Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Kras MGI:96680

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

Kirsten rat sarcoma viral oncogene homolog

Synonyms:

Ki-ras, K-ras, Kras-2, Kras2

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No 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.

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.

Phenotype associated images not available

Human diseases caused by Kras 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 Kras (19 diseases)
Human diseases predicted to be associated with Kras (2180 diseases)

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

Disease	Matching phenotypes	Source
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Breast Cancer	Breast carcinoma	OMIM:114480
Bladder Cancer	Bladder neoplasm, Transitional cell carcinoma of the bladder	OMIM:109800
Noonan Syndrome	Sensorineural hearing impairment, Abnormal platelet function, Proptosis, Arrhythmia, Thickened he...	ORPHA:648
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He...	OMIM:614470
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Noonan Syndrome 3	Short nose, Juvenile myelomonocytic leukemia, Tricuspid valve prolapse, Patent foramen ovale, Low...	OMIM:609942
Lynch Syndrome	Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma...	ORPHA:144
Gastric Cancer	Stomach cancer	OMIM:613659
Cardiofaciocutaneous Syndrome	Short nose, Macrocephaly, Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Lon...	ORPHA:1340
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Melanoma, Colon cancer, Breast carcinoma, Ovarian carcinoma, Neoplasm ...	ORPHA:1333
Oculoectodermal Syndrome	Atrial septal defect, Transient ischemic attack, Hypertrophic cardiomyopathy	OMIM:600268
Cardiofaciocutaneous Syndrome 2	Posteriorly rotated ears, Coarse facial features, Low-set ears, Mitral valve prolapse	OMIM:615278
Linear Nevus Sebaceus Syndrome	Cavernous hemangioma, Adenoma sebaceum	ORPHA:2612
Schimmelpenning-Feuerstein-Mims Syndrome	Hemangioma, Basal cell carcinoma	OMIM:163200
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Macrocephaly, Hypospadias, Proptosis, Abnormality of the ureter, Abnormal...	ORPHA:3339
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Macrocephaly, Craniofacial hyperostosis, Pulmonary arterial hypertensio...	ORPHA:2396
Arteriovenous Malformations Of The Brain		OMIM:108010

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

Disease	Matching phenotypes	Source
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Tumor Predisposition Syndrome 1	Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu...	OMIM:614327
Cardiomyopathy, Dilated, 1M	Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac...	OMIM:607482
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Cardiomyopathy, Dilated, 2A	Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula...	OMIM:611880
Tumor Predisposition Syndrome 4	Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma	OMIM:609265
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Melanoma-Pancreatic Cancer Syndrome	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Cardiomyopathy, Dilated, 1Ee	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613252
Cardiomyopathy, Dilated, 1R	Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper...	OMIM:613424
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume...	OMIM:613286
Cardiomyopathy, Dilated, 1Dd	Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 1L	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:606685
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Epidermodysplasia Verruciformis, Susceptibility To, 3	Verrucae, Basal cell carcinoma, Squamous cell carcinoma	OMIM:618267
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Cardiomyopathy, Dilated, 1I	Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ...	OMIM:604765
Left Ventricular Noncompaction 10	Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en...	OMIM:615396
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Cardiomyopathy, Dilated, 1J	Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ...	OMIM:613642
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy	ORPHA:217622
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,...	OMIM:601493
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Hypertension, Essential	Elevated systolic blood pressure, Elevated mean arterial pressure, Elevated diastolic blood pressure	OMIM:145500
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy	OMIM:616500
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Dilated, 1B	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Cardiomyopathy, Dilated, 1U	Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at...	OMIM:613694
Cheilitis Glandularis	Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm	ORPHA:1221
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Cardiomyopathy, Dilated, 1Bb	Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr...	OMIM:612877
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro...	OMIM:612158
Cardiomyopathy, Dilated, 1X	Reduced left ventricular ejection fraction, Calf muscle hypertrophy, Increased variability in mus...	OMIM:611615
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Chondrosarcoma, Multiple enchondromatosis	OMIM:166000
Cardiomyopathy, Dilated, 1Kk	Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi...	OMIM:615248
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Glycogen Storage Disease Due To Lamp-2 Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	ORPHA:34587
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 30, Atrial	Left atrial enlargement, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibri...	OMIM:620734
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Sca...	OMIM:608099
Desmoid Disease, Hereditary	Desmoid tumors, Colon cancer, Breast carcinoma, Colorectal polyposis	OMIM:135290
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Cardiomyopathy, Dilated, 2J	Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced...	OMIM:620635
Cardiomyopathy, Dilated, 1V	Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A...	OMIM:613697
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly, Pallor	ORPHA:46532
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Muscular dystrophy, Calf muscle pseudohypertrophy, Scapular winging, Limb-girdle muscle weakness,...	OMIM:604286
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Chondrosarcoma, Multiple enchondromatosis	OMIM:614569
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma	ORPHA:50944
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi...	OMIM:181350
Cardiomyopathy, Familial Hypertrophic, 15	Congestive heart failure, Hyperdynamic left ventricular ejection fraction, Endocardial fibrosis, ...	OMIM:613255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602087
Cardiomyopathy, Dilated, 2G	Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar...	OMIM:619897
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,...	ORPHA:454840
Acquired Ichthyosis	Sarcoma, Neoplasm, Lymphoma, Multiple myeloma	ORPHA:454
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Squamous cell carcinoma, Melanoma	ORPHA:90342
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Verrucae, Recurrent sinusitis, Pne...	ORPHA:217390
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema...	OMIM:620247
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr...	OMIM:602086
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Distal lower limb muscle weakness, Thenar muscle atrophy, Fiber type grouping, Interosseus muscle...	OMIM:619903
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Milroy Disease	Angiosarcoma, Neoplasm of the skin, Hydrocele testis	ORPHA:79452
Congenital Myopathy 5 With Cardiomyopathy	Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro...	OMIM:611705
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma	ORPHA:2762
Paraneoplastic Pemphigus	B-cell lymphoma, Sarcoma, Thymoma	ORPHA:63455
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the ...	ORPHA:206546
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Atrial septal defect, Atrial fibrillation, Aortic valve stenosis, Tetralog...	OMIM:617912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Reduced muscle fiber merosin, Calf muscle hypertrophy, Reduced muscle fiber a...	ORPHA:34515
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Familial Isolated Dilated Cardiomyopathy	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	ORPHA:154
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa...	ORPHA:1345
Schopf-Schulz-Passarge Syndrome	Apocrine hidrocystoma, Poroma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:224750
Myopathy, Distal, 1	Left atrial enlargement, Distal lower limb muscle weakness, Ragged-red muscle fibers, Tibialis an...	OMIM:160500
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic...	OMIM:601419
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Calf muscle hypertrophy, Reduced systolic function, Skeletal muscle atrophy, ...	OMIM:616827
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 28	Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e...	OMIM:619402
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov...	OMIM:619371
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	T-cell lymphoma, Acute myeloid leukemia, Squamous cell carcinoma, Hepatocellular carcinoma, Neopl...	ORPHA:158057
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Myocardial infarction	OMIM:608320
Maffucci Syndrome	Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor...	ORPHA:163634
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul...	ORPHA:206559
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Flexion contracture, Dilated car...	OMIM:300718
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Hip flexor weakness, Distal lower limb muscle weakness, Cardiomyopathy, Intrinsic hand muscle atr...	ORPHA:63273
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:616198
Liposarcoma	Sarcoma	ORPHA:69078
Ollier Disease	Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral angiomatosis	ORPHA:296
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir...	OMIM:612937
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Pheochromocytoma/Paraganglioma Syndrome 6	Hypertension	OMIM:618464
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Failure to thrive, T...	OMIM:615285
Epidermodysplasia Verruciformis, Susceptibility To, 2	Squamous cell carcinoma of the skin, Verruca plana	OMIM:618231
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Recurrent Respiratory Papillomatosis	Atelectasis, Squamous cell carcinoma, Abnormal lung morphology, Recurrent pneumonia, Recurrent up...	ORPHA:60032
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Thrombocytopenia, Eosinophilia	OMIM:131400
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca...	ORPHA:79501
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Dpm3-Cdg	Muscular dystrophy, Calf muscle hypertrophy, Rimmed vacuoles, Dilated cardiomyopathy, Pelvic gird...	ORPHA:263494
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy	ORPHA:79281
Breast Cancer	Breast carcinoma	OMIM:114480
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr...	OMIM:255160
Xeroderma Pigmentosum, Complementation Group F	Keratoacanthoma, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Seborrheic ...	OMIM:278760
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas...	ORPHA:2302
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma	ORPHA:626
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Hypereosinophilic Syndrome, Idiopathic	Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple...	OMIM:607685
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Frontalis muscle weakness, Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Dil...	OMIM:300580
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper...	OMIM:115210
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Bladder Cancer	Bladder neoplasm, Transitional cell carcinoma of the bladder	OMIM:109800
Pyruvate Kinase Deficiency Of Red Cells	Jaundice, Hepatomegaly, Chronic hemolytic anemia, Cholelithiasis, Reduced red cell pyruvate kinas...	OMIM:266200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d...	OMIM:610476
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ...	OMIM:611556
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies	Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left...	OMIM:620236
Cardiomyopathy, Familial Hypertrophic, 7	Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio...	OMIM:613690
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Familial Dyskinesia And Facial Myokymia	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	ORPHA:324588
Infantile Myofibromatosis	Fibroma, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the skin, Neoplasm of the l...	ORPHA:2591
Myopathy, Autophagic Vacuolar, Infantile-Onset	Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy	OMIM:609500
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc...	OMIM:115200
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Myopathy, Distal, 4	Distal upper limb amyotrophy, Cardiomyopathy, Thenar muscle weakness, Skeletal muscle atrophy, Di...	OMIM:614065
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Roifman Syndrome	Postnatal growth retardation, Recurrent otitis media, Lymphadenopathy, Noncompaction cardiomyopat...	ORPHA:353298
Meige Disease	Angiosarcoma, Pleural effusion	ORPHA:90186
Adult-Onset Nemaline Myopathy	Type 1 muscle fiber predominance, Upper limb muscle weakness, Nemaline bodies, EMG: myopathic abn...	ORPHA:171442
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Tibial Muscular Dystrophy, Tardive	Muscular dystrophy, Tibialis anterior muscle atrophy, Rimmed vacuoles, Cardiomyopathy, EMG: myopa...	OMIM:600334
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R...	OMIM:619424
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E...	OMIM:611878
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Loeffler Endocarditis	Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard...	ORPHA:75566
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma	OMIM:615225
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613876
Gne Myopathy	Hip flexor weakness, Muscle fiber inclusion bodies, Lower limb amyotrophy, Rimmed vacuoles, Cardi...	ORPHA:602
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S...	ORPHA:300751
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Atrial Standstill 1	Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d...	OMIM:108770
Cutaneous Neuroendocrine Carcinoma	Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas...	ORPHA:79140
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Steroid-responsive anemia, Anemia	OMIM:618312
Acute Myelomonocytic Leukemia	Anemia, Leukocytosis, Thrombocytopenia, Weight loss, Eosinophilia	ORPHA:517
Roifman Syndrome	Postnatal growth retardation, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Noncompactio...	OMIM:616651
Cardiomyopathy, Familial Hypertrophic, 1	Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy	OMIM:192600
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Hepatomegaly, Iron deficiency anem...	OMIM:601859
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Testicular ne...	ORPHA:83469
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto...	OMIM:612124
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypospadias, Patent ductus arteriosus, Microtia, Proptosis, Broad skull, Microcephaly, Sh...	ORPHA:163979
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Yellow Nail Syndrome	Renal neoplasm, Pleuritis, Neoplasm of the lung, Sarcoma, Biliary tract neoplasm, Neoplasm, Bronc...	ORPHA:662
Hb Bart'S Hydrops Fetalis	Hydrops fetalis, Polyhydramnios, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemog...	ORPHA:163596
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Rimmed vacuoles, Card...	OMIM:301075
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular...	OMIM:608751
Muscular Dystrophy, Becker Type	Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG	OMIM:300376
Left Ventricular Noncompaction 1	Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri...	OMIM:604169
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Xeroderma Pigmentosum, Variant Type	Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:278750
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Splenomegaly, Increased circulating IgG level, Vasculitis, Nephritis...	OMIM:603909
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h...	ORPHA:98912
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Coronary Artery Disease, Autosomal Dominant 2	Hypertension, Sudden cardiac death, Myocardial infarction	OMIM:610947
Forsythe-Wakeling Syndrome	Low-set ears, Decreased body weight, Nephrotic syndrome, Frontal bossing, Microcephaly, Macrotia,...	OMIM:613606
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Laing Early-Onset Distal Myopathy	Weakness of orbicularis oculi muscle, EMG: myopathic abnormalities, Abnormal mitochondria in musc...	ORPHA:59135
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Congestive heart failure, Ragged-red muscle fibers, Hypertension, Hypertrophic cardiomyopathy, Di...	ORPHA:1349
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma	OMIM:614564
Werner Syndrome	Neoplasm of the oral cavity, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Aplasia/Hypopla...	ORPHA:902
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Cardiomyopathy, Arrhythmia	ORPHA:3222
Basal Cell Nevus Syndrome 2	Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas	OMIM:620343
Grange Syndrome	Hypertension, Ventricular septal defect, Aortic regurgitation	ORPHA:79094
Cinca Syndrome	Anemia, Lymphadenopathy, Proptosis, Leukocytosis, Hearing impairment, Frontal bossing, Growth del...	OMIM:607115
Danon Disease	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At...	OMIM:300257
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Cardiomyopathy, Familial Hypertrophic, 21	Atrial fibrillation, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Mitral valve prol...	OMIM:614676
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Ovarian Fibrothecoma	Fibrosarcoma, Ovarian fibroma, Pleural effusion, Abnormality of the ovary, Diffuse leiomyomatosis	ORPHA:314478
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy	OMIM:615981
Epidermodysplasia Verruciformis, Susceptibility To, 5	Verrucae, Squamous cell carcinoma of the skin	OMIM:618309
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Peripartum Cardiomyopathy	Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur...	ORPHA:563
Rhabdoid Tumor	Neoplasm of the central nervous system, Neoplasm of the liver, Renal neoplasm, Sarcoma	ORPHA:69077
Hemochromatosis, Type 2A	Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia	OMIM:602390
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Anemia, Hematuria, Patent ductus arteriosus, Increased mean corpuscular volume, Hypertension, Ven...	OMIM:617021
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Leuk...	ORPHA:824
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Beta-Thalassemia	Skin ulcer, Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, ...	ORPHA:848
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple exostoses	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple exostoses	OMIM:133700
Desmoid Tumor	Fibroma, Neoplasm of the skin, Intestinal polyposis, Desmoid tumors	ORPHA:873
Immunodeficiency 97 With Autoinflammation	Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased...	OMIM:619802
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ...	OMIM:612422
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Cardiomyopathy, Distal lower limb muscle weakness, Leg muscle stiffness	ORPHA:320360
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Increased circulating antibody level, Congenital agranulocytosis, Acute m...	OMIM:202700
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,...	OMIM:540000
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Familial Multinodular Goiter	Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p...	ORPHA:276399
Arterial Calcification, Generalized, Of Infancy, 2	Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten...	OMIM:614473
Mevalonic Aciduria	Triangular face, Low-set, posteriorly rotated ears, Microcephaly, Short stature, Dolichocephaly, ...	ORPHA:29
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Attenuated Familial Adenomatous Polyposis	Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c...	ORPHA:220460
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Flexion contracture, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Familial Adenomatous Polyposis 1	Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc...	OMIM:175100
Myopathy, Myofibrillar, 3	Muscle fiber splitting, Distal amyotrophy, Cardiomyopathy, Muscle fiber cytoplasmatic inclusion b...	OMIM:609200
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Gardner Syndrome	Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ...	ORPHA:79665
Distal Nebulin Myopathy	Ankle flexion contracture, Cardiomyopathy, EMG: myopathic abnormalities, Nemaline bodies, Weaknes...	ORPHA:399103
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Short stature, Thrombocytopenia, Abnormal hemoglobin, Coarse facial features, Abnormal ca...	ORPHA:3319
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Transaldolase Deficiency	Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Triangular face, Patent ductus arteriosus,...	OMIM:606003
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Abnormal circulating IgG level, Failure to thrive, Neutrophi...	OMIM:226990
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Muscular dystrophy, Cardiomyopathy, EMG: myopathic abnormalities, Increased variability in muscle...	OMIM:608807
Cardiomyopathy, Familial Hypertrophic, 18	Paroxysmal atrial fibrillation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial...	OMIM:613874
Cardiomyopathy, Dilated, 1S	Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec...	OMIM:613426
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	OMIM:609016
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Abnormality of thrombocytes, ...	OMIM:612840
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame...	OMIM:612999
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi...	ORPHA:45453
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter, Squamous cell carcinoma	OMIM:618373
Chromosome 15Q26-Qter Deletion Syndrome	Triangular face, Hypospadias, Low-set ears, Microcephaly, Short stature, Failure to thrive, Intra...	OMIM:612626
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Increased circulating antibody lev...	ORPHA:169154
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Carcinoma, Primary hyperparathyroidism, Carcinoid tumor, Pituitary ad...	OMIM:610755
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Flat occiput, Eosinophilia, Lymphopenia	ORPHA:2582
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ...	ORPHA:171445
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl...	OMIM:252011
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia	OMIM:606703
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Raynaud phenomenon	ORPHA:401945
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopath...	OMIM:613561
Distal Myotilinopathy	Distal amyotrophy, Cardiomyopathy, EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, ...	ORPHA:98911
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, EMG: myopathic abnormalities, Nemaline bodies, Limb muscle weakness, Arthrogryposis...	OMIM:161800
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Ethanolaminosis	Cardiomegaly	OMIM:227150
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Trichodiscom...	OMIM:135150
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Triangular face, Low-set ears, Leukocytosis, I...	OMIM:610377
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Hip contracture, Weakness of facial musculature, Dila...	OMIM:615959
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Chromomycosis	Abnormal lung morphology, Squamous cell carcinoma, Multiple cutaneous malignancies	ORPHA:182
Coccidioidomycosis	Pancreatitis, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circulating IgG level, Vasc...	ORPHA:228123
Immunodeficiency 15A	Recurrent otitis media, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4...	OMIM:618204
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Squamous cell carcinoma, Recurrent pneumonia, Recurrent sinusitis, Recurr...	OMIM:243700
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi...	OMIM:269840
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Pituitary Adenoma 1, Multiple Types	Hypertension, Cardiomyopathy, Left ventricular hypertrophy	OMIM:102200
Combined Immunodeficiency, X-Linked	Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell...	OMIM:312863
Familial Cervical Artery Dissection	Hypertension, Transient ischemic attack, Cerebral ischemia, Facial palsy, Recurrent cerebral hemo...	ORPHA:36382
X-Linked Sideroblastic Anemia	Anemia, Pallor, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Cranial hyperostosis, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Limb hyper...	OMIM:259720
Liddle Syndrome	Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper...	OMIM:618052
Lessel-Kubisch Syndrome	Hypertension	OMIM:618681
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr...	OMIM:310200
Atrial Standstill	Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu...	ORPHA:1344
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Gastric d...	ORPHA:157798
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Craniosynostosis, Increased circulating IgE level, Eosinophilia, Macroglo...	OMIM:618523
Morbid Obesity And Spermatogenic Failure	Congestive heart failure, Hypertension, Myocardial infarction	OMIM:615703
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Naxos Disease	Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ...	OMIM:601214
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Atrial septal defect, Prolonged QT interval, Noncompaction cardiomyopat...	OMIM:610198
Dominant Beta-Thalassemia	Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, High-output congestive heart fa...	ORPHA:231226
Juvenile Temporal Arteritis	Eosinophilia, Leukocytosis	ORPHA:26137
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Gaucher Disease, Perinatal Lethal	Short nose, Hepatomegaly, Anemia, Triangular face, Microtia, Low-set ears, Ascites, Decreased bod...	OMIM:608013
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Raynaud phenomenon, Achalasia	OMIM:615750
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Limb muscle weakness, Cardiomyopathy, Nemaline bodies, Global systolic dysfunction	OMIM:606842
Papillon-Lefèvre Syndrome	Neoplasm of the skin, Recurrent respiratory infections, Squamous cell carcinoma, Melanoma	ORPHA:678
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Microcephaly, Thrombocytopenia, Abnormality of the liver, Intrauterine growth retar...	ORPHA:1980
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to th...	OMIM:615387
Fanconi Anemia, Complementation Group P	Cryptorchidism, Squamous cell carcinoma	OMIM:613951
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Eosinophilia, Hypertelorism	OMIM:618092
Hereditary Spherocytosis	Jaundice, Skin ulcer, Hepatomegaly, Cholelithiasis, Anemia, Spontaneous hemolytic crises, Increas...	ORPHA:822
Mulibrey Nanism	Congestive heart failure, Hepatomegaly, Triangular face, Ascites, Pericardial constriction, Short...	OMIM:253250
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Reduced delayed hypersensitivity, Decreased proportion of CD8-positive T cells, Increased circula...	OMIM:617241
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage	ORPHA:280679
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Type 1 fibers relatively smaller than type 2 fibers, Centrally nucleated skeletal m...	OMIM:255310
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Increased endomysial connective tissue,...	OMIM:602541
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Mitochondrial Dna Depletion Syndrome 11	Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ...	OMIM:615084
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Postnatal growth retardation, Atrioventricular canal defect, Triangular face, Smal...	OMIM:613792
Immunodeficiency 88	Eosinophilia	OMIM:619630
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Calf muscle hypertrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopa...	OMIM:609308
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Secondary microcephaly, Triangular face, Intrauterine growth retardation, Frontal bossing, Abnorm...	ORPHA:231147
Legius Syndrome	Macrocephaly, Triangular face, Low-set ears, Supravalvar pulmonary stenosis, Posteriorly rotated ...	OMIM:611431
Congenital Toxoplasmosis	Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Ascites, Microcephaly, Hearing impairment, Throm...	ORPHA:858
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Beta-Thalassemia Major	Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume...	ORPHA:231214
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Alpha-B Crystallin-Related Late-Onset Myopathy	Accumulation of muscle fiber desmin, Muscle fiber inclusion bodies, Facial diplegia, Cardiomyopat...	ORPHA:399058
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the rectum, Neoplasm of the small intes...	ORPHA:44890
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 2	Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri...	OMIM:115195
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist...	OMIM:619566
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98855
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Generalized Eruptive Histiocytosis	Hypereosinophilia, Histiocytosis, Leukemia	ORPHA:157991
Immunodeficiency 53	Failure to thrive, Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Recu...	OMIM:617585
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Decreased circulating total IgM, Abnormal natural kill...	ORPHA:331206
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:617222
Fetal Parvovirus Syndrome	Hydrops fetalis, Anemia, Ascites, Hypertrophic cardiomyopathy, Increased nuchal translucency, Thr...	ORPHA:295
Beta-Thalassemia Intermedia	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy, Anemia of inadequate pro...	ORPHA:231222
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp...	OMIM:300696
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Increased circulating IgE level...	OMIM:304790
Short Stature, Microcephaly, And Endocrine Dysfunction	Long nose, Anemia, Unilateral renal agenesis, Ectopic kidney, Triangular face, Disproportionate s...	OMIM:616541
Pgm3-Cdg	Chronic otitis media, Decreased proportion of CD3-positive T cells, Sensorineural hearing impairm...	ORPHA:443811
Aicardi-Goutieres Syndrome 3	Progressive microcephaly, Thrombocytopenia, Death in childhood, Hepatosplenomegaly	OMIM:610329
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior...	ORPHA:98853
Dk1-Cdg	Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D...	ORPHA:91131
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Cryptorchidism, Myelodysplasia	OMIM:620365
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal aortic valve morphology, Vasculitis, Abnormal heart val...	ORPHA:3287
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ...	OMIM:608758
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion con...	ORPHA:272
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Parachute mitral valve, Macrocephaly, Mesenteric cyst, Hypospadias, Triangular face, ...	OMIM:618316
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Schimke Immunoosseous Dysplasia	Hypertension, Cerebral ischemia, Lymphopenia, Intrauterine growth retardation, Stage 5 chronic ki...	OMIM:242900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Calf muscle hypertrophy, Achilles tendon contracture, Thigh hypertrophy, Dila...	OMIM:607155
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca...	ORPHA:263297
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Failure to thrive secondary to recurrent infections, Increased circulating antibody level, Decrea...	ORPHA:169160
Silver-Russell Syndrome 4	Triangular face, Decreased body weight, Mild microcephaly, Birth length less than 3rd percentile,...	OMIM:618907
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Squamous cell carcinoma	OMIM:226600
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Triose Phosphate-Isomerase Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy	ORPHA:868
Bone Marrow Failure Syndrome 4	Anemia, Rhizomelia, Decreased circulating antibody level, Low-set ears, Microcephaly, Bone marrow...	OMIM:618116
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Cardiomyopathy, Microcephaly, Hearing impairment, Failure to thrive,...	ORPHA:67048
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Elevated left ventricular end-diastolic diameter, Dilated cardiomyopathy, Reduced left ventricula...	OMIM:620152
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Cernunnos-Xlf Deficiency	Bird-like facies, Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytope...	ORPHA:169079
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ragged-red muscle fibers, Generalized amyotrophy, Arrhythmia, Weakness of facial musculature, Dil...	ORPHA:352447
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Alazami Syndrome	Triangular face, Decreased body weight, Low-set ears, Microcephaly, Severe short stature, Deeply ...	OMIM:615071
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction	OMIM:604401
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Mitral valve prolapse	OMIM:173900
Breath-Holding Spells	Pallor, Iron deficiency anemia	OMIM:607578
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas...	ORPHA:1183
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Sensorineural hearing impairment, Amegakaryocytic thrombocytopenia	ORPHA:71289
Leishmaniasis	Skin ulcer, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Pancyt...	ORPHA:507
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Muscular dystrophy, Muscle eosinophilia, Myositis, Scapular winging, Facial palsy, Proximal amyot...	OMIM:253600
Weill-Marchesani Syndrome 1	Brachycephaly, Broad skull, Proportionate short stature, Pulmonic stenosis, Aortic valve stenosis...	OMIM:277600
Silver-Russell Syndrome 5	Triangular face, Relative macrocephaly, Intrauterine growth retardation, Birth length less than 3...	OMIM:618908
Congenital Disorder Of Glycosylation, Type Iik	Secondary microcephaly, Hepatomegaly, Hemolytic-uremic syndrome, Low-set ears, Short stature, Fai...	OMIM:614727
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long nose, Proptosis, T lymphocytopenia, Microcephaly, Mitral valve prolapse, Lymphopenia, Cranio...	ORPHA:508533
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Fatty replacement of skeletal muscle, Supraventricular tachycardia, Cardiomyopathy, Myopathy	OMIM:255100
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Sterile abscess, Increased circulating IgE level, Pulmonic stenosis, Eosi...	OMIM:618282
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Adrenocortical carcinoma	ORPHA:1501
Fanconi Anemia, Complementation Group I	Triangular face, Patent foramen ovale, Vesicoureteral reflux, Decreased body weight, Microcephaly...	OMIM:609053
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Reduced systolic function	OMIM:618805
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie...	OMIM:615952
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin	OMIM:620443
Al Kaissi Syndrome	Brachycephaly, Postnatal growth retardation, Triangular face, Torticollis, Decreased head circumf...	OMIM:617694
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Polyarteritis Nodosa	Pericarditis, Hypertension, Cardiomyopathy, Raynaud phenomenon	ORPHA:767
Myelofibrosis	Purpura, Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Pallor, Extra...	OMIM:254450
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, Cardiomyopathy, EMG: myopathic abnormalities, Myofib...	OMIM:609452
Vici Syndrome	Sensorineural hearing impairment, Cardiomyopathy, T lymphocytopenia, Microcephaly, Leukopenia, Ab...	OMIM:242840
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro...	OMIM:613873
Silver-Russell Syndrome Due To 11P15 Microduplication	Postnatal growth retardation, Triangular face, Relative macrocephaly, Severe intrauterine growth ...	ORPHA:231144
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Recurrent otitis media, Abnormal B cell morphology, Hypospadias, Decreased circulatin...	OMIM:616910
Pelger-Huet Anomaly	Macrocephaly, Giant platelets, Recurrent otitis media, Ventricular septal defect, Hyposegmentatio...	OMIM:169400
Pleuropulmonary Blastoma	Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma	OMIM:601200
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Aicardi Syndrome	Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Hemangioma, Recurrent pneumonia, Hepatoblas...	OMIM:304050
Fanconi Anemia, Complementation Group G	Anemia, Microcephaly, Growth delay, Thrombocytopenia, Leukemia, Neutropenia	OMIM:614082
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Postnatal growth retardation, Triangular face, Relative macrocephaly, Diastasis recti, Decreased ...	ORPHA:231140
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Weill-Marchesani Syndrome 2	Brachycephaly, Congestive heart failure, Flexion contracture of toe, Elbow flexion contracture, B...	OMIM:608328
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A...	ORPHA:2133
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Microcephaly, Thrombocytopenia, Splenomegaly, Intrauterine growth retardation, Hemo...	OMIM:615010
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Death in childhood, Pancytopenia, Progressive microcephaly, Low-set ears, Thrombocy...	OMIM:610333
Neonatal Lupus Erythematosus	Aplastic anemia, Heart block, Anemia, Prolonged QT interval, Hepatomegaly, Pancytopenia, Macrocep...	ORPHA:398124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis	OMIM:618120
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Progressive microcephaly, Decreased circulating antibody level, Death in infancy, Hypertelorism, ...	OMIM:617425
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly, Postnatal growth retardation, Short nose, Triangular face, Low-set ears, Microceph...	OMIM:615419
Arterial Calcification, Generalized, Of Infancy, 1	Congestive heart failure, Hypertension, Cardiomegaly, Dilated cardiomyopathy, Myocardial infarction	OMIM:208000
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular septal defect, Skeletal m...	OMIM:607598
Familial Cutaneous Collagenoma	Angina pectoris, Congestive heart failure, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Anemia, Sideroblastic, 1	Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of inadequate production,...	OMIM:300751
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Triangular face, Sensorineural hearing impairment, Low-set ears, Decreased body wei...	OMIM:618342
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Left ventricular dilatation, Dilated c...	OMIM:620300
Oncogenic Osteomalacia	Carcinoma, Neoplasm of head and neck, Giant cell tumor of bone, Neoplasm of the skeletal system, ...	ORPHA:352540
Kimura Disease	Follicular hyperplasia, Eosinophilia, Increased circulating IgE level, Lymphadenopathy	ORPHA:482
Congenital Myopathy 24	Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl...	OMIM:617336
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Panhypogammaglobulinemia, Aplasia of the thymus, B lymphocytopenia, Increased circu...	OMIM:602450
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Abnormality of the pancreas, Hepatomegaly, Abnormality of th...	ORPHA:400
Eosinophilic Gastroenteritis	Anemia, Ascites, Leukocytosis, Hematochezia, Weight loss, Eosinophilia	ORPHA:2070
16Q24.3 Microdeletion Syndrome	Chronic otitis media, Triangular face, Increased mean corpuscular volume, Long face, Biparietal n...	ORPHA:261250
17P11.2 Microduplication Syndrome	Triangular face, Low-set, posteriorly rotated ears, Microcephaly, Failure to thrive, Hearing impa...	ORPHA:1713
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Anemia, Increased mean corpuscular volum...	ORPHA:98870
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Lower limb amyotrophy, Calf muscle hypertrophy, Cardiomyopathy, Wrist flexion contracture, Upper ...	ORPHA:206549
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Fanconi Anemia, Complementation Group C	Anemia, Ectopic kidney, Triangular face, Pancytopenia, Small for gestational age, Reticulocytopen...	OMIM:227645
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ...	OMIM:178600
Alveolar Echinococcosis	Liver abscess, Anemia, Jaundice, Cholangitis, Abnormality of the diaphragm, Increased circulating...	ORPHA:284
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Death in infancy, Microcephaly, Joint contracture, Splenomegaly, Fl...	OMIM:608540
Hjv Or Hamp-Related Hemochromatosis	Dilated cardiomyopathy	ORPHA:79230
Sneddon Syndrome	Ischemic stroke, Hypertension, Facial palsy, Cerebral hemorrhage, Bicuspid aortic valve	OMIM:182410
Coproporphyria, Hereditary	Tachycardia, Hypertension	OMIM:121300
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Cardiomyopathy	OMIM:619651
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Immunodeficiency 52	Defective T cell proliferation, Death in childhood, Lymphadenopathy, Abnormal natural killer cell...	OMIM:617514
Eosinophilic Fasciitis	Myositis, Abnormal eosinophil morphology, Muscular edema, Weight loss, Eosinophilia	ORPHA:3165
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Goite...	OMIM:180295
Osteopetrosis, Autosomal Recessive 2	Cranial hyperostosis, Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Facial paralysi...	OMIM:259710
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Failure to thrive, Thrombocytopenia, Splenome...	ORPHA:79312
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Cardiomyopathy, Finger joint contracture, Telangiectasia of the skin, Dilated cardiomyopathy, Mit...	OMIM:212112
Polymyositis	Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc...	ORPHA:732
Congenital Macroglossia	Neurofibroma	ORPHA:2430
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Short nose, Triangular face, Patent foramen ovale, Round face, Low-...	ORPHA:369891
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac...	ORPHA:98826
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:615821
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ...	OMIM:613870
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia, Death in infancy	OMIM:619302
Primary Membranoproliferative Glomerulonephritis	Hypertension, Myocardial infarction	ORPHA:54370
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Recurrent pneumonia	OMIM:619750
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Short stature, Thrombocytop...	OMIM:607616
Tropical Endomyocardial Fibrosis	Left atrial enlargement, P pulmonale, Abnormal ST segment, Cachexia, Proptosis, Ascites, Splenome...	ORPHA:75565
Immunodeficiency 60 And Autoimmunity	Decreased basophil count, Decreased circulating total IgM, Decreased circulating IgE, Pancytopeni...	OMIM:618394
Sandhoff Disease	Congestive heart failure, Macrocephaly, Hepatomegaly, Hearing impairment, Failure to thrive, Sple...	ORPHA:796
Cardiomyopathy, Familial Hypertrophic, 26	Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br...	OMIM:617047
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Reticulocytosis, Short stature, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor, He...	OMIM:611590
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f...	ORPHA:66529
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Failure to th...	OMIM:603554
Lipodystrophy, Familial Partial, Type 4	Skeletal muscle hypertrophy, Hypertension	OMIM:613877
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteosarcoma, Fibrosarcoma, Histiocytoma	OMIM:112250
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Coenzyme Q10 Deficiency, Primary, 8	Hypertension, Flexion contracture, Left ventricular hypertrophy	OMIM:616733
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Congestive heart failure, Myocardial infarction, Hematuria, Myositis, Vasculitis, Hy...	ORPHA:183
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14	Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy, Limb-girdle muscle w...	OMIM:615352
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Myocardial eosinophilic infiltration, Splenomegaly, Cholangitis, Supraventricula...	ORPHA:3260
Elliptocytosis 1	Jaundice, Elliptocytosis, Splenomegaly, Pallor, Hemolytic anemia	OMIM:611804
Thiamine-Responsive Megaloblastic Anemia Syndrome	Megaloblastic anemia, Short stature, Pallor, Thrombocytopenia, Atrial septal defect, Ventricular ...	ORPHA:49827
9Q31.1Q31.3 Microdeletion Syndrome	Bicuspid aortic valve, Renovascular hypertension, Dilated cardiomyopathy, Aortic regurgitation	ORPHA:401923
12Q14 Microdeletion Syndrome	Triangular face, Ectopic kidney, Microcephaly, Renal hypoplasia, Frontal bossing, Short stature, ...	ORPHA:94063
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod...	ORPHA:733
Potocki-Lupski Syndrome	Triangular face, Patent foramen ovale, Trigonocephaly, Microcephaly, Hearing impairment, Failure ...	OMIM:610883
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Corneal neovascularization, Hepatomegaly, Increased circulating IgG ...	OMIM:617388
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Postnatal growth retardation, Juvenile myelomonocytic leukemia, Triangular face, Low-set ears, Ao...	OMIM:613563
Specific Granule Deficiency 2	Death in childhood, Anemia, Recurrent otitis media, Abnormal pinna morphology, Low-set ears, Deat...	OMIM:617475
Tuberous Sclerosis 2	Retinal hamartoma, Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependy...	OMIM:613254
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Left ventricular systolic dysfunction, Patent foramen ovale, Tricuspid regurgitation, Left ventri...	OMIM:619167
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Squamous cell carcinoma	OMIM:148210
Beemer Lethal Malformation Syndrome	Thrombocytopenia, Wide nasal bridge	OMIM:209970
Reticuloendotheliosis, X-Linked	Jaundice, Hepatosplenomegaly, Anemia	OMIM:312500
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy	OMIM:248360
Transaldolase Deficiency	Cirrhosis, Hydrops fetalis, Anemia, Premature skin wrinkling, Hepatosplenomegaly, Thrombocytopeni...	ORPHA:101028
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impairment, Microcephaly, Short stature, Th...	ORPHA:290
Atelis Syndrome 2	Protruding ear, Anemia, Triangular face, Long face, Low-set ears, Supravalvar pulmonary stenosis,...	OMIM:620185
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Generalized limb muscle atrophy, Pelvic girdle muscle weakness, Calf muscle pseudohypertrophy, Sc...	OMIM:608358
Osteopetrosis, Autosomal Recessive 8	Macrocephaly, Hepatomegaly, Anemia, Facial palsy, Frontal bossing, Failure to thrive, Thrombocyto...	OMIM:615085
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Lymphadenopathy, Lymphocytosis, Cardiac arrest, Hepatitis, Nephrotic syndrome, Weigh...	ORPHA:139402
Congenital Heart Block	Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, Patent ductus arte...	ORPHA:60041
Mosaic Variegated Aneuploidy Syndrome 2	Severe intrauterine growth retardation, Round ear, Microcephaly, Intrauterine growth retardation,...	OMIM:614114
Denys-Drash Syndrome	Hypertension	ORPHA:220
Noonan Syndrome 14	Triangular face, Aortic regurgitation, Scapular winging, Low-set ears, Hypertrophic cardiomyopath...	OMIM:619745
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Reticulocyt...	ORPHA:300298
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Nephrotic syndrome, Failure to thrive, Short stature, Hepatosple...	OMIM:618999
Hemophagocytic Lymphohistiocytosis, Familial, 4	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Evans Syndrome	Autoimmune hemolytic anemia, Jaundice, Petechiae, Neutropenia in presence of anti-neutropil antib...	ORPHA:1959
Aorta Coarctation	Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at...	ORPHA:1457
Long-Olsen-Distelmaier Syndrome	Congestive heart failure, Secundum atrial septal defect, Severely reduced left ventricular ejecti...	OMIM:620609
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormal mitral valve morphology, Hypertension	ORPHA:1192
Syngap1-Related Developmental And Epileptic Encephalopathy	Triangular face, Hypospadias, Long face, Anteverted ears, Microcephaly, Abnormal facial shape, Ma...	ORPHA:544254
Hennekam-Beemer Syndrome	Long nose, Triangular face, Microtia, Proptosis, Hypotension, Mastocytosis, Microcephaly, Camptod...	ORPHA:2135
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Flat occiput, Hypotelorism, Aortic regurgitation, Microcephal...	OMIM:603585
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Cold Agglutinin Disease	Pallor, Hepatomegaly, Splenomegaly, Hemolytic anemia	ORPHA:56425
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Abnormal B ce...	OMIM:618223
Infantile Sialic Acid Storage Disease	Congestive heart failure, Hepatomegaly, Death in childhood, Vacuolated lymphocytes, Ascites, Neph...	OMIM:269920
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 23	Increased circulating IgG level, Sensorineural hearing impairment, Increased circulating IgE leve...	OMIM:615816
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Bloom Syndrome	Squamous cell carcinoma, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, ...	OMIM:210900
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Pulmonic stenosis, Microcephaly, Leukopenia, Intrauterine growth retardation, Craniosynostosis, H...	OMIM:301056
Senior-Loken Syndrome	Hypertension	ORPHA:3156
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Familial Partial Lipodystrophy, Köbberling Type	Hypertension	ORPHA:79084
Autoimmune Lymphoproliferative Syndrome	Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity...	ORPHA:3261
Sneddon Syndrome	Hypertension, Intracranial hemorrhage	ORPHA:820
Stuve-Wiedemann Syndrome 2	Stillbirth, Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Camp...	OMIM:619751
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	OMIM:278740
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Kbg Syndrome	Triangular face, Round face, Bilateral conductive hearing impairment, Microcephaly, Macrotia, Con...	ORPHA:2332
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Thrombocytopenia, Leukop...	ORPHA:108
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Hereditary Folate Malabsorption	Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Failure to thrive, Thro...	ORPHA:90045
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Microcephaly, Bone marrow hypocellularity, Leukopenia, Splenomegaly, Neutropenia...	OMIM:617303
Pseudoxanthoma Elasticum	Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,...	OMIM:264800
Lipodystrophy, Familial Partial, Type 6	Muscular dystrophy, Hypertension, Skeletal muscle atrophy, Myopathy, Lower limb muscle weakness	OMIM:615980
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Brachycephaly, Plagiocephaly, Triangular face, Facial hypotonia, Cachexia, Low-set ears, Microcep...	OMIM:616801
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension	OMIM:600666
Immunodeficiency 25	Autoimmune hemolytic anemia, Increased circulating IgG level, Complete or near-complete absence o...	OMIM:610163
Distal Deletion 10Q	Facial diplegia, Proptosis, Cochlear malformation, Microcephaly, Congenital sensorineural hearing...	ORPHA:96148
Nabais Sa-De Vries Syndrome, Type 2	Triangular face, Microtia, Low-set ears, Frontal bossing, Posteriorly rotated ears, Protruding ea...	OMIM:618829
Hyperaldosteronism, Familial, Type I	Hypertension	OMIM:103900
Plin1-Related Familial Partial Lipodystrophy	Calf muscle hypertrophy, Hypertension	ORPHA:280356
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Carcinoma, Decreased testicular size, Laryngeal carcinoma	OMIM:610644
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu...	OMIM:620519
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Hydrops fetalis, Anemia, Chronic hemolytic anemia, Reduced red cell pyruvate kinase level, Reticu...	ORPHA:766
Bone Marrow Failure Syndrome 2	Anemia, Microcephaly, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:615715
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Sensorineural hearing impairment, Pulmonic stenosis, Microcephaly, Leukopenia, ...	OMIM:612541
Cowden Syndrome 1	Carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Transitional cell carcinoma of th...	OMIM:158350
Amyloidosis, Familial Visceral	Hypertension	OMIM:105200
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Chromosome 10Q26 Deletion Syndrome	Postnatal growth retardation, Protruding ear, Triangular face, Sensorineural hearing impairment, ...	OMIM:609625
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia, Death in infancy	OMIM:619301
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Trichothiodystrophy 1, Photosensitive	Basal cell carcinoma, Squamous cell carcinoma	OMIM:601675
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Sensorineural hearing impairment, Cardiomyopathy, Short stature, Siderobl...	OMIM:249270
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection...	ORPHA:85451
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Short stature, Eosinophilia, Increased circulating IgE level	OMIM:620532
Acute Peripheral Arterial Occlusion	Pallor, Leukocytosis	ORPHA:90064
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Postnatal growth retardation, Macrocephaly, Triangular face, Unilateral renal agen...	OMIM:619504
Congenital Atransferrinemia	Anemia, Abnormality of the pancreas	ORPHA:1195
Fetal Gaucher Disease	Stillbirth, Hepatomegaly, Low-set, posteriorly rotated ears, Pancytopenia, Death in infancy, Neon...	ORPHA:85212
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys...	ORPHA:71505
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Decreased ...	OMIM:102700
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:611126
Xeroderma Pigmentosum, Complementation Group C	Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis	OMIM:278720
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphedema, Myeloproliferative disorder,...	ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope...	OMIM:308240
Atelis Syndrome 1	Anemia, Long face, Microtia, Thrombocytopenia, Leukopenia, Atrial septal defect, Ventricular sept...	OMIM:620184
Andersen-Tawil Syndrome	Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave, Premature ventricul...	ORPHA:37553
Propionic Acidemia	Cardiomyopathy, Arrhythmia	ORPHA:35
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Potocki-Shaffer Syndrome	Hypertension	ORPHA:52022
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Congestive heart failure, Portal hypertension, Skeletal muscle atrophy, Abnormal cardiomyocyte mo...	ORPHA:367
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:231530
3-Hydroxyisobutyric Aciduria	Microcephaly, Microtia, Triangular face, Intrauterine growth retardation	ORPHA:939
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Mult...	OMIM:150800
Codas Syndrome	Atrioventricular canal defect, Sensorineural hearing impairment, Broad skull, Short stature, Crum...	OMIM:600373
Congenital Syphilis	Myocarditis, Anemia, Pancreatitis, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundi...	ORPHA:499009
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Neurofibroma	Spinal meningioma, Peripheral schwannoma, Spinal neurofibroma, Palmar neurofibroma, Neoplasm of t...	ORPHA:252183
Short Stature, Brussels Type	Macrocephaly, Triangular face, Abnormal facial shape, Growth delay, Short stature, Horseshoe kidney	ORPHA:2867
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Aortic Arch Interruption	Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor...	ORPHA:2299
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Death in childhood, D...	OMIM:619644
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Microcephaly, Bone marrow hypocellularity, Short stature, Dolicho...	OMIM:619151
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Brachycephaly, Plagiocephaly, Transposition of the great arteries, Triangular face, Patent forame...	OMIM:616789
Oculocutaneous Albinism Type 1B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:79434
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Dilated cardiomyopathy, Hypertension, Abnormal left ventricle morphology, Cerebral hemorrhage	OMIM:300845
Immunodeficiency 104	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Failure to thrive secondary to recurrent i...	OMIM:608971
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Degcags Syndrome	Sensorineural hearing impairment, Abnormal spleen morphology, Cholestasis, Proptosis, Pulmonic st...	OMIM:619488
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Homocystinuria, Pulmonary arterial hypertension, Growth delay, Failure to th...	OMIM:614857
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Splenomegaly, Lymphopenia, ...	ORPHA:444463
Congenital Bile Acid Synthesis Defect Type 2	Postnatal growth retardation, Jaundice, Giant cell hepatitis, Hepatomegaly, Cholestasis, Renal cy...	ORPHA:79303
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Hepatomegaly, Anemia, Cholestasis, Ascites, Camptodacty...	OMIM:608104
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Failure to thrive, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Muir-Torre Syndrome	Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be...	OMIM:158320
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Decreased circulating antibody level, Abnormal natural...	OMIM:613101
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension	OMIM:616069
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Epistaxis	ORPHA:721
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities	Triangular face, Low-set ears, Microcephaly, Intrauterine growth retardation, Craniosynostosis, C...	OMIM:620428
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Hepatocellular carcinoma	ORPHA:882
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Increased circulating IgE level, Leukocytosis, Weight loss	ORPHA:2902
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia, Rhizomelia, Hypertrophic cardiomyopathy, Severe short-limb dwarfism, Fronta...	ORPHA:1842
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, P...	ORPHA:98850
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Squamous cell carcinoma, Carcinoma, Oropharyngeal squamous cell carcinoma...	OMIM:305000
Pancreatic And Cerebellar Agenesis	Anemia, Triangular face, Abnormal pinna morphology, Pancreatic hypoplasia, Low-set ears, Severe i...	OMIM:609069
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Plagiocephaly, Severe failure to thrive, Triangular face, Low-set, posteriorly rotated ears, Cach...	ORPHA:371364
Indomethacin Embryofetopathy	Atrial septal defect, Ventricular septal defect, Cardiomyopathy	ORPHA:1909
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Short stature, Failure to thrive, Thrombocytopenia, Splenomegaly, Diffuse a...	OMIM:616050
Barth Syndrome	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Skeletal myopathy...	OMIM:302060
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Aspergillosis	Increased circulating IgE level, Intracranial hemorrhage, Eosinophilia, Hepatitis, Neutropenia	ORPHA:1163
Pseudo-Torch Syndrome 3	Acute kidney injury, Anemia, Hypertension, Leukocytosis, Lymphadenitis, Death in infancy, Protein...	OMIM:618886
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Hypochromia, Anemia, Decreased mean corpuscular volume	OMIM:205950
Noonan Syndrome 12	Tetralogy of Fallot, Thrombocytopenia, Lymphopenia, Ventricular septal defect, Supravalvular aort...	OMIM:618624
Congenital Disorder Of Glycosylation, Type Iig	Progressive microcephaly, Microtia, Proptosis, Microcephaly, Left ventricular hypertrophy, Intrau...	OMIM:611209
Eosinophilopenia	Decreased eosinophil count	OMIM:131430
Congenital Myopathy 19	Triangular face, Facial hypotonia, Low-set ears, Congenital contracture, Hearing impairment, Hydr...	OMIM:618578
Glutaric Aciduria Iii	Hypertension	OMIM:231690
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	Postnatal growth retardation, Triangular face, Relative macrocephaly, Short stature, Frontal boss...	ORPHA:231137
Alfadhel Syndrome	Triangular face, Low-set ears, Microcephaly, Short stature, Hypertelorism, Horseshoe kidney	OMIM:620655
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemi...	OMIM:616860
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle...	ORPHA:86812
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Lipoma, Pilomatrixoma, Adenocarcinoma of the colon, Embryonal rhabdomyosarcoma, Multinodular goit...	OMIM:620189
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Systemic Lupus Erythematosus 17	Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th...	OMIM:301080
Lymphedema-Distichiasis Syndrome	Fibrosarcoma, Abnormality of the pulmonary vasculature	ORPHA:33001
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Noonan Syndrome With Multiple Lentigines	Sensorineural hearing impairment, Pulmonic stenosis, Abnormal mitral valve morphology, Arrhythmia...	ORPHA:500
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating IgE, Pancytopenia, Prominent stem of antihelix, B lymphocytopenia, ...	OMIM:619824
Peroxisome Biogenesis Disorder 12A (Zellweger)	Triangular face, Cholelithiasis, Cranial asymmetry, Decreased body weight, Microcephaly, Short st...	OMIM:614886
Insulin-Like Growth Factor I, Resistance To	Triangular face, Patent foramen ovale, Low-set ears, Decreased body weight, Microcephaly, Abnorma...	OMIM:270450
Attrv30M Amyloidosis	Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia	ORPHA:85447
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,...	OMIM:276300
Esophagitis, Eosinophilic, 2	Eosinophilia, Failure to thrive	OMIM:613412
Esophagitis, Eosinophilic, 1	Eosinophilia, Failure to thrive	OMIM:610247
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Short nose, Macrocephaly, Triangular face, Congenital muscular torticollis, Long f...	ORPHA:457279
Lethal Infantile Mitochondrial Myopathy	Cardiomyopathy	ORPHA:254857
Sotos Syndrome	Macrocephaly, Muscular ventricular septal defect, Triangular face, Long face, Increased body weig...	OMIM:117550
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Increased circula...	ORPHA:3392
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Tarp Syndrome	Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Small earlobe, Prominent antihe...	ORPHA:2886
Pseudohypoaldosteronism, Type Iib	Hypertension	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension	OMIM:614495
Silver-Russell Syndrome 3	Postnatal growth retardation, Triangular face, Penoscrotal hypospadias, Relative macrocephaly, Lo...	OMIM:616489
Liddle Syndrome 2	Hypertension	OMIM:618114
Liddle Syndrome 3	Hypertension	OMIM:618126
Phosphoglycerate Dehydrogenase Deficiency	Growth delay, Primary microcephaly, Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia	ORPHA:2134
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Cardiomyopathy, Familial Hypertrophic, 4	Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef...	OMIM:115197
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:617068
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Failure to thrive, Hepatosplenomegaly, Sple...	OMIM:618963
X-Linked Hypohidrotic Ectodermal Dysplasia	Hypertension	ORPHA:181
Prolidase Deficiency	Short nose, Diffuse telangiectasia, Anemia, Hepatomegaly, Increased circulating antibody level, P...	OMIM:170100
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, EMG: myopathic abnormalities, Hypertrophic cardi...	ORPHA:99901
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Intrahepatic biliary atresia, Hepatic melanin-like lysosomal pigmentat...	OMIM:208085
Diffuse Neonatal Hemangiomatosis	Hydrops fetalis, Polyhydramnios, Anemia, Hepatomegaly, Ascites, Thrombocytopenia, Patent ductus a...	ORPHA:2123
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr...	ORPHA:251274
Neurofibromatosis, Type I	Rhabdomyosarcoma, Spinal neurofibroma, Pheochromocytoma, Astrocytoma, Plexiform neurofibroma, Opt...	OMIM:162200
Wells Syndrome	Eosinophilia	ORPHA:901
Idiopathic Non-Lupus Full-House Nephropathy	Hypertension	ORPHA:567544
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Decreased circulating a...	ORPHA:2585
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Chronic otitis media, Craniosynostosis, Increased circulating IgE level, Eosinophilia, Deeply set...	ORPHA:2314
Nephronophthisis 18	Hypertension	OMIM:615862
Noonan Syndrome 4	Large for gestational age, Ureteral duplication, Macrocephaly, Low-set ears, Hypertrophic cardiom...	OMIM:610733
Rothmund-Thomson Syndrome Type 1	Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Melanoma, Myelodysplasia, Os...	ORPHA:221008
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level, Upper limb muscle weakness, Hand muscle weakness, Intrinsic...	ORPHA:99965
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Hematuria, Reticulocytosis, Arrhythmia, Thrombocytopenia, Proteinuria, Micro...	ORPHA:54057
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi...	ORPHA:90065
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Cardiomyopathy, Thrombocytopenia, Leukopen...	ORPHA:27
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Anemia, Hypospadias, Small for gestational age, Hypertr...	OMIM:620135
Fgfr2-Related Bent Bone Dysplasia	Low-set ears, Coronal craniosynostosis, Decreased calvarial ossification, Hypertelorism, Hepatosp...	ORPHA:313855
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Hepatosplenomegaly, Anemia	OMIM:273680
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis	OMIM:616176
Peeling Skin Syndrome 1	Short stature, Eosinophilia, Increased circulating IgE level	OMIM:270300
Wiskott-Aldrich Syndrome	Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,...	OMIM:301000
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L...	OMIM:615474
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	OMIM:202110
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Sengers Syndrome	3-Methylglutaconic aciduria, Cardiac arrest, Pulmonary arterial hypertension, Hypertrophic cardio...	OMIM:212350
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Decreased specific anti-polysaccharide antibody level, Unilateral renal ...	OMIM:614576
Corticosteroid-Binding Globulin Deficiency	Hypertension, Hypotension	OMIM:611489
Familial Adenomatous Polyposis 3	Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl...	OMIM:616415
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Short stature, Pallor	ORPHA:2786
Alazami Syndrome	Postnatal growth retardation, Triangular face, Low-set ears, Mild microcephaly, Atrial septal def...	ORPHA:319671
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Triangular face, Limb hypertonia, Progressive microcephaly, Low-set ears, Abnormal facial shape, ...	ORPHA:481152
Noonan Syndrome	Sensorineural hearing impairment, Abnormal platelet function, Proptosis, Arrhythmia, Thickened he...	ORPHA:648
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Sensorineural hearing impairment, C...	OMIM:256550
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Neoplasm	OMIM:610651
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly	OMIM:269600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Delayed puberty, Growth delay, Hypochromic anemia, Sideroblastic anemia, Microcytic anemia, Eryth...	OMIM:600462
Transcobalamin Deficiency	Acute kidney injury, Pancytopenia, Decreased circulating antibody level, Decreased circulating Ig...	ORPHA:859
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope...	ORPHA:508542
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Cardiom...	OMIM:613313
American Trypanosomiasis	Myocarditis, Hepatomegaly, Cardiomyopathy, Splenomegaly, Periorbital edema, Edema, Pallor	ORPHA:3386
Icf Syndrome	Abnormality of neutrophils, Macrocephaly, Anemia, Decreased circulating antibody level, Low-set e...	ORPHA:2268
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia	OMIM:620534
Cardiomyopathy, Familial Restrictive, 6	Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation	OMIM:619433
Squamous Cell Carcinoma Of The Anal Canal	Rectal prolapse, Anal stenosis, Anal canal squamous cell carcinoma, Neoplasm of the rectum, Neopl...	ORPHA:424019
Isolated Atp Synthase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:254913
Rothmund-Thomson Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Melanoma, Myelodysplasia, Le...	ORPHA:2909
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Anemia, Hypochromic microcytic anemia, Howell-Jolly bodies, Poikilocytosis, Sideroblastic anemia,...	OMIM:301310
Rothmund-Thomson Syndrome Type 2	Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Lymphoma, Melanoma, Myelodys...	ORPHA:221016
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Secondary microcephaly, Postnatal growth retardation, Long nose, Triangular face, Long face, Pate...	OMIM:620113
Mulchandani-Bhoj-Conlin Syndrome	Triangular face, Failure to thrive, Dolichocephaly, Posteriorly rotated ears, Severe short statur...	OMIM:617352
Duchenne Muscular Dystrophy	Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy	ORPHA:98896
Ganglioneuroma	Gastrointestinal hemorrhage, Hypertension	ORPHA:251992
Naxos Disease	Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ...	ORPHA:34217
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Focal pancreatic...	ORPHA:276575
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Short Stature, Dauber-Argente Type	Microcephaly, Postnatal growth retardation, Triangular face, Short stature	OMIM:619489
Propionic Acidemia	Cerebellar hemorrhage, Increased level of hippuric acid in urine, Anemia, Pancreatitis, Hepatomeg...	OMIM:606054
Mcleod Syndrome	Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis, Dilated cardiomyopathy, Myopathy	OMIM:300842
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Camptodactyly, Microcephaly, Macrotia, Growth delay, Thrombocytopen...	OMIM:619980
Malaria	Acute kidney injury, Thrombocytopenia, Anemia	ORPHA:673
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy	ORPHA:276556
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Thrombocytopenia-Absent Radius Syndrome	Brachycephaly, Ureteral duplication, Anemia, Atrioventricular canal defect, Vesicoureteral reflux...	OMIM:274000
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Death in childhood, Lymphadenopathy, Recur...	OMIM:619220
Riboflavin Transporter Deficiency	Hypertension, Facial palsy, Skeletal muscle atrophy, Limb muscle weakness	ORPHA:97229
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Diffuse leiomyomatosis, Aspiration pneumonia, Vaginal neoplasm, Tra...	ORPHA:1018
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome	Long nose, Triangular face, Long face, Microcephaly, Abnormal facial shape, Short stature, Skelet...	ORPHA:85329
Lipodystrophy, Familial Partial, Type 1	Hypertension	OMIM:608600
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Squamous cell carcinoma	ORPHA:89842
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Splenomegaly, He...	OMIM:614470
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Neutropen...	OMIM:557000
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension	OMIM:201910
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Immunodeficiency 114, Folate-Responsive	Postnatal growth retardation, Hepatomegaly, Megaloblastic anemia, Increased circulating IgE level...	OMIM:620603
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Rhabdomyolysis, Arrhythmia, Dilated cardiomyopathy, Myopathy	OMIM:609015
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia, Triangular face, Hypertension, Proptosis, Proteinuria, Stage 5 c...	OMIM:166300
Anemia, Congenital Dyserythropoietic, Type Iv	Hydrops fetalis, Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Hyper...	OMIM:613673
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171420
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Ascites, Growth delay, Splenomegaly	ORPHA:100025
Leukodystrophy, Hypomyelinating, 10	Secondary microcephaly, Short nose, Triangular face, Low-set ears, Hearing impairment, Failure to...	OMIM:616420
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
X-Linked Mandibulofacial Dysostosis	Protruding ear, Triangular face, Low-set, posteriorly rotated ears, Sensorineural hearing impairm...	ORPHA:1131
Liver Disease, Severe Congenital	Macrocephaly at birth, Left atrial enlargement, Lymphocytosis, Proptosis, Ascites, Biliary hyperp...	OMIM:619991
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Ventricular tachycardia, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Liddle Syndrome 1	Hypertension	OMIM:177200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Muscular dystrophy, Calf muscle hypertrophy, Facial palsy, Cardiomyopathy, Flexion contracture, M...	OMIM:613155
Alagille Syndrome 2	Pulmonic stenosis, Atrial septal defect, Hypertension, Tetralogy of Fallot	OMIM:610205
Schimke Immuno-Osseous Dysplasia	Hypertension, Cerebral ischemia, Bone marrow hypocellularity, Lymphopenia, Intrauterine growth re...	ORPHA:1830
Methanol Poisoning	Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Cerebral hemorrhage, Intr...	ORPHA:31825
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Hepatosplenomegaly, Cardiomegaly, Pallor	ORPHA:99931
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Pallor, Neutropenia	OMIM:246400
Igg4-Related Aortitis	Increased circulating antibody level, Increased circulating IgE level, Hydronephrosis, Increased ...	ORPHA:449400
Arthrogryposis, Distal, Type 5	Triangular face, Firm muscles, Congenital finger flexion contractures, Short stature, Decreased m...	OMIM:108145
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hypertension	OMIM:618061
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri...	ORPHA:26793
20Q13.33 Microdeletion Syndrome	Triangular face, Hypospadias, Low-set, posteriorly rotated ears, Facial hypotonia, Abnormal cardi...	ORPHA:261311
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Iron deficiency anemia, Sensorineural hearing impairment, Low-set ears, Decreased b...	OMIM:607906
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert...	OMIM:616501
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Mediastinal lympha...	OMIM:300853
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Cardiomyopathy, Increased variability in muscle fiber diameter, Pelvic g...	ORPHA:119
Non-Involuting Congenital Hemangioma	Congestive heart failure, Hepatic hemangioma, Thrombocytopenia, Telangiectasia of the skin	ORPHA:141179
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce...	OMIM:619130
Familial Isolated Restrictive Cardiomyopathy	Left atrial enlargement, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitatio...	ORPHA:75249
Felty Syndrome	Chronic otitis media, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Peri...	ORPHA:47612
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Dilated cardiomyopathy, Hypertrophic cardiomyopathy	OMIM:614299
Intellectual Developmental Disorder With Neuropsychiatric Features	Hypertelorism, Triangular face	OMIM:617532
Immunodeficiency 46	Anemia, Decreased circulating antibody level, Failure to thrive, Intermittent thrombocytopenia, N...	OMIM:616740
Rothmund-Thomson Syndrome, Type 2	Basal cell carcinoma, Annular pancreas, Squamous cell carcinoma, Osteosarcoma, Cryptorchidism	OMIM:268400
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Underdeveloped tragus, Pulmonic stenosis, Leukopenia, Lymphopenia, Bicus...	OMIM:620654
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Sensorineural hearing impairment, Retinal hemorrhage, Microcephal...	ORPHA:294
Pseudohypoaldosteronism, Type Iie	Hypertension	OMIM:614496
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Neurofibromatosis, Type Iii, Mixed Central And Peripheral	Palmar neurofibroma, Meningioma, Lisch nodules, Paraspinal neurofibroma, Bilateral vestibular sch...	OMIM:162260
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy	OMIM:613752
Familial Cerebral Saccular Aneurysm	Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage	ORPHA:231160
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Stiff-Person Syndrome	Proximal limb muscle stiffness, Asymmetric limb muscle stiffness, Hypertension, Axial muscle stif...	OMIM:184850
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 115 With Autoinflammation	Postnatal growth retardation, Intestinal lymphangiectasia, Anemia, Partial absence of specific an...	OMIM:620632
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Sensorineural hearing impairment, Megaloblastic anemia, Sideroblastic anemia, Hydron...	OMIM:598500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Hepatomegaly, Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy	ORPHA:276580
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Pediatric-Onset Graves Disease	Congestive heart failure, Jaundice, Hepatomegaly, Craniosynostosis, Atrial fibrillation, Neutrope...	ORPHA:525731
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Growth delay, Thrombocytopenia, Renal insufficie...	ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iic	Recurrent otitis media, Reduction of neutrophil motility, Microcephaly, Short stature, Neutrophil...	OMIM:266265
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Facial palsy, Hearing impairment, Bone marrow hypoc...	OMIM:616435
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb	Spinal neurofibroma, Plexiform neurofibroma, Optic nerve glioma, Neurofibroma, Subcutaneous neuro...	OMIM:613675
Collagenoma, Familial Cutaneous	Congestive heart failure, Right ventricular cardiomyopathy, Atrial fibrillation, Vasculitis, Card...	OMIM:115250
Silver-Russell Syndrome 2	Triangular face, Relative macrocephaly, Short stature, Frontal bossing, Intrauterine growth retar...	OMIM:618905
Neurofibromatosis, Familial Spinal	Spinal neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Neurofibr...	OMIM:162210
Narcolepsy Type 1	Syncope, Hypertension	ORPHA:2073
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Brachycephaly, Triangular face, Biparietal narrowing, Microcephaly, Frontal bossing, Abnormal mit...	ORPHA:1292
Anemia, Congenital Dyserythropoietic, Type Ia	Hydrops fetalis, Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate producti...	OMIM:224120
Coach Syndrome 2	Hypertension	OMIM:619111
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Orthostatic hypotension, Macrocytic anemia, Hypotension, Failure to thrive, We...	ORPHA:199299
Three M Syndrome 3	Triangular face, Decreased body weight, Microcephaly, Frontal bossing, Short stature, Dolichoceph...	OMIM:614205
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Heart murmur, Double out...	ORPHA:2326
20Q11.2 Microduplication Syndrome	Brachycephaly, Short nose, Triangular face, Low-set, posteriorly rotated ears, Microtia, Severe i...	ORPHA:363659
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Panhypogammaglo...	ORPHA:79124
Mu-Heavy Chain Disease	Hepatomegaly, Bence Jones Proteinuria, Anemia, Lymphadenopathy, Increased circulating antibody le...	ORPHA:100024
Rapidly Involuting Congenital Hemangioma	Congestive heart failure, Hepatic hemangioma, Thrombocytopenia, Telangiectasia of the skin	ORPHA:141184
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Hydrocephalus, Cardiomegaly	OMIM:300886
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ...	ORPHA:99818
Familial Bicuspid Aortic Valve	Aortic regurgitation, Abnormal left ventricular outflow tract morphology, Aortic valve calcificat...	ORPHA:402075
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Cholestasis, Leukocytosis, Neutrophilia, Eosinophilia, Renal insufficiency, Neut...	ORPHA:293173
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Hepatic fibrosis, Microcephaly, Bone marrow hypocellularity, Short...	OMIM:613989
Cutis Laxa, Autosomal Recessive, Type Iib	Triangular face, Hypotelorism, Microcephaly, Frontal bossing, Failure to thrive, Decreased muscle...	OMIM:612940
Nephronophthisis 2	Situs inversus totalis, Pulmonary insufficiency, Hypertension	OMIM:602088
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Abdominal Obesity-Metabolic Syndrome 4	Hypertension, Myocardial infarction	OMIM:618620
Mucoepithelial Dysplasia, Hereditary	Corneal neovascularization, Hematuria, Melena, Hearing impairment, Eosinophilia, Cor pulmonale	OMIM:158310
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Short nose, Hypospadias, Flat face, Small for gestational age, Low-set ears, Ascit...	OMIM:616897
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Triangular face, Accessory spleen, Prominent occiput, Low-se...	OMIM:164280
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina...	OMIM:618534
Kid Syndrome	Neoplasm of the tongue, Neoplasm of the skin, Squamous cell carcinoma, Trichilemmoma	ORPHA:477
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Nephrotic syndrome, Thrombocytopenia, Proteinuria...	OMIM:615008
Maternal Uniparental Disomy Of Chromosome 6	Intrauterine growth retardation, Triangular face, Miscarriage, Thrombocytopenia	ORPHA:96181
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Macrotia, Deeply set eye, Triangular face, Congenital finger flexion contractures	ORPHA:1154
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Postnatal growth retardation, Long nose, Triangular face, Hypospadias, Bicoronal synostosis, Long...	OMIM:619184
Hereditary Acrokeratotic Poikiloderma	Transitional cell carcinoma of the bladder, Squamous cell carcinoma	ORPHA:2907
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Sensorineural hearing impairment, Thrombocytopenia, Hepatosplenomegaly, Congenital thromb...	OMIM:616738
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Lig4 Syndrome	Brachycephaly, Hypotelorism, Pancytopenia, Microcephaly, Failure to thrive, Acute lymphoblastic l...	OMIM:606593
Selective Igm Deficiency	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Lymphadenopathy, D...	ORPHA:331235
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Microcephaly, Failure to thrive, Thrombocytopenia, Intrauterine growth retard...	OMIM:615597
Immunodeficiency 27A	Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM...	OMIM:209950
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Generalized lymphadenopat...	OMIM:615559
Osteopetrosis, Autosomal Recessive 3	Cranial hyperostosis, Anemia, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis, E...	OMIM:259730
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced...	OMIM:618462
Tuberous Sclerosis 1	Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependymal nodules, Gingiv...	OMIM:191100
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
Essential Thrombocythemia	Acute leukemia, Thrombocytosis, Transient ischemic attack, Leukocytosis, Abnormal platelet morpho...	ORPHA:3318
Pseudo-Torch Syndrome 1	Hepatomegaly, Jaundice, Patent foramen ovale, Low-set ears, Microcephaly, Failure to thrive, Thro...	OMIM:251290
Fabry Disease	Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien...	OMIM:301500
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Familial Hyperaldosteronism Type Ii	Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:404
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Macrocephaly, Triangular face, Joint contracture of the 5th finger, Low-set ears, Microcephaly, F...	OMIM:620098
Distal Deletion 15Q	Congenital diaphragmatic hernia, Microcephaly, Double outlet right ventricle with doubly committe...	ORPHA:1596
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Recurrent otitis media, Coarse facial features, Low...	OMIM:608233
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Distal Duplication 18Q	Short nose, Triangular face, Low-set, posteriorly rotated ears, Hypoplasia of penis, Round face, ...	ORPHA:1716
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Normochromic anemia, Microtia, Macrocytic dyserythropoietic a...	ORPHA:124
Autosomal Erythropoietic Protoporphyria	Decreased liver function, Cirrhosis, Cholelithiasis, Edema, Microcytic anemia, Erythema	ORPHA:79278
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Dextrocardia, Pancytopenia, Cystathioninuria, Homocystinuria, Megaloblastic...	OMIM:277380
Cowden Syndrome	Neoplasm of the central nervous system, Neoplasm of the thyroid gland, Adenoma sebaceum, Fibroma,...	ORPHA:201
Linear Skin Defects With Multiple Congenital Anomalies 3	Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D...	OMIM:300952
Extracranial Carotid Artery Aneurysm	Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Upper limb muscle weakness, Total anomalo...	ORPHA:494424
Heart Block, Congenital	Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri...	OMIM:234700
Familial Hyperaldosteronism Type I	Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:403
Proteus Syndrome	Macrocephaly, Long face, Calvarial hyperostosis, Mandibular hyperostosis, Lymphangioma, Facial hy...	OMIM:176920
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Prominent occiput, Relative macrocephaly, Low-set ears, Proptosis, Po...	OMIM:613385
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa...	OMIM:615745
21Q22.11Q22.12 Microdeletion Syndrome	Postnatal growth retardation, Recurrent otitis media, Anemia, Microtia, Round face, Low-set ears,...	ORPHA:261323
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Macrocephaly, Sensorineural hearing impairment, Proptosis,...	ORPHA:1451
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Triangular face, Aortic regurgitation, Low-set, posteriorly...	ORPHA:1052
Stormorken Syndrome	Anemia, Hematuria, Hypotelorism, Howell-Jolly bodies, Asplenia, Short stature, Hypoplastic spleen...	OMIM:185070
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h...	ORPHA:369929
Arthrogryposis, Distal, Type 2B3	Short stature, Triangular face, Camptodactyly	OMIM:618436
Leopard Syndrome 1	Delayed puberty, Sensorineural hearing impairment, Pulmonic stenosis, Mitral valve prolapse, Hypo...	OMIM:151100
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Decreased body weight, Short stature, Thrombocytopenia, Splenomegaly	OMIM:231000
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertrophy,...	ORPHA:79083
Gm1-Gangliosidosis, Type I	Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic c...	OMIM:230500
Nephroblastoma	Hypertension	ORPHA:654
Cog4-Cdg	Cirrhosis, Limb hypertonia, Microcephaly, Growth delay, Thrombocytopenia, Hepatosplenomegaly, Fai...	ORPHA:263501
Takenouchi-Kosaki Syndrome	Unilateral renal agenesis, Hypospadias, Progressive microcephaly, Sensorineural hearing impairmen...	OMIM:616737
Netherton Syndrome	Hypereosinophilia, Increased circulating IgE level, Failure to thrive, Decreased circulating IgG ...	OMIM:256500
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Increased circulating IgM level,...	ORPHA:37748
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Apparent Mineralocorticoid Excess	Hypertension	OMIM:218030
Idiopathic Acute Eosinophilic Pneumonia	Abnormal eosinophil morphology	ORPHA:724
Fanconi Anemia, Complementation Group F	Anemia, Pelvic kidney, Microtia, Vesicoureteral reflux, Microphallus, Microcephaly, Renal hypopla...	OMIM:603467
Monosomy 22	Sarcoma, Meningioma, Gonadal neoplasm, Schwannoma, Aplasia of the thymus	ORPHA:96123
Cole-Carpenter Syndrome 2	Postnatal growth retardation, Turricephaly, Macrocephaly, Lambdoidal craniosynostosis, Triangular...	OMIM:616294
Hemochromatosis, Type 3	Purpura, Cirrhosis, Elevated circulating hepatic transaminase concentration, Anemia, Cardiomyopat...	OMIM:604250
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Portal hypertension, Abnormality of the hepatic vasculature, Bone marrow hypocellularity, Thrombo...	ORPHA:210136
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Short nose, Triangular face, Renal tubular acidosis, Patent foramen ovale, Low-set...	OMIM:613457
Cryoglobulinemia, Familial Mixed	Hypertension	OMIM:123550
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect, Anemia	OMIM:617408
Platelet Signal Processing Defect	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:173590
Smith-Kingsmore Syndrome	Large for gestational age, Short nose, Macrocephaly, Rhizomelia, Diastasis recti, Frontal bossing...	OMIM:616638
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Ischemic stroke, Hypertension, Transient ischemic attack, Cerebral ischemia, Cerebral hemorrhage,...	ORPHA:136
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Myocardial infarction, Coronary artery stenosis	OMIM:615812
Nicolaides-Baraitser Syndrome	Microcephaly, Triangular face, Severe short stature	ORPHA:3051
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Granulocytopenia	OMIM:608898
Marbach-Rustad Progeroid Syndrome	Pulmonary insufficiency, Ventricular septal hypertrophy, Triangular face, Right bundle branch blo...	OMIM:619322
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Macrocephaly, Pancytopenia, Facial palsy, Hearing impairment, Frontal bossi...	OMIM:259700
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor, Splenomegaly	ORPHA:90037
Congenital Disorder Of Glycosylation, Type Ig	Triangular face, Hypospadias, Rhizomelia, Progressive microcephaly, Patent foramen ovale, Abnorma...	OMIM:607143
Relapsing Fever	Acute kidney injury, Jaundice, Anemia, Hematuria, Leukocytosis, Hypotension, Neutrophilia, Thromb...	ORPHA:91547
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly, Craniofacial hyperostosis	ORPHA:1802
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Postnatal growth retardation, Hepatomegaly, Short stature, Decreased circulating IgG level, Leuko...	OMIM:620210
Diamond-Blackfan Anemia 21	Anemia, Aortic regurgitation, Erythroid hypoplasia, Low-set ears, Microcephaly, Short stature, Ob...	OMIM:620072
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pancreatitis, Cardiomegaly, Limb hypertonia, Splenic cyst, Triangular face, Patent foramen ovale,...	OMIM:620371
Xq12-Q13.3 Duplication Syndrome	Triangular face, Microcephaly, Generalized amyotrophy, Cleft earlobe, Short stature, Anterior cre...	ORPHA:314389
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type	Coarse facial features, Triangular face	ORPHA:293707
Dubowitz Syndrome	Aplastic anemia, Postnatal growth retardation, Protruding ear, Triangular face, Hypospadias, Low-...	OMIM:223370
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Death in childhood, Reduced left ventricular ejection fraction, Hypertr...	OMIM:614096
Immunodeficiency 76	Death in childhood, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Growth delay, Splenome...	OMIM:619164
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Microcephaly, Splen...	ORPHA:1046
Partington Syndrome	Triangular face, Flexion contracture, Camptodactyly	OMIM:309510
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Decreased mean corpuscular volume, Eryt...	OMIM:206100
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly	OMIM:614480
Trichothiodystrophy	Cryptorchidism, Recurrent bronchopulmonary infections, Squamous cell carcinoma	ORPHA:33364
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pulmonary carcinoid ...	ORPHA:276152
Xeroderma Pigmentosum, Complementation Group A	Squamous cell carcinoma of the skin, Melanoma	OMIM:278700
Lipodystrophy, Familial Partial, Type 5	Hypertension	OMIM:615238
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor, Pancreatic islet-cell hyperplasia	ORPHA:276608
Cockayne Syndrome B	Sensorineural hearing impairment, Abnormal pinna morphology, Hypertension, Microcephaly, Severe s...	OMIM:133540
Neurofibromatosis Type 1	Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Chronic myelogenous leukemia, Pheochromo...	ORPHA:636
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Wolff-Parkinson-White syndrome, Coronary artery fistula, Patent foramen ova...	OMIM:619343
Mandibuloacral Dysplasia Progeroid Syndrome	Brachycephaly, Postnatal growth retardation, Hepatomegaly, Macrovesicular hepatic steatosis, Deat...	OMIM:619127
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Microcephaly, Lymphopenia, Intrauterine growth retardation, Craniosynostosis, Accessory...	OMIM:620005
Immunodeficiency 17	Autoimmune hemolytic anemia, Death in childhood, Decreased proportion of CD8-positive T cells, Ab...	OMIM:615607
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Failure to thrive, Thrombocyto...	OMIM:251000
Preeclampsia	Elevated systolic blood pressure, Hypertension, Elevated diastolic blood pressure	ORPHA:275555
X-Linked Agammaglobulinemia	Chronic otitis media, Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Se...	ORPHA:47
Dyskeratosis Congenita, Digenic	Decreased testicular size, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	OMIM:620040
Intellectual Developmental Disorder, Autosomal Recessive 41	Macrocephaly, Hepatomegaly, Frontal bossing, Dolichocephaly, Splenomegaly, Hypertelorism, Scaphoc...	OMIM:615637
Paroxysmal Hemicrania	Hypertension	ORPHA:157835
Optic Atrophy 1	Pallor	OMIM:165500
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Periportal f...	ORPHA:64743
Systemic Lupus Erythematosus	Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, Lupus nephritis	OMIM:152700
Igg4-Related Kidney Disease	Enlarged kidney, Sclerosing cholangitis, Pericarditis, Increased circulating IgG4 level, Cholecys...	ORPHA:449395
Overlap Myositis	Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Perifascicular muscle...	ORPHA:206572
Dermatomyositis	Abnormal pulmonary interstitial morphology, Lymphoma, Gastrointestinal stroma tumor, Lung adenoca...	ORPHA:221
Three M Syndrome 2	Triangular face, Small for gestational age, Relative macrocephaly, Scapular winging, Short statur...	OMIM:612921
Ochoa Syndrome	Hypertension	ORPHA:2704
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Angina pectoris, Abnormal heart valve morphology, Miscarriage...	ORPHA:464343
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Dehydration, Anemia	ORPHA:28
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cardiomyopathy, Leukocytosis, Hypotension, C...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Short nose, Hepatomegaly, Polycystic kidney dysplasia, Low-set ears, Ascites, Micr...	OMIM:608776
Juvenile Paget Disease	Hypertension	ORPHA:2801
Alopecia Universalis	Hypertension	ORPHA:701
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Triangular face, Patent foramen ovale, Distal amyotrophy, Abnormal pinna morphology, Abnormal fac...	ORPHA:477817
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Abnormal facial shape, Increased mean platelet volume, Hydronephrosis, Thrombocytop...	OMIM:300048
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Recurrent otitis media, Hypotelorism, Long face, Low-set ears, Camptodactyly, Hearing...	OMIM:613604
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss, Pulmonary arterial hypertension	ORPHA:1164
Fanconi Anemia, Complementation Group E	Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Microcephaly, Hearing impairment, Short ...	OMIM:600901
Hydrops Fetalis, Nonimmune	Hydrops fetalis, Nonimmune hydrops fetalis, Anemia	OMIM:236750
Reticular Dysgenesis	Chronic otitis media, Anemia, Decreased circulating antibody level, Hearing impairment, Failure t...	ORPHA:33355
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Macrocephaly, Triangular face, Unilateral renal agenesis, Coarse facial...	ORPHA:261337
Trisomy 18	Congenital diaphragmatic hernia, Short nose, Cyclopia, Triangular face, Low-set, posteriorly rota...	ORPHA:3380
Silver-Russell Syndrome 1	Triangular face, Hypospadias, Hepatocellular carcinoma, Abnormality of the ureter, Frontal bossin...	OMIM:180860
Fanconi Anemia, Complementation Group V	Anemia, Microcephaly, Bone marrow hypocellularity, Short stature, Thrombocytopenia, Neutropenia	OMIM:617243
Acute Promyelocytic Leukemia	Anemia, Hematuria, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Epi...	ORPHA:520
Chromosome 5Q12 Deletion Syndrome	Postnatal growth retardation, Decreased body mass index, Coarse facial features, Patent foramen o...	OMIM:615668
Fanconi Anemia, Complementation Group D2	Ectopic kidney, Microcephaly, Bone marrow hypocellularity, Abnormal heart morphology, Neutropenia...	OMIM:227646
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Hemophagocytosis, Lymphadenopa...	OMIM:301078
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Large for gestational age, Anemia, Neutropenia, Bone marrow hypocellularity, Failure to thrive, T...	OMIM:614520
Aicardi-Goutieres Syndrome 5	Microcephaly, Thrombocytopenia, Flexion contracture	OMIM:612952
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Pallor	ORPHA:90033
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Plagiocephaly, Frontal bossing, Triangular face	OMIM:619264
Silver-Russell Syndrome	Secondary microcephaly, Postnatal growth retardation, Triangular face, Hypospadias, Low-set, post...	ORPHA:813
Non-Functioning Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:94080
Cyclic Vomiting Syndrome	Growth delay, Pallor, Cardiomyopathy	OMIM:500007
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Familial Pseudohyperkalemia	Hypertension	ORPHA:90044
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Sensorineural hearing impairment, Microcephaly, Failure to thrive, Short stature, Thrombocytopenia	OMIM:616577
Activated Pi3K-Delta Syndrome	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, ...	ORPHA:397596
Immunodeficiency 102	Hepatomegaly, Anemia, Decreased circulating total IgM, Partial absence of specific antibody respo...	OMIM:301082
Stiff Skin Syndrome	Hypertension	ORPHA:2833
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Facial palsy, Reticulocytosis, Growth delay, Thrombocytopenia, Splenomegaly	OMIM:611490
Pseudo-Torch Syndrome 2	Hepatomegaly, Bradycardia, Ascites, Abnormal renal corticomedullary differentiation, Microcephaly...	OMIM:617397
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Abscess, Intermittent thrombocytopenia, Splenomegaly, Abnorma...	OMIM:150550
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Microtia, Hearing impairment, Increased mean platelet volume, Ventricular ...	OMIM:620475
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Hypertension, Dextrocardia	OMIM:613095
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Short sta...	ORPHA:381
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Sensorineural hearing ...	ORPHA:93476
Wolfram Syndrome 1	Hydroureter, Sensorineural hearing impairment, Megaloblastic anemia, Neurogenic bladder, Cardiomy...	OMIM:222300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Enlarged kidney, Bone marrow hypocellularity, Abnormal heart morphology, Leukopenia, Patent foram...	ORPHA:505248
Alg8-Cdg	Anemia, Low-set ears, Ascites, Camptodactyly, Abnormal facial shape, Failure to thrive, Hypertelo...	ORPHA:79325
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Triangular face, Low-set ears, Renal cyst, Microcephaly, Frontal bossing, Short stature, Mitral s...	OMIM:617260
Lig4 Syndrome	Acute leukemia, Brachycephaly, Bird-like facies, Hepatomegaly, Lymphadenopathy, Hypoplasia of pen...	ORPHA:99812
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Microcepha...	OMIM:613990
Hoxha-Aliu Syndrome	Brachycephaly, Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranou...	OMIM:620662
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Macrocytic anemia, Sensorineural hearing impairment, Cardiomyopathy, Death in infancy, Failure to...	OMIM:619046
Stt3B-Cdg	Microcephaly, Failure to thrive, Thrombocytopenia, Intrauterine growth retardation, Micropenis	ORPHA:370924
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Lhermitte-Duclos Disease	Neoplasm of the thyroid gland, Trichilemmoma, Fibroadenoma of the breast, Ovarian neoplasm	ORPHA:65285
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Increased variability in muscle fiber diameter, Dilated cardiomyopathy	ORPHA:70595
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Sensorineural hearing impairment, Thrombocytopenia, Macrothrombocy...	OMIM:124900
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet...	OMIM:614350
Paganini-Miozzo Syndrome	Urinary incontinence, Triangular face, Microtia, Low-set ears, Posteriorly rotated ears, Deeply s...	OMIM:301025
Myh9-Related Disease	Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Sensori...	ORPHA:182050
Fanconi Anemia, Complementation Group A	Anemia, Ectopic kidney, Pancytopenia, Reticulocytopenia, Microcephaly, Hearing impairment, Short ...	OMIM:227650
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,...	OMIM:231200
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Sensorineural hearing impairment, Nephritis, Thrombo...	ORPHA:3327
Diamond-Blackfan Anemia 6	Macrocytic anemia, Increased mean corpuscular volume, Ventricular hypertrophy, Persistence of hem...	OMIM:612561
Marfanoid-Progeroid-Lipodystrophy Syndrome	Macrocephaly, Triangular face, Hypertension, Scapular winging, Proptosis, Mitral valve prolapse, ...	OMIM:616914
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Myopathy	ORPHA:363400
Sepsis In Premature Infants	Decreased liver function, Purpura, Jaundice, Hepatomegaly, Anemia, Petechiae, Leukocytosis, Throm...	ORPHA:90051
Silver-Russell Syndrome Due To A Point Mutation	Postnatal growth retardation, Triangular face, Hypospadias, Relative macrocephaly, Low-set ears, ...	ORPHA:397590
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Hereditary Mixed Polyposis Syndrome	Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ...	ORPHA:157794
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Gaucher Disease Type 1	Delayed puberty, Increased circulating antibody level, Ascites, Leukopenia, Splenomegaly, Pancyto...	ORPHA:77259
Isovaleric Acidemia	Cerebellar hemorrhage, Pancytopenia, Hyperglycinuria, Bone marrow hypocellularity, Thrombocytopen...	OMIM:243500
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Microcephaly, Neutropenia, Acute kidney injury, Hemolytic-uremic syndrome, Cystathio...	OMIM:277400
Hyperinsulinism Due To Hnf1A Deficiency	Pallor, Hepatomegaly	ORPHA:324575
Distal 17P13.1 Microdeletion Syndrome	Protruding ear, Triangular face, Microcephaly, Abnormal facial shape, Flat occiput, Deeply set eye	ORPHA:319171
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Disproportionate short stature, Anemia, Hemolytic-uremic syndrome, Schistocytosis, Moderate prote...	OMIM:301110
Pseudohypoaldosteronism, Type Iic	Hypertension	OMIM:614492
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Low-set ears, T lymphocytopenia, Short stature, Failure to thrive, Increased circulat...	OMIM:242860
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Congenital diaphragmatic hernia, Turricephaly, Short nose, Abnormal...	OMIM:618774
C3 Glomerulopathy	Hypertension	ORPHA:329918
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Cirrhosis, Triangular face, Hypertrophic cardiomyopathy, Glycosuria, Failure to thrive, Exocrine ...	OMIM:616539
Arthrogryposis, Distal, Type 2B2	Triangular face, Camptodactyly	OMIM:618435
Cutis Laxa, Autosomal Dominant 3	Postnatal growth retardation, Triangular face, Aortic regurgitation, Unilateral renal agenesis, L...	OMIM:616603
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Facial p...	OMIM:164310
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Renal salt wasting, Polyuria, Anemia, Pancytopenia, Pulmonary arterial hypertension, Failure to t...	OMIM:613845
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Triangular face, Low-set, posteriorly rotated ears, Microcephaly, Macrotia, Facial asymmetry, Ove...	ORPHA:1110
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
Incontinentia Pigmenti	Leukocytosis, Retinal hemorrhage, Microcephaly, Short stature, Eosinophilia	OMIM:308300
Snakebite Envenomation	Acute kidney injury, Hypotension, Cerebral ischemia, Muscle fiber necrosis, Rhabdomyolysis, Cardi...	ORPHA:449285
Wilson Disease	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Acute hepatitis, Increased body weight, Hepatitis, Fai...	ORPHA:905
Hyperparathyroidism-Jaw Tumor Syndrome	Fibroma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, Primary hyperparathyroi...	ORPHA:99880
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia, Epistaxis	OMIM:613554
Immunodeficiency With Hyper-Igm, Type 1	Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch...	OMIM:308230
Eosinophil Peroxidase Deficiency	Eosinophil nuclear hypersegmentation	OMIM:261500
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect	OMIM:618348
Three M Syndrome 1	Postnatal growth retardation, Triangular face, Hypospadias, Scapular winging, Short stature, Fron...	OMIM:273750
Kindler Epidermolysis Bullosa	Neoplasm of the urethra, Squamous cell carcinoma	ORPHA:2908
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia	ORPHA:238459
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Braddock-Carey Syndrome 2	Microcephaly, Hearing impairment, Thrombocytopenia, Atresia of the external auditory canal	OMIM:619981
Congenital Disorder Of Glycosylation, Type Ie	Secondary microcephaly, Muscular dystrophy, Ankle flexion contracture, Hepatomegaly, Patent ductu...	OMIM:608799
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage	OMIM:137560
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Pancytopenia, Myocardial necrosis, Persistence of h...	OMIM:260400
Diamond-Blackfan Anemia 8	Short nose, Macrocytic anemia, Increased mean corpuscular volume, Growth delay, Short stature, Hy...	OMIM:612563
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Oropharyngeal squamous cell carcinoma, Recurrent upper respiratory tract in...	ORPHA:391487
Diffuse Alveolar Hemorrhage	Hematuria, Anemia, Leukocytosis, Thrombocytopenia, Proteinuria, Weight loss, Pulmonary venous hyp...	ORPHA:90060
Alpha-Mannosidosis	Chronic otitis media, Macrocephaly, Hepatomegaly, Coarse facial features, Craniofacial hyperostos...	ORPHA:61
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Macrocephaly, Triangular face, Hypospadias, Hypotelorism, Sensorineural hearing...	OMIM:616975
Progressive Multifocal Leukoencephalopathy	Abnormal proportion of CD4-positive T cells, Decreased proportion of CD8-positive T cells, Limb m...	ORPHA:217260
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Triangular face	ORPHA:1174
Muckle-Wells Syndrome	Delayed puberty, Hepatomegaly, Anemia, Macrocephaly, Vasculitis, Nephrotic syndrome, Camptodactyl...	ORPHA:575
Irida Syndrome	Pallor, Intrahepatic cholestasis	ORPHA:209981
Stormorken-Sjaastad-Langslet Syndrome	Short stature, Purpura, Anemia, Asplenia	ORPHA:3204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Atrial septal defect, Muscular dystrophy, Transposition of the great arteries, Calf muscle hypert...	OMIM:253800
Immunodeficiency 54	Postnatal growth retardation, Hepatomegaly, Lymphadenopathy, Microcephaly, Short stature, Failure...	OMIM:609981
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Triangular face, Long face, Narrow face, Microcephaly, Growth delay, Short stature, Protruding ea...	ORPHA:93947
Waldenström Macroglobulinemia	Purpura, Hepatomegaly, Normocytic anemia, Leukemia, Pleural effusion, Splenomegaly, Periorbital e...	ORPHA:33226
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Increased circulating IgG level, B lymphocytopenia, Increased circulating IgA le...	OMIM:618048
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Epistaxis, Thrombocytopenia...	OMIM:619463
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating IgM level...	ORPHA:74
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Increased mean platelet volume, Thrombocytopenia, Progressive sensorineur...	ORPHA:494444
Myopathy With Extrapyramidal Signs	Hepatomegaly, Calf muscle hypertrophy, Leukocytosis, Narrow face, Microcephaly, Growth delay, Spl...	OMIM:615673
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm...	ORPHA:86839
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Triangular face, Cachexia, Proptosis, Camptodactyly of finger, Proteinuria, Nephropathy, Wide nas...	ORPHA:2774
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:220295
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Macrocephaly, Bone-marrow foam cells, Asci...	OMIM:257200
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:605373
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension, Leukocytosis, Ascites, Abnormal heart morphology, Thrombocytopen...	ORPHA:391673
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Postnatal growth retardation, Short nose, Sensorineural hearing impairment, Elbow flexion contrac...	OMIM:612394
Immunodeficiency 22	Anemia, Decreased circulating IgE, Capillary leak, Ascites, Pericarditis, Failure to thrive, Decr...	OMIM:615758
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Death in childhood, Low-set ears, Death...	OMIM:617941
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia, Dehydrat...	ORPHA:20
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Vasculitis, Progressive microcephaly, Cardiomyopathy, Microcephaly, Prolonged neona...	OMIM:225750
Recon Progeroid Syndrome	Anemia, Attached earlobe, Microtia, Round face, Microcephaly, Short stature, Growth delay, Thromb...	OMIM:620370
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, ...	ORPHA:143
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology...	OMIM:618654
Infantile Liver Failure Syndrome 1	Hepatomegaly, Anemia, Macrocytic anemia, Sensorineural hearing impairment, Microcephaly, Frontal ...	OMIM:615438
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypertension, Epistaxis, Intracranial hemorrhage, Palpitations, Abnormal T-wave	ORPHA:231625
Fontaine Progeroid Syndrome	Turricephaly, Proptosis, Death in infancy, Microcephaly, Abnormal heart morphology, Left ventricu...	OMIM:612289
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Bleeding Disorder, Platelet-Type, 25	Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in...	OMIM:620486
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Peroxisome Biogenesis Disorder 11A (Zellweger)	Triangular face, Renal cyst, Failure to thrive, Large face, Multiple renal cysts	OMIM:614883
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Delayed puberty, Low-set, posteriorly rotated ears, Microtia, Trigonocephaly, Frontal bossing, Mi...	ORPHA:2994
Boutonneuse Fever	Lymphadenopathy, Increased circulating IgG level, Vasculitis, Increased circulating IgM level, Th...	ORPHA:83313
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Rest...	ORPHA:758
Dilated Cardiomyopathy With Ataxia	Muscular ventricular septal defect, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic ...	ORPHA:66634
Apparent Mineralocorticoid Excess	Hypertension, Left ventricular hypertrophy	ORPHA:320
Arterial Tortuosity Syndrome	Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,...	ORPHA:3342
Diamond-Blackfan Anemia 5	Erythroid hypoplasia, Macrocytic anemia, Hypospadias, Reticulocytopenia, Low-set ears, Short stat...	OMIM:612528
Caspase 8 Deficiency	Lymphadenopathy, Complete or near-complete absence of specific antibody response to unconjugated ...	OMIM:607271
Diamond-Blackfan Anemia 1	Macrocytic anemia, Parietal foramina, Microcephaly, Intrauterine growth retardation, Congenital h...	OMIM:105650
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Drug-Induced Lupus Erythematosus	Hematuria, Anemia, Prolonged QTc interval, Pericarditis, Pericardial effusion, Thrombocytopenia	ORPHA:231111
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Triangular face, Prominent U wave, Prolonged QTc interval, Scapular wingin...	OMIM:170390
Marshall-Smith Syndrome	Prominent occiput, Hypertension, Proptosis, Premature ventricular contraction, Shallow orbits, Cr...	OMIM:602535
Developmental And Epileptic Encephalopathy 111	Sinus tachycardia, Hypertension, Premature ventricular contraction, Biventricular hypertrophy, Hy...	OMIM:620504
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Pulmonary arterial hypertension, Retinal hemorrhage,...	ORPHA:464
Chediak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Spontaneous, recurrent epistax...	OMIM:214500
Immunodeficiency 47	Sensorineural hearing impairment, Cholestasis, Death in infancy, Prolonged neonatal jaundice, Leu...	OMIM:300972
Arboleda-Tham Syndrome	Chronic otitis media, Lower limb amyotrophy, Small earlobe, Underdeveloped tragus, Proptosis, Pul...	OMIM:616268
Hemochromatosis, Type 4	Cirrhosis, Hepatomegaly, Anemia, Cardiomyopathy, Hepatic steatosis	OMIM:606069
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Pulmonary arterial hypertension, Rhabdomyolysis, Tachycardia, Aborted sudden cardia...	OMIM:614921
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Macrocephaly, Triangular face, Recurrent otitis media, Renal tubular acidosis, Sensorineural hear...	OMIM:619575
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Ca...	OMIM:252920
Q Fever	Myocarditis, Hepatomegaly, Anemia, Hematuria, Lymphadenopathy, Increased circulating antibody lev...	ORPHA:781
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Macrocephaly, Triangular face, Rhizomelia, Long face, Microtia, Low-set ears, Microcephaly, Failu...	OMIM:614813
Alagille Syndrome	Delayed puberty, Long nose, Hypertension, Cholestasis, Round face, Intrauterine growth retardatio...	ORPHA:52
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent...	OMIM:212138
Combined Oxidative Phosphorylation Deficiency 14	Death in childhood, Anemia, Increased hepatic glycogen content, Death in infancy, Microcephaly, E...	OMIM:614946
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ragged-red muscle fibers, Scapular winging, Muscle fiber necrosis, Increased variability in muscl...	OMIM:607459
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Myositis, Lymphopenia, Ascites, Nephrotic syndrome, Pericardial effus...	ORPHA:93552
Iga Pemphigus	Eosinophilia, Increased circulating IgA level, Cutaneous abscess, Monoclonal elevation of circula...	ORPHA:555905
Acquired Generalized Lipodystrophy	Abnormal cardiovascular system physiology, Calf muscle pseudohypertrophy, Hypertension, Cardiomyo...	ORPHA:79086
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Normochromic anemia, Bradycardia, Cholelithiasis, Hypertrophic card...	OMIM:618775
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Sarcoidosis	Increased T cell count, Nephrocalcinosis, Leukopenia, Abnormal cardiac ventricular function, Neph...	ORPHA:797
Sickle Cell Disease	Jaundice, Hematuria, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis...	OMIM:603903
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Purpura, Hepatomegaly, Anemia, Petechiae, Splenomegaly	OMIM:620296
Wiskott-Aldrich Syndrome	Hematemesis, Chronic otitis media, Abnormal platelet function, Abnormal platelet morphology, Epis...	ORPHA:906
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Anemia, Pancytopenia, Failure to thrive, Thrombocytopenia, Dilated cardiomyopathy, ...	OMIM:251110
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Hypertension, Pulmonary arterial hypertension	OMIM:613320
Mirage Syndrome	Anemia, Hypospadias, Patent ductus arteriosus, Decreased body weight, Microphallus, Short stature...	OMIM:617053
Short Syndrome	Triangular face, Sensorineural hearing impairment, Low-set ears, Frontal bossing, Macrotia, Intra...	OMIM:269880
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Recurrent otitis media, Lymphadenopathy, Pancytopenia, Decreased pro...	OMIM:614700
Thanatophoric Dysplasia	Macrocephaly, Disproportionate short-limb short stature, Cloverleaf skull, Low-set ears, Proptosi...	ORPHA:2655
Acth-Independent Macronodular Adrenal Hyperplasia 2	Hypertension	OMIM:615954
Syndromic Diarrhea	Panhypogammaglobulinemia, Abnormal heart morphology, Splenomegaly, Lymphopenia, Bicuspid aortic v...	ORPHA:84064
Dyskeratosis Congenita, Autosomal Dominant 1	Interstitial pneumonitis, Squamous cell carcinoma of the skin, Myelodysplasia, Pulmonary fibrosis	OMIM:127550
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Combined Oxidative Phosphorylation Deficiency 40	Decreased liver function, Anemia, Hypertrophic cardiomyopathy, Neonatal death, Nonimmune hydrops ...	OMIM:618835
Combined Oxidative Phosphorylation Deficiency 42	Decreased liver function, Anemia, Cardiomyopathy, Neonatal death, Nonimmune hydrops fetalis, Intr...	OMIM:618839
Hoyeraal-Hreidarsson Syndrome	Anemia, Abnormal leukocyte morphology, Microcephaly, Bone marrow hypocellularity, Failure to thri...	ORPHA:3322
Macrocephaly/Autism Syndrome	Large for gestational age, Postnatal macrocephaly, Hepatomegaly, Recurrent otitis media, Short no...	OMIM:605309
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Noonan Syndrome 1	Postnatal growth retardation, Juvenile myelomonocytic leukemia, Triangular face, Hypospadias, Ame...	OMIM:163950
Lmna-Related Cardiocutaneous Progeria Syndrome	Basal cell carcinoma, Emphysema, Squamous cell carcinoma of the skin, Pulmonary carcinoid tumor, ...	ORPHA:363618
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Hec Syndrome	Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia	ORPHA:2119
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Peroxisome Biogenesis Disorder 13A (Zellweger)	Jaundice, Hepatomegaly, Dicarboxylic aciduria, Intrahepatic cholestasis, Triangular face, Neonata...	OMIM:614887
3-Methylglutaconic Aciduria, Type Viib	3-Methylglutaconic aciduria, Congestive heart failure, Rhizomelia, Microcephaly, Growth delay, Th...	OMIM:616271
Global Developmental Delay With Speech And Behavioral Abnormalities	Macrocephaly, Triangular face, Recurrent otitis media, Microcephaly, Hearing impairment	OMIM:619243
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Triangular face, Prolonged QT interval, Otosclerosis, Microtia, Vesicoure...	ORPHA:529962
Distal Deletion 3P	Abnormal vestibulo-ocular reflex, Brachycephaly, Atrioventricular canal defect, Triangular face, ...	ORPHA:1620
Intellectual Developmental Disorder, Autosomal Dominant 59	Protruding ear, Macrocephaly, Facial hypotonia, Low-set ears, Short stature, Flat face, Mild shor...	OMIM:618522
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Abnormal platelet function, Abnormal mitral valve...	ORPHA:903
Tuberous Sclerosis Complex	Retinal hamartoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Subependymal nodules, Pheochr...	ORPHA:805
Ectopic Aldosterone-Producing Tumor	Hypertension, Epistaxis	ORPHA:231632
Immunodeficiency, Common Variable, 1	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Decreased proportion of class-switched mem...	OMIM:607594
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v...	ORPHA:3099
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Cardiomyopathy, Hematochezia, Skeletal muscle atrophy, Dilated cardiomy...	OMIM:615895
Osteogenesis Imperfecta, Type Iii	Neonatal short-limb short stature, Triangular face, Disproportionate short-limb short stature, Pu...	OMIM:259420
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Limb hypertonia, Cardiomyopathy, Generalized amyotrophy, Thrombocytopenia, Skeletal muscle atroph...	OMIM:617710
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Cirrhosis, Ascites, Pulmonary arterial hypertension, Portal hyperten...	ORPHA:974
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Trigonocephaly, Microcephaly, Craniosynostosis, Hypospadias, Long face, Camptodactyly, Hearing im...	OMIM:309590
Severe Generalized Junctional Epidermolysis Bullosa	Pneumonia, Pneumothorax, Squamous cell carcinoma	ORPHA:79404
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Hypertension, Cardiomyopathy, Punctate vasculitis skin lesions, Rayn...	ORPHA:247691
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Abnormal facial shape, Growth delay, ...	OMIM:612527
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Generalized aminoaciduria, Periportal fibrosis, Ascites, Portal hypertens...	OMIM:251880
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Renal Hypodysplasia/Aplasia 1	Hypertension	OMIM:191830
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,...	OMIM:620282
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Jaundice, Hemolytic-uremic syndrome, Long face, Megaloblastic anemia, Low-set...	ORPHA:79282
Castleman Disease	Jaundice, Anemia, Hematuria, Mediastinal lymphadenopathy, Lymphadenopathy, Restrictive cardiomyop...	ORPHA:160
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Growth delay, Splenomegaly, Hepatic failure	ORPHA:75233
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Primary Unilateral Adrenal Hyperplasia	Palpitations, Hypertension, Epistaxis	ORPHA:231580
Heme Oxygenase 1 Deficiency	Diffuse alveolar hemorrhage, Hypertension, Epistaxis	OMIM:614034
Viss Syndrome	Coronary sinus enlargement, Proptosis, Microcephaly, Mitral valve prolapse, Hypereosinophilia, Ri...	OMIM:619472
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Decreased circulating IgG level, Neutrophilia, Decr...	OMIM:619281
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Gaucher Disease Type 3	Delayed puberty, Hepatomegaly, Hematuria, Anemia, Increased circulating antibody level, Pancytope...	ORPHA:77261
Hyperaldosteronism, Familial, Type Iii	Hypertension	OMIM:613677
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Increased cir...	OMIM:618495
Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Pulmonic stenosis, Aortic valve stenosis, Low-set, posteriorly rotated ears, Elbow fle...	ORPHA:536471
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Sen...	ORPHA:540
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Ventricular septal hypertrophy, Generalized muscular appearance from bir...	OMIM:269700
Jacobsen Syndrome	Death in infancy, Aortic valve stenosis, Bone marrow hypocellularity, Trigonocephaly, Intrauterin...	ORPHA:2308
Pearson Syndrome	Cardiomyopathy, Reticulocytosis, Microcephaly, Bone marrow hypocellularity, Abnormal heart morpho...	ORPHA:699
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Delayed puberty, Relative macrocephaly, Left ventricular hypertrophy, Abnormal cardiac ventricula...	ORPHA:466791
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Abnormality of globe location, Macrocephaly, Hypochromic microcytic an...	ORPHA:440713
Aicardi-Goutieres Syndrome 7	Hematemesis, Increased circulating antibody level, Hypertension, Microcephaly, Hematochezia, Sple...	OMIM:615846
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Death in childhood, Pulmonary arterial hypertension, Death in infancy, Frontal boss...	OMIM:619064
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Cholestasis, Increased T cell count, Splenomegaly, Cardiomegaly, Intraut...	OMIM:620376
Mucopolysaccharidosis, Type Ii	Congestive heart failure, Hepatomegaly, Macrocephaly, Coarse facial features, Recurrent otitis me...	OMIM:309900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia, Dehydration, Elevated circulating alanine aminotransferase concentration, E...	OMIM:246450
Zika Virus Disease	Miscarriage, Microcephaly, Transient hearing impairment, Increased circulating IgM level, Thrombo...	ORPHA:448237
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Postnatal growth retardation, Triangular face, Hypospadias, Small for gestational age, Relative m...	ORPHA:96182
Morgagni-Stewart-Morel Syndrome	Hypertension	ORPHA:77296
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Neurooculocardiogenitourinary Syndrome	Secondary microcephaly, Sensorineural hearing impairment, Patent foramen ovale, Low-set ears, Tri...	OMIM:618652
Down Syndrome	Brachycephaly, Delayed puberty, Short nose, Atrioventricular canal defect, Leukemia, Abnormality ...	ORPHA:870
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Reduced left ventricular ejection fraction, Atrial fibrillation, Ragged-red muscl...	ORPHA:254892
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Hurler Syndrome	Calvarial hyperostosis, Cardiomyopathy, Dermatan sulfate excretion in urine, Enlarged tonsils, Sp...	OMIM:607014
Beta-Ketothiolase Deficiency	Hepatomegaly, Dehydration, Leukocytosis, Edema, Pallor, Thrombocytosis	ORPHA:134
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Br...	OMIM:300280
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo...	ORPHA:88
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Edema, Anemic pallor, Anemia, Growth delay	ORPHA:329971
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Postnatal growth retardation, Unilateral renal agenesis, Hypospadias, Low-set, posteriorly rotate...	ORPHA:487796
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Congestive heart failure, Patent foramen ovale, Cardiomyopathy, Spinal muscular atrophy, Increase...	OMIM:616866
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Partington Syndrome	Facial telangiectasia, Triangular face	ORPHA:94083
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Anemia, Hypotelorism, Proximal tubulopathy, Type 2 muscle fiber p...	OMIM:619743
Histiocytosis-Lymphadenopathy Plus Syndrome	Flexion contracture of toe, Joint contracture of the 5th finger, Sensorineural hearing impairment...	OMIM:602782
Arthrogryposis, Distal, Type 2B1	Triangular face, Short stature, Camptodactyly of finger, Distal arthrogryposis, Arthrogryposis mu...	OMIM:601680
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Death in childhood, Impaired lymphocyte transformation with phytohem...	OMIM:243150
Senior-Loken Syndrome 8	Hepatic cysts, Pallor, Pancreatic cysts, Intrahepatic bile duct dilatation	OMIM:616307
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ...	ORPHA:79301
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Chronic hemolytic anemia, Hepatomegaly, Death in childhood, Microvesicular hepatic steatosis, Ven...	OMIM:618278
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Hypotension, Ascites, Thrombocytopenia, Leukopenia, Ep...	ORPHA:99828
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Postnatal growth retardation, Hepatic hemangioma, Hepatomegaly, Triangular face, Proptosis, Shall...	ORPHA:73230
Immunodeficiency 87 And Autoimmunity	Hypertension, Cholestasis, Ascites, Lymphopenia, Intrauterine growth retardation, Hepatic steatos...	OMIM:619573
Macrophage Activation Syndrome	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thro...	ORPHA:158061
Rh Deficiency Syndrome	Jaundice, Macrocytic anemia, Spherocytosis, Hypochromia, Reticulocytosis, Anisocytosis, Hepatospl...	ORPHA:71275
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Proptosis, Premature ventricular contraction, Microceph...	OMIM:300855
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Decreased helper T cell proportion, T lymphocytopenia	OMIM:601705
Specific Granule Deficiency 1	Recurrent otitis media, Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaire...	OMIM:245480
Peroxisome Biogenesis Disorder 5A (Zellweger)	Sensorineural hearing impairment, Round face, Cholestasis, Death in adolescence, Death in infancy...	OMIM:614866
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Absent stapes, Triangular face, Sensorineural hearing impairment...	OMIM:301022
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Long face, Microtia, Attached earlo...	ORPHA:1327
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Proximal 16P11.2 Microduplication Syndrome	Congenital diaphragmatic hernia, Decreased body mass index, Microtia, Microcephaly, Frontal bossi...	ORPHA:370079
Al-Raqad Syndrome	Short nose, Low-set ears, Microcephaly, Flat face, Atrial septal defect, Deeply set eye	OMIM:616459
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Pericardial lymphangiectasia, Intestinal lymphangiectasia, Microtia, Camptodactyly, Abnormal faci...	OMIM:616006
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Atrioventricular block, Atrial septal...	ORPHA:371428
Immunodeficiency, Common Variable, 2	Hepatomegaly, Recurrent otitis media, Lymphadenopathy, Partial absence of specific antibody respo...	OMIM:240500
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy	ORPHA:71212
Congenital Erythropoietic Porphyria	Neoplasm of the skin, Squamous cell carcinoma	ORPHA:79277
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Hematuria, Increased circulating IgA level, Thrombocytopenia, Glomerulonephritis	OMIM:314000
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Fucosidosis	Abnormality of skull size, Hepatomegaly, Coarse facial features, Vacuolated lymphocytes, Low-set ...	OMIM:230000
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Skeletal muscle atrophy	OMIM:219080
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev...	OMIM:300635
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Cholelithiasis, Normochromic anemia, Nonspherocytic hemolytic anemia...	OMIM:235700
Pheochromocytoma	Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Positive regitine blocking ...	OMIM:171300
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Mucolipidosis Type Ii	Sensorineural hearing impairment, Cardiomyopathy, Shallow orbits, Abnormal mitral valve morpholog...	ORPHA:576
Hennekam Syndrome	Ectopic kidney, Lymphadenopathy, Abnormal pinna morphology, Decreased circulating antibody level,...	ORPHA:2136
Wars2-Related Combined Oxidative Phosphorylation Defect	Limb hypertonia, Cardiomyopathy, Low-set ears, Abnormal facial shape, Generalized amyotrophy, Thr...	ORPHA:572798
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Atrial septal defect, Triangular face, Right bundle branch block, Low-s...	OMIM:617403
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenopathy, Failure to thriv...	OMIM:603553
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hypertension	OMIM:612924
Garg-Mishra Progeroid Syndrome	Secondary microcephaly, Postnatal growth retardation, Triangular face, Microvesicular hepatic ste...	OMIM:620601
Mogs-Cdg	Hepatomegaly, Prominent occiput, Sensorineural hearing impairment, Decreased circulating antibody...	ORPHA:79330
Johanson-Blizzard Syndrome	Short nose, Anemia, Hypospadias, Dextrocardia, Hypoplasia of penis, Sensorineural hearing impairm...	ORPHA:2315
Fanconi Anemia, Complementation Group B	Aplastic anemia, Low-set ears, Death in infancy, Growth delay, Thrombocytopenia, Patent ductus ar...	OMIM:300514
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction	OMIM:208060
Alg12-Cdg	Progressive microcephaly, Abnormal pinna morphology, Sensorineural hearing impairment, Intrauteri...	ORPHA:79324
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hypertension	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hypertension	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hypertension	OMIM:612926
Igg4-Related Pachymeningitis	Pancreatitis, Lymphadenitis, Nephritis, Increased circulating IgG4 level, Eosinophilia, Lower lim...	ORPHA:449427
Brucellosis	Miscarriage, Granuloma, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Increased circulatin...	ORPHA:1304
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Tetrasomy 5P	Postnatal growth retardation, Congestive heart failure, Short nose, Macrocephaly, Low-set ears, P...	ORPHA:3309
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Pericarditis, Bone marrow hypoc...	ORPHA:829
Smooth Muscle Dysfunction Syndrome	Atrial septal defect, Hypertension, Hypoperistalsis, Pulmonary arterial hypertension	OMIM:613834
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension	OMIM:615830
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Turricephaly, Prominent occiput, Sensorineural hearing impairment, Round face, Microcephaly, Bicu...	OMIM:612474
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Heart m...	ORPHA:860
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Hypospadias, Glandular hypospadias, Megaloblastic anemia, Folate-unresponsive megaloblastic anemi...	ORPHA:2575
Shwachman-Diamond Syndrome	Aplastic anemia, Macrocytic anemia, Chronic neutropenia, Bone marrow hypocellularity, Abnormal he...	ORPHA:811
Hereditary Elliptocytosis	Postnatal growth retardation, Hydrops fetalis, Skin ulcer, Jaundice, Cholelithiasis, Reticulocyto...	ORPHA:288
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-posi...	OMIM:619375
Lathosterolosis	Anisopoikilocytosis, Short nose, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Bip...	ORPHA:46059
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Thrombocytopenia, Paris-Trousseau Type	Trigonocephaly, Thrombocytopenia	OMIM:188025
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension, Decreased heart rate variability	OMIM:105120
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79408
Acute Erythroid Leukemia	Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Monoclonal i...	ORPHA:318
Thyrocerebroretinal Syndrome	Sensorineural hearing impairment, Nephritis, Thrombocytopenia, Skeletal muscle atrophy	OMIM:274240
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	ORPHA:263455
Craniofacioskeletal Syndrome	Triangular face, Hypospadias, Microtia, Microcephaly, Short stature, Hydronephrosis, Posteriorly ...	OMIM:300712
Thanatophoric Dysplasia Type 2	Macrocephaly, Cloverleaf skull, Proptosis, Hearing impairment, Frontal bossing, Short stature, Pa...	ORPHA:93274
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Enlarged tonsils, Leukopenia, Pancytopenia, Renal tubular acidosis, ...	ORPHA:2785
Melas	Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers,...	ORPHA:550
Yuan-Harel-Lupski Syndrome	Triangular face, Hearing impairment, Failure to thrive, Bicuspid aortic valve, Ventricular septal...	OMIM:616652
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Limb hypertonia, Microcephaly, Abnormal facial shape, Failure to thrive,...	OMIM:613489
Jacobsen Syndrome	Short nose, Annular pancreas, Macrocephaly, Hypospadias, Low-set ears, Trigonocephaly, Microcepha...	OMIM:147791
Cowden Syndrome 6	Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meningioma, Ovarian cyst, Th...	OMIM:615109
Renpenning Syndrome 1	Microcephaly, Hypospadias, Long face, Phimosis, Camptodactyly, Hearing impairment, Short stature,...	OMIM:309500
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Osteogenesis Imperfecta	Mixed hearing impairment, Prominent occiput, Relative macrocephaly, Mitral valve prolapse, Intrau...	ORPHA:666
Aicardi-Goutieres Syndrome 9	Hypertension, Ascites, Microcephaly, Pericarditis, Lower limb hypertonia, Left ventricular hypert...	OMIM:619487
Cree Mental Retardation Syndrome	Brachycephaly, Triangular face, Hypospadias, Low-set ears, Posteriorly rotated ears, Hypertelorism	OMIM:606851
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Myositis, Failure to...	OMIM:617591
Lipodystrophy, Familial Partial, Type 3	Hypertension	OMIM:604367
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Thrombocytopenia, Leukocytosis, Cerebral vasculitis	ORPHA:83601
8P11.2 Deletion Syndrome	Hypoplasia of penis, Abnormal pinna morphology, Spherocytosis, Microcephaly, Short stature, Growt...	ORPHA:251066
Refsum Disease, Classic	Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly	OMIM:266500
Intellectual Developmental Disorder, X-Linked 30	Short nose, Microcephaly, Macrotia, Short stature, Flat face, Deeply set eye	OMIM:300558
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension	OMIM:215600
Leukocyte Adhesion Deficiency Type Ii	Hepatomegaly, Anemia, Recurrent otitis media, Small for gestational age, Small earlobe, Microtia,...	ORPHA:99843
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Chylopericardium, Ascites, Pulmonary arterial hypertensio...	ORPHA:2414
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Short nose, Hepatomegaly, Death in childhood, Decreased heart rate variability, De...	OMIM:619005
3M Syndrome	Triangular face, Hypospadias, Scapular winging, Short stature, Frontal bossing, Dolichocephaly, P...	ORPHA:2616
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Antenatal intracerebral hemorrhage, Knee flexion contracture, Elbow flexion contracture, Arrhythm...	OMIM:608836
Alport Syndrome 2, Autosomal Recessive	Hypertension	OMIM:203780
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Macrocephaly, Anemia, Melena, Cachexia, Low-set ears, Abnormal facia...	ORPHA:79076
Shigellosis	Myocarditis, Acute kidney injury, Urethritis, Hemolytic-uremic syndrome, Splenic abscess, Cholest...	ORPHA:810
Joubert Syndrome 27	Frontal bossing, Triangular face	OMIM:617120
22Q11.2 Deletion Syndrome	Chronic otitis media, Gastrointestinal hemorrhage, Corneal neovascularization, Turricephaly, Smal...	ORPHA:567
Ohdo Syndrome, X-Linked	Triangular face, Long face, Microtia, Low-set ears, Decreased body weight, Hearing impairment, Hy...	OMIM:300895
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Round face, Low-set ears, Camptodactyly, Microcephaly, Short stature, Growth delay, Flat face, Hy...	OMIM:617333
Alagille Syndrome 1	Long nose, Cholestasis, Prolonged neonatal jaundice, Stage 5 chronic kidney disease, Renal tubula...	OMIM:118450
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Sialuria	Macrocephaly, Increased level of N-acetylneuraminic acid in urine, Hepatomegaly, Coarse facial fe...	OMIM:269921
Plummer-Vinson Syndrome	Pallor, Hypochromic microcytic anemia, Iron deficiency anemia	ORPHA:54028
Frasier Syndrome	Hypertension	ORPHA:347
Short Syndrome	Triangular face, Sensorineural hearing impairment, Severe short stature, Weight loss, Deeply set ...	ORPHA:3163
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Trichohepatoenteric Syndrome 1	Microtia, Cholestasis, Proptosis, Pulmonic stenosis, Renal cortical microcysts, Splenomegaly, Int...	OMIM:222470
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis	OMIM:619658
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Hematuria, Thrombocytopenia, Cerebral hemorrhage, Epistaxis, Hemorrh...	ORPHA:3002
Fixed Subaortic Stenosis	Pulmonic stenosis, Abnormal heart morphology, Left ventricular hypertrophy, Bicuspid aortic valve...	ORPHA:3092
Hemophagocytic Lymphohistiocytosis, Familial, 1	Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Failure to thrive, Thrombocyto...	OMIM:267700
Pheochromocytoma/Paraganglioma Syndrome 1	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:168000
Sandhoff Disease	Urinary incontinence, Hepatomegaly, Orthostatic hypotension, Death in childhood, Macrocephaly, Co...	OMIM:268800
Zellweger Syndrome	Jaundice, Hepatomegaly, Hypospadias, Macrocephaly, Flat face, Sensorineural hearing impairment, A...	ORPHA:912
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Secundum atrial septal defect, Hypertension	OMIM:619758
Meier-Gorlin Syndrome 5	Triangular face, Small earlobe, Microtia, Low-set ears, Microcephaly, Short stature, Failure to t...	OMIM:613805
Osteogenesis Imperfecta, Type Xiii	Triangular face, Enuresis nocturna, Decreased body weight, Hearing impairment, Short stature, Ske...	OMIM:614856
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Immunodeficiency 89 And Autoimmunity	Hypochromic microcytic anemia, Increased circulating IgG level, Increased circulating IgE level, ...	OMIM:619632
Immunodeficiency By Defective Expression Of Mhc Class Ii	Autoimmune hemolytic anemia, Acute otitis media, Sclerosing cholangitis, Pancytopenia, Panhypogam...	ORPHA:572
Nephronophthisis 1	Hypertension	OMIM:256100
Ohdo Syndrome, Sbbys Variant	Dilated cardiomyopathy	OMIM:603736
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly	OMIM:214900
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hypertension	OMIM:612925
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr...	ORPHA:216694
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Low-set, posteriorly rotated ears, Impaired T cell function, Abnormality ...	ORPHA:30
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Brachycephaly, Plagiocephaly, Hepatomegaly, Ascites, Microcephaly, Lower limb hypertonia, General...	OMIM:301072
Pde4D Haploinsufficiency Syndrome	Brachycephaly, Postnatal growth retardation, Short nose, Hypotelorism, Hypospadias, Broad face, H...	ORPHA:439822
Serotonin Syndrome	Tachycardia, Rhabdomyolysis, Hypertension, Hypotension	ORPHA:43116
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Anemia, Ectopic kidney, Macrocytic anemia, Morgagni diaphragmati...	OMIM:613309
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Triangular face, Generalized muscular appearance from birth, Cardiomyopa...	OMIM:608594
Monosomy 18P	Hypertension	ORPHA:1598
Wiedemann-Rautenstrauch Syndrome	Small earlobe, Proptosis, Intrauterine growth retardation, Hypospadias, Short stature, Frontal bo...	OMIM:264090
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Anemia, Pancreatitis, Dysuria, Thrombocytopenia, Abnormal myocardium...	ORPHA:36426
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Pallor	ORPHA:90036
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Recurrent otitis media, Reduced antigen-specific ...	OMIM:616433
Fanconi Anemia	Abnormal pinna morphology, Proptosis, Microcephaly, Leukopenia, Intrauterine growth retardation, ...	ORPHA:84
Mesomelia-Synostoses Syndrome	Hearing impairment, Hydronephrosis, Triangular face, Short stature	ORPHA:2496
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe failure to thrive, Rhizomelia, Sensorineural hearing impairment, Microcephaly, Frontal bos...	OMIM:215100
Fabry Disease	Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi...	ORPHA:324
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Macrocephaly, Periportal fibrosis, Patent foramen ovale, Abnormal pinna morphology,...	OMIM:269860
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension	OMIM:617763
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Sensorineural hearing impairment, Leukocytosis, Splenomegaly	OMIM:611762
Avian Influenza	Acute kidney injury, Congestive heart failure, Miscarriage, Rhabdomyolysis, Thrombocytopenia, Leu...	ORPHA:454836
17Q11 Microdeletion Syndrome	Rhabdomyosarcoma, Cerebellar glioma, Multiple mucosal neuromas, Pheochromocytoma, Glomus jugular ...	ORPHA:97685
Harderoporphyria	Increased urine harderoporphyrin level, Hepatomegaly, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Hypotonia, Ataxia, And Delayed Development Syndrome	Triangular face, Oval face, Long face, Small earlobe, Vesicoureteral reflux, Low-set ears, Microc...	OMIM:617330
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Lymphedema, Leukocyte inclusion bodies, Secundum atrial septal de...	OMIM:223350
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	ORPHA:73224
Coronary Arterial Fistula	Aortic valve stenosis, Abnormal heart morphology, Bicuspid aortic valve, Cardiomegaly, Right vent...	ORPHA:2041
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa...	OMIM:153670
Chops Syndrome	Short nose, Coarse facial features, Patent foramen ovale, Vesicoureteral reflux, Round face, Prop...	OMIM:616368
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hyperostosis cranialis interna, Refrac...	OMIM:231095
Osteogenesis Imperfecta, Type V	Short stature, Triangular face	OMIM:610967
Trichorhinophalangeal Syndrome Type 1	Triangular face, Short stature, Camptodactyly of finger, Frontal bossing, Macrotia, Protruding ear	ORPHA:77258
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Elevated urinary vanillylmandelic acid, Lymphadenop...	ORPHA:635
Dubowitz Syndrome	Postnatal growth retardation, Anemia, Hypospadias, Low-set, posteriorly rotated ears, Abnormal an...	ORPHA:235
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Triangular face, Hypospadias, Hypotelorism, Renal insufficiency, ...	OMIM:300661
Khan-Khan-Katsanis Syndrome	Short nose, Ureteral duplication, Anemia, Sensorineural hearing impairment, Patent foramen ovale,...	OMIM:618460
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Hepatocellular carcinoma, Cardiomyopathy, Asci...	OMIM:235200
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal...	OMIM:616278
Poikiloderma With Neutropenia	Short nose, Recurrent otitis media, Neutropenia, Short stature, Frontal bossing, Growth delay, Le...	OMIM:604173
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly...	OMIM:210250
Congenital Disorder Of Glycosylation, Type Iie	Congestive heart failure, Perimembranous ventricular septal defect, Jaundice, Hepatomegaly, Short...	OMIM:608779
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Renal Agenesis	Hypertension, Ventricular septal defect	ORPHA:411709
Alpha-Mannosidosis, Infantile Form	Mixed hearing impairment, Sensorineural hearing impairment, Proptosis, Craniosynostosis, Myopathy...	ORPHA:309282
Hurler Syndrome	Hepatomegaly, Coarse facial features, Angina pectoris, Abnormality of the tonsils, Abnormal heart...	ORPHA:93473
Osteopathia Striata-Cranial Sclerosis Syndrome	Brachycephaly, Macrocephaly, Flat face, Facial palsy, Low-set ears, Aortic valve stenosis, Fronta...	ORPHA:2780
Ruijs-Aalfs Syndrome	Triangular face, Hepatocellular carcinoma, Elbow flexion contracture, Decreased body weight, Shor...	OMIM:616200
Diffuse Cutaneous Systemic Sclerosis	Congestive heart failure, Hypertensive crisis, Pulmonary arterial hypertension, Flexion contractu...	ORPHA:220393
Lysinuric Protein Intolerance	Hepatomegaly, Anemia, Hemophagocytosis, Oroticaciduria, Pancreatitis, Short stature, Failure to t...	OMIM:222700
Glycogen Storage Disease Iv	Bradycardia, Cardiomyopathy, Portal hypertension, Flexion contracture, Skeletal muscle atrophy, A...	OMIM:232500
Acute Interstitial Pneumonia	Pericardial effusion, Hypertension	ORPHA:79126
Adenine Phosphoribosyltransferase Deficiency	Atrial fibrillation, Hypertension	ORPHA:976
Combined Immunodeficiency Due To Crac Channel Dysfunction	Chronic otitis media, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Myopathy, He...	ORPHA:169090
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Hemolytic-uremic syndrome, Transient ischemic attack, Reticulocytosis, Microscopic hema...	OMIM:274150
Cutis Laxa, Autosomal Recessive, Type Iiib	Triangular face, Prominent ear helix, Elbow flexion contracture, Posteriorly rotated ears, Flexio...	OMIM:614438
Peroxisome Biogenesis Disorder 1A (Zellweger)	Sensorineural hearing impairment, Round face, Brachyturricephaly, Prolonged neonatal jaundice, Re...	OMIM:214100
Chromosome 17Q12 Duplication Syndrome	Atrial septal defect, Triangular face, Deeply set eye, Facial hypotonia	OMIM:614526
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Multiple Endocrine Neoplasia, Type Iia	Palpitations, Hypertension	OMIM:171400
Intellectual Developmental Disorder, Autosomal Recessive 45	Round face, Hypertelorism, Flat face, Deeply set eye, Coarse facial features, Wide nasal bridge	OMIM:615979
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Wolff-Parkinson-White syndrome, Hypertension, Ventricular septal ...	OMIM:614947
Poliomyelitis	Hypoplasia of the musculature, Hypertension, Abnormal skeletal muscle morphology, Hypovolemic sho...	ORPHA:2912
Cronkhite-Canada Syndrome	Macrocephaly, Hepatomegaly, Anemia, Cachexia, Splenomegaly	ORPHA:2930
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema, Cerebral edema	ORPHA:439218
Joubert Syndrome 14	Hypertension, Ventricular septal defect, Intracranial hemorrhage	OMIM:614424
Simple Cryoglobulinemia	Congestive heart failure, Gastrointestinal hemorrhage, Vasculitis, Hypertension, Pericarditis, Ab...	ORPHA:91139
Orofaciodigital Syndrome Xv	Low-set ears, Hydronephrosis, Flat face, Hypertelorism, Wide nasal bridge	OMIM:617127
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Short nose, Triangular face, Hypotelorism, Round face, Intrauter...	OMIM:301044
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Anemia, Neutropenia, Pancreatitis, Dysuria, Thrombocytopenia, Abnorm...	ORPHA:537
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Cachexia, Leukocytosis, Microscopic hematuria, Failu...	ORPHA:77297
Kbg Syndrome	Epispadias, Brachycephaly, Triangular face, Round face, Microcephaly, Macrotia, Short stature, Po...	OMIM:148050
Immunodeficiency 10	Autoimmune hemolytic anemia, Increased circulating IgG3 level, Hepatomegaly, Recurrent otitis med...	OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Neph...	OMIM:618935
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Microcephaly, Prolonged neonatal jaundice, Splenomegaly, Hepatic steat...	OMIM:619418
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic...	ORPHA:67044
Methylmalonic Aciduria, Cbla Type	Elevated urine 3-hydroxypropionic acid level, Hepatomegaly, Anemia, Pancytopenia, Elevated urine ...	OMIM:251100
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sensorineural hearing impairment, Decreased cir...	OMIM:616084
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis	ORPHA:79430
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly, Nonimmune hydrops fetalis, Anemia, Intrauterine growth retardation	OMIM:618838
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Acquired Purpura Fulminans	Thrombocytopenia, Intracranial hemorrhage, Internal hemorrhage, Shock	ORPHA:49566
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Ascites, Retinal hemorrhage,...	ORPHA:464321
Al Amyloidosis	Gastrointestinal hemorrhage, Increased circulating antibody level, Abnormal heart morphology, Abn...	ORPHA:85443
Diamond-Blackfan Anemia 11	Unilateral renal agenesis, Anemia of inadequate production, Atresia of the external auditory cana...	OMIM:614900
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension	OMIM:610475
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Cantu Syndrome	Bicuspid aortic valve, Large for gestational age, Macrocephaly, Pericardial effusion, Congenital ...	OMIM:239850
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Progressive hearing impairment, Acute monocytic ...	ORPHA:514
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula...	OMIM:615122
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Hypoplasia of penis, Sensorineural hearing impairment, Death in infancy, Microcephaly, Sh...	ORPHA:847
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Tolchin-Le Caignec Syndrome	Triangular face, Cardiac rhabdomyoma, Prominent occiput, Long face, Sensorineural hearing impairm...	OMIM:618971
Gaucher Disease	Delayed puberty, Increased circulating antibody level, Death in infancy, Leukopenia, Splenomegaly...	ORPHA:355
Carney Triad	Gastrointestinal hemorrhage, Leiomyosarcoma, Hypertension, Arrhythmia, Tachycardia	ORPHA:139411
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hepatomegaly, Macrocephaly, Cachexia, Skeletal muscle atrophy, Distal arth...	ORPHA:42
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Large for gestational age, Macrocephaly, Triangular face, Long face, Low-set ears, Proptosis, Fro...	OMIM:617011
16P11.2P12.2 Microdeletion Syndrome	Chronic otitis media, Long nose, Short nose, Hypotelorism, Long face, Abnormal pinna morphology, ...	ORPHA:261211
Methylcobalamin Deficiency Type Cble	Lower limb hypertonia, Hypertension	ORPHA:2169
Noonan Syndrome 3	Short nose, Juvenile myelomonocytic leukemia, Tricuspid valve prolapse, Patent foramen ovale, Low...	OMIM:609942
Abruzzo-Erickson Syndrome	Hypospadias, Sensorineural hearing impairment, Short stature, Macrotia, Conductive hearing impair...	ORPHA:921
Chédiak-Higashi Syndrome	Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast cells, Pancytopenia, Abnor...	ORPHA:167
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Long nose, Limb hypertonia, Sensorineural hearing impairment, Microcephaly, Thrombocytopenia, Atr...	ORPHA:457351
Mucopolysaccharidosis Type 1	Chronic otitis media, Congestive heart failure, Macrocephaly, Abnormal aortic valve morphology, A...	ORPHA:579
Adams-Oliver Syndrome 6	Truncus arteriosus, Ventricular septal defect, Portal hypertension, Tricuspid regurgitation, Rena...	OMIM:616589
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Exercise-induced myoglobinuria, Dicarboxylic aciduria, Hepatomegaly, Reduced left ventricular eje...	OMIM:201475
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Sensorineural hearing impairment, Vesicoureteral reflux, Microcephaly, Renal hypoplasia, Abnormal...	ORPHA:464288
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Hypertension, Cardiomyopathy, Upper limb muscle w...	ORPHA:892
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Anemia, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increa...	OMIM:617300
Primary Progressive Freezing Gait	Hypertension	ORPHA:75567
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Myositis, Increased...	OMIM:620565
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Chronic hemolytic anemia, Jaundice, Myopathy, Normoc...	OMIM:615512
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary cort...	ORPHA:652
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Anemia, Iron deficiency anemia, Ascites, Generalized edema, Growth delay, Edema, Th...	OMIM:226300
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombo...	ORPHA:158048
Distal Duplication 5Q	Short nose, Dextrocardia, Hypospadias, Low-set ears, Microcephaly, Macrotia, Short stature, Flat ...	ORPHA:96097
Osteogenesis Imperfecta, Type X	Death in childhood, Triangular face, Rhizomelia, Relative macrocephaly, Nephrolithiasis, Shallow ...	OMIM:613848
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Long nose, Rhabdomyosarcoma, Recurrent otitis media, Dysgammaglobuli...	OMIM:251260
Bacterial Toxic-Shock Syndrome	Myocarditis, Shock, Renal insufficiency, Capillary leak, Myositis, Increased circulating myelocyt...	ORPHA:36234
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Large for gestational age, Macrocephaly, Triangular face, Low-set, posteriorly rotated ears, Faci...	ORPHA:457359
Nizon-Isidor Syndrome	Deeply set eye, Hypertelorism, Triangular face, Hypospadias	OMIM:618872
Birk-Landau-Perez Syndrome	Hypertension, Limb hypertonia, Facial hypotonia	OMIM:617595
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Death in childhood, Decreased circulating antibody level, Death in adolescence, Leukocytosis, Dea...	OMIM:618042
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bradycardia, Hypertension, Retinal hemorrhage, Flexion contracture, Tachycardia, Ventricular sept...	OMIM:614653
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Anemia, Focal segmental glomerulosclerosis, Renal cyst, Short stature, Chronic kidney disease, In...	OMIM:617056
Seckel Syndrome 10	Congestive heart failure, Hypertension, Ventricular hypertrophy	OMIM:617253
Porphyria, Acute Intermittent	Tachycardia, Hypertension	OMIM:176000
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Hypertension, Portal hypertension, Raynaud phenomenon, Dilated cardiomyopathy	OMIM:615688
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	OMIM:614052
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Calvarial hyperostosis, Failure to thriv...	OMIM:612714
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormal pancreas morphology, Renal insufficiency, Lymphadenopathy, Increased circul...	ORPHA:449432
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Decreased circulating antibody level, Thrombocytopenia	OMIM:616576
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hypertension, Mitral valve prolapse	ORPHA:449291
Legionnaires Disease	Myocarditis, Jaundice, Hematuria, Pancreatitis, Lymphadenopathy, Hypotension, Hepatitis, Pericard...	ORPHA:549
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Hearing impairment, Splenomegaly, Co...	OMIM:252900
Distal Monosomy 7Q36	Abnormal calvaria morphology, Hypoplasia of penis, Microcephaly, Macrotia, Short stature, Large f...	ORPHA:1636
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Low-set ears, Triangular face, Aplasia/Hypoplasia of the pancreas	ORPHA:65288
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Fulminant hepatitis, Leukocytosis, Hypotension, Microscopic hematuria, ...	ORPHA:319213
Osteopetrosis, Autosomal Dominant 3	Thickened calvaria, Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Carnitine Deficiency, Systemic Primary	Congestive heart failure, Dicarboxylic aciduria, Hepatomegaly, Microvesicular hepatic steatosis, ...	OMIM:212140
Peroxisome Biogenesis Disorder 7A (Zellweger)	Jaundice, Hepatomegaly, Flat face, Low-set ears, Death in infancy, Posteriorly rotated ears, Flat...	OMIM:614872
Familial Thrombocytosis	Acute myeloid leukemia, Miscarriage, Transient ischemic attack, Cerebral ischemia, Pulmonary arte...	ORPHA:71493
Fumarase Deficiency	Perimembranous ventricular septal defect, Intrahepatic cholestasis, Polyhydramnios, Ascites, Poly...	OMIM:606812
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Anemia, Mediastinal lymphadenopathy, Myos...	ORPHA:3452
Ivic Syndrome	Pectoralis major hypoplasia, Hypoplasia of deltoid muscle, Leukocytosis, Hearing impairment, Fron...	OMIM:147750
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Rhabdomyolysis, Patent foramen ovale, Concentric hypertrophic cardiomyopathy	OMIM:610505
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Urinary incontinence, Small earlobe, Microtia, Microcephaly, Intrauterine growth retar...	OMIM:619522
Congenital Myopathy 17	Triangular face, Low-set ears, Proptosis, Renal hypoplasia, Hydronephrosis, Ureteropelvic junctio...	OMIM:618975
Glycogen Storage Disease Xii	Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi...	OMIM:611881
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary ar...	OMIM:614008
Systemic Capillary Leak Syndrome	Myocarditis, Pancreatitis, Leukocytosis, Hypotension, Pericarditis, Weight loss, Arrhythmia, Olig...	ORPHA:188
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis...	ORPHA:50918
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Increased circulating antibody level, Acute pancreatitis, Th...	ORPHA:319218
Gm1-Gangliosidosis, Type Ii	Sea-blue histiocytosis, Hepatomegaly, Failure to thrive, Splenomegaly, Patent ductus arteriosus, ...	OMIM:230600
Meier-Gorlin Syndrome 3	Triangular face, Hypospadias, Microtia, Low-set ears, Microcephaly, Short stature, Failure to thr...	OMIM:613803
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Sensorineural hearing impairment, Shallow orbits, Microcephaly, ...	OMIM:613406
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ...	OMIM:187900
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Farber Disease	Anemia, Lymphadenopathy, Intrahepatic cholestasis with episodic jaundice, Ascites, Abnormal facia...	ORPHA:333
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Proteasome-Associated Autoinflammatory Syndrome 1	Flexion contracture of toe, Increased circulating antibody level, Proptosis, Death in adolescence...	OMIM:256040
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Dense calvaria, Asymmetric septal hypertrophy, Hearing impairment, Dolichocephaly, ...	OMIM:252930
Acute Radiation Syndrome	Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia	ORPHA:454831
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Death in childhood, Tr...	OMIM:618651
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Low-set ears, Ascites, Proptosis, Death in infancy, Hy...	OMIM:235255
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Caudal Regression Syndrome	Decreased muscle mass, Hypertension	ORPHA:3027
Mannosidosis, Alpha B, Lysosomal	Hepatomegaly, Macrocephaly, Coarse facial features, Vacuolated lymphocytes, Sensorineural hearing...	OMIM:248500
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ischemic stroke, Aortic regurgitation, Hypertension, Ventricular...	OMIM:208050
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Hypotelorism, Camptodactyly, Asplenia, Pulmonic stenosis, Microcep...	OMIM:619123
Cardiofaciocutaneous Syndrome 1	Short nose, Macrocephaly, Anterior creases of earlobe, Relative macrocephaly, Low-set ears, Propt...	OMIM:115150
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Macrocephaly, Coarse facial features, Recurrent otitis media, Elbow flexion contrac...	OMIM:252940
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Mitochondrial Dna-Associated Leigh Syndrome	Ragged-red muscle fibers, Dilated cardiomyopathy, Cardiac conduction abnormality, Hypertrophic ca...	ORPHA:255210
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp...	OMIM:306955
Dravet Syndrome	Pallor	ORPHA:33069
Hypocalcemic Vitamin D-Dependent Rickets	Postnatal growth retardation, Hepatomegaly, Generalized aminoaciduria, Cardiomyopathy, Leukocytos...	ORPHA:289157
Craniofaciofrontodigital Syndrome	Congestive heart failure, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aor...	ORPHA:363705
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Delayed puberty, Hepatocellular adenoma, Cirrhosis, Anemia, Portal fibrosis, Hepatomegaly, Renal ...	ORPHA:264580
Infantile Liver Failure Syndrome 2	Cardiomyopathy	OMIM:616483
Primary Triglyceride Deposit Cardiomyovasculopathy	Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Abnormalit...	ORPHA:565612
Sporadic Pheochromocytoma/Secreting Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:276621
Blepharophimosis-Impaired Intellectual Development Syndrome	Plagiocephaly, Hypospadias, Low-set ears, Enuresis, Frontal bossing, Posteriorly rotated ears, Fl...	OMIM:619293
Mucopolysaccharidosis, Type Vii	Postnatal growth retardation, Hepatomegaly, Macrocephaly, Coarse facial features, Recurrent otiti...	OMIM:253220
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Spinal neurofibroma, Hemangioma, Optic nerve glioma, Schwannoma, Subcutaneous neurofibroma, Neuro...	ORPHA:363700
Larsen-Like Syndrome	Brachycephaly, Macrocephaly, Recurrent otitis media, Low-set ears, Short stature, Frontal bossing...	OMIM:608545
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Recurrent otitis media, Contracture of the distal interphalangeal j...	OMIM:605130
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Brachycephaly, Macrocephaly, Absent extraocular muscles, Sensorineural hearing impairment, Abnorm...	OMIM:109120
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation...	OMIM:602347
Hardikar Syndrome	Hematemesis, Intrahepatic bile duct dilatation, Hypertension, Cholestasis, Prolonged neonatal jau...	OMIM:301068
Cutis Laxa, Autosomal Recessive, Type Iic	Triangular face, Aortic regurgitation, Patent foramen ovale, Right bundle branch block, Low-set e...	OMIM:617402
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Facial asymmetry, Recurrent otitis media, Low-set ears, Bile duct prolifera...	OMIM:619525
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Flat face, Hypoplasia of the musculature, Macrotia, Thenar muscle atrophy, Dolichocephaly, Eunuch...	ORPHA:2463
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Dextrocardia, Macrocytic anemia, Coronary artery fistula, Dilata...	OMIM:614294
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Progressive flexion contractures, Torticollis	ORPHA:98808
Common Variable Immunodeficiency	Brachycephaly, Chronic otitis media, Lymphadenopathy, Vasculitis, Decreased circulating antibody ...	ORPHA:1572
15q26 overgrowth syndrome	Macrocephaly, Triangular face, Craniosynostosis, Polycystic kidney dysplasia, Long face, Vesicour...	DECIPHER:81
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Coarse facial features, Craniosynostosis, Increased circulating IgE level, Frontal bossing, Recur...	OMIM:147060
Renal-Hepatic-Pancreatic Dysplasia 1	Enlarged kidney, Hyperechogenic pancreas, Cholestasis, Biliary cirrhosis, Aortic valve stenosis, ...	OMIM:208540
Fructose-1,6-Bisphosphatase Deficiency	Hepatic steatosis, Pallor, Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:348
Achondrogenesis Type 1B	Short nose, Disproportionate short stature, Macrocephaly, Frontal bossing, Severe short stature, ...	ORPHA:93298
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Decreased glomerular filtration rate, Decreased urine output, Hypertension, Epistaxi...	ORPHA:340
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Thrombocytopenia, Deeply set eye, Hypotelorism	OMIM:616937
Sickle Cell Anemia	Ischemic stroke, Chronic hemolytic anemia, Jaundice, Iron deficiency anemia, Cholelithiasis, Incr...	ORPHA:232
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Ischemic stroke, Aortic regurgitation, Cardiomegaly, Hypertension, Transient ischemic attack, Hyp...	ORPHA:91387
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Sensorineural hearing impairment, Proptosis, Mic...	OMIM:122470
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hearing impairment, Frontal bossing, Triangular face, Short stature	ORPHA:3218
Coach Syndrome 1	Cirrhosis, Nephronophthisis, Hepatomegaly, Unilateral renal agenesis, Abnormal abdomen morphology...	OMIM:216360
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Brachycephaly, Moon facies, Triangular face, Recurrent otitis media, Limb hypertonia, Low-set ear...	OMIM:619950
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Epistaxis, Acanthocytosis, Congenital thrombocyt...	OMIM:300367
Complete Atrioventricular Septal Defect	Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car...	ORPHA:1329
Agammaglobulinemia 9, Autosomal Recessive	Sensorineural hearing impairment, Failure to thrive, Thrombocytopenia, Agammaglobulinemia, Absent...	OMIM:619693
Hermansky-Pudlak Syndrome 10	Hepatomegaly, Hypotelorism, Low-set ears, Microcephaly, Macrotia, Splenomegaly, Neutropenia	OMIM:617050
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Short nose, Hypotelorism, Low-set ears, Microcephaly, Short stature, Hypertelorism...	OMIM:614701
Craniofacial-Deafness-Hand Syndrome	Short nose, Sensorineural hearing impairment, Narrow face, Camptodactyly of finger, Flat face, Hy...	ORPHA:1529
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Neuroendocrine neoplasm, Small cell lung carcinoma, Pancreatic endocrine...	ORPHA:99889
Nephronophthisis-Like Nephropathy 1	Hypertension	OMIM:613159
Autosomal Dominant Cutis Laxa	Postnatal growth retardation, Congestive heart failure, Triangular face, Unilateral renal agenesi...	ORPHA:90348
Neuroblastoma, Susceptibility To, 1	Hypertension	OMIM:256700
Achondrogenesis	Short nose, Macrocephaly, Frontal bossing, Severe short stature, Flat face	ORPHA:932
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili...	ORPHA:1414
Ivic Syndrome	Leukocytosis, Hearing impairment, Severe short stature, Thrombocytopenia, Arrhythmia	ORPHA:2307
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Trigonocephaly, Splenomegaly, Heart murmur, Cardiomegaly, Craniosynostosis, Aort...	OMIM:252500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Reticulocytosis, Thrombocyt...	OMIM:235400
Codas Syndrome	Short nose, Hydroureter, Sensorineural hearing impairment, Short stature, Crumpled ear, Extrahepa...	ORPHA:1458
Sweet Syndrome	Small vessel vasculitis, Dilated cardiomyopathy, Myositis	ORPHA:3243
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Sensorineural hearing impairment, Camptodactyly, Pulmonary lymphangiectasia, Flat...	OMIM:235510
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Secondary microcephaly, Brachycephaly, Plagiocephaly, Hydroureter, Flat face, Pulmonic stenosis, ...	OMIM:610759
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Delayed puberty, Anemia, Cholelithiasis, Pancytopenia, Bacterial endocarditis, Spo...	ORPHA:2072
Dyssegmental Dysplasia, Silverman-Handmaker Type	Miscarriage, Low-set ears, Proptosis, Microcephaly, Abnormal heart morphology, Posteriorly rotate...	ORPHA:1865
Blau Syndrome	Flexion contracture of toe, Tendonitis, Hypertension, Camptodactyly of finger, Pericarditis	OMIM:186580
Aredyld Syndrome	Hepatomegaly, Low-set, posteriorly rotated ears, Craniofacial hyperostosis, Abnormal tragus morph...	ORPHA:1133
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ...	ORPHA:90362
Deeah Syndrome	Short nose, Hepatomegaly, Death in childhood, Decreased heart rate variability, Low-set ears, Dea...	OMIM:619004
Osteogenic Sarcoma	Osteosarcoma, Retinoblastoma	OMIM:259500
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Wiedemann-Rautenstrauch Syndrome	Relative macrocephaly, Cranial asymmetry, Severe intrauterine growth retardation, Pulmonic stenos...	ORPHA:3455
Caroli Syndrome	Hematemesis, Cirrhosis, Liver abscess, Jaundice, Melena, Intrahepatic cholestasis, Cholangitis, P...	ORPHA:480520
Amoebiasis Due To Entamoeba Histolytica	Lung abscess, Congestive heart failure, Liver abscess, Anemia, Leukocytosis, Abnormal pericardium...	ORPHA:67
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia, Epistaxis	OMIM:277480
Acromesomelic Dysplasia 4	Triangular face, Rhizomelia, Low-set ears, Short stature, Disproportionate short stature, Third d...	OMIM:619636
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Abn...	ORPHA:3162
Kleefstra Syndrome 1	Brachycephaly, Hypospadias, Coarse facial features, Abnormal pinna morphology, Microcephaly, Hear...	OMIM:610253
Alstrom Syndrome	Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:203800
Arthrogryposis, Distal, Type 2A	Postnatal growth retardation, Short nose, Flexion contracture of toe, Shoulder flexion contractur...	OMIM:193700
Spondylometaphyseal Dysplasia, Pagnamenta Type	Rhizomelia, Triangular face	OMIM:619638
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Vasculitis, Decreased mean platelet volume, Vasculitis in the ski...	OMIM:617718
Cushing Disease	Moon facies, Decreased eosinophil count, Hypertension, Increased body weight, Leukocytosis, Capil...	ORPHA:96253
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Proptosis, Coronal craniosynostosis, Hearing impairment, Short stature, Flat face, Wi...	OMIM:614078
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Short nose, Triangular face, Long face, Short stature, Frontal bossing, Posteriorl...	ORPHA:1974
Holocarboxylase Synthetase Deficiency	Organic aciduria, Thrombocytopenia, Weight loss, Growth delay	ORPHA:79242
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Vasculitis, Increased circulating ...	OMIM:617099
Kagami-Ogata Syndrome	Hepatomegaly, Microtia, Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Fron...	OMIM:608149
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Hellp Syndrome	Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Increased body weight, ...	ORPHA:244242
Desmosterolosis	Short nose, Macrocephaly, Abnormal earlobe morphology, Low-set, posteriorly rotated ears, Low-set...	ORPHA:35107
Porphyria Variegata	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension	ORPHA:79473
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia, Low-set ears, Flat face, Wide nasal bridge	OMIM:614859
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Coarse facial features, Abnormal atrioventricular valve...	ORPHA:324410
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Tachycardia, Hypertension, Orthostatic hypotension	OMIM:223900
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Intrauterine growth retardation, Hypertrophic cardiomyopathy	OMIM:614702
Mucopolysaccharidosis Type 3	Chronic otitis media, Mixed hearing impairment, Sensorineural hearing impairment, Abnormal mitral...	ORPHA:581
Beemer-Ertbruggen Syndrome	Wide nasal bridge, Thrombocytopenia, Low-set, posteriorly rotated ears	ORPHA:1237
Faciodigitogenital Syndrome, Autosomal Recessive	Brachycephaly, Short nose, Triangular face, Pollakisuria, Microtia, Camptodactyly, Proportionate ...	OMIM:227330
Trisomy 12P	Short nose, Turricephaly, Abnormal antihelix morphology, Low-set ears, Proptosis, Short stature, ...	ORPHA:1699
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Quebec Platelet Disorder	Thrombocytopenia, Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis	OMIM:601709
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Congenital diaphragmatic hernia, Bicuspid aortic valve, Rhizomelia, Flat face, Pat...	OMIM:245600
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Facial palsy,...	ORPHA:31826
Achondrogenesis Type 1A	Short nose, Macrocephaly, Frontal bossing, Severe short stature, Flat face	ORPHA:93299
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hepatomegaly, Pancreatitis, Abnormality of skeletal muscle fiber size, ...	ORPHA:2348
Thrombocytopenia-Absent Radius Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Tetralogy of Fallot, Thrombo...	ORPHA:3320
Gaucher Disease, Type Ii	Hepatomegaly, Anemia, Death in infancy, Failure to thrive, Thrombocytopenia, Splenomegaly	OMIM:230900
Bruck Syndrome	Short stature, Arthrogryposis multiplex congenita, Triangular face	ORPHA:2771
Pituitary Adenoma 4, Acth-Secreting	Hypertension, Skeletal muscle atrophy	OMIM:219090
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Anemia, Hepatomegaly, Hearing impairment, Bone marrow hypoce...	ORPHA:1775
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Bartter Syndrome, Type 2, Antenatal	Renal salt wasting, Polyuria, Macrocephaly, Triangular face, Hyperchloriduria, Hyperprostaglandin...	OMIM:241200
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Ornithine Transcarbamylase Deficiency	Splenomegaly	ORPHA:664
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Mixed Connective Tissue Disease	Myocarditis, Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopa...	ORPHA:809
Oligomeganephronia	Congenital diaphragmatic hernia, Secundum atrial septal defect, Hypertension	ORPHA:2260
Cranioectodermal Dysplasia 2	Portal fibrosis, Hypertension, Cholestasis, Biliary cirrhosis, Splenomegaly, Left ventricular hyp...	OMIM:613610
Vexas Syndrome	Arteritis, Macrocytic anemia, Sensorineural hearing impairment, Thrombocytopenia, Chondritis of p...	OMIM:301054
Thanatophoric Dysplasia Type 1	Macrocephaly, Cloverleaf skull, Proptosis, Hearing impairment, Frontal bossing, Patent ductus art...	ORPHA:1860
Beck-Fahrner Syndrome	Brachycephaly, Protruding ear, Macrocephaly, Facial hypotonia, Long face, Microcephaly, Cardiomeg...	OMIM:618798
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Roberts Syndrome	Brachycephaly, Postnatal growth retardation, Long penis, Polycystic kidney dysplasia, Abnormal pi...	ORPHA:3103
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Growth delay, Bone marrow hypocellularity, Thrombocytopenia	OMIM:613987
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Intrauterine growth retardation, Hypertrophic cardiomyopathy	OMIM:619051
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension	OMIM:610489
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Pancreatitis, Anuria, Hypertension, Leukocytosis, Reticulocytosis, Thrombocy...	ORPHA:90038
Familial Atrial Myxoma	Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,...	ORPHA:615
Intellectual Disability And Myopathy Syndrome	Flat face, Left ventricular systolic dysfunction, Achilles tendon contracture, Hypotelorism	OMIM:619719
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Increased circulating IgE level, Increased circulatin...	ORPHA:449563
3-Methylglutaconic Aciduria, Type Viia	Anisopoikilocytosis, 3-Methylglutaconic aciduria, Secondary microcephaly, Anemia, Neutropenia	OMIM:619835
Scorpion Envenomation	Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Premature ventricular cont...	ORPHA:466677
Gaucher Disease, Type Iiic	Hepatomegaly, Hydrocephalus, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic va...	OMIM:231005
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Hypochromic microcytic anemia, Absent brainstem auditory responses, Growth delay, Thrombocytopeni...	ORPHA:3240
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,...	OMIM:616100
Osteopetrosis, Autosomal Recessive 7	Increased head circumference, Hepatomegaly, Anemia, Death in childhood, Proptosis, Death in infan...	OMIM:612301
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Large for gestational age, Enlarged kidney, Macrocephaly, Abnormal right ventricle morphology, Se...	ORPHA:500095
Timothy Syndrome	Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Round face, Pulmonary art...	OMIM:601005
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
Thauvin-Robinet-Faivre Syndrome	Large for gestational age, Macrocephaly, Sensorineural hearing impairment, Round face, Renal cyst...	OMIM:617107
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Jaundice, Prolo...	ORPHA:57777
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Oculoskeletodental Syndrome	Hepatomegaly, Coarse facial features, Hypercalciuria, Elbow flexion contracture, Mucopolysacchari...	OMIM:618440
Renal Hypoplasia	Hypertension	ORPHA:93101
Transcobalamin Ii Deficiency	Hepatomegaly, Anemia, Erythroid hypoplasia, Macrocytic anemia, Pancytopenia, Reticulocytopenia, F...	OMIM:275350
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Recurrent otitis media, Hilar lymph node enlargement, ...	OMIM:620233
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Grant Syndrome	Brachycephaly, Short stature, Frontal bossing, Large face, Flat face, Facial asymmetry	ORPHA:2097
Lethal Congenital Contracture Syndrome 9	Abnormality of the diaphragm, Triangular face, Low-set ears, Wrist flexion contracture, Congenita...	OMIM:616503
Osteogenesis Imperfecta, Type Xi	Brachycephaly, Hearing impairment, Triangular face, Short stature	OMIM:610968
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Decreased circulating antibod...	ORPHA:169105
Hereditary Amyloidosis With Primary Renal Involvement	Congestive heart failure, Gastrointestinal hemorrhage, Hypertension, Myopathy	ORPHA:85450
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Microcephaly, Abnormal facial shape, Hearing impairment, Cardiomegal...	ORPHA:391428
Hajdu-Cheney Syndrome	Delayed puberty, Prominent occiput, Aortic valve stenosis, Splenomegaly, Multiple renal cysts, Hy...	ORPHA:955
Wagro Syndrome	Hypertension	OMIM:612469
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Prolonged QT interval, Hypoplasia of penis...	ORPHA:373
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Abnorma...	ORPHA:116
Paternal Uniparental Disomy Of Chromosome 1	Hypertension	ORPHA:251004
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Hydrops fetalis, Polyhydramnios, Abnormal tricuspid valve morphology, Anemia, Ventricular septal ...	ORPHA:3405
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Epistaxis, Impaired ADP-induced platelet aggreg...	OMIM:614074
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Increased circulating antibody level, Bradycardia, Capil...	ORPHA:99826
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Facial palsy, Hypertensive crisis, Skeletal muscle atroph...	ORPHA:1358
Low Phospholipid-Associated Cholelithiasis	Hypertension	ORPHA:69663
Aymé-Gripp Syndrome	Brachycephaly, Plagiocephaly, Congenital diaphragmatic hernia, Postnatal growth retardation, Shor...	ORPHA:1272
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Gastrointestinal hemorrhage, Hypertension, Cholestasis, Ascites, Biliary hyperpl...	ORPHA:731
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Squamous cell carcinoma of the skin	ORPHA:79396
Nicolaides-Baraitser Syndrome	Short nose, Triangular face, Microcephaly, Macrotia, Failure to thrive, Short stature, Posteriorl...	OMIM:601358
Multiple Sulfatase Deficiency	Hepatomegaly, Macrocephaly, Sensorineural hearing impairment, Mucopolysacchariduria, Microcephaly...	ORPHA:585
Camurati-Engelmann Disease	Delayed puberty, Hepatomegaly, Anemia, Cachexia, Facial palsy, Proptosis, Hypertrophic cardiomyop...	ORPHA:1328
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Increased circulating antibody level, Visceromegaly, Ascites, Pulm...	ORPHA:2905
Staphylococcal Necrotizing Pneumonia	Hypotension, Leukocytosis, Neutrophilia, Leukopenia, Shock	ORPHA:36238
Glycogen Storage Disease Ii	Increased muscle glycogen content, Urinary incontinence, Wolff-Parkinson-White syndrome, Hepatome...	OMIM:232300
Neuroleptic Malignant Syndrome	Acute kidney injury, Pulmonary embolism, Urinary incontinence, Bradycardia, Myoglobinuria, Hypert...	ORPHA:94093
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Microcephaly, Bone marrow hypocellularity, Thrombocytopenia, Hepat...	OMIM:224230
Lysinuric Protein Intolerance	Argininuria, Decreased glomerular filtration rate, Increased circulating antibody level, Renal fi...	ORPHA:470
Adams-Oliver Syndrome 1	Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Aortic valve stenosis, Tetralog...	OMIM:100300
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return	OMIM:618313
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Postnatal growth retardation, Hepatomegaly, Pancreatic lymphangiectasis, Low-set ears, Ascites, H...	ORPHA:1655
Lynch Syndrome	Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma...	ORPHA:144
Dyssegmental Dysplasia, Silverman-Handmaker Type	Disproportionate short-limb short stature, Microcephaly, Neonatal death, Posteriorly rotated ears...	OMIM:224410
Mucopolysaccharidosis Type 6	Chronic otitis media, Coarse facial features, Abnormal heart valve morphology, Mucopolysaccharidu...	ORPHA:583
Rift Valley Fever	Hematemesis, Jaundice, Hematuria, Anemia, Melena, Increased circulating IgG level, Miscarriage, R...	ORPHA:319251
3Q27.3 Microdeletion Syndrome	Low-set ears, Small earlobe, Deeply set eye, Triangular face	ORPHA:397695
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Hypertension, Portal hypertension	OMIM:263200
Autosomal Dominant Polycystic Kidney Disease	Hypertension, Mitral valve prolapse	ORPHA:730
Mucopolysaccharidosis, Type Vi	Pulmonary insufficiency, Hepatomegaly, Macrocephaly, Coarse facial features, Sinus tachycardia, C...	OMIM:253200
Aicardi-Goutières Syndrome	Plagiocephaly, Chronic lymphatic leukemia, Myositis, Neonatal alloimmune thrombocytopenia, Low-se...	ORPHA:51
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Postnatal growth retardation, Retinal telangiectasia, Anemia, Gastrointestinal telangiectasia, Sh...	OMIM:612199
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Hematuria, Melena, Neonatal alloimmune thrombocytopenia, Bilateral s...	ORPHA:853
Pheochromocytoma/Paraganglioma Syndrome 4	Tachycardia, Palpitations, Hypertension associated with pheochromocytoma	OMIM:115310
Distal Deletion 12Q	Ectopic kidney, Biliary atresia, Microtia, Microcephaly, Polycystic kidney dysplasia, Patent fora...	ORPHA:96149
Multiple Sulfatase Deficiency	Hepatomegaly, Mucopolysacchariduria, Hearing impairment, Short stature, Splenomegaly, Flat face, ...	OMIM:272200
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi...	OMIM:616028
Homozygous Familial Hypercholesterolemia	Tendon xanthomatosis, Abnormal tendon morphology, Angina pectoris, Hypertension, Mitral regurgita...	ORPHA:391665
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Growth delay, Splenomegaly, Pallor, Abnormal pulmonary valve morphology	ORPHA:667
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Long face, Microtia, Round face, Finger joint contracture, Hearing impairment, Failure to thrive,...	OMIM:620494
Familial Dysautonomia	Tachycardia, Hypertension, Orthostatic hypotension	ORPHA:1764
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature	OMIM:201470
Mucopolysaccharidosis Type 2, Severe Form	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Dermatan sulfate excretion in uri...	ORPHA:217085
Microphthalmia With Linear Skin Defects Syndrome	Congenital diaphragmatic hernia, Tricuspid valve prolapse, Hypertrophic cardiomyopathy, Tricuspid...	ORPHA:2556
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Mixed hearing impairment, Anemia, Hypercalciuria, Sensorineural hearing impairment, Patent forame...	OMIM:300990
Renal Hypoplasia, Bilateral	Hypertension	ORPHA:97362
Gastric Cancer	Stomach cancer	OMIM:613659
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Paroxysmal Nocturnal Hemoglobinuria	Hypertension, Abnormal erythrocyte enzyme concentration or activity, Reticulocytosis, Leukopenia,...	ORPHA:447
D-Bifunctional Protein Deficiency	Hepatomegaly, Macrocephaly, Cholestasis, Low-set ears, Renal cyst, Bile duct proliferation, Heari...	OMIM:261515
Bloom Syndrome	Decreased circulating total IgM, Acute myeloid leukemia, Recurrent tonsillitis, Decreased head ci...	ORPHA:125
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypertension, Camptodactyly, Mitral valve prolapse, Bicuspid aortic valve, ...	OMIM:611962
Alport Syndrome 1, X-Linked	Hypertension	OMIM:301050
Hereditary Pheochromocytoma-Paraganglioma	Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Cereb...	ORPHA:29072
Tangier Disease	Anemia, Facial diplegia, Chronic noninfectious lymphadenopathy, Coronary artery stenosis, Orange ...	ORPHA:31150
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Hypospadias, Dysplastic pulmonary valve, Vesicoureteral reflux, Round face, Low-set ears, Microce...	OMIM:619103
Tick-Borne Encephalitis	Increased circulating IgG level, Facial palsy, Leukocytosis, Hearing impairment, Abnormality of t...	ORPHA:297
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Rhabdomyosarcoma, Cachexia, Pollakisuria, Microcepha...	ORPHA:647
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Protruding ear, Iron deficiency anemia, Small earlobe, Proptosis, Abnormal antitragus morphology,...	ORPHA:93315
Digeorge Syndrome	Microcephaly, Splenomegaly, Abnormal thymus morphology, Hepatic steatosis, Truncus arteriosus, Sh...	OMIM:188400
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Schwartz-Jampel Syndrome, Type 1	Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertrophy, Low-set ea...	OMIM:255800
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten...	OMIM:620642
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Macrocephaly, Multicystic kidney dysplasia, Renal insufficiency, Intrahe...	ORPHA:1454
Down Syndrome	Brachycephaly, Atrioventricular canal defect, Patent ductus arteriosus, Flat face, Patent foramen...	OMIM:190685
Mucopolysaccharidosis Type 2, Attenuated Form	Sensorineural hearing impairment, Hypertension, Cardiomyopathy, Dermatan sulfate excretion in uri...	ORPHA:217093
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pancreatitis, Pleural empyema, Leukocytosis, Generalized edema, Thrombocytopenia, Ed...	ORPHA:544482
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Flat face, Conductive hearing impairment, Round face, Short stature	OMIM:132450
Cryptogenic Organizing Pneumonia	Neutrophilia, Leukocytosis, Weight loss	ORPHA:1302
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Glycogen Storage Disease Ia	Decreased muscle mass, Hypertension	OMIM:232200
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Postnatal growth retardation, Hepatocellular adenoma, Cirrhosis, Anemia, Hepatomegaly, Renal tubu...	ORPHA:79240
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Brachycephaly, Postnatal growth retardation, Large for gestational age, Macrocephaly, Recurrent o...	OMIM:213980
Floating-Harbor Syndrome	Atrial septal defect, Long nose, Mesocardia, Triangular face, Hypospadias, Polycystic kidney dysp...	ORPHA:2044
Caroli Disease	Cirrhosis, Liver abscess, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepato...	ORPHA:53035
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Alkaptonuria	Abnormal heart valve morphology, Hypertension, Thickened Achilles tendon, Mitral valve calcificat...	ORPHA:56
Mucopolysaccharidosis Type 2	Abnormal tricuspid valve morphology, Flexion contracture of digit, Abnormal heart valve morpholog...	ORPHA:580
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Microtia, Round face, Posteriorly rotated ears, Flat face, Hypertelorism,...	OMIM:602562
Fibrochondrogenesis 1	Stillbirth, Short nose, Rhizomelia, Patent foramen ovale, Abnormal pinna morphology, Low-set ears...	OMIM:228520
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Chronic pancreatitis, Sensorineural hearing impairment, Cardiomyopathy, Microcephal...	OMIM:610717
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na...	OMIM:600376
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Glycogen Storage Disease Ib	Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rat...	OMIM:232220
Cone-Rod Dystrophy 8	Pallor	OMIM:605549
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypotension	ORPHA:93256
Multiple Mitochondrial Dysfunctions Syndrome 7	Secondary microcephaly, Dolichocephaly, Thrombocytopenia, Partial atrioventricular canal defect	OMIM:620423
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertension	ORPHA:1555
Livedoid Vasculopathy	Ischemic stroke, Hypertension, Telangiectasia of the skin	ORPHA:542643
Tay-Sachs Disease	Pallor	OMIM:272800
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Short nose, Low-set ears, Short stature, Neonatal death, Flat face, Hypertelorism,...	OMIM:619859
Posterior Urethral Valve	Hypertension	ORPHA:93110
Developmental And Epileptic Encephalopathy 89	Macrocephaly, Death in childhood, Low-set ears, Neonatal death, Flexion contracture, Flat face, H...	OMIM:619124
Steinert Myotonic Dystrophy	Left ventricular systolic dysfunction, Abnormality of masticatory muscle, Weakness of facial musc...	ORPHA:273
Bohring-Opitz Syndrome	Annular pancreas, Severe failure to thrive, Low-set, posteriorly rotated ears, Cholelithiasis, Br...	ORPHA:97297
Histiocytoid Cardiomyopathy	Hepatomegaly, Hydrocephalus, Cardiomegaly, Pallor, Ventricular septal defect	ORPHA:137675
Zimmermann-Laband Syndrome 1	Hepatomegaly, Macrocephaly, Long penis, Cardiomyopathy, Nephrolithiasis, Low-set ears, Hearing im...	OMIM:135500
Blue Rubber Bleb Nevus	Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding	OMIM:112200
Alport Syndrome 3A, Autosomal Dominant	Hypertension	OMIM:104200
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Myopathy, Mitochondrial, And Ataxia	Short stature, Pallor, Growth delay	OMIM:617675
Nelson Syndrome	Hypertension, Quadriceps muscle atrophy, Intracranial hemorrhage, Lower limb muscle weakness	ORPHA:199244
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Flat face, Disproportionate short-limb short stature, Short stature	ORPHA:156728
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia, Hypertension	OMIM:194080
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Microcephaly, Short stature, Growth delay, Splenomegaly, Stomatocytosis, ...	OMIM:608885
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Short stature, Thrombocytopenia, Splenomegaly,...	OMIM:263700
Yellow Fever	Hematemesis, Acute kidney injury, Jaundice, Reduced left ventricular ejection fraction, Bradycard...	ORPHA:99829
Isolated Right Ventricular Hypoplasia	Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven...	ORPHA:439
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Reduction of neutrophil motility, Rectal abscess, Leukocytosis, Neutrophilia, ...	OMIM:608203
Spondyloenchondrodysplasia	Vasculitis, Hypertension, Raynaud phenomenon	ORPHA:1855
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Enlarged kidney, Gastrointestinal hemorrhage, Anemia,...	OMIM:276700
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Arteritis, Chronic active hepatitis, Vas...	ORPHA:289390
Gaisböck Syndrome	Elevated diastolic blood pressure, Angina pectoris, Hypertension, Hypovolemia, Myocardial infarction	ORPHA:90041
Meacham Syndrome	Enlarged kidney, Death in infancy, Bicuspid aortic valve, Transposition of the great arteries, Ac...	OMIM:608978
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Hypomimic face, Jaundice, Hepatomegaly, Hypertrophic cardiomyopathy, Portal hypertension, Microce...	ORPHA:309854
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Long nose, Triangular face	ORPHA:85327
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Flat face, Low-set ears	OMIM:616994
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Dysplastic tricuspid valve, Bicuspid aortic valve, Pulmonary insufficiency, Hypospadias, Right-to...	OMIM:265380
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Sensorineural hearing impairment, Congenital thrombocytopenia, Amegakaryocytic t...	OMIM:605432
Acute Intermittent Porphyria	Tachycardia, Proximal muscle weakness in upper limbs, Hypertension, Proximal muscle weakness in l...	ORPHA:79276
Fucosidosis	Brachycephaly, Abnormality of the gallbladder, Hepatomegaly, Mucopolysacchariduria, Abnormal faci...	ORPHA:349
Lead Poisoning	Hypertension	ORPHA:330015
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Xfe Progeroid Syndrome	Hypertension	OMIM:610965
Adenohypophysitis	Pallor, Normochromic anemia	ORPHA:95512
Cockayne Syndrome Type 3	Progressive microcephaly, Cardiomyopathy, Splenomegaly, Adult onset sensorineural hearing impairm...	ORPHA:90324
Wiedemann-Steiner Syndrome	Postnatal growth retardation, Short nose, Rhizomelia, Dilatation of renal calices, Round face, Lo...	ORPHA:319182
Okamoto Syndrome	Short nose, Urinary incontinence, Abnormal left ventricle morphology, Severe postnatal growth ret...	ORPHA:2729
Pituitary Apoplexy	Hypertension, Hypotension	ORPHA:95613
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Pulmonary embolism, Hypertension	ORPHA:567546
Galloway-Mowat Syndrome 3	Hypertension, Camptodactyly	OMIM:617729
Mitochondrial Complex I Deficiency, Nuclear Type 1	Hepatomegaly, Hypospadias, Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Sens...	OMIM:252010
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Hypertension, Cerebral ischemia, Intracranial hemorrhage, Pulmonary ...	ORPHA:394
Myhre Syndrome	Skeletal muscle hypertrophy, Hypertension, Abnormal cardiac septum morphology	ORPHA:2588
Sotos Syndrome	Small cell lung carcinoma, Cryptorchidism, Neuroblastoma, Astrocytoma, Acute lymphoblastic leukem...	ORPHA:821
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Microcephaly, Short stature, Growth delay, Flat face	ORPHA:177
Lethal Congenital Contracture Syndrome 10	Torticollis, Ventricular septal defect, Hypoplasia of the thymus, Low-set ears, Increased variabi...	OMIM:617022
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Proximal amyotrophy, Hypertension	ORPHA:189427
Postinfectious Vasculitis	Ischemic stroke, Bacterial endocarditis, Hypertension, Cardiomyopathy, Vasculitis in the skin, Ra...	ORPHA:48435
Lipodystrophy, Familial Partial, Type 7	Polyuria, Short nose, Triangular face, Orthostatic hypotension, Hypertension, Low-set ears, Pulmo...	OMIM:606721
Floating-Harbor Syndrome	Mesocardia, Triangular face, Hypospadias, Recurrent otitis media, Glandular hypospadias, Low-set ...	OMIM:136140
Abetalipoproteinemia	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Distal lower limb muscle weakness, Ret...	ORPHA:14
Alexander Disease	Hypotension, Hypertension, Facial palsy, Sudden cardiac death	ORPHA:58
Neutral Lipid Storage Myopathy	Congestive heart failure, Generalized limb muscle atrophy, Rimmed vacuoles, Cardiomyopathy, Hand ...	ORPHA:98908
Emery-Nelson Syndrome	Flat face, Camptodactyly of finger, Interphalangeal thumb joint contracture	ORPHA:1927
Panhypophysitis	Pallor, Normochromic anemia	ORPHA:95513
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Flat face, Low-set ears, Microcephaly, Frontal bossing, Failure to thrive, Intrauteri...	OMIM:219200
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Hearing impairment, Oligosacchariduria, Coarse facial features	ORPHA:3137
Cantú Syndrome	Macrocephaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Patent ductus arterio...	ORPHA:1517
Scheie Syndrome	Hepatomegaly, Aortic regurgitation, Sensorineural hearing impairment, Mucopolysacchariduria, Sple...	ORPHA:93474
Lipodystrophy, Familial Partial, Type 2	Skeletal muscle hypertrophy, Hypertension, Increased intramuscular fat	OMIM:151660
Mucopolysaccharidosis Type 7	Ascites, Mucopolysacchariduria, Splenomegaly, Flat face, Coarse facial features, Hepatitis	ORPHA:584
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Pericarditis, Neutrophilia, Splenomegaly, Periton...	OMIM:249100
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypertension	OMIM:612780
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Hypertension, Thrombocytopenia, Leukopenia, Proteinuria, Rayn...	ORPHA:536
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly	OMIM:235555
Insulin-Resistance Syndrome Type B	Increased circulating IgG level, Increased circulating IgA level, Increased body weight, Abnormal...	ORPHA:2298
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Flat face, Patent ductus arteriosus, Flat occiput, Hypertelorism, Hypoplastic left heart	ORPHA:2001
Cockayne Syndrome Type 1	Hypertension, Foot joint contracture	ORPHA:90321
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypertension, Intracranial hemorrhage	ORPHA:90795
Microcornea-Glaucoma-Absent Frontal Sinuses Syndrome	Flat face, Round face	ORPHA:2536
Agammaglobulinemia, X-Linked	Recurrent otitis media, Anemia, Decreased circulating IgE, B lymphocytopenia, Hepatocellular carc...	OMIM:300755
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Angina pectoris, Vasculitis, Hypertension, Cerebral ischemia, Perica...	ORPHA:900
Herpes Simplex Virus Encephalitis	Neutrophilia, Leukocytosis	ORPHA:1930
Hyper-Igd Syndrome	Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat...	OMIM:260920
Myoectodermal Gonadal Dysgenesis Syndrome	Unilateral renal agenesis, Small for gestational age, Accessory spleen, Sensorineural hearing imp...	OMIM:618419
Non-Functioning Pituitary Adenoma	Pallor, Anemia of inadequate production	ORPHA:91349
Autosomal Recessive Stickler Syndrome	Flat face, Sensorineural hearing impairment, Short stature	ORPHA:250984
Flat Face-Microstomia-Ear Anomaly Syndrome	Long nose, Low-set, posteriorly rotated ears, Abnormal tragus morphology, Aplasia/Hypoplasia of t...	ORPHA:1968
Xq21 Microdeletion Syndrome	Hypertension, Abnormality of the Achilles tendon, Upper limb muscle weakness	ORPHA:1435
Cardiofaciocutaneous Syndrome	Short nose, Macrocephaly, Low-set, posteriorly rotated ears, Abnormal heart valve morphology, Lon...	ORPHA:1340
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Hearing impairment, Achalasia, Triangular face, Orthostatic hypotension	OMIM:615510
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Protruding ear, Triangular face, Low-set ears	OMIM:225060
Von Hippel-Lindau Syndrome	Hypertension	OMIM:193300
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Neonatal short-limb short stature, Stillbirth, Macrocephaly, Rhizomelia, Low-set ears, Flat face,...	OMIM:151210
Desbuquois Dysplasia 2	Postnatal growth retardation, Round face, Relative macrocephaly, Proptosis, Microcephaly, Severe ...	OMIM:615777
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Neutrophilia, Splenomegaly, Failure to thrive in infancy, Abscess	OMIM:612852
Oculocerebrorenal Syndrome Of Lowe	Chronic otitis media, Delayed puberty, Death in infancy, Nephrocalcinosis, Multiple renal cysts, ...	ORPHA:534
Robinow-Sorauf Syndrome	Plagiocephaly, Long nose, Shallow orbits, Pansynostosis, Flat face, Craniosynostosis, Hypertelorism	OMIM:180750
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Round face, Cholestasis, Asci...	OMIM:619534
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Achondrogenesis, Type Ib	Flat face, Stillbirth, Neonatal short-limb short stature	OMIM:600972
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Intrauterine growth ret...	OMIM:617713
Wilson Disease	Portal fibrosis, Ascites, Splenomegaly, Hepatic steatosis, Jaundice, Hepatocellular carcinoma, Ne...	OMIM:277900
Apert Syndrome	Brachycephaly, Chronic otitis media, Lambdoidal craniosynostosis, Acrobrachycephaly, Proptosis, B...	OMIM:101200
Apert Syndrome	Hypertension	ORPHA:87
Fibular Hemimelia	Craniosynostosis, Abnormal heart morphology, Thrombocytopenia	ORPHA:93323
Bardet-Biedl Syndrome 1	Hypertension, Left ventricular hypertrophy	OMIM:209900
Marshall Syndrome	Brachycephaly, Short nose, Sensorineural hearing impairment, Proptosis, Short stature, Frontal bo...	ORPHA:560
Igg4-Related Retroperitoneal Fibrosis	Renovascular hypertension, Large vessel vasculitis, Hypertension, Budd-Chiari syndrome	ORPHA:49041
Bartter Syndrome Type 4	Renal salt wasting, Acute kidney injury, Severe failure to thrive, Triangular face, Hyperprostagl...	ORPHA:89938
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole...	ORPHA:131
Developmental And Epileptic Encephalopathy 95	Long nose, Hepatomegaly, Coarse facial features, Arthrogryposis multiplex congenita, Microcephaly...	OMIM:618143
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Nephrotic syndrome, Pericarditi...	ORPHA:342
Lethal Kniest-Like Dysplasia	Macrocephaly, Mesomelic/rhizomelic limb shortening, Low-set ears, Severe short-limb dwarfism, Fla...	ORPHA:2347
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ...	OMIM:607765
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Flat face, Short stature	OMIM:620269
Robinow Syndrome, Autosomal Recessive 1	Microtia, Proptosis, Nephrocalcinosis, Abnormal heart morphology, Hypospadias, Nephrolithiasis, C...	OMIM:268310
Sheehan Syndrome	Pallor, Dry skin, Normochromic anemia	ORPHA:91355
Pneumocystosis	Increased circulating antibody level, Abnormal neutrophil count, Weight loss	ORPHA:723
Acrodysostosis	Brachycephaly, Short nose, Hearing impairment, Frontal bossing, Short stature, Flat face, Hyperte...	ORPHA:950
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive...	ORPHA:308552
Papillorenal Syndrome	Hypertension	OMIM:120330
Maxillonasal Dysplasia	Flat face, Short nose	ORPHA:1248
Simosa Craniofacial Syndrome	Long nose, Long face, Abnormal pinna morphology, Low-set ears, Posteriorly rotated ears, Flat fac...	OMIM:182150
Blepharocheilodontic Syndrome 2	Flat face, Hypertelorism, Facial asymmetry	OMIM:617681
Ayme-Gripp Syndrome	Brachycephaly, Short nose, Flat face, Sensorineural hearing impairment, Microtia, Low-set ears, C...	OMIM:601088
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Nephropathy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Thrombo...	OMIM:254900
Pfeiffer Syndrome	Turricephaly, Short stature, Flat face, Hypertelorism, Wide nasal bridge, Facial asymmetry	ORPHA:710
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Myositis, Splenomegaly, Flexion contr...	OMIM:619183
Bernard-Soulier Syndrome	Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Macr...	ORPHA:274
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat...	OMIM:613812
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Sensorineural hearing impairment, Elevated urine trihydroxycholestanoic acid level,...	OMIM:266510
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia, Epistaxis	OMIM:273900
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Ce...	ORPHA:509
Vulto-Van Silfhout-De Vries Syndrome	Brachycephaly, Frontal bossing, Flat face	OMIM:615828
Skin Creases, Congenital Symmetric Circumferential, 1	Brachycephaly, Low-set ears, Microcephaly, Posteriorly rotated ears, Flat face, Hypertelorism, Ov...	OMIM:156610
Hyperparathyroidism, Neonatal Severe	Polyuria, Calcinosis, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Failure to thrive,...	OMIM:239200
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypertension	OMIM:617913
Schwartz-Jampel Syndrome	Flexion contracture of toe, Cachexia, Wrist flexion contracture, Death in infancy, Microcephaly, ...	ORPHA:800
Dysostosis, Stanescu Type	Brachycephaly, Proptosis, Microcephaly, Short stature, Flat face, Macroglossia, Hypertelorism	ORPHA:1798
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypotension, Leukocytosis, Hypovolemia, Cardiogenic shock,...	ORPHA:31824
Otopalatodigital Syndrome, Type I	Short nose, Prominent occiput, Short stature, Frontal bossing, Conductive hearing impairment, Fla...	OMIM:311300
Holocarboxylase Synthetase Deficiency	Organic aciduria, 3-hydroxyisovaleric aciduria, Elevated urinary 3-methylcrotonylglycine level, T...	OMIM:253270
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c...	ORPHA:3093
Thrombocytopenia 10	Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:620484
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Congestive heart failure, Bicuspid aortic valve, Aortic regurgitation, Tricuspid regurgitation, P...	OMIM:620066
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension	OMIM:123790
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypertension	OMIM:202010
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Sensorineural hearing impairment, Pancre...	OMIM:610199
Immunodeficiency 31C	Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi...	OMIM:614162
Chronic Granulomatous Disease	Hepatomegaly, Mediastinal lymphadenopathy, Liver abscess, Splenomegaly, Otitis media, Abnormality...	ORPHA:379
Glycogen Storage Disease Ic	Spider hemangioma, Hypertension, Pulmonary arterial hypertension	OMIM:232240
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Increased head circumference, Atrial septal defect, Delayed puberty, Macrocephaly, Long face, Pat...	OMIM:300967
Psoriasis 14, Pustular	Cholangitis, Neutrophilia, Leukocytosis	OMIM:614204
Thoracomelic Dysplasia	Flat face, Round face, Disproportionate short-limb short stature	ORPHA:1803
Kyphomelic Dysplasia	Flat face, Disproportionate short stature	ORPHA:1801
Senior-Boichis Syndrome	Hypertension, Portal hypertension	ORPHA:84081
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Short nose, Microtia, Low-set ears, Camptodactyly, Shallow orbits, Hearing impairm...	OMIM:601353
Cardiac Diverticulum	Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve...	ORPHA:1686
Familial Aortic Dissection	Cardiomegaly, Patent ductus arteriosus	ORPHA:229
Myhre Syndrome	Skeletal muscle hypertrophy, Hypertension, Camptodactyly, Aortic valve stenosis, Generalized musc...	OMIM:139210
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Myositis, Vasculitis, Leukocytosis, Pericarditis, Splenomegaly, Peritonitis, Abn...	ORPHA:32960
Rhizomelic Dysplasia, Patterson-Lowry Type	Flat face, Short nose, Rhizomelia, Large face	ORPHA:2831
Campomelic Dysplasia	Macrocephaly, Low-set ears, Proptosis, Hearing impairment, Short stature, Hydronephrosis, Flat fa...	ORPHA:140
Tsh-Secreting Pituitary Adenoma	Congestive heart failure, Supraventricular arrhythmia, Hypertension, Hypotension, Pericardial eff...	ORPHA:91347
Alport Syndrome	Hypertension	ORPHA:63
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly, Situs inversus totalis, Short nose, Hypotelorism, Hypospadias, Smal...	ORPHA:1449
1P36 Deletion Syndrome	Abnormal cardiac septum morphology, Abnormal heart valve morphology, Camptodactyly of finger, Tet...	ORPHA:1606
Hallermann-Streiff Syndrome	Hypertension, Pulmonary arterial hypertension, Telangiectasia	OMIM:234100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, Heart block, Hepatomegaly, Myoglobinuri...	ORPHA:228308
Thrombocytopenia 1	Decreased mean platelet volume, Increased circulating IgE level, Increased circulating IgA level,...	OMIM:313900
Hutchinson-Gilford Progeria Syndrome	Left ventricular systolic dysfunction, Abnormal aortic valve morphology, Aortic regurgitation, An...	ORPHA:740
Chronic Visceral Acid Sphingomyelinase Deficiency	Delayed puberty, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, Abnormal ...	ORPHA:77293
Truncus Arteriosus	Transposition of the great arteries, Aortic regurgitation, Cardiomegaly, Abnormal heart valve mor...	ORPHA:3384
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypospadias, Abnormal pinna morphology, Trigonocephaly, Frontal bossing, Short stature, Flat face	OMIM:177980
Congenital Total Pulmonary Venous Return Anomaly	Atrial septal defect, Atrial situs ambiguous, Transposition of the great arteries, Infracardiac t...	ORPHA:99125
Cogan Syndrome	Large vessel vasculitis, Anemia, Aortic regurgitation, Vasculitis, Sensorineural hearing impairme...	ORPHA:1467
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Flat face, Hearing impairment, Coarse facial features, Hypertelorism	ORPHA:93346
Acute Transverse Myelitis	Distal lower limb muscle weakness, Orthostatic hypotension, Hypertension, Upper limb muscle weakn...	ORPHA:139417
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Macrocephaly, Absent earlobe, Low-set ears, Proptosis, Short stature, Failure to thrive, Flexion ...	OMIM:130070
Saethre-Chotzen Syndrome	Brachycephaly, Plagiocephaly, Long nose, Lambdoidal craniosynostosis, Facial asymmetry, Parietal ...	OMIM:101400
Multicystic Dysplastic Kidney	Hypertension	ORPHA:1851
Generalized Glucocorticoid Resistance Syndrome	Hypertension	ORPHA:786
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Hypertension, Cardiac myxoma, Supraventricular tachycardia	OMIM:181270
Pyomyositis	Myositis, Leukocytosis, Weight loss, Recurrent cutaneous abscess formation, Renal insufficiency, ...	ORPHA:764
Kawasaki Disease	Myocarditis, Congestive heart failure, Cervical lymphadenopathy, Jaundice, Vasculitis, Abnormal h...	ORPHA:2331
Orofaciodigital Syndrome I	Hypertension, Abnormal heart morphology	OMIM:311200
Otospondylomegaepiphyseal Dysplasia	Disproportionate short stature, Sensorineural hearing impairment, Proptosis, Posteriorly rotated ...	ORPHA:1427
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypertension	ORPHA:90793
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Cardiomyopathy, Pulmonic stenosis, Trigonocepha...	OMIM:312870
Scalp-Ear-Nipple Syndrome	Hypertension	ORPHA:2036
Spondyloepiphyseal Dysplasia Congenita	Increased head circumference, Flat face, Hearing impairment, Growth delay, Disproportionate short...	ORPHA:94068
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Leukocytosis, Microcephaly, Renal hypoplasia, Short stature, Flexion contracture, Mic...	OMIM:619321
Lethal Acantholytic Erosive Disorder	Abnormal pinna morphology, Abnormal helix morphology, Cardiomyopathy, Hypovolemic shock, Camptoda...	ORPHA:158687
Alternating Hemiplegia Of Childhood	Pallor, Cardiomyopathy, Dehydration	ORPHA:2131
Chromosome 1P36 Deletion Syndrome, Distal	Atrial septal defect, Noncompaction cardiomyopathy, Patent foramen ovale, Ebstein anomaly of the ...	OMIM:607872
Stickler Syndrome, Type Iv	Flat face, Sensorineural hearing impairment, Short stature	OMIM:614134
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary insufficiency, Death in childhood, Bradycardia, Abnorm...	OMIM:614437
Blepharocheilodontic Syndrome 1	Flat face, Hypertelorism	OMIM:119580
Prader-Willi Syndrome	Hypertension	ORPHA:739
Acute Liver Failure	Acute kidney injury, Gastrointestinal hemorrhage, Jaundice, Hepatic periportal necrosis, Hypotens...	ORPHA:90062
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Long face, Microtia, Low-set ears, Ureterocele, Microcephaly, Uplifted earlobe, Shor...	OMIM:616734
Keutel Syndrome	Pulmonic stenosis, Hypertension, Ventricular septal defect	OMIM:245150
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Isolated Biliary Atresia	Cirrhosis, Jaundice, Hepatomegaly, Severe failure to thrive, Periportal fibrosis, Cholestasis, Bi...	ORPHA:30391
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Williams Syndrome	Chronic otitis media, Hypoplasia of penis, Sensorineural hearing impairment, Hypertension, Cerebr...	ORPHA:904
Esophageal Atresia	Polyhydramnios, Growth delay, Tetralogy of Fallot, Pallor, Ventricular septal defect	ORPHA:1199
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Coarse facial features, Prominent occiput, Renal cortical cysts, V...	OMIM:130650
Prolactinoma	Delayed puberty, Pallor	ORPHA:2965
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulat...	ORPHA:29073
Pierson Syndrome	Hypertension, Skeletal muscle atrophy, Retinal hemorrhage	OMIM:609049
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Pollakisuria...	ORPHA:268
Acromegaly	Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Macroglossia	ORPHA:963
Somatomammotropinoma	Hypertension, Mitral regurgitation, Hypertrophic cardiomyopathy, Macroglossia	ORPHA:314769
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Aortic valve atresia, Hypertension, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Bi...	OMIM:220111
Familial Idiopathic Dilatation Of The Right Atrium	Paroxysmal atrial fibrillation, Hepatomegaly, Cardiomegaly, Reduced left ventricular ejection fra...	ORPHA:1677
Carnitine Palmitoyltransferase I Deficiency	Dicarboxylic aciduria, Hepatomegaly, Renal tubular acidosis, Arrhythmia, Cardiomegaly, Hepatic st...	OMIM:255120
Amyloidosis, Hereditary, Transthyretin-Related	Urinary incontinence, Sensorineural hearing impairment, Cardiomyopathy, Hearing impairment, Ortho...	OMIM:105210
Immunodeficiency 82 With Systemic Inflammation	Decreased circulating total IgG, Recurrent otitis media, Anemia, Lymphadenopathy, B lymphocytopen...	OMIM:619381
Chondrodysplasia Punctata 2, X-Linked Dominant	Postnatal growth retardation, Rhizomelia, Abnormal pinna morphology, Hearing impairment, Frontal ...	OMIM:302960
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Myositis, Increased circulating IgA level, Proptosis, Increased circulating IgM ...	ORPHA:79078
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Round face, Abnormal facial shape, Flat face, Hypertelorism, Wide nasal bridge, Ab...	ORPHA:2062
Holoprosencephaly 7	Short nose, Macrocephaly, Hypotelorism, Flat face, Broad face, Cranial asymmetry, Shallow orbits,...	OMIM:610828
Woodhouse-Sakati Syndrome	Delayed puberty, Triangular face, Bilateral sensorineural hearing impairment, Growth delay, Protr...	ORPHA:3464
Yunis-Varon Syndrome	Abnormal pinna morphology, Hypertension, Cardiomyopathy, Proptosis, Cardiomegaly, Primary microce...	ORPHA:3472
Choreoacanthocytosis	Distal amyotrophy, Muscle fiber atrophy, Peroneal muscle atrophy, Dilated cardiomyopathy, Myopathy	ORPHA:2388
Juvenile Polyposis Syndrome	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Anemia, Hepatic arteriovenous malformation...	ORPHA:2929
Woodhouse-Sakati Syndrome	Triangular face, Sensorineural hearing impairment, Hearing impairment, Protruding ear, Micropenis...	OMIM:241080
Primary Sclerosing Cholangitis	Spider hemangioma, Cholestasis, Ascites, Splenomegaly, Polyclonal elevation of IgM, Jaundice, Hep...	ORPHA:171
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Calcinosis, Lip telangiectasia, Cholestasis,...	OMIM:613471
Absence Of The Pulmonary Artery	Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Cardiomegaly, Reduce...	ORPHA:980
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypertension, Prolonged QT interval	ORPHA:79443
Campomelic Dysplasia	Neonatal short-limb short stature, Macrocephaly, Hypospadias, Disproportionate short-limb short s...	OMIM:114290
Au-Kline Syndrome	Hypertension	OMIM:616580
Robinow Syndrome, Autosomal Dominant 1	Short nose, Macrocephaly, Rhizomelia, Flat face, Low-set ears, Proptosis, Short stature, Frontal ...	OMIM:180700
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Short nose, Protruding ear, Macrocephaly, Hypospadias, Long face, Urogeni...	OMIM:618820
Blau Syndrome	Large vessel vasculitis, Hypertension, Facial palsy, Pulmonary arterial hypertension, Camptodacty...	ORPHA:90340
Congenital Disorder Of Glycosylation, Type Iim	Atrial septal defect, Hypertension	OMIM:300896
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	3-Methylglutaconic aciduria, Congestive heart failure, Increased hepatic glycogen content, Cardio...	OMIM:619259
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Facial hypotonia, Left ventricular...	ORPHA:365
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotensi...	ORPHA:466650
Congenital Tracheomalacia	Patent ductus arteriosus, Cutis laxa, Abnormal heart morphology, Tetralogy of Fallot, Partial ano...	ORPHA:95430
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Decreased body weight, Proptosis, Short stature, Frontal bossing, Joint contracture, Flat face	OMIM:615349
Leukocyte Adhesion Deficiency	Perianal abscess, Hemolytic-uremic syndrome, Acute myeloid leukemia, Recurrent tonsillitis, Coars...	ORPHA:2968
Cockayne Syndrome A	Hip contracture, Hypertension, Arrhythmia	OMIM:216400
Arima Syndrome	Hypertension	OMIM:243910
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233710
Generalized Arterial Calcification Of Infancy	Left ventricular systolic dysfunction, Hypertension, Weak pulse, Transient ischemic attack, Pulmo...	ORPHA:51608
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Increased circulating antibody level, Pancytopenia, Hy...	OMIM:181000
Achondrogenesis, Type Ia	Stillbirth, Short nose, Turricephaly, Low-set ears, Disproportionate short-trunk short stature, F...	OMIM:200600
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Hypertension, Elbow flexion contracture, Camptodactyly	ORPHA:95699
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair...	OMIM:233690
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Pulmonary venous hypertension, Hypertension, Epistaxis	ORPHA:79259
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Neonatal short-limb short stature, Round face, Camptodactyly, Shallow orbits, Severe short statur...	OMIM:224400
Branchioskeletogenital Syndrome	Brachycephaly, Mixed hearing impairment, Penoscrotal hypospadias, Attached earlobe, Proptosis, Ur...	ORPHA:1299
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Muscular ventricular septal defect, Shoulder flexion contracture, Patent foramen ovale, Hypertens...	OMIM:210710
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Hypertension, Macroglossia	OMIM:266920
Slc39A8-Cdg	Flat face, Disproportionate short-limb short stature, Elbow flexion contracture, Low-set ears, He...	ORPHA:468699
Atypical Werner Syndrome	Congestive heart failure, Calf muscle hypertrophy, Hypertension, Aortic valve stenosis, Telangiec...	ORPHA:79474
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Melanoma, Colon cancer, Breast carcinoma, Ovarian carcinoma, Neoplasm ...	ORPHA:1333
Smith-Lemli-Opitz Syndrome	Hypertension, Hypertrophic cardiomyopathy, Ventricular fibrillation, Atrial septal defect, Ventri...	OMIM:270400
Multiple Endocrine Neoplasia Type 2	Pallor, Neoplasm of the liver	ORPHA:653
Renal Dysplasia	Hypertension	ORPHA:93108
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Gastrointestinal hemorrhage, Spontan...	OMIM:187300
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ...	OMIM:306400
Lymphangiectasia, Pulmonary, Congenital	Ascites, Chylous ascites, Pulmonary lymphangiectasia, Flat face, Mild postnatal growth retardatio...	OMIM:265300
Larsen Syndrome	Shallow orbits, Hearing impairment, Frontal bossing, Conductive hearing impairment, Short stature...	OMIM:150250
Aspartylglucosaminuria	Chronic otitis media, Short nose, Hepatomegaly, Coarse facial features, Microtia, Abnormal facial...	ORPHA:93
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Flat face, Hypertelorism	OMIM:618154
Holoprosencephaly 14	Cyclopia, Macrocephaly, Proboscis, Aortic valve atresia, Low-set ears, Microcephaly, Frontal boss...	OMIM:619895
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Patent ductus arteriosus, Umbilical hernia, Cardiomegaly, Ventricular septal defect...	ORPHA:96191
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Oval face, Flat face, Decreased body weight, Proptosis, Severe short stature, Flexion contracture...	OMIM:271640
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypospadias, Disproportionate short-limb short stature, Low-set ears, Frontal bossing, Posteriorl...	OMIM:619479
Orofaciodigital Syndrome Type 1	Hypertension	ORPHA:2750
Cockayne Syndrome	Limb hypertonia, Hypertension, Retinal hemorrhage, Congenital contracture, Skeletal muscle atroph...	ORPHA:191
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Spinal cord tumor, Pilomatrixoma, Meningioma, Neoplasm, Pneumonia, Recurrent respiratory infectio...	ORPHA:353281
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Flat face, Disproportionate short-limb short stature	OMIM:608728
Bardet-Biedl Syndrome	Abnormal heart morphology, Hypertension, Cardiomyopathy, Skeletal muscle atrophy	ORPHA:110
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hepatic arteriovenous malformation, Anemia, Hematochezia, Epistaxis, Mitral valve prolapse, Mitra...	OMIM:175050
Turner Syndrome Due To Structural X Chromosome Anomalies	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:99413
Mosaic Monosomy X	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:99228
Monosomy X	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:99226
Turner Syndrome	Prolonged QT interval, Hypertension, Bicuspid aortic valve, Atrial septal defect, Myocardial infa...	ORPHA:881
Hereditary Hemorrhagic Telangiectasia	Tongue telangiectasia, Gastrointestinal hemorrhage, Nasal mucosa telangiectasia, Epistaxis, Chole...	ORPHA:774
Larsen Syndrome	Short stature, Conductive hearing impairment, Flat face, Craniosynostosis, Hypertelorism	ORPHA:503
Johanson-Blizzard Syndrome	Sensorineural hearing impairment, Severe intrauterine growth retardation, Ascites, Microcephaly, ...	OMIM:243800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Hydrocephalus, Pallor	OMIM:253280
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Neonatal short-trunk short stature, Elbow flexion contracture, Short stature, Flat face, Small fo...	ORPHA:93360
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Limb hypertonia, Cardiomegaly, Tricuspid regurgitation	OMIM:620306
Williams-Beuren Syndrome	Myxomatous mitral valve degeneration, Hypertension, Portal hypertension, Coronary artery stenosis...	OMIM:194050
Interatrial Communication	Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec...	ORPHA:1478
Tetrasomy 9P	Absent gallbladder, Pilomatrixoma, Cryptorchidism, Pulmonary hypoplasia	ORPHA:3310
Camptodactyly Syndrome, Guadalajara, Type Iii	Torticollis, Abnormal pinna morphology, Camptodactyly, Flat face, Small hypothenar eminence, Hype...	OMIM:611929
Hypomagnesemia 3, Renal	Hypertension	OMIM:248250
Craniofacial-Deafness-Hand Syndrome	Flat face, Sensorineural hearing impairment, Short nose, Hypertelorism	OMIM:122880
Omodysplasia 1	Short nose, Rhizomelia, Disproportionate short-limb short stature, Frontal bossing, Flat face, At...	OMIM:258315
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Lip telangiectasia, Hearing impairment, Tinnitus, Telangiectas...	ORPHA:79280
Spondyloepiphyseal Dysplasia Congenita	Flat face, Neonatal short-trunk short stature, Hearing impairment	OMIM:183900
Goodpasture Syndrome	Pallor, Anemia	OMIM:233450
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pilomatrixoma, Meningioma, Pneumonia, Recurrent respiratory infections, Cryptorchidism, Hydrocele...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pilomatrixoma, Meningioma, Pneumonia, Recurrent respiratory infections, Cryptorchidism, Hydrocele...	ORPHA:353277
Menke-Hennekam Syndrome 1	Short nose, Protruding ear, Absent earlobe, Overfolded helix, Low-set ears, Hearing impairment, S...	OMIM:618332
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Atrial septal defect, Corneal neovascularization, Hypertension	OMIM:308205
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Hypertension, Transient ischemic attack, Internal hemorrhage, Re...	ORPHA:286
Alström Syndrome	Congestive heart failure, Hypertension, Pulmonary arterial hypertension, Portal hypertension, Myo...	ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension, Camptodactyly, Joint contracture of the hand	OMIM:201750
Menke-Hennekam Syndrome 2	Flat face, Absent earlobe, Hearing impairment, Square face	OMIM:618333
Oculoectodermal Syndrome	Atrial septal defect, Transient ischemic attack, Hypertrophic cardiomyopathy	OMIM:600268
Singleton-Merten Syndrome 1	Congestive heart failure, Decreased body weight, Mitral valve calcification, Aortic valve stenosi...	OMIM:182250
Orofaciodigital Syndrome Type 10	Flat face	ORPHA:2756
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Kyphomelic Dysplasia	Flat face, Disproportionate short stature, Low-set ears	OMIM:211350
Cardiofaciocutaneous Syndrome 2	Posteriorly rotated ears, Coarse facial features, Low-set ears, Mitral valve prolapse	OMIM:615278
Linear Nevus Sebaceus Syndrome	Cavernous hemangioma, Adenoma sebaceum	ORPHA:2612
Camptodactyly Syndrome, Guadalajara Type 3	Abnormal pinna morphology, Sternocleidomastoid amyotrophy, Flat face, Micropenis, Facial asymmetry	ORPHA:488434
Schimmelpenning-Feuerstein-Mims Syndrome	Hemangioma, Basal cell carcinoma	OMIM:163200
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Macrocephaly, Hypospadias, Proptosis, Abnormality of the ureter, Abnormal...	ORPHA:3339
Encephalocraniocutaneous Lipomatosis	Tricuspid valve prolapse, Macrocephaly, Craniofacial hyperostosis, Pulmonary arterial hypertensio...	ORPHA:2396
Arteriovenous Malformations Of The Brain		OMIM:108010

Histopathology

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

There is no histopathology data for Kras

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 Kras.

No publications found that use IMPC mice or data for Kras.

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
Kras^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Kras^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us