscle hypertrophy, Skeletal muscle hy...	ORPHA:99735
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Pneumonia, Splenomegaly, Lymphadenopathy, Amelogenesis imperfecta...	ORPHA:169090
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Increased mean platelet volume, Avascular necrosis of the capital femoral e...	OMIM:222470
Meckel Syndrome, Type 2	Omphalocele, Intrauterine growth retardation, Bile duct proliferation, Renal cyst	OMIM:603194
Acquired Generalized Lipodystrophy	Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Proteinuria, Astrocytoma, Hypert...	ORPHA:79086
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-r...	OMIM:258450
Fucosidosis	Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gall...	ORPHA:349
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Short stature, Splenomegaly, Chronic kidney disease, Obe...	OMIM:615630
Cdkl5-Deficiency Disorder	Kyphosis, Synophrys, Abnormal respiratory system physiology, Growth delay, Scoliosis	ORPHA:505652
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300554
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Abnormal bleedi...	ORPHA:79329
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Short neck, Kyphosis, Spinal rigidity, Flexion con...	ORPHA:75840
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Edema, Splenomegaly, Weight loss, Panniculitis, Inflammatory abnormality of the eye	ORPHA:33577
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Short stature, Abnormal dental enamel morphology, Hyperlordosis,...	ORPHA:582
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Shagreen patch, Severe short stature, Scoliosis, Hyperlordosis	ORPHA:2511
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Hypert...	OMIM:615381
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Reduced vital capacity, Centrally nucleated skel...	OMIM:608358
Duchenne Muscular Dystrophy	Skeletal muscle atrophy, Flexion contracture, Respiratory insufficiency, Calf muscle hypertrophy,...	ORPHA:98896
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Cornelia De Lange Syndrome 2	Thick eyebrow, Short stature, Highly arched eyebrow, Short neck, Postnatal growth retardation, Sy...	OMIM:300590
Hallermann-Streiff Syndrome	Recurrent respiratory infections, Sparse scalp hair, Sparse eyelashes, Small for gestational age,...	OMIM:234100
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edem...	ORPHA:904
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Renal insufficiency, Ep...	ORPHA:79430
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoim...	ORPHA:331206
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Increased adipose tissue, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m...	ORPHA:1349
Aicardi-Goutières Syndrome	Myositis, Multiple joint contractures, Cardiomegaly, Micropenis, Short stature, Chilblains, Rayna...	ORPHA:51
Cardiomyopathy, Familial Hypertrophic, 16	Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund...	OMIM:613838
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Short stature, Kyphosis, Decreased body weight	OMIM:618392
Lichen Planopilaris	Neoplasm of the oral cavity, Alopecia, Hepatitis	ORPHA:525
Familial Pancreatic Carcinoma	Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Extrahepatic chole...	ORPHA:1333
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Metaphyseal sclerosis, Thrombocytopenia, Metaphyseal chondr...	OMIM:260400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Recurrent skin infections, Asthma, Recurrent upper respiratory tract infections, Recurrent pneumo...	OMIM:619752
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Decreased platelet gl...	ORPHA:274
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmoni...	OMIM:619433
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Lymphocytosis	OMIM:606445
15Q24 Microdeletion Syndrome	Small for gestational age, Hypospadias, Congenital diaphragmatic hernia, Decreased response to gr...	ORPHA:94065
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Thoracic scoliosis, Cardio...	OMIM:617022
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Portal hype...	ORPHA:59303
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat...	OMIM:617713
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis	OMIM:618323
Infantile Refsum Disease	Hepatomegaly, Short stature, Facial palsy, Cardiomyopathy, Arrhythmia, Failure to thrive	ORPHA:772
Tangier Disease	Hepatomegaly, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Facial diplegia, Distal ...	OMIM:205400
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Sh...	ORPHA:457395
Ovarian Hyperstimulation Syndrome	Pulmonary edema, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gon...	ORPHA:64739
Trichorhinophalangeal Syndrome, Type I	Recurrent respiratory infections, Scapular winging, Slow-growing hair, Short stature, Hyperlordos...	OMIM:190350
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi...	OMIM:263300
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Medium chain dicarboxylic aciduria,...	OMIM:201450
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Chronic kidney disease, Respiratory insufficiency, Renal tubular acidosis, Cardiom...	ORPHA:324525
Lysinuric Protein Intolerance	Skeletal muscle atrophy, Hepatomegaly, Short stature, Thrombocytopenia, Splenomegaly, Oroticacidu...	OMIM:222700
Mucopolysaccharidosis Type 2, Severe Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217085
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Lymphoproliferative disorder, S...	ORPHA:90033
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Low back pain, Soft tissue neoplasm, Vaginal neoplasm, Pelvic mas...	ORPHA:2126
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress, Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive	OMIM:612075
Mucopolysaccharidosis, Type Iiid	Thoracic scoliosis, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypoplastic vertebral b...	OMIM:252940
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Infancy onset short-trunk short stature, Short stature, Thoraco...	ORPHA:1159
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Edema, Splenomegaly, Leukocytosis, Retrobulbar optic ne...	ORPHA:1451
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Tachypnea, Ketonuria	OMIM:245050
Idiopathic Intracranial Hypertension	Back pain, Lethargy, Obesity, Depression	ORPHA:238624
3C Syndrome	Hypoplasia of penis, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology, Atrial septa...	ORPHA:7
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypospadias, Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Microp...	OMIM:618815
Grfoma	Neoplasm of the thymus, Pheochromocytoma, Hepatomegaly, Intermittent jaundice, Increased circulat...	ORPHA:97261
Sialidosis Type 1	Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Short stature, Splenom...	ORPHA:812
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Short stature, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Camptod...	OMIM:114300
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Severe short stature, Thoracolumbar scoliosis, Kyphosis, Respiratory insufficien...	OMIM:313420
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due to muscle weakness, S...	ORPHA:436271
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hepatomegaly, Ascites, Anemia, E...	OMIM:276700
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Congestive heart failure, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Short stature, Thoracolumbar scoliosis, Short neck, Flexion contracture, Low posterior hairline, ...	OMIM:616549
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Methylmal...	OMIM:275350
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er...	ORPHA:447
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Bleeding Disorder, Platelet-Type, 17	Myelofibrosis, Gastrointestinal hemorrhage, Increased RBC distribution width, Epistaxis, Macrothr...	OMIM:187900
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asple...	ORPHA:210122
Refsum Disease	Skeletal muscle atrophy, Renal insufficiency, Heart block, Splenomegaly, Respiratory insufficienc...	ORPHA:773
Mucopolysaccharidosis Type 2, Attenuated Form	Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasopharyngeal adenoi...	ORPHA:217093
Joubert Syndrome 2	Central apnea, Renal insufficiency, Episodic tachypnea, Renal cyst, Nephronophthisis, Failure to ...	OMIM:608091
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Skin rash, Edema...	OMIM:603553
Malignant Peritoneal Mesothelioma	Dyspnea, Peritonitis, Pedal edema, Weight loss, Neoplasm, Ascites	ORPHA:168811
Whim Syndrome	Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas...	ORPHA:51636
Tyrosinemia Type 1	Acute hepatic failure, Hepatomegaly, Splenomegaly, Generalized aminoaciduria, Hepatocellular carc...	ORPHA:882
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c...	OMIM:619658
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, A...	ORPHA:1454
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormal intrahepatic bile duct morphology, Intracranial hemorrhage, Premature graying of hair, P...	ORPHA:363618
Semilobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Flexion cont...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Flexion cont...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Flexion cont...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Short stature, Decreased response to growth hormone stimulation test, Flexion cont...	ORPHA:93924
B4Galt1-Cdg	Abnormal bleeding, Hepatomegaly, Inflammatory abnormality of the skin, Elevated hepatic transamin...	ORPHA:79332
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Micrognathia, Flexion contracture, Tibial bowing, Hypoplastic iliac wing, Small proximal tibial e...	ORPHA:96334
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Distal 22Q11.2 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Inguinal hernia, Ventricular septal defec...	ORPHA:261330
Adams-Oliver Syndrome 5	Inguinal hernia, Portal vein thrombosis, Hypersplenism, Splenomegaly, Right atrial enlargement, C...	OMIM:616028
Mitochondrial Complex I Deficiency, Nuclear Type 9	Neonatal death, Lethargy	OMIM:618232
Vipoma	Dehydration, Hepatomegaly, Follicular thyroid carcinoma, Intermittent jaundice, Hematochezia, Neo...	ORPHA:97282
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Short stature, Hirsutism, Scoliosis	OMIM:300434
Cholesteryl Ester Storage Disease	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Arteriosclerosis, Cirrhosis, Hypercho...	ORPHA:75234
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ...	OMIM:619705
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis, Depression	OMIM:619467
Multicentric Reticulohistiocytosis	Arthritis, Cachexia, Histiocytosis	ORPHA:139436
Medullary Thyroid Carcinoma	Neoplasm of the skeletal system, Primary hyperparathyroidism, Weight loss, Neoplasm of the lung, ...	ORPHA:1332
Chronic Hiccup	Depression, Abnormality of the diaphragm, Dehydration, Weight loss	ORPHA:396
Diamond-Blackfan Anemia 6	Macrocytic anemia, Micrognathia, Short thumb, Persistence of hemoglobin F, Mitral regurgitation, ...	OMIM:612561
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys...	ORPHA:1677
Chédiak-Higashi Syndrome	Edema, Large clumps of pigment irregularly distributed along hair shaft, Vacuolated lymphocytes, ...	ORPHA:167
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Nephropathy...	ORPHA:324
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Abnormal renal tubular reso...	ORPHA:73224
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Neonatal respiratory distress, Myoglobinuria, Rhabdomyolysis, Red-brown urine, Stag...	ORPHA:157
Granulomatosis With Polyangiitis	Episcleritis, Sinusitis, Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, ...	OMIM:608710
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ...	OMIM:619051
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Short stature, Flexion contracture, Mitral regurgitation, Inclusion body fibromatosis, ...	ORPHA:88630
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis, A...	OMIM:259730
O'Donnell-Luria-Rodan Syndrome	Cryptorchidism, Kyphosis, Prolonged neonatal jaundice	OMIM:618512
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hyperlordosis, Synophrys, Obesity, Hepatosplenomegaly, Umbilical hernia, Cholecysti...	OMIM:301066
Thanatophoric Dysplasia	Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Pa...	ORPHA:2655
Immunodeficiency 60 And Autoimmunity	Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative coliti...	OMIM:618394
Leukoencephalopathy With Vanishing White Matter 1	Lethargy	OMIM:603896
Gaisböck Syndrome	Myocardial infarction, Nephrocalcinosis, Cholecystitis, Overweight, Increased mean corpuscular he...	ORPHA:90041
Bile Acid Synthesis Defect, Congenital, 5	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de...	OMIM:616278
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Generalized limb muscle atrophy, Myopathy, Scoliosis, Delayed puberty, Distichiasis, An...	ORPHA:2598
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy	OMIM:616277
Glucagonoma	Hepatomegaly, Acanthocytosis, Intermittent jaundice, Depression, Increased circulating cortisol l...	ORPHA:97280
Riboflavin Deficiency	Lethargy	OMIM:615026
Hereditary Sensory And Autonomic Neuropathy Type 2	Dystrophic fingernails, Dystrophic toenail, Hyperlordosis	ORPHA:970
Familial Cold Autoinflammatory Syndrome 2	Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap...	OMIM:611762
Bohring-Opitz Syndrome	Recurrent respiratory infections, Facial hypotonia, Apnea, Nephroblastoma, Cardiomegaly, Short st...	ORPHA:97297
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, Scoliosis, Lower lim...	ORPHA:1177
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Flexion contracture, Scolio...	OMIM:619383
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Red...	ORPHA:370959
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Myoglobinuria, Rhabdomyolys...	ORPHA:228305
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ...	ORPHA:298
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Alopecia, Hypertriglyceridemia, Short stature, Micro...	ORPHA:98907
Thyroid Dyshormonogenesis 1	Growth delay, Lethargy	OMIM:274400
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea, Kyphosis, Patent ductus arteriosus, Cryptorchidism, Frontal upsweep of hair, Scoliosis, Hy...	OMIM:619797
Gaucher Disease Type 3	Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Recurren...	ORPHA:77261
Sea-Blue Histiocytosis	Abnormal bleeding, Hepatomegaly, Petechiae, Edema, Splenomegaly, Mediastinal lymphadenopathy, Sea...	ORPHA:158029
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Pancytopenia, Pneumonia, Hepatosplenomegaly, Oligosacchariduria, Macrogloss...	ORPHA:309288
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Digeorge Syndrome	Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hepatic steatosis, ...	OMIM:188400
Ovarian Dysgenesis 2	Streak ovary, Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Delayed puberty, Hirsutism	OMIM:300510
Japanese Encephalitis	Respiratory distress, Skeletal muscle atrophy, Irregular respiration, Neutrophilia, Facial palsy,...	ORPHA:79139
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Respiratory tract infection, Pustule, Gr...	ORPHA:68
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Short stature, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies,...	ORPHA:3218
Complete Androgen Insensitivity Syndrome	Abnormal uterine cervix morphology, Testicular neoplasm, Sparse axillary hair, Bilateral cryptorc...	ORPHA:99429
Muscular Dystrophy, Becker Type	Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia	OMIM:300376
Occipital Horn Syndrome	Inguinal hernia, Femoral hernia, Thick hair, Scarring, Hiatus hernia, Venous insufficiency, Kypho...	ORPHA:198
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Vasc...	OMIM:216360
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Atrial septal defect, Subcutaneous neurofibroma, Patent foramen ovale, Spinal neurofib...	ORPHA:363700
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Autoimmune hemolytic anemia, Laryngeal papilloma, Splenomegaly, Hypereosinophilia, ...	OMIM:617388
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Hepatomegaly, Short stature, Anisocytosis, Anemia of inadequate production, Sple...	OMIM:615631
Secondary Intestinal Lymphangiectasia	Intestinal lymphedema, B-cell lymphoma, Edema, Lymphedema, Right ventricular failure, Chylous asc...	ORPHA:90363
22Q11.2 Deletion Syndrome	Polyhydramnios, Short neck, Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia o...	ORPHA:567
Alg3-Cdg	Abnormal circulating enzyme concentration or activity, Lipodystrophy, Coarctation of the descendi...	ORPHA:79321
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time, Short stature, Cryptorchidism, Abnormality of the lymphatic system, Pulm...	ORPHA:638
Mitochondrial Complex I Deficiency, Nuclear Type 14	Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy, Apnea	OMIM:618236
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac...	OMIM:611588
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Short stature, Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segmenta...	ORPHA:1323
Pachydermoperiostosis	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal hair quantity, Osteomyelitis, Acne, Edema, Se...	ORPHA:2796
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Gingival bleeding, He...	OMIM:618549
Maple Syrup Urine Disease	Lethargy, Increased level of hippuric acid in urine, Pancreatitis, Cerebral edema	OMIM:248600
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Limite...	OMIM:258315
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Large vessel vasculitis, Pedal edema, Hashimoto thyroiditis, Psoriasiform derm...	ORPHA:49041
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Jaundi...	OMIM:251290
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Vici Syndrome	Lymphopenia, Recurrent respiratory infections, Hypopigmentation of hair, Failure to thrive, Albin...	OMIM:242840
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Distal Deletion 10Q	Scapular winging, Lumbar hyperlordosis, Failure to thrive, Short stature, Postnatal growth retard...	ORPHA:96148
Neurofibroma	Facial neoplasm, Multiple intestinal neurofibromatosis, Intestinal bleeding, Palmar neurofibroma,...	ORPHA:252183
Neonatal Alloimmune Neutropenia	Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies	ORPHA:464370
Alexander Disease	Facial palsy, Sudden cardiac death, Hyperlordosis, Short neck, Kyphosis, Respiratory insufficienc...	ORPHA:58
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac...	OMIM:115210
Noonan Syndrome 2	Curly hair, Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Polyhydr...	OMIM:605275
Three M Syndrome 3	Small for gestational age, Short stature, Hyperlordosis, Short neck, Increased vertebral height, ...	OMIM:614205
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, ST segment ele...	ORPHA:263297
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Skin rash, Autoimmun...	ORPHA:100026
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Hepatitis, Hypotension, Prolonged neonatal jaundice	ORPHA:199296
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Brittle hair, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, ...	OMIM:616084
Combined Oxidative Phosphorylation Deficiency 38	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive, Respiratory insuf...	OMIM:618378
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypo...	OMIM:616589
Stiff-Person Syndrome	Tachycardia, Lumbar hyperlordosis, Asymmetric limb muscle stiffness, Depression, Proximal limb mu...	OMIM:184850
Combined Oxidative Phosphorylation Deficiency 42	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver ...	OMIM:618839
Intellectual Developmental Disorder, Autosomal Dominant 26	Inguinal hernia, Small for gestational age, Short stature, Highly arched eyebrow, Kyphosis, Umbil...	OMIM:615834
Sim1-Related Prader-Willi-Like Syndrome	Recurrent respiratory infections, Hypopigmentation of hair, Cryptorchidism, Xerostomia, Obesity, ...	ORPHA:398079
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa...	ORPHA:439
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Hypospadias, Kyphosis, Aplasia/Hypoplasia of the lungs, Scolios...	ORPHA:1548
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia, Bicuspid aortic valve, Short stature, Polyhydramnios, Short nec...	OMIM:613563
Brachyolmia Type 1, Hobaek Type	Back pain, Short neck, Kyphosis, Disproportionate short-trunk short stature, Squared-off platyspo...	OMIM:271530
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Hypertriglyceridemia, Edema, Pulmonary emb...	ORPHA:567548
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Nonimmune hydrops fetalis, Red...	OMIM:266200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Reduced vital capacity, Short neck, Kyphosis, Cryptorchidism, Flexion contracture, Respiratory in...	ORPHA:178148
3M Syndrome	Scapular winging, Hypospadias, Short stature, Abnormal cerebral vascular morphology, Hyperlordosi...	ORPHA:2616
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase...	OMIM:613157
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ...	OMIM:617228
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Hypopigmentation of hair, Splenomegaly, Jaundice, Hyperlipidemia, Lym...	ORPHA:79477
Perry Syndrome	Central hypoventilation, Depression, Weight loss, Apathy, Hypotension	ORPHA:178509
Dyskeratosis Congenita	Abnormality of neutrophils, White hair, Premature graying of hair, Neoplasm, Periodontitis, Spars...	ORPHA:1775
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Flexion contracture, Premat...	ORPHA:90324
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral regurgitation, Scoliosis,...	ORPHA:313892
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Pneumonia, Short stature, Cryptorchidism, Heart murmu...	ORPHA:1867
Hennekam Syndrome	Benign neoplasm of the central nervous system, Recurrent respiratory infections, Mild postnatal g...	ORPHA:2136
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Tricuspid regurgitation, Short stature, Eczema, Myelodysplasia, Thr...	ORPHA:508542
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Hydrocele testis, Anteriorly displaced urethral meatus, Sever...	OMIM:266810
Abetalipoproteinemia	Abnormal bleeding, Reticulocytosis, Hepatomegaly, Failure to thrive, Elevated hepatic transaminas...	ORPHA:14
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Vertebral fusion, Unilateral renal agenesis, Ectopic kidney, Abnormal s...	ORPHA:3109
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ketonuria, Dilated ...	OMIM:619167
Insulin-Resistance Syndrome Type B	Osteoarthritis, Increased body weight, Leukopenia, Abnormal salivary gland morphology, Nephritis,...	ORPHA:2298
Myofibrillar Myopathy 10	Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Increased QRS voltage, Knee flexi...	OMIM:619040
Neuropathy, Congenital, With Arthrogryposis Multiplex	Arthrogryposis multiplex congenita, Hyperlordosis	OMIM:162370
Arthrogryposis, Distal, Type 5D	Short stature, Highly arched eyebrow, Hyperlordosis, Short neck, Elbow flexion contracture, Hypop...	OMIM:615065
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive...	OMIM:616866
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Cardiofaciocutaneous Syndrome 3	Curly hair, Ventricular septal defect, Short stature, Short neck, Pulmonic stenosis, Scoliosis, A...	OMIM:615279
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Short stature,...	OMIM:616007
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Overweight, Intr...	ORPHA:69663
Maternally-Inherited Diabetes And Deafness	Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophi...	ORPHA:225
Macrocephaly/Autism Syndrome	Hepatomegaly, Dilation of Virchow-Robin spaces, Penile freckling, Large for gestational age, Sple...	OMIM:605309
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Pulmonary cyst, Inguinal hernia, Large for gestational age, Kyphosis, Umbilical he...	OMIM:618272
Fgfr2-Related Bent Bone Dysplasia	Extramedullary hematopoiesis, Hirsutism, Hepatosplenomegaly	ORPHA:313855
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasi...	OMIM:235255
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Severe short stature, Incre...	ORPHA:93314
Reactive Arthritis	Aortic regurgitation, Pericarditis, Osteomyelitis, Abnormal pleura morphology, Pustule, Respirato...	ORPHA:29207
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Obesity, Cardiomegaly	ORPHA:88643
Trisomy 1Q	Anophthalmia, Ventricular septal defect	ORPHA:261344
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Conge...	ORPHA:94080
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Thrombocy...	OMIM:611126
Spondyloepimetaphyseal Dysplasia, Irapa Type	Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Disproportionate short-trunk short stat...	OMIM:271650
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Abnormal intervertebral disk morphology, Hypospadias, Camptodactyly of finger, C...	ORPHA:2311
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Short stature, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left ventri...	OMIM:252011
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Prolonged bleeding following procedure, Nephrocalcinosis, Inflammation of the large intestine, Pe...	ORPHA:79259
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth de...	OMIM:619510
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Tetrasomy 9P	Myositis, Short neck, Biliary atresia, Intrauterine growth retardation, Micropenis, Patent forame...	ORPHA:3310
Achondroplasia	Lumbar hyperlordosis, Rhizomelia, Kyphosis, Disproportionate short stature, Spinal canal stenosis...	ORPHA:15
Immunodeficiency 42	Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu...	OMIM:616622
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Thrombocytopenia, Cryptorchidism, Premature graying of hair,...	OMIM:620365
Short-Rib Thoracic Dysplasia 12	Edema, Short neck, Polyhydramnios, Neonatal death, Patent foramen ovale, Hepatomegaly, Hamartoma ...	OMIM:269860
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Skeletal muscle atrophy, Limb-girdle muscle weakness, Increased body weight, Hepatic fibrosis, He...	ORPHA:79240
Mitochondrial Complex I Deficiency, Nuclear Type 19	Hypertrophic cardiomyopathy, Respiratory insufficiency, Scoliosis	OMIM:618241
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Ventricular septal defect, Polyhydramnios, Short neck, Postnatal g...	ORPHA:1655
Thanatophoric Dysplasia Type 2	Short stature, Polyhydramnios, Kyphosis, Increased nuchal translucency, Patent ductus arteriosus,...	ORPHA:93274
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:608594
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Spo...	OMIM:214500
Congenital Myopathy 22A, Classic	Thoracic scoliosis, Polyhydramnios, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, ...	OMIM:620351
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Posterior Urethral Valve	Renal insufficiency, Urinary incontinence, Dysuria, Postnatal growth retardation, Urethral stenos...	ORPHA:93110
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Recurrent respiratory infections, Alopecia, Abnormal dental enamel morphology, Highly arched eyeb...	ORPHA:3253
Somatostatinoma	Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortical adenoma...	ORPHA:97283
Lymphatic Malformation 6	Genital edema, Short stature, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenom...	OMIM:616843
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Preaxial polydactyly, Hypoplastic pubic bone, Fibular hypopl...	OMIM:617925
Mcdonough Syndrome	Short stature, Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculatur...	ORPHA:2471
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Hypospadias, T...	OMIM:615471
Immunodeficiency 11B With Atopic Dermatitis	Pneumonia, Eosinophilia, Asthma, Atopic dermatitis, Bronchiectasis, Ulcerative colitis, Colonic e...	OMIM:617638
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Scoliosis,...	ORPHA:3353
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Argininosuccinic Aciduria	Hepatomegaly, Dry hair, Brittle hair, Elevated circulating aspartate aminotransferase concentrati...	OMIM:207900
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Acne, Skin rash, Abnormal cerebral ...	ORPHA:758
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, ...	OMIM:267700
Insulin Autoimmune Syndrome	Arthralgia/arthritis, Weight loss	ORPHA:411593
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Bilateral cryptorc...	OMIM:617796
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Short stature, Facial palsy, Hyperlordosis, Abnorma...	ORPHA:3068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat...	OMIM:613155
Central Neurocytoma	Lethargy, Depression	ORPHA:73256
Three M Syndrome 2	Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short stature, Severe short st...	OMIM:612921
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyper...	ORPHA:2232
Amyloidosis, Finnish Type	Renal insufficiency, Abnormal abdomen morphology, Cardiomyopathy, Nephrotic syndrome, Cardiac amy...	OMIM:105120
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Multiple pulmonary cysts, Hypertriglyceridemia, Ventricular septa...	OMIM:619418
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Lumbar hyperlordosis, Short stature, Flexion contracture, Recurrent pneumonia, Premature osteoart...	OMIM:215150
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Lymphedema, Telangiectasia, Generalized amyotrophy, Hyp...	ORPHA:79279
Noonan Syndrome 14	Aortic regurgitation, Curly hair, Scapular winging, Short stature, Polyhydramnios, Short neck, Sp...	OMIM:619745
Simpson-Golabi-Behmel Syndrome	Bundle branch block, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia, ...	ORPHA:373
Acquired Methemoglobinemia	Tachycardia, Syncope, Palpitations, Arrhythmia, Methemoglobinemia	ORPHA:464453
Sandhoff Disease	Skeletal muscle atrophy, Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activ...	OMIM:268800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Primary Familial Polycythemia	Epistaxis, Polycythemia, Abnormal hemoglobin	ORPHA:90042
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Generalized edema, Edema, Pulmonary embolism, Growth delay, Iron deficiency anemia,...	OMIM:226300
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:306400
Distal Triplication 15Q	Large for gestational age, Kyphosis, Patent ductus arteriosus, Flexion contracture, Hypoplastic a...	ORPHA:314588
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Carnosinuria	OMIM:309930
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati...	ORPHA:99103
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Thick hair, Kyphosis, Synophrys, Low posterior hairline, Truncal obesity, Scoliosis, Thick eyebrow	ORPHA:2429
Bannayan-Riley-Ruvalcaba Syndrome	Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Lymphedema, Intracranial hemorrhage, Ham...	ORPHA:109
Huntington Disease-Like 2	Depression, Bradykinesia, Weight loss, Apathy, Inertia	OMIM:606438
Myelofibrosis	Pallor, Purpura	OMIM:254450
Osteopetrosis, Autosomal Recessive 1	Sandwich appearance of vertebral bodies, Hepatomegaly, Pancytopenia, Osteomyelitis, Facial palsy,...	OMIM:259700
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Urethral stricture, Edema, Dehydration, Gastrointestinal inflammation, Rena...	ORPHA:79404
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Premature osteoart...	OMIM:130060
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Polyhydramnio...	OMIM:618291
Mucopolysaccharidosis Type 2	Irregularity of vertebral bodies, Abnormal tricuspid valve morphology, Hepatomegaly, Abnormal mit...	ORPHA:580
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Increased circulating lactate dehydrogenase concentration, Eczem...	OMIM:617780
Trichothiodystrophy	Congenital exfoliative erythroderma, Multiple joint contractures, Brittle hair, Squamous cell car...	ORPHA:33364
Essential Thrombocythemia	Prolonged bleeding time, Transient ischemic attack, Myocardial infarction, Abnormal cerebral vasc...	ORPHA:3318
Leydig Cell Hypoplasia	Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp...	ORPHA:755
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Failure to thrive, Sinusitis, Short stature, Pneumonia, Bronchiectasis, Macroglossia, T lymphocyt...	OMIM:242860
Ataxia-Telangiectasia	Conjunctival telangiectasia, Failure to thrive, Sinusitis, Short stature, Abnormal hair morpholog...	OMIM:208900
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Pituitary dwarfism, Decreased response to growth hormone stimulation...	ORPHA:226307
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Combined Oxidative Phosphorylation Deficiency 57	Apnea, Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, ...	OMIM:620167
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Recurrent sinopulmonary infections, Decreased proportion of CD4+CD25+ regulatory T cells, Follicu...	OMIM:619846
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Arthritis, Lymphopenia, Eosinophilia, Abnormal pleura morphology	ORPHA:2582
Lateral Meningocele Syndrome	Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, ...	ORPHA:2789
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Mitochondrial Complex I Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Failure to thrive	OMIM:618229
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Short neck, Low anterior hairline, Neoplasm, Hemolytic anemia, Short sta...	ORPHA:647
Immunodeficiency 92	Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Decreased proportion of class-...	OMIM:619652
Fanconi Anemia	Leukopenia, Abnormality of the liver, Neoplasm, Atrial septal defect, Hypospadias, Short stature,...	ORPHA:84
Chronic Thromboembolic Pulmonary Hypertension	Cardiac shunt, Edema, Pulmonary embolism, Right ventricular dilatation, Abnormal left ventricular...	ORPHA:70591
Ciliary Dyskinesia, Primary, 1	Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiectasis, Immotile cilia, Chronic...	OMIM:244400
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri...	OMIM:608758
Gaucher Disease, Type Ii	Hepatomegaly, Double aortic arch, Apnea, Splenomegaly, Anemia, Stridor, Cough, Bronchiolitis, Fai...	OMIM:230900
Trichohepatoneurodevelopmental Syndrome	Polyhydramnios, Synophrys, Coarse hair, Thoracic hypertrichosis, Hepatomegaly, Patent ductus arte...	OMIM:618268
Metatropic Dysplasia	Relatively short spine, Severe short stature, Kyphoscoliosis, Hypoplasia of the odontoid process,...	OMIM:156530
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi...	OMIM:619377
Niemann-Pick Disease, Type C2	Hepatomegaly, Neonatal respiratory distress, CNS foam cells, Bone-marrow foam cells, Polyhydramni...	OMIM:607625
Noonan Syndrome With Multiple Lentigines	Bundle branch block, Myocardial infarction, Atrioventricular canal defect, Spina bifida occulta, ...	ORPHA:500
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Brittle hair, Polyhydramnios, Sparse eyebrow, Micropenis, Hydrocele testis, Hypocho...	OMIM:618810
Naxos Disease	Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy...	OMIM:601214
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Gastrointestinal hemorrhage, Elevated circulating growth ...	ORPHA:97278
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Dyspnea, Achilles tendon contracture, Ragged-red muscle fibers, Obesity,...	OMIM:615418
Helsmoortel-Van Der Aa Syndrome	Recurrent respiratory infections, Short stature, Facial palsy, Decreased response to growth hormo...	OMIM:615873
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Skeletal muscle atrophy, Apnea, Ragged-red muscle fibers, Flexion contractu...	ORPHA:17
Anauxetic Dysplasia 1	Hip contracture, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Short neck, Elbow flexio...	OMIM:607095
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Abdominal mass, Ganglioneuroblastoma, Elevated urinary dopa...	OMIM:256700
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hepatomegaly, Reticulocytosis, Small for gestational age, Mild postnatal growth...	OMIM:224120
Acute Disseminated Encephalomyelitis	Viral hepatitis, Respiratory failure requiring assisted ventilation, Herpes simplex encephalitis,...	ORPHA:83597
Leigh Syndrome	Skeletal muscle atrophy, Multiple joint contractures, Complex organic aciduria, Neutropenia, Fron...	ORPHA:506
Hajdu-Cheney Syndrome	Short neck, Synophrys, Low anterior hairline, Coarse hair, Periodontitis, Hernia, Generalized hir...	ORPHA:955
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Reticulocytosis, Macrocytic anemia, Pancytopenia, Tachycardia, Angular cheilit...	ORPHA:35858
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Constrictive pericarditis, Wrist flexion contracture, Congenital finger flexion contractures, Art...	OMIM:208250
Osteopetrosis, Autosomal Recessive 4	Reticulocytosis, Hepatomegaly, Petechiae, Facial palsy, Splenomegaly, Anemia, Growth delay, Scler...	OMIM:611490
Irida Syndrome	Pallor	ORPHA:209981
Hyperphenylalaninemia, Bh4-Deficient, B	Lethargy	OMIM:233910
Winchester Syndrome	Kyphosis, Hirsutism	OMIM:277950
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Short stature, Hyperlordosis, Hypoplasia of the odontoid proce...	OMIM:226980
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Pineal cyst, Cholecystitis, Hepatic s...	ORPHA:98908
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ...	ORPHA:766
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc...	OMIM:224100
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Congestive heart failure, Depression, Cardiomyopathy, 3-Methylglutaconic aciduria, ...	OMIM:619259
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Short stature, Splenomegaly, ...	OMIM:618641
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Acne, Short stature, Rhizomelia, Short neck, Kyphosis, Abnormal form of t...	ORPHA:3098
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Polyhydramnios, Large for ge...	ORPHA:116
Achondroplasia	Respiratory distress, Lumbar hyperlordosis, Rhizomelia, Polyhydramnios, Upper airway obstruction,...	OMIM:100800
Intestinal Dysmotility Syndrome	Failure to thrive, Polyhydramnios, Weight loss	OMIM:620045
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Zimmermann-Laband Syndrome 1	Aortic arch aneurysm, Hepatomegaly, Thick eyebrow, Thick hair, Highly arched eyebrow, Splenomegal...	OMIM:135500
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Proteinuria, Short stature, Dec...	OMIM:232220
Sialuria	Neuropathic spinal arthropathy, Hepatomegaly, Elevated hepatic transaminase, Upper airway obstruc...	ORPHA:3166
Noonan Syndrome 5	Curly hair, Short stature, Polyhydramnios, Short neck, Sparse eyebrow, Large for gestational age,...	OMIM:611553
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Pneumonia	ORPHA:85179
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Tricuspid regurgitation, Kyphoscoliosis, Cardiomegaly, Congestive heart failure, ...	ORPHA:324410
3Mc Syndrome	Highly arched eyebrow, Hyperlordosis, Bilateral cryptorchidism, Postnatal growth retardation, Sup...	ORPHA:293843
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Ischemic ...	OMIM:182410
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Short stature, Seborrheic dermatit...	OMIM:301072
Chronic Granulomatous Disease	Hepatomegaly, Recurrent respiratory infections, Liver abscess, Sinusitis, Eczema, Abnormality of ...	ORPHA:379
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonary embolism, Periana...	ORPHA:444490
Diastrophic Dysplasia	Recurrent respiratory infections, Camptodactyly of finger, Kyphosis, Cryptorchidism, Visceral ang...	ORPHA:628
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Protei...	ORPHA:1018
Biotinidase Deficiency	Respiratory distress, Alopecia, Skin rash, Apnea, Organic aciduria, Conjunctivitis, Lethargy, Lim...	ORPHA:79241
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Microcephalic Primordial Dwarfism, Montreal Type	Abnormal hair quantity, Severe short stature, Lipoatrophy, Kyphosis, Cryptorchidism, Low posterio...	ORPHA:2617
Pigmented Nodular Adrenocortical Disease, Primary, 2	Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Depression,...	OMIM:610475
Refsum Disease, Classic	Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa...	OMIM:266500
Combined Oxidative Phosphorylation Defect Type 23	Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject...	ORPHA:444013
Cockayne Syndrome Type 2	Anophthalmia	ORPHA:90322
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome	OMIM:607487
Hypothyroidism Due To Tsh Receptor Mutations	Edema, Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Lethargy, Thyroi...	ORPHA:90673
Myotonic Dystrophy 1	Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, P...	OMIM:160900
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Short stature, Hyperlordosis, Limb-girdle muscular d...	OMIM:615356
Riboflavin Transporter Deficiency	Skeletal muscle atrophy, Facial palsy, Cachexia, Respiratory insufficiency, Hypertension, Limb mu...	ORPHA:97229
Degcags Syndrome	Polyhydramnios, Synophrys, Bilateral renal hypoplasia, Low anterior hairline, Premature graying o...	OMIM:619488
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Facial palsy, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia	OMIM:615085
Naxos Disease	Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear...	ORPHA:34217
Prune1-Related Neurological Syndrome	Hypertrophic cardiomyopathy, Respiratory insufficiency, Scoliosis	ORPHA:544469
Citrullinemia, Classic	Hepatomegaly, Oroticaciduria, Stroke, Cirrhosis, Lethargy, Failure to thrive, Cerebral edema	OMIM:215700
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Micrognathia, Microcytic anemia, Short toe, Flexion contracture, Talipes equinovarus, HbH hemoglobin	ORPHA:98791
Cryptococcosis	Respiratory distress, Lymphoid leukemia, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary H...	ORPHA:1546
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Short stature, Polyhydramnios, Short neck, Absent ...	OMIM:115150
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Renal insufficiency, Proteinuria, Megaloblastic anemia, H...	OMIM:277400
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Exe...	OMIM:232800
Combined Oxidative Phosphorylation Deficiency 40	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Decreased liver function, Neonat...	OMIM:618835
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Micrognathia, Splenomegal...	ORPHA:3035
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Glutaric Acidemia Type 3	Sacral dimple, Ketonuria, Glutaric aciduria, Lethargy, Failure to thrive	ORPHA:35706
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital fibrosis of extraocular muscles, Kyphosis, Highly arched eyebrow	OMIM:609384
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Micrognathia	OMIM:300946
Gm1-Gangliosidosis, Type Iii	Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Decreased beta-galactosidase act...	OMIM:230650
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atroph...	ORPHA:2463
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Neonatal respiratory distress, Ketonuria, Renal hypoplasia, Hypertrophic cardiomyop...	OMIM:619053
Congenital Heart Defects And Skeletal Malformations Syndrome	Medial flaring of the eyebrow, Ventricular septal defect, Repeated pneumothoraces, Congenital dia...	OMIM:617602
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Fair hair, Prolonged blee...	OMIM:608233
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t...	OMIM:612098
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipo...	OMIM:269700
Orofaciodigital Syndrome Type 2	Apnea, Thick hair, Hamartoma of tongue, Short stature, Tachypnea, Central retinal vessel vascular...	ORPHA:2751
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Neonatal respiratory distress, Decreased heart ...	OMIM:619005
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Short stature, Proportionate short stature, Irregular vertebral endplates, ...	OMIM:156500
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Stroke-like episode,...	OMIM:222300
Atrial Standstill 1	Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at...	OMIM:108770
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Depression, Gr...	ORPHA:99832
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Renal insufficiency, Epistaxis, Albinism, Hema...	OMIM:203300
Osteopathia Striata-Cranial Sclerosis Syndrome	Severe short stature, Facial palsy, Hyperlordosis, Coarctation of aorta, Scoliosis, Aortic valve ...	ORPHA:2780
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ...	ORPHA:276621
Susac Syndrome	Lethargy, Apathy	ORPHA:838
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated hepatic transaminase, Short stature, Patent ductus arteriosus, Renal tubular dysfunction...	OMIM:614886
Generalized Arterial Calcification Of Infancy	Respiratory distress, Medial calcification of large arteries, Edema, Cardiomegaly, Polyhydramnios...	ORPHA:51608
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Pneumonia, Recurrent upper respiratory tract infections, Growth delay, B lymphocytopenia, Chronic...	OMIM:614069
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress, Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Apl...	ORPHA:2255
Marden-Walker Syndrome	Decreased muscle mass, Inguinal hernia, Hypospadias, Dextrocardia, Short neck, Postnatal growth r...	OMIM:248700
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Osteomalacia, Recurrent fractures, Bowing of the le...	OMIM:300009
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Curly eyelashes, Short neck, Cardiomegal...	ORPHA:1517
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Apnea, Bilateral cryptorchidism, Synophrys, Thoracic kyphosis, ...	OMIM:602535
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse scalp hair, Inguinal hernia, Ventricular septal defect, Hypospadias, Sparse eyebrow, Kypho...	ORPHA:464738
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Disproportionate short stature, Irregular vertebral endplates, Platyspondyl...	OMIM:609616
Arterial Calcification, Generalized, Of Infancy, 1	Neonatal respiratory distress, Short stature, Coronary artery calcification, Myocardial infarctio...	OMIM:208000
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis, Disproportionate short-limb short stature	OMIM:146000
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Eleva...	OMIM:601847
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath...	OMIM:301078
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Dravet Syndrome	Pallor	ORPHA:33069
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Drug-Induced Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart ...	ORPHA:90037
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Short stature, Cryptorchidism, Low po...	ORPHA:2701
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Abnormal internal carotid artery morphology, Abnormal ...	ORPHA:97685
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Skeletal muscle atrophy, Alopecia, Ketonuria, Seborrheic dermatitis, Hyperglycinuria, Organic aci...	OMIM:210210
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Clinodactyly, Decreased platelet glycop...	OMIM:603585
Pelizaeus-Merzbacher Disease	Recurrent respiratory infections, Failure to thrive in infancy, Short stature, Cachexia, Kyphosis...	ORPHA:702
Autosomal Erythropoietic Protoporphyria	Eczema, Edema, Microcytic anemia, Decreased liver function, Cirrhosis, Cholelithiasis	ORPHA:79278
Cardiomyopathy, Familial Hypertrophic, 13	Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu...	OMIM:613243
Proteasome-Associated Autoinflammatory Syndrome 4	Skeletal muscle atrophy, Myositis, Autoimmune hemolytic anemia, Hepatomegaly, Edema, Splenomegaly...	OMIM:619183
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Tricuspid regurgitation, Failure to thrive, El...	OMIM:300972
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Koolen-De Vries Syndrome	Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Vertebral fusion, Short statu...	OMIM:610443
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Dilation of Virchow-Robin spaces, Camptodactyly of finger, Highly arched eyebrow, Supernumerary n...	OMIM:619951
Facioscapulohumeral Dystrophy	Abnormal eyelash morphology, Hyperlordosis	ORPHA:269
Noonan Syndrome 7	Curly hair, Short stature, Short neck, Large for gestational age, Lentigo maligna melanoma, Low p...	OMIM:613706
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Polyhydramnios, Short neck, Osteoarthritis, ...	ORPHA:1427
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Increased muscle glycogen content, Growth delay, Incre...	OMIM:261750
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Pancytopenia, Hypertriglyceridemia, Facial edema, Splenomegaly, Panniculitis, Hemophagocytosis, S...	OMIM:618398
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Hepatomegaly, Portal hypertension, Elevated hepatic transaminase	OMIM:617068
Lethal Acantholytic Erosive Disorder	Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Impaired myocardial contractility...	ORPHA:158687
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Costello Syndrome	Ventricular septal defect, Failure to thrive in infancy, Polyhydramnios, Short neck, Abnormal hai...	ORPHA:3071
Familial Hypoaldosteronism	Orthostatic hypotension, Renal salt wasting, Decreased urinary potassium, Hypovolemia, Proximal r...	ORPHA:427
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria	OMIM:614053
Sjögren-Larsson Syndrome	Short stature, Abnormal dental enamel morphology, Kyphosis, Scoliosis, Inflammatory abnormality o...	ORPHA:816
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Overlapping toe, Proximal placement of thumb, Increased mean platelet volume, Tapered finger, Fle...	ORPHA:487796
Developmental And Epileptic Encephalopathy 75	Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Arthrogryposis, Distal, Type 5	Decreased muscle mass, Short stature, Reduced forced expiratory volume in one second, Kyphosis, R...	OMIM:108145
Proteus Syndrome	Decreased muscle mass, Lymphedema, Neoplasm of the thymus, Pulmonary embolism, Abnormal lung loba...	ORPHA:744
Cystic Fibrosis	Hepatomegaly, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recu...	OMIM:219700
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Abnormal circulating enzyme concentration or activity, Apnea, Lower limb muscle weakness, Stroke,...	ORPHA:395
Rett Syndrome	Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Short stature, Kyphosis,...	OMIM:312750
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hypoplastic vertebral bodies, Platyspondyly...	OMIM:230600
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ...	ORPHA:45453
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Short neck, Low anterior hairline, Short stature, Hyperlordosis, Unilateral renal hypoplasia, Sco...	OMIM:619950
Glycerol Kinase Deficiency	Increased urinary glycerol, Small for gestational age, Short stature, Hypertriglyceridemia, Chron...	OMIM:307030
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Kyphosis, Abnormal me...	ORPHA:2075
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Short stature, Polyhydramnios, Splenomegaly, Growth delay...	OMIM:618541
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Ragged-red muscle fibers, Nephrotic syndrome,...	OMIM:607426
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Protoporphyria, Erythropoietic, 1	Hemolytic anemia, Hypertriglyceridemia, Eczema, Edema, Cholelithiasis, Hepatic failure	OMIM:177000
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Elevated h...	OMIM:229600
Immunodeficiency 21	Osteomyelitis, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervical intraepithelial neopl...	OMIM:614172
Pentalogy Of Cantrell	Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Cong...	ORPHA:1335
Steel Syndrome	Lumbar hyperlordosis, Short stature, Scoliosis	OMIM:615155
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten...	OMIM:618652
Turner Syndrome Due To Structural X Chromosome Anomalies	Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Ectopic kidney, Gastrointes...	ORPHA:99413
Mosaic Monosomy X	Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Ectopic kidney, Gastrointes...	ORPHA:99228
Monosomy X	Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Ectopic kidney, Gastrointes...	ORPHA:99226
Turner Syndrome	Bicuspid aortic valve, Myocardial infarction, Short neck, Lymphedema, Ectopic kidney, Gastrointes...	ORPHA:881
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers, Slender build, Cachexia, Weight loss	OMIM:613662
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Kyphosis, Recurrent pneumonia, Sparse ha...	OMIM:616449
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Weight loss, Pleural effusion, Nephrotic syndrome, Nephropathy, Ve...	ORPHA:29073
D-2-Hydroxyglutaric Aciduria 1	Aortic regurgitation, Apnea, Glutaric aciduria, Cardiomyopathy, D-2-hydroxyglutaric aciduria, Ins...	OMIM:600721
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Skin rash, Failure to thrive in infancy, Lipodystrophy, Leukocytosis, Vasculitis, L...	OMIM:617099
Opsismodysplasia	Hepatomegaly, Abnormally ossified vertebrae, Recurrent respiratory infections, Severe short statu...	ORPHA:2746
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome...	OMIM:616860
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Noonan Syndrome 10	Curly hair, Mitral stenosis, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow...	OMIM:616564
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal cyst, Bilateral superior vena cava with no bridging vein, Neutropenia...	OMIM:618460
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Coronary artery calcification, Myocardial infarction, Cardiomegaly, Cong...	OMIM:614473
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Sialuria	Hepatomegaly, Inguinal hernia, Splenomegaly, Synophrys, Low posterior hairline, Macroglossia, Hyp...	OMIM:269921
Nail-Patella Syndrome	Back pain, Decreased muscle mass, Flexion contracture, Knee flexion contracture, Nephritis, Lumba...	ORPHA:2614
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Short neck, Lymphedema, Atrial septal defect, Abnormal bleeding...	OMIM:163950
Glossopharyngeal Neuralgia	Schwannoma, Jaw claudication, Weight loss, Depression, Syncope, Neoplasm, Bradycardia, Abnormalit...	ORPHA:221098
46,Xy Sex Reversal 3	Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ...	OMIM:612965
Bile Acid Synthesis Defect, Congenital, 2	Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, He...	OMIM:235555
Mucoepithelial Dysplasia, Hereditary	Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Cor pulmonale, Chronic mucocutaneous cand...	OMIM:158310
Fish-Eye Disease	Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy, Atherosclerosis	ORPHA:79292
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Abs...	ORPHA:35078
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Depression, Scol...	OMIM:128100
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233710
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Short stature, Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Long eyelashes, Scoliosis...	ORPHA:48431
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Alopecia, Absent eyebrow, Short stature, Splenomegaly, Jaundice, ...	OMIM:263700
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ...	OMIM:600802
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Kyphosis, Abnormality of the ovary, Congenital muscular dystrophy, Decreased testicular size	ORPHA:1875
Mitochondrial Complex I Deficiency, Nuclear Type 36	Limb hypertonia, Recurrent lower respiratory tract infections, Perimembranous ventricular septal ...	OMIM:619170
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Tricuspid regurgitation, Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate ...	OMIM:263520
Coffin-Siris Syndrome	Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Hepatoblastoma,...	ORPHA:1465
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Aplasia of the vagina, Aplasia of the fal...	OMIM:158330
Schaaf-Yang Syndrome	Failure to thrive in infancy, Short stature, Kyphosis, Cryptorchidism, Flexion contracture, Obesi...	OMIM:615547
Secondary Short Bowel Syndrome	Enterocolitis, Cholestasis, Dehydration, Weight loss, Growth delay, Steatorrhea, Failure to thriv...	ORPHA:95427
Adrenocortical Carcinoma	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:1501
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the...	OMIM:183900
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Abnormal tibia morphology, Fibul...	ORPHA:2634
Trichorhinophalangeal Syndrome Type 1	Short stature, Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Leukonyc...	ORPHA:77258
19Q13.11 Microdeletion Syndrome	Recurrent respiratory infections, Ventricular septal defect, Hypospadias, Supernumerary nipple, C...	ORPHA:217346
Sarcosinemia	Hypersarcosinuria, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis	ORPHA:3129
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumula...	OMIM:618042
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Desbuquois Dysplasia 2	Neonatal respiratory distress, Lumbar hyperlordosis, Severe short stature, Short neck, Postnatal ...	OMIM:615777
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra...	OMIM:233690
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn...	ORPHA:3243
46,Xy Sex Reversal 11	Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem...	OMIM:273250
Bloom Syndrome	Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,...	OMIM:210900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Short neck, Flexion contracture, Irregular vertebral endplates, Lumbar hyperlordosis, Tricuspid r...	OMIM:143095
Aymé-Gripp Syndrome	Sparse scalp hair, Pericarditis, Inguinal hernia, Proteinuria, Short stature, Congenital diaphrag...	ORPHA:1272
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Camptodactyly of finger, Short stature, Hyperlordosis, Kyphosis, Crypto...	ORPHA:568
Hereditary Pheochromocytoma-Paraganglioma	Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein...	ORPHA:29072
Holt-Oram Syndrome	Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, K...	ORPHA:392
Glycogen Storage Disease Ixa1	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Growth delay, Hy...	OMIM:306000
Ectodermal Dysplasia-Syndactyly Syndrome 2	Sparse hair, Enamel hypoplasia, Cardiomegaly	OMIM:613576
Cushing Disease	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Increased body ...	ORPHA:96253
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v...	ORPHA:99104
Frank-Ter Haar Syndrome	Inguinal hernia, Acne, Camptodactyly of finger, Kyphosis, Mitral valve prolapse, Scoliosis, Umbil...	ORPHA:137834
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Renal insufficiency, Pustule, Congestive heart failure, Leukocytos...	ORPHA:247353
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Inguinal hernia, Small for gestational age, Hypospadias, Cryptorchidism, Respiratory insufficienc...	OMIM:614052
Crisponi Syndrome	Camptodactyly of finger, Sudden cardiac death, Kyphosis, Flexion contracture, Respiratory insuffi...	ORPHA:1545
2P15P16.1 Microdeletion Syndrome	Aortic regurgitation, Recurrent respiratory infections, Multicystic kidney dysplasia, Decreased t...	ORPHA:261349
Noonan Syndrome 11	Atrial septal defect, Hypertrophic cardiomyopathy, Short stature, Pulmonic stenosis	OMIM:618499
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Unilateral lung agenesis, Hemivertebrae, Atrial septal defect, Emphysema, Absent gallbladder, Lum...	ORPHA:500150
Multiple Endocrine Neoplasia, Type Iib	Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Myopat...	OMIM:162300
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Kyphosis,...	ORPHA:2635
Hall-Riggs Syndrome	Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardatio...	OMIM:234250
Dysostosis, Stanescu Type	Short stature, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macrogloss...	ORPHA:1798
Encephalitis Lethargica	Urinary incontinence, Upper limb muscle weakness, Bradycardia, Lethargy, Hyperventilation	ORPHA:83600
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Apnea, Cardiorespiratory arrest, Hypotension, Lethargy, Limb hypertonia	OMIM:608643
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P...	ORPHA:90797
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Edema of the dorsum of feet, Abnormal jugular vein morphology, Increased...	ORPHA:275766
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Hepatomegaly, Abnormal urinary color, Splenomegaly, Lymphadenopathy	ORPHA:56425
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor	OMIM:613839
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, Hernia, Atrial septal def...	ORPHA:280
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Anophthalmia, Skin ulcer, Scaling skin, Atrial septal defect, Microphthalmia, Dry skin	ORPHA:2526
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Aortic valve calcification,...	OMIM:231005
Hsd10 Disease, Infantile Type	Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Abnormal conc...	ORPHA:391428
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Metaphyseal dysplasia, Pancytopenia, Congenital hip dislocation, Aplastic...	OMIM:617052
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Failure to thrive, Renal insufficiency, Proteinuria, Severe short ...	OMIM:610965
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Diencephalic Syndrome	Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight	ORPHA:1672
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lumbar hyperlordosis, Ventricular septal defect, Short neck, Postnatal growth retardation, Crypto...	ORPHA:251028
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Osteoarthritis, Platyspondyly...	OMIM:177170
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic scars, Scoliosis	OMIM:617821
Reynolds Syndrome	Calcinosis, Hepatomegaly, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Raynaud phe...	OMIM:613471
Kearns-Sayre Syndrome	Hypoparathyroidism, Sideroblastic anemia, Short stature, Ragged-red muscle fibers, Cardiomyopathy...	OMIM:530000
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype...	OMIM:614676
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Short stature, Urinary incontinence, Absent pu...	ORPHA:464282
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Rhizomelia, Thoracic platyspondyly, Syno...	OMIM:619636
Short Stature, Microcephaly, And Endocrine Dysfunction	Inguinal hernia, Short stature, Unilateral renal agenesis, Ectopic kidney, Cryptorchidism, Dilate...	OMIM:616541
Autosomal Recessive Spastic Paraplegia Type 53	Kyphosis, Failure to thrive, Upper limb hypertonia	ORPHA:319199
Osteomesopyknosis	Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Myelodysplasia, Premature graying of hair, Restrictive ventilatory defect, Pulmonar...	OMIM:619767
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Failure to thrive, Stroke, Cerebral edema	OMIM:237300
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy, Intrauterine growth retardation,...	OMIM:617710
Renpenning Syndrome	Skeletal muscle atrophy, Alopecia, Abnormal hairshaft morphology, Hypospadias, Severe short statu...	ORPHA:3242
Cockayne Syndrome	Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Retinal arteriol...	ORPHA:191
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Asplenia, Kyphosis, Cryptorchidism, Abdominal situs inversus, Pulmonic...	OMIM:619123
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Hypospadias, Short neck, Cryptorchidism, Pat...	OMIM:217980
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Distal lower limb amyotrophy, Recurrent respiratory infections, Facial hypotonia, Short stature, ...	OMIM:300534
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Senior-Boichis Syndrome	Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con...	ORPHA:84081
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hepatic ste...	ORPHA:1606
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin ...	ORPHA:913
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Recurrent respiratory infections, Apnea, Abnormal pulmonary valve morphology, Abnor...	ORPHA:667
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Peritoneal Cystic Mesothelioma	Peritonitis, Neoplasm, Menorrhagia, Weight loss	ORPHA:168816
Acth-Independent Macronodular Adrenal Hyperplasia	Skeletal muscle atrophy, Adrenal hyperplasia, Kyphosis, Depression, Truncal obesity, Hypertension...	OMIM:219080
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Lymphangiectasia, Intestinal	Edema, Abnormal hair morphology, Pedal edema, Stillbirth, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Pelvis-Shoulder Dysplasia	Lumbar hyperlordosis, Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortenin...	ORPHA:2839
Proximal Myopathy With Extrapyramidal Signs	Cardiomyopathy, Central core regions in muscle fibers, Increased variability in muscle fiber diam...	ORPHA:401768
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hypertrophic cardiomyopathy, Failure to thrive, Cholestatic liver disease	ORPHA:5
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Short stature, Ovoid vertebral...	ORPHA:93315
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Pneumonia, Camptodactyly of finger, Short stature, Respiratory insuff...	ORPHA:2135
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Highly arched eyebrow, Abnormal hair pattern, Kyphosis, Cryptorchidism...	ORPHA:261250
Metaphyseal Chondrodysplasia, Schmid Type	Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Disproportionate sho...	ORPHA:174
X-Linked Charcot-Marie-Tooth Disease Type 1	Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis	ORPHA:101075
Cowden Syndrome 1	Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcino...	OMIM:158350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Small for gestational age, Short stature, Kyphoscoliosis, Kyphosis, Premature osteoarthritis, Elb...	ORPHA:93360
Pure Mitochondrial Myopathy	Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab...	ORPHA:254854
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa...	ORPHA:1457
Juvenile Huntington Disease	Bradykinesia, Depression, Weight loss	ORPHA:248111
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Pituitary Adenoma 4, Acth-Secreting	Skeletal muscle atrophy, Edema, Kyphosis, Pituitary adenoma, Obesity, Nephrolithiasis, Hypertensi...	OMIM:219090
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Absent external genitalia, Hemive...	OMIM:271520
Srd5A3-Cdg	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Microcytic ...	ORPHA:324737
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr...	ORPHA:309854
Genetic Transient Congenital Hypothyroidism	Edema, Macroglossia, Umbilical hernia, Prolonged neonatal jaundice, Lethargy, Thyroid hypoplasia,...	ORPHA:226316
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Rhizomelia, Cryptorchidism, J...	OMIM:602471
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Short stature, Kyphosis, Obesity, Scoliosis, Foot dorsiflexor weakness	OMIM:618124
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Postn...	ORPHA:288
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck, Scoliosis,...	OMIM:616801
Zimmermann-Laband Syndrome 2	Thick eyebrow, Short stature, Short neck, Kyphosis, Synophrys, Widow's peak, Macroglossia, Long e...	OMIM:616455
Oculopharyngodistal Myopathy 1	Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap...	OMIM:164310
Trichinellosis	Skin rash, Facial palsy, Edema, Facial edema, Periorbital edema, Central retinal artery occlusion...	ORPHA:863
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome	Myopathy, Hypertrophic cardiomyopathy	ORPHA:1369
Thanatophoric Dysplasia Type 1	Polyhydramnios, Abnormal sacroiliac joint morphology, Kyphosis, Increased nuchal translucency, Pa...	ORPHA:1860
Smith-Mccort Dysplasia 2	Short stature, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Disproportionate sh...	OMIM:615222
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Shortened Q...	ORPHA:143
Cockayne Syndrome A	Dry hair, Sparse hair, Micropenis, Loss of facial adipose tissue, Hepatomegaly, Short stature, Cr...	OMIM:216400
Flynn-Aird Syndrome	Skeletal muscle atrophy, Alopecia, Cachexia, Kyphosis, Scoliosis, Atherosclerosis	ORPHA:2047
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Polyhydramnios, Cachexia, Flexion contracture, Respiratory insufficiency,...	OMIM:618186
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Distal lower limb amyotrophy, Hypospadias, Short stature, Kyphosis, Cryptorchidism, Macroglossia,...	OMIM:300354
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:311250
Pontocerebellar Hypoplasia, Type 17	Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent ductus arteriosus, Low...	OMIM:619909
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Recurrent respiratory infections, Apnea, Albinism, Splenomegaly, Abnormal pulmonary...	OMIM:617050
Opitz-Kaveggia Syndrome	Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Hypospadias, Short stature, Sho...	OMIM:305450
Autoimmune Pulmonary Alveolar Proteinosis	Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Weight loss, Hy...	ORPHA:747
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Abnormal hair morpholo...	ORPHA:1979
Acute Adrenal Insufficiency	Normocytic anemia, Orthostatic hypotension, Renal insufficiency, Decreased circulating cortisol l...	ORPHA:95409
Cockayne Syndrome B	Dry hair, Sparse hair, Micropenis, Loss of facial adipose tissue, Hepatomegaly, Cryptorchidism, R...	OMIM:133540
Perry Syndrome	Hypoventilation, Central hypoventilation, Respiratory insufficiency, Weight loss, Depression, Bra...	OMIM:168605
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Isolated Permanent Neonatal Diabetes Mellitus	Failure to thrive, Ketonuria, Moderate albuminuria, Hypovolemia, Dehydration, Abnormal heart morp...	ORPHA:99885
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Micrognathia, Short thumb, Hypopla...	OMIM:227270
Moynahan Syndrome	Sparse hair, Alopecia, Short stature, Cachexia	ORPHA:2574
Harel-Yoon Syndrome	Hypertrophic cardiomyopathy, Distal amyotrophy, Scoliosis	OMIM:617183
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Trisomy 8P	Sacral dimple, Multiple joint contractures, Abnormal atrioventricular connection, Short neck, Cry...	ORPHA:264450
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia	ORPHA:3222
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ...	ORPHA:368
Diabetes And Deafness, Maternally Inherited	Cardiomyopathy	OMIM:520000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ragged-red muscle fibers, Limb muscle weakness, Depression, Cardiomyopathy, Bradycardia, Arrhythm...	OMIM:609286
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Dehydration, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodonti...	ORPHA:534
Ménétrier Disease	Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Weight loss, Peripheral edema, Giant ...	ORPHA:2494
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion	Takotsubo cardiomyopathy	ORPHA:363549
Graves Disease, Susceptibility To, 1	Goiter, Congestive heart failure, Abnormal abdomen morphology, Weight loss	OMIM:275000
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom...	OMIM:185000
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Aspiration pneumonia, Cough	ORPHA:216866
Split Cord Malformation	Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Capillary ...	ORPHA:573278
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Polyhydramnios, Abnormal lung lobation, Renal cyst, Vertebral se...	OMIM:312870
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Exocrine pancreatic insufficiency, Dyspnea, Renal tubular dysfunction, C...	OMIM:616539
Shashi-Pena Syndrome	Dilation of Virchow-Robin spaces, Highly arched eyebrow, Unilateral renal agenesis, Kyphosis, Pat...	OMIM:617190
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Ulnar deviated club hands, Lateral humeral condyle aplasia, Fibular hy...	OMIM:164900
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cryptorchidism, 3-Methylglutaconic aciduria, Scoliosis, Delayed puberty, Hypertrophic cardiomyopa...	ORPHA:496790
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Scapular winging, Inguinal hernia, Block vertebrae, Hyperlordosis, Short neck, ...	OMIM:272460
Inflammatory Bowel Disease (Crohn Disease) 1	Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph...	OMIM:266600
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Cardiofaciocutaneous Syndrome	Brittle hair, Short neck, Lymphedema, Sparse hair, Atrial septal defect, Dystrophic fingernails, ...	ORPHA:1340
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor	OMIM:246450
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Rhizomelia, Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyl...	OMIM:618019
Baralle-Macken Syndrome	Kyphosis, Urinary incontinence, Obesity, Hirsutism	OMIM:619255
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Curly hair, Sacral dimple, Short stature, Thoracolumbar scoliosis, Cyst of ...	ORPHA:480880
Wolfram Syndrome	Gastrointestinal hemorrhage, Central apnea, Dysuria, Abnormal mesentery morphology, Respiratory i...	ORPHA:3463
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Short stature, Cryptorchidism, Pate...	OMIM:616975
Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Mucopolysacchariduria, Rhinitis	ORPHA:93474
Juvenile Polyposis Of Infancy	Refractory anemia, Gastrointestinal hemorrhage, Abnormal bleeding, Subcutaneous lipoma, Short sta...	ORPHA:79076
Nail-Patella Syndrome	Back pain, Biceps aplasia, Lumbar hyperlordosis, Renal insufficiency, Glomerulonephritis, Protein...	OMIM:161200
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteriosus, Umbilical hernia...	OMIM:612938
Combined Oxidative Phosphorylation Deficiency 41	Decreased circulating cortisol level, Nonimmune hydrops fetalis, Cardiomegaly, Intrauterine growt...	OMIM:618838
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Lymphadenitis, Salmonella osteomyelitis, Vasculitis in the skin, Pneumonia	ORPHA:319552
Inflammatory Pseudotumor Of The Liver	Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate...	ORPHA:90003
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Jaundice, Chronic ...	ORPHA:469
Chronic Graft Versus Host Disease	Fasciitis, Flexion contracture, Xerostomia, Cough, Alopecia, Bronchiectasis, Bronchiolitis oblite...	ORPHA:99921
Turnpenny-Fry Syndrome	Aortic regurgitation, Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotoni...	OMIM:618371
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Inguinal hernia, Multiple joint contractures, Highly arched eyebrow, Cardiomegaly, ...	OMIM:618143
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial...	OMIM:613874
Isaacs Syndrome	Calf muscle hypertrophy, Weight loss	ORPHA:84142
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp...	OMIM:613873
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Micropenis, Pelvic kidney...	ORPHA:464306
Smith-Lemli-Opitz Syndrome	Facial capillary hemangioma, Abnormal lung lobation, Renal cyst, Hypocholesterolemia, Atrial sept...	OMIM:270400
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Frontal balding, Short neck, Cryptorchidism, Synophrys, ...	ORPHA:96092
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Synophrys, Scoliosis, Hypertrichosis	ORPHA:85317
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Short neck, Kyphosis, Cryptorchidism...	ORPHA:3409
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Septate vagina, Unilateral renal agenesis, Uterus didelphys, Abnormal heart ...	ORPHA:2237
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Palpebral edema, Edema, Pulmonary embolism, Facial edema, Respiratory tract infection, Minimal ch...	ORPHA:567546
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Eosinophilia, Kyphoscoliosis, Disproportionate short stature, Platyspondyly, Cervical instability...	OMIM:617425
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Cong...	OMIM:608328
Classic Homocystinuria	Gastrointestinal hemorrhage, Hepatomegaly, Sparse scalp hair, Elevated hepatic transaminase, Pulm...	ORPHA:394
Plague	Respiratory distress, Chapped lip, Edema, Lymphadenitis, Acute infectious pneumonia, Inflammation...	ORPHA:707
Congenital Tufting Enteropathy	Dehydration, Weight loss, Arthritis, Cholestatic liver disease, Steatorrhea, Punctate keratitis, ...	ORPHA:92050
Elliptocytosis 1	Pallor	OMIM:611804
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Pate...	OMIM:277600
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Lumbar hyperlordosis, Short stature, Bilateral camptodactyly, Lumbar kyphosis, Growth ...	OMIM:619234
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou...	ORPHA:99125
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Abnormal curvature of the vertebral column, Neoplasm, Otitis media, Vesico...	ORPHA:353281
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Brittle hair, Cholangitis, Microvesicular hepatic steatosis, Rhabd...	OMIM:124000
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Apnea, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dyspn...	ORPHA:255210
Hyper-Igd Syndrome	Neutrophilia, Skin rash, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatospleno...	OMIM:260920
Ehlers-Danlos Syndrome, Vascular Type	Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Emphysema, Short stature, Repeated ...	OMIM:130050
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Malt Lymphoma	Recurrent respiratory infections, B-cell lymphoma, Mediastinal lymphadenopathy, Lymphadenopathy, ...	ORPHA:52417
Pseudoxanthoma Elasticum	Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu...	OMIM:264800
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Abnormal circulating enzyme concentration or activity, Pancytopenia, Facial...	ORPHA:309282
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Polyhydramnios, Renal cyst, Micropenis, Pelvic kidney, Abnormality of the cervical spine, Hypospa...	ORPHA:464311
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Vici Syndrome	Recurrent respiratory infections, Short stature, Ureteral atresia, Renal tubular acidosis, Cardio...	ORPHA:1493
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Papilloma, Conjunctiva...	ORPHA:201
Huntington Disease	Depression, Bradykinesia, Weight loss, Apathy, Decreased body mass index	ORPHA:399
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular...	OMIM:177850
Holoprosencephaly	Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Microphthalmia, Tet...	ORPHA:2162
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Pmm2-Cdg	Respiratory distress, Multiple joint contractures, Lymphedema, Intracranial hemorrhage, Hepatic f...	ORPHA:79318
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Rhizomelia, Kyphoscoliosis, Laryngotracheomalacia, Platyspondyly, Thoracic ...	OMIM:271510
Leopard Syndrome 2	Curly hair, Hypertrophic cardiomyopathy, Short stature, Short neck	OMIM:611554
Spinocerebellar Ataxia 48	Urinary incontinence, Cachexia, Depression	OMIM:618093
Cardiomyopathy, Familial Hypertrophic, 2	Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc...	OMIM:115195
Mitochondrial Complex I Deficiency, Nuclear Type 29	Dyspnea, Lacticaciduria, Stage 5 chronic kidney disease, Abnormal heart morphology, Palpitations,...	OMIM:618250
Hec Syndrome	Polyhydramnios, Vaginal hydrocele, Respiratory insufficiency, Cardiomyopathy, Endocardial fibroel...	ORPHA:2119
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Polyhydramnios, Right ventric...	OMIM:619472
Cockayne Syndrome Type 1	Anophthalmia	ORPHA:90321
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Hydranencephaly	Abnormal internal carotid artery morphology, Postnatal growth retardation, Dilatation of the vent...	ORPHA:2177
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Hypoplasia of penis, Slow-growing hair, Short stature, Short neck, Abnormal hair morphology, Kyph...	ORPHA:3082
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal...	OMIM:612124
Costello Syndrome	Polyhydramnios, Short neck, Sparse hair, Atrial septal defect, Lymphangiectasis, Short stature, R...	OMIM:218040
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Renal salt wasting, Cryptorchidism, Testicular adrenal rest...	ORPHA:361
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Ventricular septal defect, Hypospadias, Kyphoscoliosis, Postnatal growth retardation, Kyphosis, C...	OMIM:301040
Zttk Syndrome	Aortic regurgitation, Absent gallbladder, Curly hair, Unilateral lung agenesis, Ventricular septa...	OMIM:617140
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Ab...	ORPHA:158048
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Hip Dysplasia, Beukes Type	Kyphosis, Osteoarthritis, Scoliosis	ORPHA:2114
Hyperglycinemia, Lactic Acidosis, And Seizures	Apnea, Respiratory insufficiency, Growth delay, Joint contracture, Hypertrophic cardiomyopathy, C...	OMIM:614462
Joubert Syndrome 5	Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d...	OMIM:610188
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp...	OMIM:609813
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Acne, Short stature, Kyphosis, Scoliosis, Atrial sept...	ORPHA:261190
X-Linked Charcot-Marie-Tooth Disease Type 4	Skeletal muscle atrophy, Kyphosis, Scoliosis	ORPHA:101078
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Short neck, Ectopic kidney, Synophrys, Renal cyst, Otitis media,...	OMIM:122470
Cohen Syndrome	Ventricular septal defect, Thick hair, Failure to thrive in infancy, Short stature, Abnormal eyel...	ORPHA:193
Lateral Meningocele Syndrome	Vertebral fusion, Decreased muscle mass, Neurogenic bladder, Ventricular septal defect, Bicuspid ...	OMIM:130720
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ...	OMIM:610910
Lead Poisoning	Decreased HDL cholesterol concentration, Cranial hyperostosis, Imbalanced hemoglobin synthesis, A...	ORPHA:330015
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Skeletal muscle atrophy, Recurrent respiratory infections, Respiratory distr...	OMIM:211530
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Short stature, Centrally nucleated skeletal muscle fibers, Kyphosis, Fle...	OMIM:248800
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hip contracture, Short stature, Cachexia, Short neck, Elbow flexion contracture, Knee flexion con...	ORPHA:371364
Niemann-Pick Disease Type C	Hepatomegaly, Bipolar affective disorder, Bone-marrow foam cells, Fetal ascites, Low cholesterol ...	ORPHA:646
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Postnatal growth retardation, Hypoplasia of the odontoid proces...	OMIM:223800
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia	ORPHA:1216
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur...	OMIM:615398
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Abnormal number of alpha granules, Splenom...	OMIM:139090
Classical-Like Ehlers-Danlos Syndrome Type 2	Thoracic scoliosis, Widened atrophic scar, Prominent veins on trunk, Periodontitis, Alopecia, Per...	ORPHA:536532
Tay-Sachs Disease	Pallor	OMIM:272800
Koolen-De Vries Syndrome	Vertebral fusion, Hypopigmentation of hair, Ureteral duplication, Bicuspid aortic valve, Hypospad...	ORPHA:96169
Rheumatoid Arthritis	Vasculitis, Weight loss, Joint swelling, Digital flexor tenosynovitis, Rheumatoid arthritis	OMIM:180300
Pyomyositis	Recurrent cutaneous abscess formation, Myositis, Renal insufficiency, Sudden cardiac death, Leuko...	ORPHA:764
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Low back pain, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,...	ORPHA:86843
Townes-Brocks Syndrome 2	Hypospadias, Bifid uterus, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused ...	OMIM:617466
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Disproportionate short stature, Thoraco...	OMIM:602875
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia,...	OMIM:130650
8P11.2 Deletion Syndrome	Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Short stature, Splenomegaly, Patent ductus ...	ORPHA:251066
Addison Disease	Normocytic anemia, Hypoparathyroidism, Orthostatic hypotension, Primary testicular failure, Decre...	ORPHA:85138
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Aortic regurgitation, Curly hair, Sparse scalp hair, Inguinal hernia, Ventricular septal defect, ...	OMIM:607721
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Kyphosis, Absence of subcutan...	OMIM:616914
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste...	ORPHA:289176
Osteogenesis Imperfecta	Cervical kyphosis, Osteoarthritis, Flexion contracture, Abnormal form of the vertebral bodies, Ne...	ORPHA:666
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal d...	OMIM:618280
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278740
Combined Oxidative Phosphorylation Deficiency 5	Growth delay, Hypertrophic cardiomyopathy, Ascites, Edema	OMIM:611719
Spastic Paraplegia 46, Autosomal Recessive	Urinary incontinence, Kyphosis, Scoliosis, Limb muscle weakness, Lower limb muscle weakness	OMIM:614409
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Hypospadias, Short stature, Cryptorchidism, Patent...	ORPHA:163979
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Disproportionate short-limb short stature, Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral b...	OMIM:608728
Isotretinoin-Like Syndrome	Inguinal hernia, Bicuspid aortic valve, Postnatal growth retardation, Abnormal cardiac ventricle ...	ORPHA:2306
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Lumbar hyperlordosis, Progressive flexion contractures, Abnormal location of the e...	ORPHA:522077
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Erythema, Mitral valve prolapse, Abnormal cardiac septum mo...	ORPHA:2556
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Cardiomyopathy, Hypertensio...	OMIM:102200
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Hypoventilation, Short stature, Kyphosis, Recurrent pneumonia, Elbow flexion con...	OMIM:618493
Cystinosis, Nephropathic	Skeletal muscle atrophy, Dehydration, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight...	OMIM:219800
Alexander Disease Type I	Cachexia, Failure to thrive, Scoliosis	ORPHA:363717
Diamond-Blackfan Anemia 1	11 pairs of ribs, Macrocytic anemia, Tricuspid stenosis, Congenital hypoplastic anemia, Micrognat...	OMIM:105650
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Choreoacanthocytosis	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Peroneal muscle atro...	ORPHA:2388
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Recurrent respiratory infections, Limb joint contrac...	ORPHA:404454
Kleefstra Syndrome 2	Growth delay, Kyphosis, Thick eyebrow, Scoliosis	OMIM:617768
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Brain neoplasm, Prolonged QRS complex, Decreased response to growth horm...	ORPHA:273
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe...	OMIM:153400
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ...	OMIM:615745
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Postnatal g...	ORPHA:96191
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Joint hypermobility, Micrognathia	OMIM:617101
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Osteoarthritis, Intracranial hemorrhage, Dystrophic fingernails, Absent ey...	ORPHA:740
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Patent ductus arteriosus, Abnormal lung lobation, Obesi...	ORPHA:369837
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers...	OMIM:610915
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Vertebral hypoplasia, Short meta...	OMIM:108720
Microgastria-Limb Reduction Defect Syndrome	Atrial septal defect, Microphthalmia, Truncus arteriosus, Anophthalmia	ORPHA:2538
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl...	ORPHA:416
Sponastrime Dysplasia	Lumbar hyperlordosis, Small for gestational age, Hypospadias, Kyphoscoliosis, Rhizomelia, Recurre...	ORPHA:93357
Osteofibrous Dysplasia, Susceptibility To	Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Poland Syndrome	Congenital diaphragmatic hernia, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Xeroderma Pigmentosum, Complementation Group D	Corneal neovascularization, Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278730
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Apnea	OMIM:616896
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Bi...	OMIM:617403
Huntington Disease-Like 1	Bradykinesia, Depression, Weight loss	ORPHA:157941
Congenital Erythropoietic Porphyria	Anisocytosis, Edema, Scarring alopecia of scalp, Red-brown urine, Squamous cell carcinoma, Leukop...	ORPHA:79277
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Alopecia, Cachexia, Xerostomia, Hematochezia, Hamartomatous polyposis, Nail dystrophy, Anemia	OMIM:175500
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan...	OMIM:600001
Rabson-Mendenhall Syndrome	Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Thick hair, Sho...	ORPHA:769
Marfan Syndrome	Pulmonary artery dilatation, Skeletal muscle atrophy, Mitral valve calcification, Arthralgia/arth...	ORPHA:558
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi...	OMIM:212112
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E...	OMIM:618138
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Rhizomelia, Short neck, Platyspondyly, Bronchospasm	OMIM:612813
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Bicuspid aortic valve, Short stature, Congenital diaphragmatic hernia, Cardiomeg...	OMIM:245600
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Short stature, Camptodactyly of finger, Abnormal hair patte...	ORPHA:85293
Christianson Syndrome	Arthrogryposis multiplex congenita, Decreased muscle mass, Cachexia, Thick eyebrow	ORPHA:85278
Distal Deletion 12Q	Short neck, Ectopic kidney, Biliary atresia, Vesicoureteral reflux, Micropenis, Patent foramen ov...	ORPHA:96149
X-Linked Intellectual Disability Due To Gria3 Mutations	Facial hypotonia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Micropenis, Abnormality of ...	ORPHA:364028
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Acne, Short stature, Kyph...	OMIM:208400
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma	ORPHA:438274
Saethre-Chotzen Syndrome	Short stature, Abnormal hair pattern, Hyperlordosis, Cryptorchidism, Low anterior hairline, Abnor...	ORPHA:794
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Sacral dimple, Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right...	OMIM:616894
Wieacker-Wolff Syndrome, Female-Restricted	Hip contracture, Short stature, Facial palsy, Polyhydramnios, Short neck, Urinary incontinence, K...	OMIM:301041
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Rhizomelia, Abnormal respiratory system physiology, Short neck	ORPHA:171866
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Severe short stature, Inguinal hernia, ...	ORPHA:2215
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278720
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Marfanoid Habitus With Situs Inversus	Aortic regurgitation, Situs inversus totalis, Kyphosis, Mitral valve prolapse, Aortic root aneury...	OMIM:609008
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta, Short stature	OMIM:169550
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co...	OMIM:603387
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Distal Duplication 5Q	Ventricular septal defect, Eczema, Dextrocardia, Hypospadias, Short stature, Cryptorchidism, Apla...	ORPHA:96097
Prader-Willi Syndrome	Recurrent respiratory infections, Decreased muscle mass, Hypoventilation, Hypopigmentation of hai...	OMIM:176270
Niemann-Pick Disease, Type C1	Hepatomegaly, Fatal liver failure in infancy, CNS foam cells, Bone-marrow foam cells, Fetal ascit...	OMIM:257220
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Ventricular septal defect, Kyphosis, Patent ductus arteriosus, S...	OMIM:617061
Pfeiffer Syndrome	Hyperlordosis, Short stature, Short neck	ORPHA:710
Toriello-Carey Syndrome	Neonatal respiratory distress, Short stature, Short neck, Sparse eyebrow, Cryptorchidism, Patent ...	ORPHA:3338
Immunodeficiency 55	Absent natural killer cells, Recurrent skin infections, Eczema, Myelodysplasia, Short stature, Po...	OMIM:617827
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Renal Nutcracker Syndrome	Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Weight loss, Hematuria, ...	ORPHA:71273
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Hy...	OMIM:265000
Protoporphyria, Erythropoietic, X-Linked	Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis	OMIM:300752
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Hemifacial Atrophy, Progressive	Kyphosis, Patchy alopecia, Poliosis	OMIM:141300
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Hematuria, Abnormal umbilical stump bleeding, Intramu...	ORPHA:79
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis	OMIM:601152
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Recurrent respiratory infections, Chronic gastritis, Skin rash, Perianal abscess, Weight loss, Ir...	OMIM:301074
Joubert Syndrome 32	Hypertrophic cardiomyopathy, Large for gestational age	OMIM:617757
Osteogenesis Imperfecta, Type Iii	Kyphosis, Disproportionate short-limb short stature, Scoliosis, Pulmonary arterial hypertension, ...	OMIM:259420
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Scoliosis	ORPHA:96
Lopes-Maciel-Rodan Syndrome	Bradykinesia, Kyphosis, Scoliosis	OMIM:617435
Cat Eye Syndrome	Ventricular septal defect, Short stature, Patent ductus arteriosus, Biliary atresia, Vesicoureter...	OMIM:115470
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Aortic regurgitation, Kyphosis, Umbilical hernia, Scoliosis	ORPHA:2181
Silver-Russell Syndrome	Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Short stature, Postna...	ORPHA:813
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Short stature, Highly arched eyebrow, Unilateral renal agenesis, Sp...	OMIM:614527
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
4Q21 Microdeletion Syndrome	Short neck, Kyphosis, Synophrys, Growth delay, Long eyelashes, Scoliosis, Intrauterine growth ret...	ORPHA:238750
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278700
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Rhabdomyolysis, Weight loss, Palpitations, Goiter	OMIM:188580
Focal Myositis	Myositis, Weight loss	ORPHA:48918
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflammation of the l...	OMIM:619708
Senior-Loken Syndrome 8	Pallor	OMIM:616307
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Short neck, Vertebral segmentation defect, Abnormal tricuspid valve morpholo...	ORPHA:1507
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia...	ORPHA:119
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Roifman-Chitayat Syndrome	Pneumonia, Ectopic kidney, Short neck, Arthritis, Umbilical hernia	OMIM:613328
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Facial capillar...	ORPHA:818
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Polyhydramnios, Abnormal curvature of the vertebral column, Otitis media, ...	ORPHA:353277
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Geleophysic Dysplasia 3	Hepatomegaly, Short stature, Pneumonia, Polyhydramnios, Dyspnea, Mitral regurgitation, Respirator...	OMIM:617809
Hypomelanosis Of Ito	Kyphosis, Alopecia, Scoliosis	OMIM:300337
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Camptodactyly of finger, Eczema, Erythema nodosum, Tendon...	OMIM:186580
Trisomy 20P	Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Vertebral segmentation ...	ORPHA:261318
Oeis Complex	Omphalocele, Absence of the sacrum, Hydroureter, Bifid uterus, Epispadias, Cryptorchidism, Ambigu...	OMIM:258040
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Xerostomia, Thyroiditis, Enlar...	ORPHA:79078
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Hepatomegaly, Short stature, Polyhydramnios, Splenomegaly, Patent ductus ar...	OMIM:617088
De Sanctis-Cacchione Syndrome	Severe short stature, Defective DNA repair after ultraviolet radiation damage, Telangiectasia	OMIM:278800
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Absent axill...	ORPHA:90793
Infantile Krabbe Disease	Respiratory distress, Abnormal circulating enzyme concentration or activity, Cachexia, Abnormal h...	ORPHA:206436
Fibrochondrogenesis 1	Hypoplastic scapulae, Rhizomelia, Broad long bones, Dumbbell-shaped long bone, Hypoplastic ischia...	OMIM:228520
Atelis Syndrome 2	Sacral dimple, Kyphosis, Thrombocytopenia, Patent ductus arteriosus, Dyspnea, Supravalvar pulmona...	OMIM:620185
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Back pain, Bicuspid aortic valve, Synophrys, Abnormal curvature of the vertebral column, Otitis m...	OMIM:619475
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Weight loss, Edema, Dehydration	ORPHA:103910
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Micropenis, Decreased testicular size, Cryptorchidism	OMIM:615433
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Intellectual Developmental Disorder, Autosomal Dominant 29	Lumbar hyperlordosis, Hyperlordosis, Cryptorchidism, Synophrys, Obesity, Hirsutism	OMIM:616078
Hirschsprung Disease	Neoplasm of the thyroid gland, Failure to thrive in infancy, Short stature, Weight loss	ORPHA:388
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Familial Tumoral Calcinosis	Calcification of muscles, Hepatomegaly, Skin rash, Splenomegaly, Nephrocalcinosis, Neoplasm of th...	ORPHA:53715
Letterer-Siwe Disease	Pallor	OMIM:246400
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss, Conjunctival hamartoma, Erythroderma	ORPHA:312
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Lethargy	OMIM:607483
Spastic Paraplegia 53, Autosomal Recessive	Kyphosis, Lower limb hypertonia, Upper limb hypertonia, Hypertrichosis	OMIM:614898
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	OMIM:610489
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valv...	OMIM:300166
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Skeletal muscle atrophy, Pericardial effusion, Elevated urine acetoacetic acid level, Cardiomyopa...	OMIM:620089
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Hereditary Orotic Aciduria	Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu...	ORPHA:30
Mounier-Kühn Syndrome	Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis	ORPHA:3347
Complement Factor B Deficiency	Peritonitis, Pneumonia	OMIM:615561
Purine Nucleoside Phosphorylase Deficiency	Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnor...	ORPHA:760
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Ruvalcaba Syndrome	Inguinal hernia, Short stature, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty	OMIM:180870
Infantile Spasms-Broad Thumbs Syndrome	Hypertrophic cardiomyopathy, Vaginal hernia	ORPHA:3173
Autosomal Dominant Optic Atrophy Plus Syndrome	Limb-girdle muscle weakness, Myopathy, Cardiomyopathy	ORPHA:1215
Incontinentia Pigmenti	Hypoplasia of the fovea, Microphthalmia, Erythema, Pallor	OMIM:308300
Becker Nevus Syndrome	Hamartoma, Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder...	ORPHA:64755
Stickler Syndrome, Type I	Kyphosis, Osteoarthritis, Mitral valve prolapse, Arthritis, Platyspondyly, Morbus Scheuermann, Sc...	OMIM:108300
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Short stature, Overweight, Kyphosis, Asthma, Flexion contracture, Cryptorchidism, Scoliosis, Micr...	ORPHA:500055
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Abnormal form of the vertebral bodies, Atrial septal defect, Accessory spl...	OMIM:194190
Cap Polyposis	Hematochezia, Atrophic gastritis, Weight loss	ORPHA:160148
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Myasthenic Syndrome, Congenital, 20, Presynaptic	Skeletal muscle atrophy, Hypoventilation, Apnea, Facial palsy, Kyphosis, Stridor, Scoliosis, Arth...	OMIM:617143
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Tetrasomy 12P	Short stature, Cachexia, Short neck, Sparse eyebrow, Sparse hair	ORPHA:884
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ...	OMIM:620066
Ruvalcaba Syndrome	Inguinal hernia, Kyphosis, Cryptorchidism, Hematuria, Scoliosis, Delayed puberty, Abnormal verteb...	ORPHA:3121
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Radioulnar synostosi...	ORPHA:1788
Hypothyroidism, Congenital, Nongoitrous, 2	Stridor, Macroglossia, Growth delay, Umbilical hernia, Bradycardia, Ectopic thyroid, Lethargy, Th...	OMIM:218700
Leprechaunism	Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Enlarged ovaries, Hepatomegaly, Pos...	ORPHA:508
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Johanson-Blizzard Syndrome	Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Micropenis, Hep...	OMIM:243800
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Cowden Syndrome 6	Subcutaneous lipoma, Kyphosis, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Hamarto...	OMIM:615109
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Secundum atrial septal defect, Growth delay, Facial diplegia, Scoliosis, H...	OMIM:619121
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Marden-Walker Syndrome	Skeletal muscle atrophy, Epispadias, Abnormal form of the vertebral bodies, Intrauterine growth r...	ORPHA:2461
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Ventricular septal defect, Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline...	ORPHA:404440
Oromandibular Dystonia	Respiratory distress, Depression, Torticollis, Weight loss	ORPHA:93958
Myopathy, Mitochondrial, And Ataxia	Pallor	OMIM:617675
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Synophrys, Hirsutism, Scoliosis	OMIM:300861
Alternating Hemiplegia Of Childhood	Respiratory distress, Facial hypotonia, Apnea, Cardiac conduction abnormality, Dehydration, Aspir...	ORPHA:2131
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Obesity, Disproportionate short-limb short stature, Scoliosis, Recurrent ot...	OMIM:250420
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Growth...	OMIM:617913
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Recurrent respiratory infections, Short stature, Cachexia	ORPHA:1389
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Abnormality of the ureter, ...	OMIM:175200
Yunis-Varon Syndrome	Polyhydramnios, Cardiomegaly, Hydrops fetalis, Atrial septal defect, Micropenis, Hypospadias, Sho...	ORPHA:3472
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Renal hypoplasia, Scoliosis, Lipoma, Nephroblastoma, Venous malformation	OMIM:612918
Bruck Syndrome	Short stature, Kyphosis, Respiratory insufficiency, Platyspondyly, Scoliosis, Arthrogryposis mult...	ORPHA:2771
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Septate vagina, Chronic kidney disease, Uterus didelphys, Proximal renal tubular aci...	OMIM:146255
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Brittle hair, Short stature, Camptodactyly of finger, Kyphosis, Coarse hair, Joint contracture of...	ORPHA:1883
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Kyphosis, Short stature, Scoliosis	ORPHA:1858
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Skeletal muscle atrophy, Short stature, Cachexia, Methylmalonic aciduria, Aminoaciduria, Generali...	ORPHA:1933
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure	ORPHA:53296
Wars2-Related Combined Oxidative Phosphorylation Defect	Abnormal circulating enzyme concentration or activity, Cardiomyopathy, Generalized amyotrophy, In...	ORPHA:572798
Wiedemann-Rautenstrauch Syndrome	Short neck, Secundum atrial septal defect, Flexion contracture, Hypoplasia of the thymus, General...	OMIM:264090
Clark-Baraitser syndrome	Macroorchidism, Kyphosis, Obesity, Scoliosis	OMIM:300602
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Kyphosis, Slender build, Scoliosis	OMIM:300676
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Beck-Fahrner Syndrome	Depression, Ventricular septal defect, Facial hypotonia, Cardiomegaly	OMIM:618798
Campomelic Dysplasia	Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patellar hypoplasia, Femor...	OMIM:114290
Cerebrotendinous Xanthomatosis	Angina pectoris, Myocardial infarction, Tendon xanthomatosis, Respiratory insufficiency, Xanthela...	OMIM:213700
Neurofibromatosis Type 1	Astrocytoma, Multiple lipomas, Neoplasm, Pheochromocytoma, Spinal neurofibroma, Sarcoma, Short st...	ORPHA:636
Hyperlipoproteinemia, Type Id	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thr...	OMIM:615947
Intellectual Developmental Disorder, Autosomal Dominant 57	Short stature, Kyphosis, Hypertrichosis, Contracture of the proximal interphalangeal joint of the...	OMIM:618050
Homozygous Familial Hypercholesterolemia	Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A...	ORPHA:391665
Penoscrotal Transposition	Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality of the ureter, Ca...	ORPHA:2842
Sotos Syndrome	Ureteral duplication, Astrocytoma, Flexion contracture, Pedal edema, Neoplasm, Atrial septal defe...	ORPHA:821
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Kyphosis, Increased nuchal translucency	ORPHA:77300
Osteosarcoma	Abnormal lactate dehydrogenase level, Weight loss, Joint swelling, Elevated circulating alkaline ...	ORPHA:668
Cowden Syndrome 5	Subcutaneous lipoma, Kyphosis, Thyroiditis, Breast carcinoma, Hamartomatous polyposis, Ovarian cy...	OMIM:615108
X-Linked Charcot-Marie-Tooth Disease Type 5	Skeletal muscle hypertrophy, Kyphosis, Scoliosis	ORPHA:99014
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures	ORPHA:3454
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchid...	OMIM:113620
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Intrauterine grow...	ORPHA:2115
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syn...	ORPHA:91500
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Ventricular septal defect, Short stature, Polyhydramnios, Crypt...	OMIM:609942
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Pancreatic Colipase Deficiency	Megaloblastic anemia, Growth delay, Steatorrhea, Cholelithiasis, Exocrine pancreatic insufficiency	ORPHA:309108
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy...	ORPHA:300605
Frontorhiny	Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Scoliosis, Hypo...	ORPHA:391474
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hemolytic anemia, Recurrent bacterial skin infections, Abnormal bleeding, ...	ORPHA:95159
Felty Syndrome	Splenomegaly, Rheumatoid arthritis, Neutropenia	OMIM:134750
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaun...	ORPHA:90790
Acromegaly	Palpebral edema, Acne, Dysuria, Elevated circulating growth hormone concentration, Kyphosis, Oste...	ORPHA:963
Hyperbiliverdinemia	Cholelithiasis, Decreased liver function, Cholestasis, Green urine	OMIM:614156
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Scoliosis	OMIM:610743
Okamoto Syndrome	Facial hypertrichosis, Ureteropelvic junction obstruction, Omphalocele, Ventricular septal defect...	ORPHA:2729
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Xerostomia, Gastrointestinal inflammation, Conjunctivitis, Cough, Neutropen...	ORPHA:95455
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Joint stiffness, Flexion contracture, Talipes equinovarus, Clinodactyly of t...	ORPHA:847
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Plaa-Associated Neurodevelopmental Disorder	Edema of the dorsum of feet, Apnea, Edema of the dorsum of hands, Kyphosis, Respiratory insuffici...	ORPHA:521426
Osteogenesis Imperfecta, Type Ix	Kyphosis, Platyspondyly, Disproportionate short-limb short stature, Scoliosis, Dentinogenesis imp...	OMIM:259440
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Ketonuria, Acute rhabdomyolysis, Cardiac arrest, Myoglobinuria, Rh...	OMIM:616878
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Abnormal muscle fiber morphology, Decreased urinary potassium, Rhabdomyoly...	ORPHA:79102
Bullous Pemphigoid	Psoriasiform dermatitis, Eczema, Weight loss	ORPHA:703
Charge Syndrome	Anophthalmia, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Microphthalmi...	ORPHA:138
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Tachycardia, Weight loss	OMIM:613239
46,Xy Sex Reversal 7	Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla...	OMIM:233420
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Cachexia, Short neck	ORPHA:1438
Tibial Hemimelia	Absent tibia	OMIM:275220
Acrodermatitis Enteropathica	Abnormal eyebrow morphology, Alopecia, Short stature, Pustule, Cheilitis, Weight loss, Conjunctiv...	ORPHA:37
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal...	OMIM:278850
Cardiomyopathy, Familial Restrictive, 3	Myocardial sarcomeric disarray, Abnormal ST segment, Aortic aneurysm, Reduced left ventricular ej...	OMIM:612422
Short Syndrome	Alopecia, Severe short stature, Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy...	ORPHA:3163
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Apnea, Edema, Kyphosis, Respiratory insufficiency, Contractures of the large joints, Failure to t...	OMIM:617527
Alkaptonuria	Vertebral fusion, Mitral valve calcification, Low back pain, Coronary artery calcification, Aorti...	OMIM:203500
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Liposarcoma	Sarcoma, Varicose veins, Weight loss	ORPHA:69078
Bruck Syndrome 1	Hip contracture, Short stature, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, V...	OMIM:259450
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Kyphosis, Chronic kidney disease, Low anterior hairline, Obesity, Vesicoureteral reflux	ORPHA:261222
Familial Adenomatous Polyposis	Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Fumarase Deficiency	Perimembranous ventricular septal defect, Pallor	OMIM:606812
Postencephalitic Parkinsonism	Camptocormia, Kyphosis, Abnormal respiratory system physiology, Depression, Bradykinesia, Cough	ORPHA:97349
Leopard Syndrome 1	Bundle branch block, Scapular winging, Hypospadias, Short stature, Kyphoscoliosis, Short neck, Un...	OMIM:151100
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Pancreatic Triacylglycerol Lipase Deficiency	Edema, Weight loss, Growth delay, Iron deficiency anemia, Keratoconjunctivitis sicca, Colitis, St...	ORPHA:309031
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Fountain Syndrome	Short stature, Facial edema, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosi...	ORPHA:3219
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Decreased circulating cortisol level, Acne, Short stature, Frontal balding, Renal salt was...	ORPHA:90794
Hereditary Late-Onset Parkinson Disease	Spastic/hyperactive bladder, Depression, Weight loss, Bradykinesia, Apathy, Orthostatic hypotensi...	ORPHA:411602
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Aregenerative Anemia	Pallor	ORPHA:101096
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Unil...	OMIM:619480
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proteinuria, Camptodactyly of finger, Cachexia, Polyhydramnios, Nephropathy	ORPHA:2774
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Micropenis, Hypospadias, Short stature, Cr...	ORPHA:268261
Shprintzen Omphalocele Syndrome	Omphalocele, Neonatal respiratory distress, Lumbar hyperlordosis, Short stature, Kyphosis, Scolio...	OMIM:182210
Joubert Syndrome 21	Apnea, Dyspnea, Splenomegaly, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Chronic sinu...	OMIM:615636
Adenohypophysitis	Pallor	ORPHA:95512
Cerebrotendinous Xanthomatosis	Abnormal circulating enzyme concentration or activity, Abnormality of the vertebral spinous proce...	ORPHA:909
Friedreich Ataxia	Hand muscle atrophy, Cardiomyopathy, Urinary bladder sphincter dysfunction, Scoliosis	ORPHA:95
Peroxisome Biogenesis Disorder 9B	Cardiomyopathy	OMIM:614879
Difference Of Sex Development-Intellectual Disability Syndrome	Hypoplasia of penis, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posterior hairli...	ORPHA:2983
Somatomammotropinoma	Palpebral edema, Dysuria, Elevated circulating growth hormone concentration, Kyphosis, Osteoarthr...	ORPHA:314769
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, Aplasia/Hypoplasia of t...	OMIM:276820
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Kyphosis, Fine hair, Scoliosis, Sparse hair, Fail...	OMIM:617988
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Scapular winging, Dilation of Virchow-Robin spaces, Tricuspid regurgitation, Hyperlordosis, Abnor...	ORPHA:73223
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Uveitis, Conjunctivitis, Sparse hair, Abnormal vertebral morphology, Absent eyebrow, Alopecia, Ab...	ORPHA:2273
Proboscis Lateralis	Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia	ORPHA:141099
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology	OMIM:219000
Panhypophysitis	Pallor	ORPHA:95513
Testicular Agenesis	Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o...	ORPHA:325124
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Lymphedema, Short neck, Patent ductus arteriosus...	OMIM:600268
Weismann-Netter Syndrome	Kyphosis, Horizontal sacrum, Severe short stature, Scoliosis	OMIM:112350
Charge Syndrome	Overriding aorta, Ventricular septal defect, Anophthalmia, Secundum atrial septal defect, Dysplas...	OMIM:214800
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Splenomegaly, Recurrent pneumonia, Growth delay, Anemia	OMIM:612301
Fatal Familial Insomnia	Urinary retention, Apnea, Weight loss	OMIM:600072
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Hydrolethalus Syndrome 1	Accessory spleen, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Sacral dimple, Eczema, Short neck, Postnatal growth retardation, Kyphosis, Synophrys, Prominent p...	OMIM:300966
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Severe short stature, Abnormal dental enamel morphology, Kyphosis, Moderate postnatal g...	ORPHA:1005
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Congenital muscular torticollis, Vertebral fusion, Vaginal hernia, Short stature, Abnormal dental...	ORPHA:2916
Trisomy 18	Omphalocele, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia,...	ORPHA:3380
Pituitary Apoplexy	Pallor	ORPHA:95613
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow...	ORPHA:457359
Stiff Person Spectrum Disorder	Lumbar hyperlordosis, Paraspinal muscle hypertrophy	ORPHA:3198
Stickler Syndrome	Skeletal muscle atrophy, Recurrent respiratory infections, Short stature, Abnormal dental enamel ...	ORPHA:828
Monosomy 9Q22.3	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Short neck, Large for gest...	ORPHA:77301
Friedreich Ataxia	Abnormal EKG, Congestive heart failure, Decreased pyruvate carboxylase activity, Scoliosis, Hyper...	OMIM:229300
Micro Syndrome	Hypoplasia of penis, Short stature, Kyphosis, Cryptorchidism, Generalized hirsutism, Scoliosis, D...	ORPHA:2510
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo...	ORPHA:521411
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:168558
Singleton-Merten Syndrome 1	Recurrent respiratory infections, Mitral valve calcification, Short stature, Cardiomegaly, Aortic...	OMIM:182250
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Urinary incontinence, Kyphosis, Sinus bradycardia, Hypopnea, Restrictive ...	OMIM:619482
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Vesicoureteral reflux, Hypoplastic labi...	ORPHA:83628
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Sparse eyebrow, Kyphosis, Hyperlordosis, Scoliosis	OMIM:617011
Tsh-Secreting Pituitary Adenoma	Abnormal hair quantity, Enlarged pituitary gland, Supraventricular arrhythmia, Elevated circulati...	ORPHA:91347
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Hypercholesterolemi...	OMIM:238600
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Short stature, Kyphosis, Abnormal form of the vertebral bodies, Abnormal...	ORPHA:192
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circulating alkaline phosphatase conce...	OMIM:605479
Pemphigus Vulgaris	Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss	ORPHA:704
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Renal salt wasting, Female external genitalia in individual with 46,XY karyotype, Cryptorchidism,...	ORPHA:289548
Aspartylglucosaminuria	Hepatomegaly, Recurrent respiratory infections, Aspartylglucosaminuria, Macroorchidism, Inguinal ...	ORPHA:93
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Urinary incontinence, Complete atrioventricular canal defect, Synophrys, Kyphosis, Scoliosis, Fai...	ORPHA:476126
Cranioectodermal Dysplasia 1	Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro...	OMIM:218330
Pituitary Gigantism	Elevated circulating growth hormone concentration, Pituitary prolactin cell adenoma, Pituitary gr...	ORPHA:99725
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Prolactinoma	Pallor	ORPHA:2965
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Refractory Anemia With Excess Blasts	Anemic pallor	ORPHA:86839
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis, Severe short stature	OMIM:184253
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Coffin-Siris Syndrome 1	Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Atrial septal defect, Spina bifida occ...	OMIM:135900
2Q31.1 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Short stature, Short neck, A...	ORPHA:251014
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Respiratory insuff...	ORPHA:363623
Chromosome Xq26.3 Duplication Syndrome	Ventricular hypertrophy, Elevated circulating growth hormone concentration, Kyphosis, Pituitary a...	OMIM:300942
Arthrogryposis, Distal, Type 4	Torticollis, Kyphosis, Low anterior hairline, Low posterior hairline, Camptodactyly of 2nd-5th fi...	OMIM:609128
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia, Pancreatitis	OMIM:207750
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Pneumonia, Cerebral edema	OMIM:608033
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Limb hypertonia	ORPHA:500180
Occipital Horn Syndrome	Orthostatic hypotension, Pelvic bone exostoses, Ureteral obstruction, Hiatus hernia, Kyphosis, Bl...	OMIM:304150
Cole-Carpenter Syndrome 2	Short stature, Postnatal growth retardation, Kyphosis, Platyspondyly, Dentinogenesis imperfecta, ...	OMIM:616294
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Esophageal Atresia	Tetralogy of Fallot, Ventricular septal defect, Pallor	ORPHA:1199
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Recurrent respiratory infections, Sparse scalp hair, Splenomegaly, Aplasia of the s...	OMIM:612132
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Respiratory insufficiency	OMIM:610773
Ayme-Gripp Syndrome	Sparse scalp hair, Pericarditis, Short stature, Nail dystrophy, Camptodactyly, Broad eyebrow	OMIM:601088
Progressive Non-Infectious Anterior Vertebral Fusion	Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of...	ORPHA:2062
Microcephaly 13, Primary, Autosomal Recessive	Restrictive cardiomyopathy, Small for gestational age, Short stature, Intrauterine growth retarda...	OMIM:616051
Meckel Syndrome 14	Short neck, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous genitalia, Single ventr...	OMIM:619879
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Frank-Ter Haar Syndrome	Ventricular septal defect, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Acne, Secund...	OMIM:249420
Spondyloarthropathy, Susceptibility To, 1	Back pain, Anterior uveitis, Aortic regurgitation, Psoriasiform dermatitis, Kyphosis, Oligoarthri...	OMIM:106300
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Dehydration, Weight loss, Hematuria, Failure to thrive	ORPHA:35710
Mosaic Trisomy 20	Vertebral fusion, Ventricular septal defect, Kyphosis, Cryptorchidism, Dysplastic tricuspid valve...	ORPHA:1724
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Short stature, Cachexia, Arteriosclerosis, Melanoma, Basal cell carcinoma, Squamous ce...	ORPHA:220295
Cimdag Syndrome	Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly	OMIM:619273
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Renal hypoplasia, Growth delay, Aplasi...	OMIM:614083
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Macular scar, Kyphosis, Hypercalciuria, E...	OMIM:239000
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Foxg1 Syndrome Due To 14Q12 Microdeletion	Palpebral edema, Kyphosis, Growth delay, Macroglossia, Scoliosis	ORPHA:261144
Yunis-Varon Syndrome	Anterior concavity of thoracic vertebrae, Polyhydramnios, Hydrops fetalis, Aspiration pneumonia, ...	OMIM:216340
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Skeletal muscle atrophy, Short stature, Cachexia, Kyphosis, Scoliosis, Abnormal mitral valve morp...	ORPHA:1969
Weaver Syndrome	Inguinal hernia, Diastasis recti, Kyphosis, Patent ductus arteriosus, Cryptorchidism, Fine hair, ...	OMIM:277590
Exstrophy-Epispadias Complex	Bifid scrotum, Omphalocele, Inguinal hernia, Renal insufficiency, Urinary incontinence, Bifid ute...	ORPHA:322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Buphthalmos, Microphthalmia, Hypoplasia of the retina, Pallor	OMIM:253280
Phacoanaphylactic Uveitis	Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Macular edema, Corneal stromal edema, Pa...	ORPHA:209959
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Unilateral renal agenesis, Abnormal hair whorl, Aplasia of the vagina, Scoliosis...	ORPHA:457284
Multiple Osteochondromas	Neuropathic spinal arthropathy, Chondrosarcoma, Osteochondroma, Pseudoaneurysm, Short stature, Pn...	ORPHA:321
Pancreatoblastoma	Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Respiratory insufficiency, Apneic episodes in infancy, Hypertrophic cardiomyo...	OMIM:618222
Smith-Mccort Dysplasia 1	Short stature, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability...	OMIM:607326
Oculogastrointestinal Muscular Dystrophy	Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia	ORPHA:1876
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Craniofacial osteosclerosis, Osteopathi...	OMIM:300373
Ramon Syndrome	Short stature, Kyphosis, Gingival fibromatosis, Telangiectasia, Scoliosis, Decreased body weight,...	OMIM:266270
Mend Syndrome	Sacral dimple, Short stature, Kyphosis, Cryptorchidism, Abnormal heart morphology, Aortic valve s...	ORPHA:401973
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Bifid uterus	ORPHA:2736
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Hydroureter, Supernumerary nipple, Short neck, Unilateral renal agenesis, Kyphos...	OMIM:619194
Usher Syndrome	Abnormal dental enamel morphology, Abnormal cardiovascular system physiology, Depression, Myopath...	ORPHA:886
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Paraganglioma, Weight loss	ORPHA:97286
Gallbladder Disease 4	Cholelithiasis	OMIM:611465
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor	ORPHA:329971
Mend Syndrome	Sacral dimple, Short stature, Kyphosis, Cryptorchidism, Aortic valve stenosis, Crossed fused rena...	OMIM:300960
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Short stature, Kyphosis, Scoliosis	ORPHA:79107
Iniencephaly	Omphalocele, Rhizomelia, Polyhydramnios, Congenital diaphragmatic hernia, Hyperlordosis, Absent v...	ORPHA:63259
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Synophrys, Abnormal lung lobation, Atrial septal defect, P...	OMIM:607872
Cerebrocostomandibular Syndrome	Neonatal respiratory distress, Multicystic kidney dysplasia, Ventricular septal defect, Short sta...	ORPHA:1393
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Autosomal Recessive Ataxia, Beauce Type	Skeletal muscle atrophy, Urinary incontinence, Kyphosis, Scoliosis, Lower limb muscle weakness	ORPHA:88644
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Kyphosis, Cryptorchidism, Low anterior hairline, Hirsutism, Woolly hair, B...	OMIM:619244
Ketamine-Induced Biliary Dilatation	Abnormal biliary tract morphology, Dysuria	ORPHA:293807
Lowe Oculocerebrorenal Syndrome	Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Short st...	OMIM:309000
Fryns-Smeets-Thiry Syndrome	Cachexia, Short stature, Scoliosis	ORPHA:2058
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Inguinal hernia, Abnormality of the pancreas, White hair, Fine ...	ORPHA:935
Kinsship Syndrome	Osteopenia, Pes planus, Micrognathia, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyl...	OMIM:619297
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Gerstmann-Straussler Disease	Bradykinesia, Depression, Lower limb muscle weakness, Weight loss	OMIM:137440
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Weight loss	OMIM:605543
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Hypospadias, Short stature, Kyphoscoliosis, Ectopic kidney, Sparse eyebrow...	ORPHA:3063
Neu-Laxova Syndrome 1	Ventricular septal defect, Bifid uterus, Short neck, Cryptorchidism, Absent eyelashes, Yellow sub...	OMIM:256520
Cono-Spondylar Dysplasia	Short nail, Polyhydramnios, Short neck, Kyphosis, Scoliosis, Failure to thrive	ORPHA:420794
Linear Skin Defects With Multiple Congenital Anomalies 1	Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Short ...	OMIM:309801
Megalocornea-Intellectual Disability Syndrome	Kyphosis, Short stature, Hypercholesterolemia, Scoliosis	ORPHA:2479
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Distal amyotrophy, Flexion contracture, Scoliosis	OMIM:609541
Brachyolmia Type 3	Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondyly, Scoliosis	OMIM:113500
Kufor-Rakeb Syndrome	Urinary incontinence, Bradykinesia, Apathy, Leg muscle stiffness, Lethargy, Hypomimic face	ORPHA:306674
Trisomy 9P	Kyphosis, Sacral dimple, Scoliosis, Short neck	ORPHA:236
Seckel Syndrome	Sparse scalp hair, Short stature, Abnormal dental enamel morphology, Cachexia, Scoliosis, Intraut...	ORPHA:808
Pallister-Killian Syndrome	Edema of the dorsum of feet, Congenital diaphragmatic hernia, Short neck, Polyhydramnios, Flexion...	OMIM:601803
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Facial palsy, Pneumonia, Hypercapnia, Respira...	ORPHA:79138
Primary Fanconi Renotubular Syndrome	Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu...	ORPHA:3337
Cole-Carpenter Syndrome	Short stature, Abnormal dental enamel morphology, Kyphosis, Abnormal form of the vertebral bodies...	ORPHA:2050
Spondyloperipheral Dysplasia	Short stature, Ovoid vertebral bodies, Short neck, Rhizomelic leg shortening, Kyphosis, Irregular...	OMIM:271700
Glycine Encephalopathy	Lethargy, Respiratory acidosis, Breathing dysregulation	ORPHA:407
Metachromatic Leukodystrophy	Abnormal circulating enzyme concentration or activity, Urinary incontinence, Abnormal gallbladder...	ORPHA:512
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Preaxial hand polydactyly, ...	ORPHA:2753
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Kyphoscoliosis, Hydroureter, Cryptorchi...	OMIM:309800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela...	ORPHA:79280
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Kyphosis, Platyspondyly, Sclerotic vertebral body, Long eyelashes	OMIM:618476
X-Linked Creatine Transporter Deficiency	Short stature, Cachexia	ORPHA:52503
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build	OMIM:603041
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Low ...	ORPHA:1521
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Short stature, Bilateral cryptorchidism, Kyphosis, Synophrys, Flexion contractur...	ORPHA:3042
Wrinkly Skin Syndrome	Scapular winging, Failure to thrive, Short stature, Short nail, Hypoplasia of the musculature, In...	OMIM:278250
Rett Syndrome, Congenital Variant	Kyphosis, Scoliosis, Aspiration	OMIM:613454
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyebrow, Hypospadias, Eczema, Abnormal dental enamel morphology, Absent eyelashes, Kyphosis	ORPHA:85199
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic...	ORPHA:69085
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress, Short stature, Kyphosis, Moderately short st...	OMIM:119600
Coffin-Lowry Syndrome	Inguinal hernia, Short stature, Highly arched eyebrow, Kyphosis, Lumbar kyphosis, Mitral regurgit...	OMIM:303600
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Familial Osteodysplasia, Anderson Type	Kyphosis, Abnormal form of the vertebral bodies, Hypertension, Scoliosis, Thick eyebrow	ORPHA:2769
Cdags Syndrome	Sparse scalp hair, Sparse eyelashes, Hypospadias, Sparse eyebrow, Kyphosis, Rectourethral fistula	OMIM:603116
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Inguinal hernia, Hypospadias, Trichiasis, Sparse eyebrow, Kyphosis, Thin eyebrow	OMIM:609944
Pineoblastoma	Retinoblastoma, Lethargy, Pinealoma	ORPHA:251909
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short stature, Kyphosis, Bilateral camptodactyly, Synophrys, Growth delay, Scoliosis	OMIM:619557
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture	ORPHA:85193
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Inguinal hernia, Severe short stature, Hypospadias, Facial palsy, Femo...	ORPHA:2658
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect, Short stature, Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Bic...	OMIM:259770
Myoclonic-Astatic Epilepsy	Microphthalmia, Premature skin wrinkling	ORPHA:1942
Townes-Brocks Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Rectoperineal fistula, Ventricular septal defect, Hy...	OMIM:107480
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss	ORPHA:424
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:164210
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Osteogenesis Imperfecta, Type Iv	Short stature, Biconcave flattened vertebrae, Kyphosis, Scoliosis, Dentinogenesis imperfecta	OMIM:166220
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Hypospadias, Kyphosis, Cryptorchidism, Scoliosis, Delayed puberty, Micropenis	OMIM:619718
Familial Gestational Hyperthyroidism	Goiter, Thyroid hyperplasia, Weight loss	ORPHA:99819
Loeys-Dietz Syndrome	Atypical scarring of skin, Camptodactyly of finger, Scoliosis, Uterine rupture	ORPHA:60030
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Abnormality of alkaline phosphatase level, Hypoplasia of the odontoid proce...	OMIM:300106
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Kyphosis, Enuresis nocturna, Pollakisuria, 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	Hip contracture, Skeletal muscle atrophy, Sparse scalp hair, Short stature, Absent facial hair, B...	OMIM:259050
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Vascular Ehlers-Danlos Syndrome	Inguinal hernia, Alopecia, Abnormal heart valve morphology, Hypospadias, Short stature, Abnormali...	ORPHA:286
Norrie Disease	Cachexia, Venous insufficiency, Cryptorchidism, Scoliosis, Delayed puberty, Neoplasm of the eye, ...	ORPHA:649
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Lennox-Gastaut Syndrome		ORPHA:2382
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

X-ray

X-ray

X-ray

Immunophenotyping

X-ray

Immunophenotyping

Histopathology

Gross Pathology and Tissue Collection

Electrocardiogram (ECG)

Eye Morphology

Human diseases caused by Chd2 mutations

Histopathology

IMPC related publications

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