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Gene: Abca5 MGI:2386607

Gene Summary

Name:

ATP-binding cassette, sub-family A member 5

Synonyms:

B930033A02Rik, ABC13

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal spleen morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal thymus morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal kidney morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged spleen	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged heart	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal skin morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged lymph nodes	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged kidney	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal heart morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal lymph node morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged thymus	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult

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Human diseases caused by Abca5 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 Abca5 (2 diseases)
Human diseases predicted to be associated with Abca5 (1620 diseases)

The table below shows human diseases associated to Abca5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Gingival Fibromatosis-Hypertrichosis Syndrome		Ataxia	ORPHA:2026
Hypertrichosis, Congenital Generalized, 3, With Or Without Gingival Hyperplasia			OMIM:135400

The table below shows human diseases predicted to be associated to Abca5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy, Myoclonus, Tremor, Hypothyroidism, Dystonia, Frequent falls	OMIM:619647
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Gne Myopathy	Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ...	ORPHA:602
Thyroid Hormone Metabolism, Abnormal, 1	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating free T3, Hy...	OMIM:609698
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegal...	OMIM:619902
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Thyroid Hormone Metabolism, Abnormal, 3	Abnormal circulating free T3 concentration, Increased circulating free T3, Euthyroid hyperthyroxi...	OMIM:620198
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hyperthyroxinemia, Familial Dysalbuminemic	Abnormal thyroid-stimulating hormone level, Increased circulating free T4 concentration, Euthyroi...	OMIM:615999
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen...	OMIM:615285
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Thyroid Dyshormonogenesis 2A	Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,...	OMIM:274500
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I...	OMIM:611880
Thyroid Dyshormonogenesis 6	Congenital hypothyroidism, Hypothyroidism	OMIM:607200
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613122
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
Pituitary Dwarfism With Large Sella Turcica	Decreased response to growth hormone stimulation test, Hypothyroidism	OMIM:262710
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c...	OMIM:188570
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ...	OMIM:612158
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con...	OMIM:608099
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Cardiomyopathy, Dilated, 2I	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac...	OMIM:620462
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism	OMIM:300123
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ...	OMIM:612937
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Nephronophthisis 16	Aortic valve stenosis, Periportal fibrosis, Nephronophthisis, Hypertrophic cardiomyopathy, Choles...	OMIM:615382
Thyroid Cancer, Nonmedullary, 1	Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma	OMIM:188550
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri...	OMIM:181350
Pituitary Hormone Deficiency, Combined, 4	Impaired growth-hormone response to insulin stimulation test, Adrenal insufficiency, Hypothyroidism	OMIM:262700
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis, Elevated circulating thyroid-stimulating hormone concentration, Goiter, Type II diabet...	OMIM:274300
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ...	OMIM:611615
Dpm3-Cdg	Rimmed vacuoles, Muscular dystrophy, Elevated circulating hepatic transaminase concentration, Dil...	ORPHA:263494
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Graves Disease	Graves disease, Proptosis, Goiter, Congestive heart failure, Increased circulating free T3, Incre...	OMIM:275000
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Hypothyroidism	ORPHA:2430
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ...	OMIM:604286
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor...	OMIM:613496
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Sensorineural Deafness With Dilated Cardiomyopathy	Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure	ORPHA:217622
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Hypothyroidism, Congenital, Nongoitrous, 5	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral...	OMIM:225250
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Involuntary movements, Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, ...	OMIM:606703
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Fetal Iodine Syndrome	Hypothyroidism, Hemiplegia/hemiparesis, Spastic diplegia	ORPHA:1910
Ethanolaminosis	Cardiomegaly	OMIM:227150
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Resting tremor, Congestive heart failure, Chorea, Myoclonus, Facial myoky...	ORPHA:324588
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa...	ORPHA:168796
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Dilated cardiomyopathy, Interosseus muscle atrophy, Dysmetria, Distal lower limb muscle weakness,...	OMIM:619903
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis	OMIM:187500
Myopathy, Distal, 1	Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph...	OMIM:160500
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva...	OMIM:615395
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:275200
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypogonadism, Co...	ORPHA:79230
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff...	ORPHA:3282
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic...	OMIM:611705
Congenital Atransferrinemia	Hypothyroidism	ORPHA:1195
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Malformation of the hepatic ductal plate, Hepatic fibrosis, Hypertrophic c...	OMIM:615415
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe...	OMIM:619897
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,...	OMIM:619424
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber...	ORPHA:34515
His Bundle Tachycardia	Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy	ORPHA:3283
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Glutaric Aciduria Iii	Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activity, Hyperthyroidism, Goiter	OMIM:231690
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Goiter, Tremor, Increased circulating T4 concentration, Increased circulating free T4 concentrati...	OMIM:613239
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Leg muscle stiffness, Progressive spastic paraplegia, Cardiomyopathy, Distal lower limb muscle we...	ORPHA:320360
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly, Eosinophilia, Hepatomegaly, Myelo...	OMIM:607685
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Spasticity, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, ...	OMIM:252011
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr...	ORPHA:206546
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f...	OMIM:300718
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro...	OMIM:601419
Kerion Celsi	Lymphadenopathy	ORPHA:499
Familial Thyroid Dyshormonogenesis	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:95716
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis, Cryptorchidism	ORPHA:3303
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy...	ORPHA:154
Hyperthyroidism, Nonautoimmune	Proptosis, Thyroid hyperplasia, Goiter, Increased circulating free T3, Increased circulating T4 c...	OMIM:609152
Barth Syndrome	Endocardial fibroelastosis, Dilated cardiomyopathy	ORPHA:111
Testicular Anomalies With Or Without Congenital Heart Disease	Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysgenesis	OMIM:615542
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Polyhydram...	OMIM:300580
Wolfram-Like Syndrome	Male hypogonadism, Central diabetes insipidus, Hypothyroidism, Delayed puberty, Primary gonadal i...	ORPHA:411590
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Cholestasis, Cirrhosis, Atrial septal defect, Hepatomegaly, Polycystic kid...	OMIM:208540
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Elevated circulating aspartate aminotransferase...	OMIM:610198
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:100024
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive...	OMIM:255160
Thyrotropin-Releasing Hormone Deficiency	Hypothyroidism, Hypothalamic hypothyroidism	OMIM:275120
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Adult-Onset Nemaline Myopathy	Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li...	ORPHA:171442
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ...	ORPHA:206559
Congenital Myopathy 2A, Typical, Autosomal Dominant	Nemaline bodies, Dilated cardiomyopathy, Frequent falls, Type 1 muscle fiber predominance, Limb m...	OMIM:161800
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hypogonadotropic ...	OMIM:602390
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Abnormal heart morph...	ORPHA:85445
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
Hypothyroidism, Central, With Testicular Enlargement	Reduced circulating prolactin concentration, Hypothyroidism, Inappropriately normal thyroid-stimu...	OMIM:300888
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Hyperechogenic kidne...	OMIM:263200
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Proptosis, Thyroid hyperplasia, Goiter, H...	ORPHA:99819
Sandhoff Disease, Adult Form	Proximal muscle weakness in lower limbs, Spasticity, Upper limb muscle weakness, Fasciculations, ...	ORPHA:309169
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus	OMIM:615981
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Ascher Syndrome	Hypothyroidism, Hypertelorism, Goiter	ORPHA:1253
Joubert Syndrome 26	Decreased response to growth hormone stimulation test, Panhypopituitarism, Central hypothyroidism...	OMIM:616784
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Papillary renal cell carcinoma, Chronic noninfectious lym...	ORPHA:97290
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Goiter, Palpitations, Rhabdomyolysis, Hyperthyroidism, Tachycardia	OMIM:188580
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Rhabdomyosarcoma, Embryonal, 2	Goiter, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid nodule	OMIM:180295
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Hypothyroidism, Congenital, Nongoitrous, 9	Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le...	OMIM:301035
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Transient Neonatal Diabetes Mellitus	Macroglossia, Maturity-onset diabetes of the young, Abnormal heart morphology, Transient neonatal...	ORPHA:99886
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Macroglossia, Myopathy, Hypothyroidism, Jaundice, Skeletal muscle hypertrophy	ORPHA:2349
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc...	OMIM:616827
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Proptosis, Thyroid hyperplasia, Goiter, H...	ORPHA:424
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Skeletal muscle atrophy, Tremor, Babinski sign, Ataxia, Flexion contracture	OMIM:611105
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy	OMIM:619688
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Situs inversus totalis, Dextrocardia, Goiter	OMIM:617577
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Heart-Hand Syndrome, Slovenian Type	Dilated cardiomyopathy, Myopathy	OMIM:610140
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Decreased testicul...	ORPHA:280679
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation...	OMIM:604772
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Elevated circulating hepatic tr...	ORPHA:367
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Graves disease, Sinus tachycardia, Propt...	ORPHA:525731
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Bradycardia, Flexion contrac...	OMIM:618815
Spinocerebellar Ataxia 43	Distal amyotrophy, Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia	OMIM:617018
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Goiter, Myoclonus, Ataxia, Slurred speech	OMIM:274240
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Allan-Herndon-Dudley Syndrome	Spastic paraplegia, Elevated circulating thyroid-stimulating hormone concentration, Babinski sign...	OMIM:300523
Hypothyroidism, Congenital, Nongoitrous, 8	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301033
Dystonia 28	Precocious puberty, Arm dystonia, Generalized dystonia, Leg dystonia, Hypothyroidism, Abnormal py...	ORPHA:589618
Thyrocerebrorenal Syndrome	Euthyroid goiter, Myoclonus, Abnormality of the musculature of the limbs, Nonprogressive cerebell...	ORPHA:3327
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Hepatocellular carcinoma	ORPHA:882
Nephronophthisis 19	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Hyperechogenic kidn...	OMIM:616217
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Macroglossia, Hypopituitarism, Decreased thyroid-stimulating hormone level, Decreased circulating...	OMIM:613038
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100025
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit...	OMIM:619371
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hypertelorism	ORPHA:35099
Cardiomyopathy, Dilated, 1E	Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri...	OMIM:601154
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autosomal Dominant Progressive External Ophthalmoplegia	Resting tremor, Limb muscle weakness, Myopathy, Arrhythmia, Ataxia, Hypomimic face, Bradykinesia,...	ORPHA:254892
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Hypopituitarism, ...	OMIM:619013
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Follicular thyroid carcinoma, Papillary thyroid carcinoma, Goiter	ORPHA:319487
Li-Campeau Syndrome	Cryptorchidism, Patent foramen ovale, Ventricular septal defect, Hypothyroidism, Atrial septal de...	OMIM:619189
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen...	OMIM:133180
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic...	OMIM:613255
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular...	OMIM:615184
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ...	OMIM:614561
Triokinase And Fmn Cyclase Deficiency Syndrome	Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf...	OMIM:618805
Isolated Atp Synthase Deficiency	Spastic paraplegia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, Arrhythmia...	ORPHA:254913
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy, Dehydration	ORPHA:79159
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Laing Early-Onset Distal Myopathy	Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card...	ORPHA:59135
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocytopenia, Ane...	OMIM:603552
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Amyloidosis, Hereditary Systemic 2	Nephropathy, Renal amyloidosis, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, ...	OMIM:105200
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega...	OMIM:237800
Spastic Paraparesis And Deafness	Hypogonadism, Spastic paraparesis, Tremor	OMIM:312910
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly, Congenital hypothyroidism	ORPHA:88643
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Situs inversus totalis,...	OMIM:602088
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Nephronophthisis 3	Hepatic fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:604387
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Proptosis, Abnormality of extrapyramidal motor function, Clumsiness, Abn...	ORPHA:98757
Thyroid Lymphoma	Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Goiter	ORPHA:97285
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Ascites, Decreased circulating T4 concentration, Cholestasis, Oligohydr...	OMIM:608104
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Aborted sudden cardiac death, Elevated circulating hepatic transaminase...	OMIM:614921
Galactose Epimerase Deficiency	Aminoaciduria, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:79238
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Bamforth-Lazarus Syndrome	Polyhydramnios, Congenital hypothyroidism, Thyroid agenesis	OMIM:241850
Congenital Toxoplasmosis	Ascites, Cardiomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia, Jaundice	ORPHA:858
Hypothyroidism, Congenital, Nongoitrous, 6	Congenital hypothyroidism, Increased T3/T4 ratio, Hypertelorism, Macroglossia, Impaired sensitivi...	OMIM:614450
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Distal amyotrophy, Lower limb muscle weakness, Fasciculations, Myoclonus, Gait ataxia...	OMIM:607317
Developmental And Epileptic Encephalopathy 90	Ankle clonus, Babinski sign, Hypothyroidism, Limb hypertonia, Atrial septal defect	OMIM:301058
Brain-Lung-Thyroid Syndrome	Incoordination, Ventricular septal defect, Atrial septal defect, Ataxia, Hypoparathyroidism, Chor...	ORPHA:209905
Precocious Puberty, Central, 1	Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele...	OMIM:176400
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Decreased response to growth hormone stimulation test, Hypogonadism, Cryptorchidism, Hypothyroidi...	ORPHA:3363
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Distal amyotrophy, Fasciculations, Tremor, Spinal muscular atrophy, Proximal amyotrophy	OMIM:182980
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula...	OMIM:620609
Myopathy, Distal, 7, Adult-Onset, X-Linked	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:301075
Genetic Transient Congenital Hypothyroidism	Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin...	ORPHA:226316
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Bone marrow hypocellularity, Hypertrophic cardiomy...	OMIM:617303
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy	OMIM:609016
Danon Disease	Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali...	OMIM:300257
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr...	ORPHA:90673
Autism Spectrum Disorder Due To Auts2 Deficiency	Joint contracture of the hand, Spasticity, Congenital contracture, Proptosis, Cerebral palsy, Abn...	ORPHA:352490
Meckel Syndrome, Type 8	Pericardial effusion, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys	OMIM:613885
Myopathy, Distal, 4	Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di...	OMIM:614065
Igg4-Related Thyroid Disease	Graves disease, Retroperitoneal fibrosis, Euthyroid goiter, Goiter, Sialadenitis, Sclerosing chol...	ORPHA:64744
Dk1-Cdg	Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Cardiomyocyte hy...	ORPHA:91131
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Mpi-Cdg	Hepatic fibrosis, Gastrointestinal hemorrhage, Decreased liver function, Abnormal circulating enz...	ORPHA:79319
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Athyreosis	Macroglossia, Thyroid agenesis, Hypothyroidism	ORPHA:95713
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Dilated Cardiomyopathy With Ataxia	Diaphragmatic eventration, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conc...	ORPHA:66634
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	ORPHA:99901
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Intermittent jaundice	OMIM:179700
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical...	ORPHA:98769
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Hypophosphatasia, Childhood	Low alkaline phosphatase, Proptosis, Myopathy	OMIM:241510
Mitochondrial Dna Depletion Syndrome 11	Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ...	OMIM:615084
Hyperinsulinemic Hypoglycemia, Familial, 8	Hyperinsulinemia, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,...	OMIM:620211
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Dystonia, Myoclonus, Cardiomyopathy	OMIM:619651
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased proportio...	OMIM:300853
Lower Motor Neuron Syndrome With Late-Adult Onset	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs...	ORPHA:276435
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased circulating T4 concentration, Macroglossia, Hypothyroidism, Decreased thyroid-stimulati...	OMIM:275100
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Proptosis, Hepatic st...	OMIM:615381
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy...	OMIM:306955
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Abnormal heart morphology, Myoclonus, Tremor, Abnormality of extrapyramidal motor fun...	ORPHA:79262
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	ORPHA:226313
Mcleod Syndrome	Elevated gamma-glutamyltransferase level, Dilated cardiomyopathy, Increased circulating lactate d...	OMIM:300842
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Spasticity, Chorea, Cryptorchidism, Hypothyroidism, Dystonia	OMIM:613970
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro...	OMIM:300845
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Congenital Disorder Of Glycosylation, Type Ik	Cardiomyopathy, Hypogonadism, Splenomegaly, Nonimmune hydrops fetalis, Joint contracture, Hyperte...	OMIM:608540
Bangstad Syndrome	Type I diabetes mellitus, Increased circulating cortisol level, Abnormality of the parathyroid gl...	ORPHA:1227
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the ovary, Abnormality of the spleen, Abnormality ...	ORPHA:543
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly	OMIM:614480
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ...	ORPHA:1349
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Bamforth-Lazarus Syndrome	Polyhydramnios, Congenital hypothyroidism, Thyroid agenesis	ORPHA:1226
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Splenomegaly, Proteinuria, Hepatomegaly, Jaundice	OMIM:620010
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Glycosylphosphatidylinositol Biosynthesis Defect 1	Hepatomegaly, Portal hypertension, Splenomegaly, Portal vein thrombosis	OMIM:610293
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome	OMIM:269920
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Fulminant hepatic failure,...	OMIM:231530
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Autosomal Dominant Dopa-Responsive Dystonia	Generalized dystonia, Postural tremor, Limb dystonia, Gait ataxia, Rigidity, Abnormality of extra...	ORPHA:98808
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	OMIM:620135
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Pendred Syndrome	Hyperparathyroidism, Hypothyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Thyroid Hypoplasia	Jaundice, Macroglossia, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy...	ORPHA:352447
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block...	ORPHA:300751
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole...	ORPHA:98853
Meacham Syndrome	Accessory spleen, Hypoplastic left heart, Horseshoe kidney, Tetralogy of Fallot, Scimitar anomaly...	OMIM:608978
Wolman Disease	Hepatomegaly, Splenomegaly	OMIM:620151
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Enlarged kidney, Elevated circulating growth hormone concentration, ...	ORPHA:90301
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Intention tremor, Parkins...	OMIM:300623
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Recurrent urinary tract infections, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic a...	OMIM:618495
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Proptosis, Abnormal cardiac septum morphology	ORPHA:2370
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Type I diabetes mellitus, Distal amyotrophy, Hand tremor, Hypogonadism, Delayed menarche, Speech ...	ORPHA:412057
Hepatitis, Fulminant Viral, Susceptibility To	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatic failur...	OMIM:618549
Developmental And Epileptic Encephalopathy 75	Proptosis, Cardiomyopathy, Decreased liver function, Hypertelorism, Prolonged neonatal jaundice	OMIM:618437
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima...	ORPHA:98855
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular...	OMIM:619167
Tibial Muscular Dystrophy, Tardive	Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m...	OMIM:600334
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Chorea, Hemiparesis, Deeply set eye, Hypothyroidism, Hypertelorism, Polyh...	OMIM:618829
Pontocerebellar Hypoplasia Type 10	Spasticity, Proptosis, Hypertonia	ORPHA:411493
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:617068
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myoclonus, Abnormality of extrap...	OMIM:614299
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Cherubism	Proptosis	ORPHA:184
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Combined Oxidative Phosphorylation Deficiency 33	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Oligohydramnios, Myopath...	OMIM:617713
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Allan-Herndon-Dudley Syndrome	Spasticity, Spastic tetraplegia, Skeletal muscle atrophy, Abnormality of thyroid physiology, Cryp...	ORPHA:59
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dextr...	OMIM:618280
Vascular Malformation, Primary Intraosseous	Proptosis, Diastasis recti, Elevated circulating alkaline phosphatase concentration	OMIM:606893
Pituitary Hormone Deficiency, Combined, 2	Abnormal circulating adrenocorticotropin concentration, Hypogonadism, Panhypopituitarism, Adrenal...	OMIM:262600
Myopathy, Centronuclear, 5	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con...	OMIM:615959
Bdv Syndrome	Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia...	OMIM:619326
Hurler-Scheie Syndrome	Cardiomyopathy, Abnormal heart valve morphology, Splenomegaly, Abnormality of the tonsils, Hepato...	ORPHA:93476
Kleeblattschaedel	Proptosis	OMIM:148800
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Ascites, Increased urinary O-li...	OMIM:256550
Distal Nebulin Myopathy	Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ...	ORPHA:399103
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit...	OMIM:232220
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Goiter, Hashimoto thyroiditis, Paralysis, Hypothyroidism	ORPHA:83601
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia	OMIM:618425
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra...	ORPHA:99832
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Anemia, Hypoplasia of...	ORPHA:1046
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,...	OMIM:611126
Glycogen Storage Disease Iii	Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio...	OMIM:232400
14Q11.2 Microduplication Syndrome	Hypothyroidism, Hypertelorism, Slurred speech	ORPHA:261229
Hemochromatosis, Type 2B	Hepatic fibrosis, Cardiomyopathy, Splenomegaly, Hepatomegaly, Cirrhosis, Anemia	OMIM:613313
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Type 1 fibers relatively smal...	OMIM:255310
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Spasticity, Proptosis	OMIM:618492
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased muscle mass, Cardiomyopathy, Decreased serum testosterone concentration, Congestive hea...	ORPHA:465508
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Hypothyroidism	OMIM:618625
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
3-Methylglutaconic Aciduria Type 7	Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myoclonus, H...	ORPHA:445038
4H Leukodystrophy	Decreased response to growth hormone stimulation test, Abnormality of thyroid physiology, Dysmetr...	ORPHA:289494
Tyrosinemia, Type I	Nephrocalcinosis, Elevated urinary succinylacetone level, Hypertrophic cardiomyopathy, Ascites, R...	OMIM:276700
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Splenomegaly, Jaundice,...	OMIM:121300
Thyroid Hormone Resistance, Selective Pituitary	Elevated circulating thyroid-stimulating hormone concentration, Hyperthyroidism, Impaired sensiti...	OMIM:145650
Foxp1 Syndrome	Spasticity, Abnormal heart morphology, Hypothyroidism, Pulmonary arterial hypertension, Hypertelo...	ORPHA:391372
Congenital Muscular Dystrophy, Fukuyama Type	Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ...	ORPHA:272
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	OMIM:620282
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Hawkinsinuria	Hypothyroidism	ORPHA:2118
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Aicardi-Goutieres Syndrome 9	Spasticity, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Spastic tetraparesis, Spastic te...	OMIM:619487
Stiff Person Spectrum Disorder	Paraspinal muscle hypertrophy, Rigidity, Hypothyroidism, Hyperhidrosis, Exaggerated startle respo...	ORPHA:3198
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Fasting hyperins...	ORPHA:71212
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Hypogonadism, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Enlarged kidney, Nephroblastoma	OMIM:618272
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating hepatic transaminase concentration, Poor coordination, Hypertrophic cardiomy...	OMIM:616878
Bangstad Syndrome	Progressive cerebellar ataxia, Primary gonadal insufficiency, Insulin-resistant diabetes mellitus...	OMIM:210740
Myopathy, Myofibrillar, 3	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista...	OMIM:609200
Dystonia 11, Myoclonic	Tremor, Myoclonus, Torticollis, Writer's cramp	OMIM:159900
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Hypothyroidism, Delayed puberty, Hypertelorism, Camptodactyly of finger	ORPHA:2994
Juvenile Nasopharyngeal Angiofibroma	Facial edema, Epistaxis, Proptosis	ORPHA:289596
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Whipple Disease	Gastrointestinal hemorrhage, Hypotension, Proptosis, Myoclonus, Splenomegaly, Myositis, Hepatomeg...	ORPHA:3452
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Hepatomegaly, Dystonia	OMIM:615924
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ...	OMIM:212112
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Genital edem...	OMIM:616843
Leukodystrophy, Hypomyelinating, 24	Tongue fasciculations, Flexion contracture, Hypothyroidism	OMIM:619851
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Microcephaly 5, Primary, Autosomal Recessive	Proptosis	OMIM:608716
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism	OMIM:619927
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Leg muscle stiffness, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Low...	ORPHA:251282
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Pseudo-Torch Syndrome 3	Acute kidney injury, Lymphadenitis, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocy...	OMIM:618886
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Skeletal muscle atrophy...	OMIM:616719
Dominant Beta-Thalassemia	Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Hypopituitarism, Adrenal...	ORPHA:231226
Maternal Uniparental Disomy Of Chromosome 9	Congenital hypothyroidism, Hamstring contractures	ORPHA:96183
Anaplastic Thyroid Carcinoma	Goiter, Abnormal skeletal muscle morphology, Vocal cord paralysis, Nodular goiter, Anaplastic thy...	ORPHA:142
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy,...	ORPHA:398124
Muscular Dystrophy, Duchenne Type	Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK...	OMIM:310200
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Urethritis, Abnormal mesentery morphology, Hematuria, Abno...	ORPHA:449395
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc...	ORPHA:732
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Malonyl-Coa Decarboxylase Deficiency	Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Reduced malonyl-CoA decarb...	OMIM:248360
B4Galt1-Cdg	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypothyroidism, Hypertelor...	ORPHA:79332
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Jaundice, Cholestasis, Splenomegaly	ORPHA:172
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Cardiomyopathy, Elevated circulating aspartate am...	OMIM:613752
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Hematuria, Proteinuria, Coombs-positive hemolytic anemia, Ly...	OMIM:614034
Machado-Joseph Disease	Spasticity, Distal amyotrophy, Proptosis, Facial-lingual fasciculations, Fasciculations, Limb ata...	OMIM:109150
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:610539
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopa...	OMIM:609981
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E...	OMIM:610755
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Periventricular Nodular Heterotopia 7	Proptosis, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture...	OMIM:617201
Maffucci Syndrome	Pituitary adenoma, Cerebral palsy, Goiter, Neoplasm of the parathyroid gland, Parathyroid adenoma...	ORPHA:163634
Medullary Thyroid Carcinoma	Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Abn...	ORPHA:1332
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur...	OMIM:613426
Mucopolysaccharidosis, Type Iiib	Heparan sulfate excretion in urine, Splenomegaly, Cardiomegaly, Hepatomegaly, Asymmetric septal h...	OMIM:252920
Congenital Bile Acid Synthesis Defect Type 1	Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abnormality, Cirrhosis, Hepatomeg...	ORPHA:79301
Acetazolamide-Responsive Myotonia	Hypothyroidism, Hypertonia, Skeletal muscle hypertrophy	ORPHA:99736
Timothy Syndrome	Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Spasticity, Gait ataxia, Cryptorchidism, Hypotelorism, Hypothyroidism, Delayed puberty, Truncal a...	OMIM:616817
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Elevated circulating aspartate amin...	OMIM:620300
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly, Truncus arteriosus, Ventri...	OMIM:616589
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In...	OMIM:616053
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Distal amyotrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babi...	OMIM:611302
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Multiple joint contractures, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinson...	ORPHA:521406
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormality of...	ORPHA:54251
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells	OMIM:607616
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Cryptorchidism, Ventricular septal defect	OMIM:619908
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular...	OMIM:619566
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ...	ORPHA:216873
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w...	ORPHA:206549
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Isolated Thyroid-Stimulating Hormone Deficiency	Increased pituitary glycoprotein hormone alpha subunit level, Facial edema, Increased circulating...	ORPHA:90674
Chromosome 1P35 Deletion Syndrome	Congenital hypothyroidism, Hypertelorism, Cryptorchidism, Ataxia	OMIM:617930
Fucosidosis	Spasticity, Decreased muscle mass, Abnormality of the gallbladder, Cardiomegaly, Hypothyroidism, ...	ORPHA:349
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic an...	OMIM:603909
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Hydronephrosis, Urethral atresia, Transposition of the great arter...	OMIM:314390
Intrahepatic Cholestasis Of Pregnancy	Elevated circulating hepatic transaminase concentration, Abnormal pineal melatonin secretion, Asc...	ORPHA:69665
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hepati...	OMIM:212065
Wolcott-Rallison Syndrome	Neonatal insulin-dependent diabetes mellitus, Elevated circulating hepatic transaminase concentra...	ORPHA:1667
Dyskinesia, Limb And Orofacial, Infantile-Onset	Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Limb muscle weakness, Tremor, Dysmetria, Babinski sign, Progressive gait...	OMIM:607458
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Hypothyroidism, Elevat...	OMIM:612885
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Abnormality of the urinary system, Splenomegaly	ORPHA:2204
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Machado-Joseph Disease Type 1	Spasticity, Skeletal muscle atrophy, Proptosis, Distal lower limb amyotrophy, Abnormality of extr...	ORPHA:276238
Machado-Joseph Disease Type 2	Spasticity, Skeletal muscle atrophy, Proptosis, Distal lower limb amyotrophy, Abnormality of extr...	ORPHA:276241
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Dilated cardiomyopathy, Renal dysplasia, Renal insufficiency, Lipid accumulation in hepatocytes, ...	OMIM:608836
Morgagni-Stewart-Morel Syndrome	Abnormality of the thyroid gland, Action tremor, Hypertension, Hypothyroidism, Abnormality of the...	ORPHA:77296
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy	ORPHA:100083
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac...	OMIM:602541
Wolfram Syndrome 1	Cardiomyopathy, Tremor, Hypothyroidism, Ataxia, Testicular atrophy, Diabetes insipidus, Diabetes ...	OMIM:222300
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism	OMIM:264300
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart...	OMIM:609015
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tach...	OMIM:300952
Cardiomyopathy, Familial Restrictive, 6	Restrictive cardiomyopathy, Hepatic artery hyperplasia, Ascites, Tricuspid regurgitation, Portal ...	OMIM:619433
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased circulating T4 concentration, Abnormality of thyroid physiology, Reduced radioactive io...	ORPHA:95715
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card...	OMIM:608807
Intellectual Developmental Disorder, Autosomal Dominant 26	Proptosis, Cerebral palsy, Hypertonia, Hypertelorism, Arthrogryposis multiplex congenita	OMIM:615834
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ataxia, Joint contracture of the hand, Distal amyotrophy, Foot joint contracture, Exocrine pancre...	ORPHA:456312
Andersen-Tawil Syndrome	Dilated cardiomyopathy, Prominent U wave, Periodic hypokalemic paresis, Polymorphic and polytopic...	ORPHA:37553
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Beta-Thalassemia Major	Hepatic fibrosis, Hypoplasia of the musculature, Dilated cardiomyopathy, Hypopituitarism, Adrenal...	ORPHA:231214
Ddost-Cdg	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Tremor, Primary hypot...	ORPHA:300536
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Proptosis, Skeletal muscle atrophy, Clonus, Joint contracture, Spastic tetraparesis	OMIM:617481
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Filippi Syndrome	Dystonia, Proptosis, Cryptorchidism, Ventricular septal defect	OMIM:272440
H Syndrome	Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Lymphadenopathy, Abnormality of...	ORPHA:168569
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P...	OMIM:613690
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Type I diabetes mellitus, Proptosis, Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Portal...	ORPHA:228426
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	OMIM:612999
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Bone marrow hypocellularity, Abnormal heart morphology, Heparan sulfate excretion in urine, Hepat...	ORPHA:505248
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice	OMIM:619658
Thyroid Hemiagenesis	Hyperparathyroidism, Thyroid adenoma, Follicular thyroid carcinoma, Graves disease, Elevated circ...	ORPHA:95719
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Potocki-Lupski Syndrome	Hypothyroidism, Atrial septal defect, Patent foramen ovale, Hypertelorism	OMIM:610883
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Prolonged neonatal j...	OMIM:618892
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Goiter, Decreased circulating T4 ...	OMIM:218700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro...	OMIM:607155
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Proptosis, Abnormal heart morphology, Oligohydramnios, Congenital diaphragma...	OMIM:263210
Beta-Thalassemia Intermedia	Cholelithiasis, Decreased liver function, Hypogonadism, Adrenal insufficiency, Hepatosplenomegaly...	ORPHA:231222
Ciliary Dyskinesia, Primary, 53	Polysplenia, Abdominal situs inversus, Situs inversus totalis, Patent foramen ovale, Cardiomegaly...	OMIM:620642
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Atelis Syndrome 1	Hypothyroidism, Atrial septal defect, Hypertonia, Ventricular septal defect	OMIM:620184
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, ...	ORPHA:96
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Dilated cardiomyopathy, Hypotension, Edema, Elevated circulating hepatic transaminase...	ORPHA:20
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
19P13.12 Microdeletion Syndrome	Precocious puberty, Aortic regurgitation, Proptosis, Hepatic steatosis, Cryptorchidism, Ventricul...	ORPHA:254346
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, ST segm...	ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Polyendocrine-Polyneuropathy Syndrome	Proximal muscle weakness in lower limbs, Central hypothyroidism, Decreased serum testosterone con...	ORPHA:453533
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Autoimmune hemolytic anemia, Splen...	OMIM:601859
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis, Tremor	OMIM:158580
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Tetraparesis, Hyperinsulinemia, Limb dystonia, Myoclonus, My...	ORPHA:363400
Cowden Syndrome 5	Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Intenti...	OMIM:615108
Methimazole Embryofetopathy	Polyhydramnios, Hypothyroidism, Abnormality of the thyroid gland, Ventricular septal defect	ORPHA:1923
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H...	OMIM:616860
Leishmaniasis	Leukopenia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Lymphadenop...	ORPHA:507
Cholestasis-Lymphedema Syndrome	Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	OMIM:214900
Melas	Type II diabetes mellitus, Myopathy, Hemiparesis, Ataxia, Hypoparathyroidism, Concentric hypertro...	ORPHA:550
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Abnormality of the lymphat...	ORPHA:1414
Lethal Osteosclerotic Bone Dysplasia	Proptosis	ORPHA:1832
Cystinosis	Type I diabetes mellitus, Portal hypertension, Myopathy, Hypothyroidism, Delayed puberty, Nephrog...	ORPHA:213
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Splenomegaly, Acholic stools, Hepatomegaly, Jaundice	OMIM:619868
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis	OMIM:618120
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Mogs-Cdg	Generalized edema, Hepatosplenomegaly, Pulmonary edema, Cardiomegaly, Left ventricular hypertroph...	ORPHA:79330
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Generalized edema, Pulmonary embolism, Ascites, Budd-Chiari syndrome, Hypothyroidism, Hepatomegal...	OMIM:226300
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Generalized dystonia, Chorea, Myoclonus, Gait ataxia, Left ventricular hy...	OMIM:618321
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Short Stature, Microcephaly, And Endocrine Dysfunction	Dilated cardiomyopathy, Cryptorchidism, Dysmetria, Deeply set eye, Hypotelorism, Apraxia, Hypothy...	OMIM:616541
Hemochromatosis, Type 1	Cardiomyopathy, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Cirrhosis, Testicular atrophy,...	OMIM:235200
Crouzon Syndrome With Acanthosis Nigricans	Proptosis, Hypertelorism	OMIM:612247
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Dahlberg-Borer-Newcomer Syndrome	Lymphedema, Mitral valve prolapse, Hypothyroidism, Hypohidrosis, Hypoparathyroidism	ORPHA:1563
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Abnormal lymph node morphology, Decrease...	ORPHA:85450
Aicardi-Goutieres Syndrome 1	Vasculitis, Spasticity, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, ...	OMIM:225750
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
Atrial Standstill	Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart...	ORPHA:1344
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Abnormality of the lymphatic system, Ovarian serous cystadenoma, Hydrocele testis...	ORPHA:276280
Attrv30M Amyloidosis	Nephropathy, Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	ORPHA:85447
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypogonadotropic hypogonadism, Hypothyroidism, Cryptorchidism	ORPHA:752
X-Linked Sideroblastic Anemia	Anemia, Splenomegaly	ORPHA:75563
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Hypothyroidism, Mitral regurgitation, Hypertelorism	OMIM:619750
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly	ORPHA:664
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney	OMIM:618188
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Proptosis	OMIM:616171
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Elevated circulating hepatic transaminase concentration, Dilated cardiomy...	ORPHA:26793
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Hepatomegaly, Lymph...	ORPHA:457077
Autosomal Dominant Optic Atrophy, Classic Form	Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Hypogonadism, Myopathy, Weakness of faci...	ORPHA:98673
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Type I diabetes mellitus, Proptosis, Hepatitis, Portal hypertension, Hashimoto thyroiditis, Hypot...	OMIM:613385
Congenital Myopathy 22A, Classic	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620351
Frontoocular Syndrome	Hypotelorism, Proptosis, Atrial septal defect, Pulmonic stenosis	OMIM:605321
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Splenomegaly, Hepatocellular carcinoma	OMIM:613490
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Congenital hypothyroidism, Hypertelorism	ORPHA:352530
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Machado-Joseph Disease Type 3	Spasticity, Skeletal muscle atrophy, Proptosis, Distal lower limb amyotrophy, Abnormality of extr...	ORPHA:276244
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp...	OMIM:308240
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Acute hepatic failure, P...	OMIM:616483
Desmoplastic Small Round Cell Tumor	Ascites, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abnormal peritoneum morphology, Anem...	ORPHA:83469
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, ...	ORPHA:79312
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Proptosis, Lymphedema, Ascites, Pancreatic lymphangiectasis, Cryptorchidism, Spl...	OMIM:235255
Tropical Endomyocardial Fibrosis	Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur...	ORPHA:75565
Crigler-Najjar Syndrome Type 1	Prolonged neonatal jaundice, Abnormality of the liver, Tremor, Biliary tract abnormality	ORPHA:79234
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Renal cortical cysts, Vesicoureteral re...	OMIM:130650
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Hepatomegaly, Lymphadenop...	OMIM:619644
Cowden Syndrome 6	Thyroid adenoma, Goiter, Ovarian cyst, Hypothyroidism, Hyperthyroidism, Hydrocele testis, Intenti...	OMIM:615109
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy, Nephroblastoma	ORPHA:654
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Chromosome 2Q37 Deletion Syndrome	Arrhythmia, Hypothyroidism, Subvalvular aortic stenosis, Deeply set eye	OMIM:600430
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Srd5A3-Cdg	Decreased response to growth hormone stimulation test, Hypothyroidism, Elevated circulating hepat...	ORPHA:324737
Thyroid Ectopia	Macroglossia, Elevated circulating thyroid-stimulating hormone concentration, Abnormality of the ...	ORPHA:95712
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Bicuspid aortic valve, R...	ORPHA:401923
Diaphanospondylodysostosis	Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia,...	OMIM:608022
Alpha-Methylacyl-Coa Racemase Deficiency	Spasticity, Abnormality of the liver, Tremor, Hemiparesis, Ataxia, Intention tremor, Hypergonadot...	OMIM:614307
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatosplenomegaly, Splenomegaly, Prolonged neonatal jaundice, Cirrhos...	OMIM:616828
Castleman Disease	Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He...	ORPHA:160
Tyshchenko Syndrome	Proptosis, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Atrial septal defect,...	OMIM:615102
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Upper eyelid edema, Patent foramen ovale, Deeply ...	ORPHA:293939
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep...	OMIM:616278
Parkinsonism-Dystonia 1, Infantile-Onset	Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem...	OMIM:613135
Epilepsy, Progressive Myoclonic, 1B	Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia	OMIM:612437
Osteopetrosis, Autosomal Dominant 3	Anemia, Hyperparathyroidism, Splenomegaly, Hepatomegaly	OMIM:618107
Congenital Pulmonary Lymphangiectasia	Ascites, Splenomegaly, Hepatomegaly, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Lower limb muscle weakness, Tremor, Babinski sign, Lower limb spasticity, Clo...	OMIM:600363
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Lymphopenia, Leukopenia, Splenomegaly, Ventricular septal def...	OMIM:620210
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi...	ORPHA:240103
Rhabdoid Tumor	Renal neoplasm, Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Roifman Syndrome	Splenomegaly, Ventricular septal defect, Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopa...	OMIM:616651
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis	ORPHA:163596
Spinocerebellar Ataxia Type 14	Limb ataxia, Gait ataxia, Myoclonus, Tremor, Abnormality of the Achilles tendon, Rigidity, Progre...	ORPHA:98763
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Proptosis, Cryptorchidism, Hypertelorism	OMIM:618577
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl...	ORPHA:314632
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Increased circulating prolactin concentration, Central adrenal insu...	ORPHA:91347
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Proptosis	ORPHA:85172
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis	ORPHA:2776
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem...	ORPHA:251004
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Macroorchidism	OMIM:300886
Aicardi-Goutieres Syndrome 4	Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	OMIM:610333
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Beta-Thalassemia	Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal...	ORPHA:848
Intellectual Disability-Strabismus Syndrome	Joint contracture of the hand, Spasticity, Decreased response to growth hormone stimulation test,...	ORPHA:363528
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Hypomimic face, Dystonia	OMIM:128235
Monosomy 18P	Hypothyroidism, Hypertension, Generalized dystonia, Lymphedema	ORPHA:1598
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinur...	ORPHA:36412
Frias Syndrome	Proptosis, Hypertelorism	OMIM:609640
Cholesteryl Ester Storage Disease	Hepatomegaly, Jaundice, Cirrhosis, Splenomegaly	ORPHA:75234
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Cryptorchidism, Hypothyroidism, Delayed puberty, Adrenal hypoplasia,...	ORPHA:95496
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria...	ORPHA:549
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Proptosis, Congestive hea...	ORPHA:363705
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Insulin-resistan...	OMIM:203800
Microhydranencephaly	Skeletal muscle atrophy, Proptosis, Multiple joint contractures, Athetosis, Spastic tetraplegia, ...	OMIM:605013
Autoinflammation, Immune Dysregulation, And Eosinophilia	Hepatosplenomegaly, Hypothyroidism, Eosinophilic liver infiltration, Hepatic cysts	OMIM:618999
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Basal Ganglia Calcification, Idiopathic, 1	Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk...	OMIM:213600
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ataxi...	OMIM:607459
Sialidosis Type 2	Skeletal muscle atrophy, Ascites, Splenomegaly, Tremor, Ataxia, Hepatomegaly, Flexion contracture...	ORPHA:87876
Parkinsonism-Dystonia 2, Infantile-Onset	Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Hyperhidrosis, Ataxia, Dystonia, Hypomim...	OMIM:618049
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated circulating hepatic transaminase concentration, Hypogonadism, Adrenal insufficiency, Hep...	ORPHA:300298
Interstitial Lung And Liver Disease	Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevate...	OMIM:615486
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Flexion contracture, Proptosis, Hypertonia, Spasticity	OMIM:618346
American Trypanosomiasis	Cardiomyopathy, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomegaly	ORPHA:3386
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Glycogen Storage Disease Iv	Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hyp...	OMIM:232500
Klatskin Tumor	Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Cholestasis, Ascites, Cardiomegaly, Cardiac myxoma...	ORPHA:615
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Bilateral cryptorchidism, Congestive heart failure,...	ORPHA:2326
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Oculopharyngodistal Myopathy 3	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end...	OMIM:619473
Ohdo Syndrome, Sbbys Variant	Hypothyroidism, Cryptorchidism, Dilated cardiomyopathy	OMIM:603736
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h...	OMIM:235700
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Recurrent urinary tract infections, Elevated urinary inosine level, Lymp...	OMIM:613179
Babesiosis	Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Jaundice, Hemolyti...	ORPHA:108
Poems Syndrome	Increased circulating prolactin concentration, Hypogonadism, Ascites, Primary adrenal insufficien...	ORPHA:2905
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,...	OMIM:617145
Reni Syndrome	Hypogonadism, Adrenal insufficiency, Cryptorchidism, Hypothyroidism, Ataxia, Edema	OMIM:617575
Multiple Endocrine Neoplasia, Type Iia	Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo...	OMIM:171400
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Osteopetrosis, Autosomal Recessive 8	Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia	OMIM:615085
Prolidase Deficiency	Proptosis, Elevated circulating aspartate aminotransferase concentration, Prolonged neonatal jaun...	OMIM:170100
Gaucher Disease, Type Iiic	Aortic valve calcification, Pancytopenia, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral val...	OMIM:231005
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Dystonia, Hypothyroidism	OMIM:607906
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Proptosis, Camptodactyly of finger, Ventric...	ORPHA:1425
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Propionic Acidemia	Hepatomegaly, Arrhythmia, Propionyl-CoA carboxylase deficiency, Cardiomyopathy	ORPHA:35
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Hepatic steatosis	OMIM:612526
Galloway-Mowat Syndrome 6	Decreased response to growth hormone stimulation test, Hypothyroidism	OMIM:618347
Ventricular Tachycardia, Familial	Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy	OMIM:192605
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Involuntary movements, Elevated circulating hepatic transaminase concentration, Abnormal EKG, Inc...	ORPHA:480864
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Primary adrenal insufficiency, Type II dia...	OMIM:269200
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Cardiomegaly, Iron deficiency anemia, Glomerulonephritis, Hepatomegaly	ORPHA:99931
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei...	OMIM:232200
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nodular regenerative hyperplasia of liver, Macular edema, Gastrointestinal hemorrhage, Abnormalit...	ORPHA:247691
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulati...	ORPHA:97289
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hyperaldosteronism, Pulmonary edema, Hyperkinet...	ORPHA:73224
Mccune-Albright Syndrome	Precocious puberty, Increased circulating cortisol level, Increased circulating prolactin concent...	ORPHA:562
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Multicentric Carpotarsal Osteolysis Syndrome	Proptosis, Hypertension, Congenital diaphragmatic hernia	OMIM:166300
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly, Thrombocyt...	OMIM:619463
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased...	ORPHA:263297
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Precocious puberty, Abnormal circulating aldosterone, Increased circulating ACTH level, Congenita...	OMIM:614736
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Ataxia, Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Dysmetria, Skelet...	OMIM:616263
Pontocerebellar Hypoplasia, Type 3	Spasticity, Proptosis	OMIM:608027
Stickler Syndrome Type 1	Proptosis, Mitral valve prolapse	ORPHA:90653
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Ascites, Splenomegaly, Prolonged neonatal jaundice, Ly...	OMIM:257200
Cowden Syndrome 1	Thyroid adenoma, Goiter, Ovarian cyst, Ovarian carcinoma, Hypothyroidism, Hyperthyroidism, Hydroc...	OMIM:158350
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Rhizomelic Limb Shortening With Dysmorphic Features	Proptosis, Patent foramen ovale	OMIM:618821
Immunodeficiency 10	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Splenomegaly, Abnormal lymphocyt...	OMIM:612783
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Optic Pathway Glioma	Precocious puberty, Proptosis	ORPHA:2086
Holoprosencephaly 11	Proptosis, Hypotelorism, Polysplenia	OMIM:614226
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypothyroidism	ORPHA:2491
Donnai-Barrow Syndrome	Proptosis, Hypertelorism, Congenital diaphragmatic hernia, Ventricular septal defect	ORPHA:2143
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Male hypogonadism, Type I diabetes mellitus, Cholelithiasis, Adrenal insufficiency, Primary adren...	OMIM:240300
Aicardi-Goutieres Syndrome 7	Vasculitis, Hematochezia, Hepatitis, Tetraparesis, Hypertrophic cardiomyopathy, Oligohydramnios, ...	OMIM:615846
Ataxia-Telangiectasia	Ataxia, Spasticity, Elevated circulating hepatic transaminase concentration, Skeletal muscle atro...	ORPHA:100
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Thenar muscle atrophy, Flexion contracture	ORPHA:157965
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Ascites, Splenomegaly, Cirrhosis,...	OMIM:602347
Coenzyme Q10 Deficiency, Primary, 9	Type 2 muscle fiber predominance, Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia	OMIM:619028
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Carney Complex, Type 1	Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Thyroid carcinoma, Thyroid follicu...	OMIM:160980
Acrocardiofacial Syndrome	Proptosis, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis, Cryptorchidism, Ventric...	ORPHA:2008
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Glomerulopat...	ORPHA:91138
Aggressive Systemic Mastocytosis	Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of C...	ORPHA:98850
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Intellectual Developmental Disorder, Autosomal Dominant 52	Bilateral cryptorchidism, Cryptorchidism, Deeply set eye, Hypothyroidism, Scapular winging, Hyper...	OMIM:617796
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly, Pe...	OMIM:261740
Carcinoid Syndrome	Increased serum serotonin, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100093
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Ritscher-Schinzel Syndrome 4	Proptosis, Chorea, Cryptorchidism, Hypotelorism, Deeply set eye, Ataxia, Athetosis, Hypertelorism	OMIM:619435
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypothyroidism, Hypertension, Deeply set eye	OMIM:617763
Beckwith-Wiedemann Syndrome	Nephropathy, Visceromegaly, Polycythemia, Abnormal pancreas morphology, Hypertrophic cardiomyopat...	ORPHA:116
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Oculopharyngodistal Myopathy 4	Rimmed vacuoles, Increased variability in muscle fiber diameter, Postural tremor, Tremor, Weaknes...	OMIM:619790
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Alg9-Cdg	Periportal fibrosis, Right ventricular dilatation, Hypoplasia of the bladder, Abnormal heart morp...	ORPHA:79328
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm...	OMIM:610978
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h...	OMIM:615234
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Donohue Syndrome	Precocious puberty, Hepatic fibrosis, Skeletal muscle atrophy, Proptosis, Cholestasis, Hyperinsul...	OMIM:246200
Subcorneal Pustular Dermatosis	Hypothyroidism, Hyperthyroidism	ORPHA:48377
Developmental And Epileptic Encephalopathy 48	Proptosis, Limb hypertonia	OMIM:617276
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, El...	OMIM:613812
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Portal fibrosis, Biliary cirrhosis, Cholestasis, Ascites, Vesicoureter...	OMIM:617394
Lig4 Syndrome	Type II diabetes mellitus, Cryptorchidism, Hypotelorism, Telangiectasia, Hypothyroidism	OMIM:606593
Autosomal Spastic Paraplegia Type 58	Spasticity, Distal amyotrophy, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Ti...	ORPHA:397946
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Male hypogonadism, Spastic tetraplegia, Spastic gait, Resting tremor, Bradyki...	OMIM:300055
Congenital Myopathy 22B, Severe Fetal	Hypoplasia of the musculature, Shoulder flexion contracture, Proptosis, Ascites, Elbow flexion co...	OMIM:620369
Thanatophoric Dysplasia	Polyhydramnios, Increased nuchal translucency, Proptosis, Atrial septal defect	ORPHA:2655
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Spastic paraparesis, Proptosis, Decreased response to growth hormone stimulation test, Bilateral ...	OMIM:619234
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Myoclonus, Gait ataxia, Dysmetria, Myopathy, Tremor, Dystonia, Dysdiadocho...	ORPHA:254881
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ...	OMIM:115197
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Dilated cardiomyopathy, Anasarca, Third degree atrioventricular block, Ascites, ...	OMIM:619573
Thanatophoric Dysplasia Type 2	Polyhydramnios, Increased nuchal translucency, Proptosis, Atrial septal defect	ORPHA:93274
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Ectopic thyroid, Camptodactyly of finger, Atrioventricular canal defect, Cryptorchidism, Ventricu...	ORPHA:3047
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Spinocerebellar Ataxia 48	Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia	OMIM:618093
Microform Holoprosencephaly	Tetralogy of Fallot, Panhypopituitarism, Hypotelorism, Hypothyroidism, Maternal diabetes, Cyclopi...	ORPHA:280200
Felty Syndrome	Bone marrow hypocellularity, Recurrent urinary tract infections, Abnormal lymphocyte morphology, ...	ORPHA:47612
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance...	OMIM:605355
Myopathy, Myofibrillar, 4	Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto...	OMIM:609452
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Syncope, Dilated cardiomyopathy, Ventricular tachycardia	OMIM:615821
Striatal Degeneration, Autosomal Dominant 1	Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Hyperhidrosis, Hy...	ORPHA:70594
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Renal insufficiency, Lymphadenopathy, Thrombocytopenia	ORPHA:83313
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Proteinuria, Hepatomegaly, My...	ORPHA:829
Mucolipidosis Ii Alpha/Beta	Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enl...	OMIM:252500
Metaphyseal Chondrodysplasia, Jansen Type	Proptosis, Hip contracture, Knee flexion contracture, Elevated circulating alkaline phosphatase c...	OMIM:156400
Seckel Syndrome 7	Central hypothyroidism, Hypotelorism	OMIM:614851
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Hematochezia, Elevated circulating hepatic transaminase concentration, Skeletal...	OMIM:615895
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Hepatic fibrosis, Nephronophthisis, Cholestasis, Splenomegaly, Ventricula...	OMIM:615630
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Stage 5 chronic kidney d...	OMIM:194080
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Tetraparesis, Paraparesis, Pancreatitis, Ataxia, Hepatomegaly, Choreoathetosis, D...	ORPHA:27
Gallbladder Disease 1	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Portal...	OMIM:600803
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Ichthyosis, Congenital, Autosomal Recessive 4B	Proptosis, Rigidity	OMIM:242500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Spastic paraparesis, Hypotelorism, Hypothyroidism, Delayed puberty, Diabetes mellitus	ORPHA:391408
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Oculopharyngodistal Myopathy 1	Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Dilated cardi...	OMIM:164310
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Skeletal muscle atrophy, Resting tremor, Incoordination, Limb fasciculations...	OMIM:615157
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Patent foramen ovale, Portal vein thrombosis, Right atrial enlargeme...	OMIM:616028
Immunodeficiency 102	Hepatomegaly, Nodular regenerative hyperplasia of liver, Hypothyroidism	OMIM:301082
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S...	OMIM:266200
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Ret...	OMIM:194380
Glycogen Storage Disease Ixa1	Hepatomegaly, Splenomegaly	OMIM:306000
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Chorea, Splenomegaly, Tremor, Ventricula...	OMIM:615673
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Ogden Syndrome	Cardiogenic shock, Proptosis, Cryptorchidism, Ventricular septal defect, Arrhythmia, Hypertonia, ...	ORPHA:276432
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Anemia, Hepatomegaly, Splenomegaly	OMIM:620296
Polyendocrine-Polyneuropathy Syndrome	Type I diabetes mellitus, Central hypothyroidism, Decreased testicular size, Hypogonadotropic hyp...	OMIM:616113
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Hepatomegaly, Atrial septal defect, Thrombocytopenia, An...	ORPHA:290
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Hypermanganesemia With Dystonia 2	Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa...	OMIM:617013
Peripheral Primitive Neuroectodermal Tumor	Precocious puberty, Proptosis, Lower limb muscle weakness, Ascites, Pancreatitis, Torticollis, Ja...	ORPHA:370348
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Reduced natural killer cell count, Hemophagocytosis, Hepatocellular carcinoma, Hepatosplenomegaly...	ORPHA:158057
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Hepatic steatosis, Nephrolithiasis, Proteinuria...	ORPHA:79259
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemia, Tremor, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hyper...	ORPHA:276608
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Fragile X-Associated Tremor/Ataxia Syndrome	Hypotension, Gait ataxia, Dysmetria, Rigidity, Parkinsonism, Hypothyroidism, Ataxia, Bradykinesia...	ORPHA:93256
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Spasticity, Lower limb muscle weakness, Rhabdomyolysis, Hypothyroidism, Limb-girdle muscle weakne...	OMIM:251900
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Gait ataxia, Myoclonus, R...	ORPHA:70595
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Hemiplegia/hemiparesis, Mitral valve pro...	ORPHA:758
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Cowden Syndrome 7	Hashimoto thyroiditis, Ductal carcinoma in situ, Papillary thyroid carcinoma, Goiter	OMIM:616858
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial s...	OMIM:618652
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul...	ORPHA:64743
Vitamin K Antagonist Embryofetopathy	Macroglossia, Proptosis, Hypertelorism	ORPHA:1914
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Edema, Ventricular septal defect	OMIM:618348
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Decreased carnitine level in ...	OMIM:212140
Mitochondrial Dna-Associated Leigh Syndrome	Spasticity, Dilated cardiomyopathy, Hepatic failure, Hypertrophic cardiomyopathy, Chorea, Gait at...	ORPHA:255210
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno...	OMIM:602782
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Chitayat Syndrome	Polyhydramnios, Proptosis, Hypertelorism	OMIM:617180
Pearson Syndrome	Hepatic steatosis, Ataxia, Hepatomegaly, Hypoparathyroidism, Hypoplastic spleen, Decreased respon...	ORPHA:699
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Ventilator-Induced Diaphragmatic Dysfunction	Diaphragmatic paralysis, Hypothyroidism, Abnormality of the diaphragm	ORPHA:505395
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Fasciculations, Limb muscle weakness, Tremor, Calf muscle hypertrophy, Testicular atrophy	OMIM:313200
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Anasarca, Elevated circulating thyroid-stimulating hormone concentration, Ascites, ...	OMIM:618183
Dural Sinus Malformation	Proptosis, Subdural hemorrhage, Tetraparesis, Cerebral hemorrhage, Intracranial hemorrhage, Hemip...	ORPHA:97339
Alexander Disease	Precocious puberty, Ataxia, Spasticity, Hypotension, Chorea, Tremor, Hypertension, Hypothyroidism...	ORPHA:58
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Supernumerary nipple, Cryptorchidism, Deeply set eye, Hypothyroidism, Hypohidrosis, Hypertelorism...	ORPHA:1812
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Congenitally Uncorrected Transposition Of The Great Arteries	Biventricular hypertrophy, Dextrotransposition of the great arteries, Abnormal pulmonary valve mo...	ORPHA:860
Erdheim-Chester Disease	Proptosis, Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swe...	ORPHA:35687
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Proptosis, Atrial septal defect, Hypertelorism	OMIM:618354
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Nephrotic Syndrome, Type 1	Hypothyroidism, Edema	OMIM:256300
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Ventricular tachycar...	OMIM:605676
Localized Scleroderma	Vasculitis, Skeletal muscle atrophy, Proptosis, Myopathy, Deeply set eye, Hashimoto thyroiditis, ...	ORPHA:90289
Jung Syndrome	Hypothyroidism	ORPHA:2321
Waldenström Macroglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Proptosis, Congestive heart failure, Pleural ...	ORPHA:33226
Adult-Onset Distal Myopathy Due To Vcp Mutation	Rimmed vacuoles, Necrotizing myopathy, Fasciculations, Facial diplegia, Foot dorsiflexor weakness...	ORPHA:329478
Mulibrey Nanism	Ascites, Nephroblastoma, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis	OMIM:253250
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated circulating hepatic transaminase concentration, Proptosis, Decreased muscle mass, Shallo...	ORPHA:73230
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:613280
Dysbetalipoproteinemia	Tendon xanthomatosis, Hepatic steatosis, Angina pectoris, Hypothyroidism, Hepatomegaly, Acute pan...	ORPHA:412
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt...	ORPHA:158061
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:611490
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Transient neutro...	ORPHA:500095
Wolman Disease	Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells	ORPHA:75233
Thyrotoxic Periodic Paralysis	Graves disease, Abnormal muscle fiber morphology, Lower limb muscle weakness, Periodic hypokalemi...	ORPHA:79102
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi...	OMIM:620138
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Decreased response to growth hormone stimulation test, Hypotelorism, Ventri...	OMIM:614114
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Ascites, Lymphop...	ORPHA:93552
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen...	OMIM:226990
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Type I diabetes mellitus, Atrioventricular block, Mitral valve prolapse, Polycystic ovaries, Vent...	ORPHA:371428
Abetalipoproteinemia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Congestive heart failu...	ORPHA:14
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu...	OMIM:304790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Atr...	OMIM:253800
Cerebrotendinous Xanthomatosis	Tendon xanthomatosis, Distal amyotrophy, Cholelithiasis, Spasticity, Spastic paraparesis, Resting...	ORPHA:909
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab...	ORPHA:1451
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Patent ...	OMIM:606003
Glutathionuria	Hypotelorism, Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Vasculitis, Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Di...	OMIM:615688
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Elevated circulating hepatic transaminase concentration, Portal hypertension, Spo...	OMIM:615506
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de...	OMIM:616866
Drug Reaction With Eosinophilia And Systemic Symptoms	Hepatitis, Renal insufficiency, Eosinophilia, Lymphocytosis, Lymphadenopathy, Myocarditis, Tubulo...	ORPHA:139402
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Proptosis, Hypertelorism	OMIM:618961
Combined Oxidative Phosphorylation Deficiency 3	Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Patent foramen ovale, Rhabdomyoly...	OMIM:610505
Adiposis Dolorosa	Telangiectasia of the skin, Hypothyroidism, Xerostomia	ORPHA:36397
Teebi Hypertelorism Syndrome 2	Proptosis, Hypertelorism	OMIM:619736
Lig4 Syndrome	Type II diabetes mellitus, Cryptorchidism, Telangiectasia of the skin, Hypothyroidism, Hepatomegaly	ORPHA:99812
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension...	OMIM:212138
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Increased variability in muscle fiber diameter, Dysdiadochokinesis, Increased circulating prolact...	ORPHA:502423
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Proptosis, Deeply set eye	OMIM:618707
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Lef...	ORPHA:85451
Oculoskeletodental Syndrome	Elbow flexion contracture, Cryptorchidism, Splenomegaly, Hepatomegaly, Hypothyroidism, Lacunar st...	OMIM:618440
Syndromic Diarrhea	Aortic regurgitation, Hepatic fibrosis, Abnormal heart morphology, Tetralogy of Fallot, Abnormali...	ORPHA:84064
Wyburn-Mason Syndrome	Epistaxis, Proptosis, Cerebral palsy, Hemiparesis, Subarachnoid hemorrhage, Cerebral hemorrhage	ORPHA:53719
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Steinert Myotonic Dystrophy	Hyperinsulinemia, Pelvic girdle muscle weakness, Prolonged PR interval, Secondary hyperparathyroi...	ORPHA:273
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy...	ORPHA:352649
Pseudohypoparathyroidism, Type Ic	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:612462
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Patent foramen ovale, Ventricular septal d...	OMIM:609053
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Polyhydramnios, Proptosis, Camptodactyly of finger	ORPHA:2774
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Hand tremor, Hand muscle weakness, Incoordination, Distal lower limb amyotrophy, Distal upper lim...	OMIM:302800
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Cardiomyopathy, Splenomegaly, Macrocytic anemia	OMIM:619046
Coach Syndrome 1	Unilateral renal agenesis, Hepatic fibrosis, Nephronophthisis, Abnormal abdomen morphology, Multi...	OMIM:216360
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Neutral Lipid Storage Myopathy	Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Increased circulating l...	ORPHA:98908
Jackson-Weiss Syndrome	Proptosis, Hypertelorism	ORPHA:1540
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Mitral valve prolapse, Hypothyroidism, Hyperthyroidism, Hypertension, Diabetes mellitus	ORPHA:449291
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Prolonged neona...	OMIM:185000
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension, Oculogyric crisis, Increased circulating prolactin concentration, Tremor, Babinski s...	ORPHA:35708
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Abnormality of the parathyroid gland, Polycystic ovaries	ORPHA:2969
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Cenani-Lenz Syndrome	Hypothyroidism, Proptosis, Hypertelorism	ORPHA:3258
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Hypertr...	ORPHA:51
Amish Nemaline Myopathy	Shoulder flexion contracture, Type 1 muscle fiber predominance, Hip contracture, Tremor, Proximal...	ORPHA:98902
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ...	OMIM:619574
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Proptosis, Congestive heart failure, Diastasis recti, Mitral regurgitation,...	ORPHA:423461
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly	OMIM:235555
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Central hypothyroidism, Contracture of the proximal interphalangeal joint of the 2nd finger, Bila...	OMIM:300998
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Proptosis, Hypertelorism	ORPHA:93262
Multiple Endocrine Neoplasia Type 1	Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma...	ORPHA:652
Cutis Laxa, Autosomal Recessive, Type Iie	Proptosis	OMIM:619451
Choreoacanthocytosis	Resting tremor, Muscle fiber atrophy, Limb dystonia, Myopathy, Parkinsonism, Elevated circulating...	ORPHA:2388
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Postural tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Babinski sign, Del...	OMIM:607694
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Type I diabetes mellitus, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Hypothyroidism, ...	OMIM:615952
Smith-Magenis Syndrome	Precocious puberty, Deeply set eye, Hypothyroidism, Delayed puberty, Hypertelorism	ORPHA:819
Mixed Connective Tissue Disease	Nephropathy, Leukopenia, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Myocarditis, Hepatomega...	ORPHA:809
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Decreased response to growth hormone stimulation test, Panhypopituitarism, Hypothyroidism, Limb h...	OMIM:618922
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Marbach-Rustad Progeroid Syndrome	Proptosis, Ventricular septal hypertrophy, Shallow orbits, Pulmonary insufficiency, Right bundle ...	OMIM:619322
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonary embolism, Angioedema, Congestive heart...	ORPHA:3260
Lowry-Maclean Syndrome	Abnormality of the abdominal organs, Proptosis, Bilateral cryptorchidism, Atrioventricular canal ...	ORPHA:2409
Meningioma	Increased circulating prolactin concentration, Lower limb muscle weakness, Hemifacial spasm, Neop...	ORPHA:2495
Ogden Syndrome	Secundum atrial septal defect, Polycythemia, Decreased testicular size, Cryptorchidism, Patent fo...	OMIM:300855
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Hematochezia, Cholelithiasis, Giant cell hepatitis, Elevated circulati...	ORPHA:79095
Q Fever	Hepatitis, Abnormal heart valve morphology, Hepatosplenomegaly, Abnormality of the liver, Splenom...	ORPHA:781
Cerebral Creatine Deficiency Syndrome 2	Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ...	OMIM:612736
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Oliguria, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Caffey Disease	Proptosis	ORPHA:1310
Hyperphenylalaninemia, Bh4-Deficient, A	Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor...	OMIM:261640
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Decreased response to growth hormone stimulation test, Oligohydramnios, ...	ORPHA:488632
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252900
Endocrine-Cerebroosteodysplasia	Microphallus, Hyperechogenic kidneys, Cryptorchidism, Hypospadias, Enlarged kidney	OMIM:612651
Muenke Syndrome	Proptosis, Hypertelorism	OMIM:602849
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Left atrial e...	OMIM:300280
Galloway-Mowat Syndrome 10	Congenital hypothyroidism, Myoclonus	OMIM:619609
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Tremor, Hyperki...	ORPHA:457240
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutrop...	ORPHA:540
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Proptosis, Limb myoclonus, Clumsiness, Ataxia	ORPHA:352582
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Urinary retention, Absence of lymph node germinal center,...	ORPHA:79124
Glycogen Storage Disease Ixc	Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatomegaly, Bile duct proliferation	OMIM:613027
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Leg muscle stiffness, Myoclonus, Tremor, Rigidity, Dystonia, Babi...	OMIM:606693
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Proptosis, Camptodactyly of finger, ...	ORPHA:2215
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Congenital hypothyroidism, Rigidity, Abnormality of extrapyrami...	OMIM:617527
Immunodeficiency With Hyper-Igm, Type 1	Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Sandhoff Disease	Increased urinary N-acetylglucosamine-rich oligosaccharide level, Hepatosplenomegaly, Cardiomegal...	OMIM:268800
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Orchitis, Hematuria, Proteinuria, Abnorma...	ORPHA:2035
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Proptosis, Appendicular spasticity, Apraxia, Oculomotor apraxia, Hypertelorism	OMIM:620250
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Hematochezia, Proptosis, Oligohydramnios, Atrial septal de...	ORPHA:261311
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,...	OMIM:278000
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Absent extraocular muscles, Proptosis, Hypertelorism	OMIM:109120
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Hypertelorism	ORPHA:2165
Gaucher Disease, Type I	Aortic valve stenosis, Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia,...	OMIM:230800
Monosomy 18Q	Aortic valve stenosis, Secondary growth hormone deficiency, Secundum atrial septal defect, Absenc...	ORPHA:1600
Aceruloplasminemia	Blepharospasm, Involuntary movements, Abnormal pancreas morphology, Congestive heart failure, Cho...	ORPHA:48818
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Cardiomegaly, Pericardial effusion, Ascites	OMIM:614702
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis	OMIM:618398
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Noonan Syndrome	Proptosis, Lymphedema, Hypertrophic cardiomyopathy, Delayed menarche, Abnormal EKG, Abnormality o...	ORPHA:648
Trisomy 12P	Proptosis, Hypertelorism, Supernumerary nipple	ORPHA:1699
Crouzon Syndrome	Proptosis, Hypertelorism	ORPHA:207
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Cardiomyopathy, Dysmetria, Tremor, Limb hypertonia, Hypertonia, Ataxia, ...	OMIM:617710
Silver-Russell Syndrome Due To A Point Mutation	Oligohydramnios, Hypothyroidism, Cryptorchidism	ORPHA:397590
Pseudohypoparathyroidism, Type Ia	Hypogonadism, Hypothyroidism, Elevated circulating parathyroid hormone level, Pseudohypoparathyro...	OMIM:103580
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig...	OMIM:600116
Neuroendocrine Tumor Of The Colon	Increased serum serotonin, Abnormal pulmonary valve cusp morphology, Hypotension, Elevated circul...	ORPHA:100080
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Congenital hypothyroidism, Cryptorchidism, Ventricular septal defect, Pulmo...	ORPHA:2519
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Dilated cardiomyopathy, Dehydration	OMIM:251110
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Hypothyroidism, Cryptorchidism	ORPHA:85321
Igg4-Related Dacryoadenitis And Sialadenitis	Facial edema, Enlarged lacrimal glands, Xerostomia, Proptosis, Abnormality of the submandibular g...	ORPHA:79078
Aminopterin/Methotrexate Embryofetopathy	Proptosis, Tetralogy of Fallot, Situs inversus totalis, Ventricular septal defect, Hypertelorism	ORPHA:1908
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Enlarged kidney, Renal dysplasia	OMIM:613091
Bohring-Opitz Syndrome	Proptosis, Supernumerary nipple, Ventricular septal defect, Hyperechogenic pancreas, Camptodactyl...	OMIM:605039
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatic fibrosis, Hepatic failure, Proptosis, Tetralogy of Fallot, Cholesta...	OMIM:222470
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Acrodysostosis 2 With Or Without Hormone Resistance	Congenital hypothyroidism, Diabetes mellitus, Cryptorchidism	OMIM:614613
Secondary Short Bowel Syndrome	Cholestasis, Central hypothyroidism, Dehydration, Primary hypothyroidism	ORPHA:95427
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Hepatocellular necrosis,...	OMIM:201475
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Type I diabetes mellitus, Hypothyroidism	OMIM:620430
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Micronodular cirrho...	ORPHA:309854
Insulinoma	Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden...	ORPHA:97279
Chromosome 5P13 Duplication Syndrome	Proptosis, Hypotelorism, Hypertelorism	OMIM:613174
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Decreased liver function, Exocrine pancreatic insufficiency, Splenomegaly, Ventri...	OMIM:618268
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Hypotelorism, Left ve...	OMIM:242840
Bone Marrow Failure Syndrome 6	Hypothyroidism	OMIM:618849
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Facial edema, Macroglossia, Hypopituitarism, Decreased circulating T...	ORPHA:226307
Spondyloenchondrodysplasia	Vasculitis, Spasticity, Hepatitis, Decreased response to growth hormone stimulation test, Chorea,...	ORPHA:1855
Parkinsonism-Dystonia 3, Childhood-Onset	Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia	OMIM:619738
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Congestive heart failure, Myoclonus, Hepatic steatosis, Tremor, Hyperkinetic movement...	OMIM:616271
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Splenomegaly, Cirrhosis, Acholic stools, Hepatome...	OMIM:607765
Chromosome 1P36 Deletion Syndrome, Proximal	Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric...	OMIM:619343
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Distal Deletion 10Q	Spasticity, Proptosis, Facial diplegia, Hypotelorism, Oculomotor apraxia, Clonus, Atrial septal d...	ORPHA:96148
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Increased circulating prolacti...	OMIM:617675
Dyssegmental Dysplasia, Silverman-Handmaker Type	Proptosis, Abnormal heart morphology, Cryptorchidism, Flexion contracture, Hydrops fetalis	ORPHA:1865
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis	OMIM:614078
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Hypertelorism, Ataxia	ORPHA:2479
Shashi-Pena Syndrome	Proptosis, Limb hypertonia, Atrial septal defect, Hypertelorism	OMIM:617190
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly, Oligosacchariduria	ORPHA:3137
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormal heart morphology, Atrioventricular canal defect, Increased nuchal translucency, Pleural ...	ORPHA:453499
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism	OMIM:601427
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Cardiomyopathy, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Pu...	OMIM:105210
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:617591
Budd-Chiari Syndrome	Ascites, Portal hypertension, Cholecystitis, Splenomegaly, Peritonitis, Cirrhosis, Hepatomegaly, ...	ORPHA:131
Martin-Probst Syndrome	Cryptorchidism, Telangiectasia, Hypoplastic nipples, Hypothyroidism, Hypertelorism	OMIM:300519
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocyto...	OMIM:616084
Maternal Uniparental Disomy Of Chromosome 2	Contractures of the large joints, Bilateral cryptorchidism, Decreased response to growth hormone ...	ORPHA:96179
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect	OMIM:617022
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Fetal Cytomegalovirus Syndrome	Hepatitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice	ORPHA:294
Neutrophilic Dermatosis, Acute Febrile	Dilated cardiomyopathy, Small vessel vasculitis	OMIM:608068
Osteopetrosis, Autosomal Recessive 5	Hepatic failure, Proptosis, Ascites, Hepatosplenomegaly, Splenomegaly, Limb hypertonia, Clonus, H...	OMIM:259720
Thanatophoric Dysplasia Type 1	Polyhydramnios, Increased nuchal translucency, Proptosis, Atrial septal defect	ORPHA:1860
Rabson-Mendenhall Syndrome	Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperinsulinemia, Cardiomyopathy...	ORPHA:769
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Dicarboxylic aciduria, Hepatic steatosis, Cardiomegaly, H...	ORPHA:42
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Polyhydramnios, Hypothyroidism, Atrial septal defect, Joint contracture	OMIM:618005
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Hepatomegaly, Lymph...	OMIM:603553
Primary Triglyceride Deposit Cardiomyovasculopathy	Rimmed vacuoles, Cardiomyopathy, Coronary artery stenosis, Abnormality of the shoulder girdle mus...	ORPHA:565612
Hyperostosis Cranialis Interna	Facial palsy, Proptosis	OMIM:144755
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Duplication of renal pelvis, Polysplenia, Supernumerary ...	OMIM:312870
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Hypertrophic cardiomyopathy, Ventricular hypertrophy, Cardiomegaly	OMIM:619051
Mevalonic Aciduria	Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ...	OMIM:610377
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Atelosteogenesis Type I	Polyhydramnios, Hypertelorism, Proptosis, Abnormal pancreatic duct morphology	ORPHA:1190
Familial Multinodular Goiter	Sertoli cell neoplasm, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Multinodular goiter, Testicu...	ORPHA:276399
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d...	OMIM:612953
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head...	OMIM:618877
Cardiofaciocutaneous Syndrome 1	Proptosis, Hypertrophic cardiomyopathy, Splenomegaly, Oculomotor apraxia, Atrial septal defect, H...	OMIM:115150
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Hereditary Spherocytosis	Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu...	ORPHA:822
Ring Chromosome 12 Syndrome	Breast hypoplasia, Hypothyroidism, Secundum atrial septal defect, Cryptorchidism	ORPHA:1439
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency, Hepatic steatosis, C...	ORPHA:228308
16Q24.3 Microdeletion Syndrome	Mitral regurgitation, Dilated cardiomyopathy, Cryptorchidism, Ventricular septal defect	ORPHA:261250
Neu-Laxova Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph...	ORPHA:2671
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Helsmoortel-Van Der Aa Syndrome	Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu...	OMIM:615873
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Elevated circulating thyroid-stimulating hormone concentration, Pancreatic hypo...	OMIM:610199
Familial Pancreatic Carcinoma	Peritoneal abscess, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepatosplenomeg...	ORPHA:1333
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, Positive regitine blocking test...	ORPHA:94080
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Bainbridge-Ropers Syndrome	Precocious puberty, Proptosis, Supernumerary nipple, Cryptorchidism, Deeply set eye, Hypertonia, ...	OMIM:615485
Nestor-Guillermo Progeria Syndrome	Proptosis, Sinus tachycardia, Mitral regurgitation, Hypertension, Left atrial enlargement, Pulmon...	OMIM:614008
Mccune-Albright Syndrome	Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,...	OMIM:174800
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Proptosis, Ventricular septal defect	OMIM:617895
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Familial Adenomatous Polyposis	Neoplasm of the gallbladder, Pituitary adenoma, Goiter, Pancreatic adenocarcinoma, Abnormality of...	ORPHA:733
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension...	OMIM:620367
Congenital Disorder Of Glycosylation, Type Iig	Proptosis, Cryptorchidism, Left ventricular hypertrophy, Hypertelorism, Camptodactyly	OMIM:611209
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypothyroidism, Spastic tetraplegia, Hypertonia	OMIM:619147
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
Agammaglobulinemia, X-Linked	Cor pulmonale, Recurrent urinary tract infections, Lymph node hypoplasia, Neutropenia, B lymphocy...	OMIM:300755
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ascites, Ventricular septal defect, Hydronephrosis, Cardiomegaly, Mi...	OMIM:616897
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Oculoectodermal Syndrome	Proptosis, Supernumerary nipple, Hypertrophic cardiomyopathy, Lymphedema, Transient ischemic atta...	OMIM:600268
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Intrinsic hand muscle atrophy, Spasticity, Hypothyroidism	OMIM:618569
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Dilated cardiomyopathy, Poor fine motor coordination, Pulmonary embolism, Subdural hemorrhage, Ab...	ORPHA:79282
Pallister-Hall Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Panhypopituitarism, De...	OMIM:146510
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Ascites, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leu...	ORPHA:77259
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Tetraplegia, Bradycardia	OMIM:610768
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Phace Association	Congenital hypothyroidism, Ventricular septal defect, Lingual thyroid	OMIM:606519
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Generalized dystonia, Multiple joint contractures, Tremor, Babinski sign, Torticol...	OMIM:128100
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Tremor, Arrhythmia, Hypertonia, Ataxia, Hep...	ORPHA:99745
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Hydrocele testis, Congenital hypothyroidism, Patent foramen ovale, Prolonged neona...	OMIM:620186
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252930
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Cholestasis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Jaundice	OMIM:618641
Cole-Carpenter Syndrome 2	Oligohydramnios, Proptosis, Hypertelorism	OMIM:616294
Isolated Exencephaly	Proptosis, Maternal diabetes, Anterior pituitary hypoplasia, Polyhydramnios, Posterior pituitary ...	ORPHA:563612
Muenke Syndrome	Proptosis, Hypertelorism	ORPHA:53271
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
1P36 Deletion Syndrome	Dilated cardiomyopathy, Annular pancreas, Camptodactyly of finger, Hypogonadism, Abnormal heart v...	ORPHA:1606
20Q11.2 Microduplication Syndrome	Proptosis, Cryptorchidism, Lingual dystonia, Periorbital edema, Palpebral edema	ORPHA:363659
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy, Abnormal renal physiology	OMIM:266500
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome, Abno...	ORPHA:29073
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Anterior pituitary agenesis, Hypoplastic tricuspid ...	ORPHA:2255
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegal...	OMIM:612541
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic in...	OMIM:620005
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Proptosis, Lower limb spasticity, Pulmonary arterial hypertension, Prolonged QT interval, Shallow...	OMIM:620029
Crouzon Syndrome	Proptosis, Hypertelorism, Shallow orbits, Dysgerminoma	OMIM:123500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Cardiomegaly, Abnormal atrioventricular valve morph...	ORPHA:324410
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Glomerulopathy, Hypochromic microcytic anemia, Congenita...	ORPHA:77297
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Keppen-Lubinsky Syndrome	Proptosis, Spastic tetraparesis, Opisthotonus, Shallow orbits, Hypertonia, Polyhydramnios, Flexio...	OMIM:614098
Donnai-Barrow Syndrome	Proptosis, Congenital diaphragmatic hernia, Ventricular septal defect, Hypertelorism, Diaphragmat...	OMIM:222448
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Liver Disease, Severe Congenital	Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ...	OMIM:619991
Wilson Disease	Hepatitis, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Cirrhosis, Thrombocyto...	ORPHA:905
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly, Nephroblastoma	OMIM:612918
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatitis, Myo...	ORPHA:37042
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement, Nephrocalcinosis	OMIM:614473
ERI1-related disease	Proptosis, Abnormal heart morphology, Tricuspid regurgitation, Ventricular septal defect, Pulmona...	OMIM:608739
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Carnitine Palmitoyltransferase I Deficiency	Ketonuria, Dicarboxylic aciduria, Renal tubular acidosis, Hepatic steatosis, Cardiomegaly, Hepato...	OMIM:255120
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocyt...	OMIM:618278
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Pancreatic lymphangiectasis, Ascites, Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Ventricul...	ORPHA:1655
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Hypertrophic cardiomyopathy, Myoclonus, Ragged-red muscle fibers, Tremor, Decrea...	OMIM:607426
Acrofrontofacionasal Dysostosis 2	Proptosis, Hypertelorism	OMIM:239710
Leprechaunism	Nephrocalcinosis, Long penis, Hypertrophic cardiomyopathy, Hypercalciuria, Enlarged ovaries, Hepa...	ORPHA:508
Koolen-De Vries Syndrome	Bicuspid aortic valve, Hypothyroidism, Cryptorchidism, Abnormal cardiac septum morphology	ORPHA:96169
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Proptosis, Cryptorchidism, Hypertelorism, Hypertension, Abnormality of the pancreas	ORPHA:1555
Craniosynostosis 4	Ectopic posterior pituitary, Proptosis, Hypertelorism	OMIM:600775
Chronic Granulomatous Disease	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Gaucher Disease, Perinatal Lethal	Ascites, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia	OMIM:608013
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Neuroblastoma	Hypertension, Elevated circulating catecholamine level, Increased circulating lactate dehydrogena...	ORPHA:635
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Embryonal rhabdomyosarcoma, Deeply set eye, Multinodular goiter	OMIM:620189
Microcephaly 3, Primary, Autosomal Recessive	Proptosis	OMIM:604804
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Ascites, Leukocytosis, Splenomegaly, Orchitis, Proteinuria, Perito...	ORPHA:342
Robinow Syndrome, Autosomal Recessive 2	Camptodactyly, Bicuspid aortic valve, Proptosis, Hypertelorism	OMIM:618529
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Proptosis	ORPHA:2522
Lateral Meningocele Syndrome	Proptosis, Hypertelorism, Cryptorchidism, Ventricular septal defect	ORPHA:2789
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Proptosis, Hemiplegia, Cerebral ischemia, Hyp...	ORPHA:900
Prader-Willi Syndrome Due To Translocation	Proptosis, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Olig...	ORPHA:177907
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98754
Marfanoid-Progeroid-Lipodystrophy Syndrome	Proptosis, Oligohydramnios, Mitral valve prolapse, Deeply set eye, Scapular winging, Hypertension	OMIM:616914
Neu-Laxova Syndrome 2	Polyhydramnios, Proptosis, Edema, Hypertelorism	OMIM:616038
Axenfeld-Rieger Syndrome, Type 3	Proptosis, Atrial septal defect, Hypertelorism	OMIM:602482
Myasthenia Gravis	Hepatitis, Primary adrenal insufficiency, Hashimoto thyroiditis, Myositis, Hyperthyroidism, Rayna...	ORPHA:589
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypogonadotropic hypogonadism, Abno...	OMIM:614381
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion	OMIM:239850
Premature Aging Syndrome, Penttinen Type	Proptosis, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Corneal ...	OMIM:601812
Alkaptonuria	Aortic valve stenosis, Aortic valve calcification, Abnormal heart valve morphology, Black pigment...	ORPHA:56
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Renal insufficiency, Eosinophilia, Lymphadenopathy, Neutropenia, Neutr...	ORPHA:293173
Bilateral Polymicrogyria	Central hypothyroidism, Pseudobulbar paralysis, Facial diplegia, Spastic hemiparesis, Abnormality...	ORPHA:268940
Spondyloenchondrodysplasia With Immune Dysregulation	Spasticity, Joint swelling, Progressive spastic quadriplegia, Hypothyroidism, Raynaud phenomenon,...	OMIM:607944
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
Melnick-Needles Syndrome	Proptosis, Abnormal cardiac septum morphology, Hypertelorism	ORPHA:2484
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventric...	ORPHA:31150
Dyskeratosis Congenita, Autosomal Dominant 2	Hepatic fibrosis, Dilated cardiomyopathy	OMIM:613989
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Leukopenia, Enlargement of parotid glan...	ORPHA:50918
Hypomandibular Faciocranial Dysostosis	Polyhydramnios, Proptosis, Atrial septal defect	ORPHA:1790
Chops Syndrome	Proptosis, Splenomegaly, Patent foramen ovale, Cryptorchidism, Ventricular septal defect, Hyperte...	OMIM:616368
Autoimmune Hepatitis	Viral hepatitis, Ascites, Splenomegaly, Sclerosing cholangitis, Cirrhosis, Glomerulonephritis, He...	ORPHA:2137
Periodic Fever, Familial, Autosomal Dominant	Cervical lymphadenopathy, Hepatomegaly, Hepatic amyloidosis	OMIM:142680
Glycogen Storage Disease Ii	Urinary incontinence, Hepatomegaly, Cardiomegaly, Splenomegaly	OMIM:232300
Holoprosencephaly 3	Central diabetes insipidus, Proptosis, Hypotelorism, Cyclopia	OMIM:142945
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:98793
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali...	OMIM:265300
Johanson-Blizzard Syndrome	Cryptorchidism, Ventricular septal defect, Elevated circulating alanine aminotransferase concentr...	OMIM:243800
Hsd10 Disease, Infantile Type	Abnormal concentration of acylcarnitine in the urine, Abnormality of the lower urinary tract, Car...	ORPHA:391428
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177904
Prader-Willi Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Decreased circulating gonadotrop...	ORPHA:739
Mucopolysaccharidosis Type 6	Abnormal heart valve morphology, Mucopolysacchariduria, Splenomegaly	ORPHA:583
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Premature adrenarche, Precocious puberty, Decreased circulating gonadotropin concentration, Centr...	ORPHA:177901
Developmental And Epileptic Encephalopathy 80	Proptosis, Elevated circulating alkaline phosphatase concentration, Hypertelorism	OMIM:618580
Pontocerebellar Hypoplasia, Type 10	Proptosis, Spasticity, Limb hypertonia, Cryptorchidism	OMIM:615803
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Proptosis, Elbow flexion contracture, Mitral valve prolapse, Deeply set eye, Distal lower limb mu...	ORPHA:508533
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis, Hyperinsulinemia, Flexion contracture, Insulin-resistant diabetes mellitus	OMIM:608612
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Otospondylomegaepiphyseal Dysplasia	Polyhydramnios, Proptosis	ORPHA:1427
Gray Platelet Syndrome	Splenomegaly, Abnormal number of alpha granules, Thrombocytopenia	OMIM:139090
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Autoimmune thrombocytopenia...	ORPHA:1572
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Hepatomegaly, Hypercalciuria, Polyuria, Anemia, P...	OMIM:239200
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Hepatic steatosis, Ventricular septal defect, Deeply set eye, Bicuspid aortic valve, ...	OMIM:619475
Cirrhotic Cardiomyopathy	Ascites, Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Cirrhosis, Jaundice...	ORPHA:57777
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Flexion contracture, Dilated cardiomyopathy, Delayed puberty, Skeletal muscle atrophy	ORPHA:89842
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Proptosis, Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Pat...	OMIM:245600
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri...	ORPHA:77261
X-Linked Intellectual Disability, Snyder Type	Involuntary movements, Abnormality of the Leydig cells, Proptosis, Decreased muscle mass, Myoclon...	ORPHA:3063
Fibrochondrogenesis 1	Joint contracture of the hand, Proptosis, Patent foramen ovale, Camptodactyly, Hydrops fetalis	OMIM:228520
Bohring-Opitz Syndrome	Cholelithiasis, Congenital contracture, Annular pancreas, Proptosis, Cardiomegaly, Abnormal cardi...	ORPHA:97297
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hypothyroidism, Atypical or prolonged hepatitis, Thyroiditis	ORPHA:83471
Proteus Syndrome	Long penis, Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Lymphangioma, Enlarged poly...	ORPHA:744
Primary Sclerosing Cholangitis	Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho...	ORPHA:171
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Mitral valve prolapse, Hepatomegaly, Rig...	OMIM:620233
Neuhauser Syndrome	Ataxia, Poor coordination, Hypertelorism, Primary hypothyroidism	OMIM:249310
Zygomycosis	Hematochezia, Gastrointestinal hemorrhage, Melena, Epistaxis, Hepatitis, Proptosis, Pleural effus...	ORPHA:73263
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Decreased respon...	ORPHA:3464
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cholangitis, Intrahe...	OMIM:607626
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Proptosis, Camptodactyly of finger	ORPHA:1323
Pycnodysostosis	Proptosis, Decreased response to growth hormone stimulation test, Hepatosplenomegaly, Decreased s...	ORPHA:763
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Spasticity, Proptosis, Tremor, Deeply set eye, Ataxia, Dystonia, Hypertelorism, Spastic diplegia	OMIM:300966
Multiple Endocrine Neoplasia, Type Iib	Elevated circulating calcitonin concentration, Pheochromocytoma, Myopathy, Medullary thyroid carc...	OMIM:162300
Sim1-Related Prader-Willi-Like Syndrome	Premature adrenarche, Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidi...	ORPHA:398079
Phace Syndrome	Abnormal heart morphology, Tetralogy of Fallot, Hemiplegia/hemiparesis, Hypothyroidism, Abnormal ...	ORPHA:42775
Prolidase Deficiency	Hepatomegaly, Proptosis, Splenomegaly, Hypertelorism	ORPHA:742
Gerstmann-Straussler Disease	Spasticity, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Pa...	OMIM:137440
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Bronchial Neuroendocrine Tumor	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, El...	ORPHA:97287
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
2Q31.1 Microdeletion Syndrome	Proptosis, Camptodactyly of finger, Cryptorchidism, Ventricular septal defect, Atrial septal defe...	ORPHA:251014
Holoprosencephaly-Postaxial Polydactyly Syndrome	Cryptorchidism, Hypotelorism, Adrenal hypoplasia, Abnormal cardiac septum morphology, Polyhydramn...	ORPHA:2166
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy	ORPHA:100082
Loeys-Dietz Syndrome 5	Proptosis, Decreased muscle mass, Mitral regurgitation, Patent foramen ovale, Ventricular septal ...	OMIM:615582
Antley-Bixler Syndrome	Proptosis, Hypertelorism, Camptodactyly of finger	ORPHA:83
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Torsion dystonia, Tremor, Torticollis	OMIM:224500
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Cardiomyopathy, Cholestasis, Renal tubular acidosis, Splenomeg...	ORPHA:264580
Restrictive Dermopathy 2	Proptosis	OMIM:619793
Shprintzen-Goldberg Syndrome	Proptosis, Camptodactyly of finger, Cryptorchidism, Abnormal aortic valve morphology, Mitral valv...	ORPHA:2462
Triosephosphate Isomerase Deficiency	Cholelithiasis, Spasticity, Skeletal muscle atrophy, Congestive heart failure, Oligohydramnios, C...	OMIM:615512
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hyperinsulinemia, Tremor, Pancreatic isl...	ORPHA:263455
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Proptosis	ORPHA:440354
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Muscular dystrophy, Ascites, Increased nuchal translucency, Hypothyroidism,...	ORPHA:1052
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Multinodular goiter	OMIM:618373
Alternating Hemiplegia Of Childhood	Cardiomyopathy, Tetraparesis, Episodic hemiplegia, Abnormal T-wave, Chorea, Cardiac conduction ab...	ORPHA:2131
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Ataxia, Dysmetria, Babi...	ORPHA:99027
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Aortic regurgitation, Decreased response to growth hormone stimulation tes...	ORPHA:268261
Marshall-Smith Syndrome	Proptosis, Hypertelorism	ORPHA:561
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Elbow flexion contracture, Oligohydramnios, Knee flexion contracture, Hy...	ORPHA:3206
Tuberous Sclerosis 1	Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-White ...	OMIM:191100
Spinocerebellar Ataxia-Dysmorphism Syndrome	Proptosis	ORPHA:1185
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Paraganglioma of head and neck, Hypertensive crisis, Elevated circula...	ORPHA:653
Robinow Syndrome, Autosomal Dominant 2	Camptodactyly, Proptosis, Cryptorchidism, Hypertelorism	OMIM:616331
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Proptosis, Cryptorchidism, Mitral valve prolapse, Shallow orbits, ...	OMIM:182212
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Orchitis, Peritoni...	OMIM:249100
Keppen-Lubinsky Syndrome	Proptosis, Spastic tetraparesis, Decreased testicular size, Opisthotonus, Shallow orbits, Hyperto...	ORPHA:435628
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,...	OMIM:611881
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa...	ORPHA:240071
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Micronod...	OMIM:251880
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Hydatidiform Mole	Hyperthyroidism	ORPHA:99927
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Cardiomegaly, Bicuspid aortic valve, Perimembranous ...	ORPHA:1457
Migraine, Familial Hemiplegic, 2	Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Cerebral edema	OMIM:602481
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Desbuquois Dysplasia 1	Proptosis	OMIM:251450
Wilson Disease	Acute hepatic failure, Limb muscle weakness, Limb dystonia, Hepatic steatosis, Cirrhosis, Elevate...	OMIM:277900
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Proptosis, Lymphedema, Hypogonadism, Abnormal heart valve morphology, Elbo...	ORPHA:536471
Serotonin Syndrome	Hypotension, Hepatic failure, Myoclonus, Rhabdomyolysis, Rigidity, Tremor, Clonus, Hyperhidrosis,...	ORPHA:43116
Acrocraniofacial Dysostosis	Proptosis, Hypertelorism	ORPHA:949
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Proptosis, Ectopic anterior pituitary gland, Ventricular septal defect, Atrial septal defect, Hyp...	OMIM:620558
Robinow Syndrome, Autosomal Dominant 3	Proptosis, Tricuspid regurgitation, Cryptorchidism, Patent foramen ovale, Ventricular septal defe...	OMIM:616894
Kniest Dysplasia	Proptosis, Hip contracture	OMIM:156550
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret...	ORPHA:288
Fucosidosis	Oligosacchariduria, Splenomegaly, Cardiomegaly, Hepatomegaly, Glycopeptiduria, Vacuolated lymphoc...	OMIM:230000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Camptodactyly, Flexion contracture, Proptosis, Atrial septal defect	OMIM:207410
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
22Q11.2 Deletion Syndrome	Hypertensive crisis, Cholelithiasis, Gastrointestinal hemorrhage, Tetralogy of Fallot, Polyhydram...	ORPHA:567
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small pituitary gland, Xerostomia, Central hypothyroidism, Hypogonadism, Abse...	ORPHA:398069
Pfeiffer Syndrome Type 1	Proptosis, Hypertelorism	ORPHA:93258
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Hennekam Syndrome	Horseshoe kidney, Lymphopenia, Ascites, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Cryptorchidism, V...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Supernumerary nipple, Abnormal heart morphology, Increased nuchal translucency, Cryptorchidism, V...	ORPHA:352665
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Prolonged neonatal jaundice, Hepatomegaly, B...	OMIM:257220
Dysostosis, Stanescu Type	Macroglossia, Proptosis, Hypertelorism	ORPHA:1798
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Hemiplegia, Abnormality of thyroid physiology, Transient ischemic attac...	ORPHA:1830
Hennekam-Beemer Syndrome	Hypotension, Proptosis, Camptodactyly of finger, Arrhythmia, Telangiectasia of the skin	ORPHA:2135
Baller-Gerold Syndrome	Proptosis, Hypotelorism, Abnormal cardiac septum morphology, Hypertelorism	ORPHA:1225
Cowden Syndrome	Ataxia, Follicular thyroid carcinoma, Goiter, Neoplasm of the thyroid gland, Abnormality of the t...	ORPHA:201
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Leukocytosis, Splenomegaly, Orchitis, Peritonitis, Abnormal myocardium morphology, Lymphadenopath...	ORPHA:32960
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Fasciculations, Cryptorchidism, Patent foramen ovale, Tremor, Limb hypertonia, Atrial septal defe...	OMIM:620327
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proptosis, Tricuspid regurgitation, Ventricular septal defect, Pulmonary arterial hypertension, A...	OMIM:620663
Distal Deletion 9P	Proptosis, Hypertelorism	ORPHA:1642
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ankle flexion contracture, Spasticity, Proptosis, Camptodactyly of finger, Cryptorchidism, Multip...	ORPHA:468631
Mandibuloacral Dysplasia With Type A Lipodystrophy	Proptosis, Insulin-resistant diabetes mellitus, Elbow flexion contracture, Hyperinsulinemia, Camp...	OMIM:248370
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ...	ORPHA:449432
Chromosome 1P36 Deletion Syndrome, Distal	Dilated cardiomyopathy, Camptodactyly of finger, Tetralogy of Fallot, Congenital hypothyroidism, ...	OMIM:607872
Graft Versus Host Disease	Hemophagocytosis, Hepatosplenomegaly, Lymphadenopathy, Chronic hepatitis, Acute hepatitis, Jaundice	ORPHA:39812
Acrodysostosis 1 With Or Without Hormone Resistance	Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ...	OMIM:101800
Fanconi Anemia	Proptosis, Hypogonadism, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Oligohydramnios, Abnor...	ORPHA:84
Apert Syndrome	Proptosis, Cryptorchidism, Ventricular septal defect, Overriding aorta, Shallow orbits, Hyperhidr...	OMIM:101200
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Spastic paraplegia, Proptosis, Hepatosplenomegaly, Mitral regurgitation, My...	ORPHA:309282
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Multicentric Osteolysis, Nodulosis, And Arthropathy	Ankle flexion contracture, Proptosis, Interphalangeal joint contracture of finger, Hip contractur...	OMIM:259600
Bardet-Biedl Syndrome	Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Skeletal m...	ORPHA:110
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Camurati-Engelmann Disease	Skeletal muscle atrophy, Proptosis, Hypogonadism, Hypertrophic cardiomyopathy, Splenomegaly, Dela...	ORPHA:1328
Immunodeficiency 31C	Skeletal muscle atrophy, Splenomegaly, Hypothyroidism, Delayed puberty, Hepatomegaly, Diabetes me...	OMIM:614162
Cole-Carpenter Syndrome 1	Proptosis, Shallow orbits	OMIM:112240
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Proptosis, Hypertelorism	OMIM:614800
Marshall Syndrome	Hypohidrosis, Proptosis, Hypertelorism	ORPHA:560
Brucellosis	Liver abscess, Intrarenal abscess, Leukopenia, Hypersplenism, Leukocytosis, Splenomegaly, Thrombo...	ORPHA:1304
Fetal Akinesia Deformation Sequence 1	Congenital contracture, Proptosis, Decreased muscle mass, Camptodactyly of finger, Elbow contract...	OMIM:208150
Ileal Neuroendocrine Tumor	Hydronephrosis, Iron deficiency anemia, Lymphadenopathy, Tricuspid stenosis, Extrahepatic cholest...	ORPHA:100078
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis, Delayed puberty, Calcinosis	ORPHA:90154
Congenital Myopathy 17	Proptosis, Myopathy, Distal arthrogryposis, Polyhydramnios, Diaphragmatic eventration	OMIM:618975
Apert Syndrome	Proptosis, Ovarian neoplasm, Hypertension, Hypertelorism	ORPHA:87
Joubert Syndrome With Hepatic Defect	Elevated circulating hepatic transaminase concentration, Portal hypertension, Splenomegaly, Tremo...	ORPHA:1454
Truncus Arteriosus	Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morphology, Ventricular sept...	ORPHA:3384
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Parotitis, Cholestasis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increas...	OMIM:620376
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red cell adenosine deaminase leve...	OMIM:102700
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, 3-Methylglutaconic aciduria, Increased hepatic glycogen content	OMIM:619259
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Type I diabetes mellitus, Hepatitis, Congestive heart failure, Hepatosplenomegaly, Patent foramen...	ORPHA:391487
14Q22Q23 Microdeletion Syndrome	Proptosis, Cryptorchidism, Adrenal hypoplasia, Anterior pituitary hypoplasia, Hypertelorism, Diab...	ORPHA:264200
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Semilobar Holoprosencephaly	Spasticity, Central hypothyroidism, Cyclopia, Decreased response to growth hormone stimulation te...	ORPHA:220386
Alobar Holoprosencephaly	Spasticity, Central hypothyroidism, Cyclopia, Decreased response to growth hormone stimulation te...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Central hypothyroidism, Cyclopia, Decreased response to growth hormone stimulation te...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Central hypothyroidism, Cyclopia, Decreased response to growth hormone stimulation te...	ORPHA:93924
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Flexion contracture, Proptosis	OMIM:215150
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Ventricular septal defect, C...	OMIM:301068
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Proptosis, Tricuspid regurgitation, Mitr...	OMIM:619127
Schinzel-Giedion Syndrome	Spasticity, Central hypothyroidism, Annular pancreas, Proptosis, Abnormal heart morphology, Strea...	ORPHA:798
Atrial Standstill 2	Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri...	OMIM:615745
Niemann-Pick Disease Type C	Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axial dystonia, Abnormal pyramidal sign, Ataxi...	ORPHA:646
Meier-Gorlin Syndrome 7	Second degree atrioventricular block, Proptosis, Breast aplasia, Complete atrioventricular canal ...	OMIM:617063
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Hand tremor	ORPHA:457212
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Orchitis, Hematuria, Pro...	ORPHA:556
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Wolf-Hirschhorn Syndrome	Proptosis, Abdominal situs inversus, Abnormal heart valve morphology, Abnormality of the gallblad...	ORPHA:280
Koolen-De Vries Syndrome Due To A Point Mutation	Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnorm...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Precocious puberty, Cardiomyopathy, Decreased response to growth hormone stimulation test, Abnorm...	ORPHA:363958
Fibrochondrogenesis	Proptosis, Hypertelorism, Camptodactyly of finger	ORPHA:2021
Xylt1-Cdg	Hepatomegaly, Proptosis	ORPHA:370930
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Scorpion Envenomation	Hemifacial spasm, Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Arrhythmia,...	ORPHA:466677
O'Sullivan-Mcleod Syndrome	Upper limb muscle weakness, Fasciculations, Hand muscle weakness, Tremor, Intrinsic hand muscle a...	ORPHA:99965
Sarcoidosis	Enlarged lacrimal glands, Hepatic failure, Chylothorax, Decreased liver function, Parotitis, Pleu...	ORPHA:797
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary valv...	ORPHA:3427
Tuberous Sclerosis 2	Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Hypothyroidism, Wolff-Parkinson-White ...	OMIM:613254
Primary Hepatic Neuroendocrine Carcinoma	Ascites, Chronic noninfectious lymphadenopathy, Hepatic cysts, Intermittent jaundice, Biliary tra...	ORPHA:100085
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Branchiootorenal Syndrome 1	Facial palsy, Euthyroid goiter	OMIM:113650
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Sinus tachycardia, Congestive heart failure, Cerebral hemorrhage, ...	ORPHA:276621
Microphthalmia With Linear Skin Defects Syndrome	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Congenital diaphrag...	ORPHA:2556
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Sweet Syndrome	Myositis, Dilated cardiomyopathy, Small vessel vasculitis	ORPHA:3243
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Heart Block, Congenital	Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria...	OMIM:234700
Marshall-Smith Syndrome	Proptosis, Bilateral cryptorchidism, Cryptorchidism, Ventricular septal defect, Premature ventric...	OMIM:602535
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Farber Disease	Hepatic fibrosis, Ascites, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahepatic ch...	ORPHA:333
Smith-Lemli-Opitz Syndrome	Proptosis, Atrioventricular canal defect, Abnormality of the gallbladder, Increased nuchal transl...	ORPHA:818
Mucopolysaccharidosis Type 3	Recurrent tonsillitis, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, A...	ORPHA:581
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Proptosis, Congestive heart failure, Decreased response to growth hormone stimulation test, Abnor...	ORPHA:444077
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Autoimmune hemolytic an...	OMIM:620565
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ...	ORPHA:167
Mandibuloacral Dysplasia With Type A Lipodystrophy	Breast aplasia, Flexion contracture, Proptosis	ORPHA:90153
Degcags Syndrome	Proptosis, Cholestasis, Hepatosplenomegaly, Cryptorchidism, Patent foramen ovale, Ventricular sep...	OMIM:619488
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Breast hypoplasia, Distal lower limb amyot...	ORPHA:506358
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Proptosis, Absent gallbladder, Cryptorchidism, Ventricular septal defect, Atrial septal defect, H...	ORPHA:163979
Carney Triad	Ascites, Pheochromocytoma, Lymphadenopathy, Anemia, Mediastinal lymphadenopathy	ORPHA:139411
Williams Syndrome	Spasticity, Type II diabetes mellitus, Cryptorchidism, Myopathy, Ventricular septal defect, Mitra...	ORPHA:904
Sclerosteosis 1	Facial palsy, Proptosis, Hypertelorism	OMIM:269500
Andersen Cardiodysrhythmic Periodic Paralysis	Prominent U wave, Periodic hypokalemic paresis, Prolonged QTc interval, Bidirectional ventricular...	OMIM:170390
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Elevated circul...	OMIM:256040
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Congenital hypothyroidism, Thyroid hypoplasia	ORPHA:521445
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Proptosis, Mitral valve prolapse, Ventricular septal defect, Paten...	OMIM:249420
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Neurodegeneration With Brain Iron Accumulation 4	Spasticity, Distal amyotrophy, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor ...	OMIM:614298
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
45,X/46,Xy Mixed Gonadal Dysgenesis	Ovarian serous cystadenoma, Bilateral cryptorchidism, Decreased serum testosterone concentration,...	ORPHA:1772
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly, Abnormal thymus morphology	ORPHA:2463
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Anhidrosis, Tremor, Rigidity, Babinski sign, Parkinsonism, Hypohidrosis,...	OMIM:146500
Rothmund-Thomson Syndrome Type 1	Facial edema, Hypogonadism, Cryptorchidism, Telangiectasia, Hypothyroidism, Calcinosis	ORPHA:221008
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hydroneph...	OMIM:617913
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Proptosis, Mitral regurgitation, Patent foramen ovale, Hypertelorism	ORPHA:457395
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, Involuntary movements, Increased circulating prolactin concentration, Abnorma...	ORPHA:438213
Raine Syndrome	Proptosis, Arthrogryposis multiplex congenita, Elevated circulating alkaline phosphatase concentr...	OMIM:259775
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Central hypothyroidism, Lower limb amyotrophy, Ataxia	OMIM:300912
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Oligohydramnios, Multiple joint contractures, Mitral valve prolapse, Torticollis	ORPHA:536467
Digeorge Syndrome	Cholelithiasis, Parathyroid hypoplasia, Tetralogy of Fallot, Hepatic steatosis, Ovarian cyst, Ven...	OMIM:188400
Neutral Lipid Storage Disease With Myopathy	Cardiomyopathy, Chronic pancreatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly	OMIM:610717
Autosomal Recessive Robinow Syndrome	Proptosis, Camptodactyly of finger, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Cry...	ORPHA:1507
Coffin-Siris Syndrome 12	Elevated circulating hepatic transaminase concentration, Tetralogy of Fallot, Cryptorchidism, Pat...	OMIM:619325
Kniest Dysplasia	Flexion contracture of finger, Proptosis	ORPHA:485
Atelosteogenesis, Type I	Polyhydramnios, Proptosis, Cryptorchidism, Hypertelorism	OMIM:108720
Alström Syndrome	Testicular fibrosis, Incoordination, Decreased circulating T4 concentration, Hyperinsulinemia, He...	ORPHA:64
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Rubinstein-Taybi Syndrome 1	Hypoplastic left heart, Accessory spleen, Poor coordination, Proptosis, Hepatic hemangioma, Bilat...	OMIM:180849
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Proptosis, Joint contracture	OMIM:615349
Cutis Marmorata Telangiectatica Congenita	Ascites, Hypothyroidism, Telangiectasia of the skin	ORPHA:1556
Cornelia De Lange Syndrome 1	Proptosis, Elbow flexion contracture, Congenital diaphragmatic hernia, Cryptorchidism, Ventricula...	OMIM:122470
Camurati-Engelmann Disease	Proptosis, Delayed puberty, Skeletal muscle atrophy	OMIM:131300
Robinow Syndrome	Proptosis, Decreased serum testosterone concentration, Abnormal heart morphology, Cryptorchidism,...	ORPHA:97360
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Ex...	OMIM:300972
Pfeiffer Syndrome Type 2	Proptosis, Hypertelorism	ORPHA:93259
Familial Thrombocytosis	Chronic myelogenous leukemia, Acute myeloid leukemia, Splenomegaly, Thrombocytosis	ORPHA:71493
Beare-Stevenson Cutis Gyrata Syndrome	Proptosis, Hypertension, Hypertelorism	OMIM:123790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa...	ORPHA:308552
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Distal amyotrophy, Chorea, Head tremor, Gait ataxia, Limb ataxia, Tremor, Conjunctival telangiect...	OMIM:606002
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Abnormal pulmonary valve cusp morphology, Iron deficiency anemia, Chronic noninfect...	ORPHA:100075
Yunis-Varon Syndrome	Proptosis, Cardiomyopathy, Tetralogy of Fallot, Increased nuchal translucency, Cryptorchidism, Re...	ORPHA:3472
Arboleda-Tham Syndrome	Secundum atrial septal defect, Proptosis, Lower limb hypertonia, Bilateral cryptorchidism, Upper ...	OMIM:616268
Saul-Wilson Syndrome	Proptosis	OMIM:618150
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormality of thyroid physiology, Hypotelorism, Atrial septal defect, Unilateral breast hypoplasia	OMIM:300968
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Premature adrenarche, Elevated circulating hepatic transaminase concentration, Central hypothyroi...	ORPHA:293987
Pfeiffer Syndrome Type 3	Proptosis, Hypertelorism	ORPHA:93260
Hallermann-Streiff Syndrome	Hypothyroidism, Cryptorchidism, Abdominal situs inversus, Congestive heart failure	ORPHA:2108
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Proptosis	ORPHA:85184
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Eosinophilia, Peritonit...	ORPHA:228123
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Cole-Carpenter Syndrome	Proptosis	ORPHA:2050
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Lower limb muscle weakness, Hemiplegia, Congenital hypothyroidism, Limb dystonia,...	OMIM:616973
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi...	ORPHA:199351
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Spasticity, Exocrine pancreatic insufficiency, Hypertrophic cardiomyopathy, Tremor, Babinski sign...	OMIM:616539
Orofaciodigital Syndrome Type 4	Proptosis, Camptodactyly of finger, Decreased testicular size, Oligohydramnios, Primary adrenal i...	ORPHA:2753
Neurooculorenal Syndrome	Ectopic posterior pituitary, Central hypothyroidism, Decreased circulating ACTH concentration, Te...	OMIM:620305
Behçet Disease	Renal insufficiency, Splenomegaly, Orchitis, Glomerulopathy, Abnormal myocardium morphology, Lymp...	ORPHA:117
Specc1L-Related Hypertelorism Syndrome	Proptosis, Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Arrhythmia, Atrial sep...	ORPHA:1519
Desbuquois Dysplasia 2	Proptosis	OMIM:615777
Microphthalmia, Syndromic 2	Aortic valve stenosis, Spastic paraparesis, Adrenal insufficiency, Cryptorchidism, Mitral valve p...	OMIM:300166
Campomelic Dysplasia	Proptosis, Hypertelorism	ORPHA:140
Roberts Syndrome	Proptosis, Cryptorchidism, Knee flexion contracture, Wrist flexion contracture, Progressive flexi...	ORPHA:3103
Juvenile Nephropathic Cystinosis	Hypothyroidism, Elevated alkaline phosphatase of bone origin, Hypovolemia	ORPHA:411634
White-Kernohan Syndrome	Hypothyroidism, Hypotelorism	OMIM:619426
Fontaine Progeroid Syndrome	Absent nipple, Proptosis, Abnormal heart morphology, Tricuspid regurgitation, Oligohydramnios, Cr...	OMIM:612289
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn...	OMIM:222700
Cherubism	Marcus Gunn pupil, Proptosis	OMIM:118400
Catel-Manzke Syndrome	Proptosis, Cryptorchidism, Ventricular septal defect, Overriding aorta, Dextrocardia, Hypertelori...	OMIM:616145
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Cutis Laxa, Autosomal Recessive, Type Ib	Proptosis, Tricuspid regurgitation, Oligohydramnios, Congenital diaphragmatic hernia, Hypoplasia ...	OMIM:614437
17Q11 Microdeletion Syndrome	Precocious puberty, Elevated circulating parathyroid hormone level, Proptosis, Abnormal heart mor...	ORPHA:97685
Osteoglophonic Dysplasia	Proptosis, Camptodactyly of finger, Cryptorchidism, Shallow orbits, Hypertelorism	OMIM:166250
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Intention tremor, Tremor, Conjuncti...	OMIM:208900
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Dehydration, Edema, Bradycardia	ORPHA:79404
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly, Cryptorchidism	OMIM:618143
Sarcoidosis, Susceptibility To, 1	Enlarged lacrimal glands, Pancytopenia, Pericardial effusion, Splenomegaly, Hypercalciuria, Gener...	OMIM:181000
Cantú Syndrome	Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology	ORPHA:1517
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Elevated circulating 17-hydroxyprogesterone concentration, Joint contracture of the hand, Decreas...	OMIM:201750
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:667
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Recurrent urinary tract infections, ...	ORPHA:331235
Pseudoaminopterin Syndrome	Proptosis, Cryptorchidism, Patent foramen ovale, Hypertelorism, Asplenia, Posterolateral diaphrag...	ORPHA:221120
Okamoto Syndrome	Aortic valve stenosis, Proptosis, Abnormal heart morphology, Oligohydramnios, Abnormal left ventr...	ORPHA:2729
Toriello-Lacassie-Droste Syndrome	Polyhydramnios, Proptosis	ORPHA:3339
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Clear cell renal cell carc...	ORPHA:90340
Lipodystrophy, Congenital Generalized, Type 2	Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Nephrolithiasis...	OMIM:269700
Neu-Laxova Syndrome 1	Generalized edema, Joint contracture of the hand, Proptosis, Cryptorchidism, Patent foramen ovale...	OMIM:256520
Wiedemann-Rautenstrauch Syndrome	Secundum atrial septal defect, Proptosis, Cryptorchidism, Hypotelorism, Deeply set eye, Hypoplasi...	OMIM:264090
Charge Syndrome	Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Secundum atrial septal defect, Decrease...	OMIM:214800
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Pollakisuria, Right ventricular hypertrophy	ORPHA:268
Rothmund-Thomson Syndrome, Type 3	Proptosis	OMIM:615789
Juvenile Xanthogranuloma	Proptosis, Hyphema	ORPHA:158000
Robinow Syndrome, Autosomal Recessive 1	Proptosis, Abnormal heart morphology, Cryptorchidism, Right ventricular outlet tract obstruction,...	OMIM:268310
Kosaki Overgrowth Syndrome	Proptosis	OMIM:616592
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Shoulder flexion contracture, Proptosis, Tetralogy of Fallot, Elbow flexion contracture, Muscular...	OMIM:210710
Porphyria, Congenital Erythropoietic	Cholelithiasis, Splenomegaly, Red urine, Hepatomegaly, Pink urine, Thrombocytopenia, Reduced eryt...	OMIM:263700
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hepatic sinusoidal dilatation, Splenic cyst, Cryptorchidism, Patent foramen ovale, Cardiomegaly, ...	OMIM:620371
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Hydrops fetalis, Proptosis	ORPHA:50945
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Parkinson Disease 20, Early-Onset	Involuntary movements, Leg muscle stiffness, Tremor, Rigidity, Dystonia, Parkinsonism, Bradykines...	OMIM:615530
Crimean-Congo Hemorrhagic Fever	Acute pancreatitis, Parotitis, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Splenomegaly, Cho...	ORPHA:99827
Kawasaki Disease	Sterile pyuria, Double outlet right ventricle with subpulmonary ventricular septal defect without...	ORPHA:2331
Meester-Loeys Syndrome	Proptosis, Mitral valve prolapse, Joint contracture, Hypertelorism, Camptodactyly	OMIM:300989
Lipodystrophy, Congenital Generalized, Type 1	Cardiomyopathy, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Nephrolithiasis, Cirrhosis, ...	OMIM:608594
Melnick-Needles Syndrome	Proptosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertension, Hype...	OMIM:309350
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Proptosis, Paraplegia, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, At...	OMIM:271640
Holoprosencephaly 2	Anterior pituitary agenesis, Proptosis, Hypotelorism, Adrenal hypoplasia, Single ventricle, Cyclo...	OMIM:157170
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Proptosis, Abnormal circulating osteocalcin level	ORPHA:93315
Gaucher Disease	Aortic valve calcification, Cirrhosis, Ataxia, Hepatomegaly, Cholelithiasis, Abnormal pericardium...	ORPHA:355
Viss Syndrome	Coronary sinus enlargement, Proptosis, Right ventricular hypertrophy, Mitral valve prolapse, Vent...	OMIM:619472
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Adrenal hypoplasia, Abnormal cardiac septum morphology, Single ventricle, Flexion contracture, Th...	OMIM:308050
Retinoblastoma	Pineoblastoma, Proptosis, Hyphema, Subretinal pigment epithelium hemorrhage, Vitreous hemorrhage,...	ORPHA:790
Williams-Beuren Syndrome	Poor coordination, Myxomatous mitral valve degeneration, Coronary artery stenosis, Incoordination...	OMIM:194050
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Proptosis, Gait ataxia, Shallow orbits, Hypertelorism, Facial hypotonia	ORPHA:457359
Cystinosis, Nephropathic	Male hypogonadism, Skeletal muscle atrophy, Exocrine pancreatic insufficiency, Splenomegaly, Myop...	OMIM:219800
Neurofibromatosis Type 1	Precocious puberty, Proptosis, Pheochromocytoma, Cryptorchidism, Delayed puberty, Carcinoid tumor...	ORPHA:636
Fibrous Dysplasia Of Bone	Precocious puberty in females, Increased circulating cortisol level, Thyroid carcinoma, Elevated ...	ORPHA:249
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Cryptorchidism, Hip contracture, Ventricular septal defect, Hepa...	OMIM:619503
Histiocytoid Cardiomyopathy	Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries, Hepatomegaly	ORPHA:137675
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Proptosis, Hypertelorism	ORPHA:2211
Neuroendocrine Neoplasm Of Appendix	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Hepatomegaly, Tricuspi...	ORPHA:100079
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Congenital hypothyroidism, Hypertelorism	OMIM:271510
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Proptosis, Congenital diaphragmatic hernia, Apical muscular ventricular s...	OMIM:301022
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Proptosis, Gait ataxia, Hypertelorism	OMIM:617011
Familial Idiopathic Dilatation Of The Right Atrium	Abnormality of the hepatic vasculature, Cardiomegaly, Hepatomegaly, Right atrial enlargement, Atr...	ORPHA:1677
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Maturity-onset diabetes of the young, Cerebral palsy, Tremor, Parkinsonism, Hy...	ORPHA:1578
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Parotitis, Chronic active hepatitis, Lymphopenia, Leukopeni...	ORPHA:289390
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Osteopetrosis, Autosomal Recessive 7	Hepatomegaly, Proptosis, Splenomegaly	OMIM:612301
Wolf-Hirschhorn Syndrome	Precocious puberty, Accessory spleen, Proptosis, Decreased muscle mass, Cryptorchidism, Ventricul...	OMIM:194190
Treacher-Collins Syndrome	Blepharospasm, Cryptorchidism, Hypoplasia of the thymus, Abnormality of the adrenal glands, Hyper...	ORPHA:861
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Flexion contracture, Dilated cardiomyopathy, Delayed puberty, Foot joint contracture	ORPHA:79408
Leptospirosis	Acute kidney injury, Hepatitis, Cellular urinary casts, Lymphadenopathy, Thrombocytopenia, Hepato...	ORPHA:509
Craniotubular Dysplasia, Ikegawa Type	Proptosis, Hypertelorism, Ventricular septal defect	OMIM:619727
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Cryptorchidism, Pa...	OMIM:300967
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Decreased muscle mass, Myopathy, Rigidity, Dystonia, Babinski sign, Pa...	OMIM:234200
Branchioskeletogenital Syndrome	Blepharochalasis, Proptosis, Absent nipple, Hypertelorism	ORPHA:1299
Autosomal Dominant Robinow Syndrome	Proptosis, Hypertelorism, Cryptorchidism, Camptodactyly of finger	ORPHA:3107
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Hepatomegaly, Splenomegaly	OMIM:612132
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Sinus venosus atrial s...	ORPHA:1478
Reynolds Syndrome	Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Hepatomegaly, Jaundice	OMIM:613471
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Atrial s...	ORPHA:95430
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Cardiomegaly, Cryptorchidism, Ventricular septal defect	ORPHA:96191
Pallister-Hall Syndrome	Precocious puberty, Secondary growth hormone deficiency, Hypopituitarism, Panhypopituitarism, Atr...	ORPHA:672
Igg4-Related Ophthalmic Disease	Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Pancreatitis, Lympha...	ORPHA:449563
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flexion contracture, Proptosis, Hypertelorism	OMIM:130070
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Follicular h...	OMIM:619381
Absence Of The Pulmonary Artery	Abnormal heart morphology, Tetralogy of Fallot, Patent foramen ovale, Truncus arteriosus, Cardiom...	ORPHA:980
Microcephalic osteodysplastic primordial dwarfism, type III	Proptosis, Knee flexion contracture, Hip contracture	OMIM:210730
Sotos Syndrome	Ankle flexion contracture, Poor coordination, Abnormal heart morphology, Cryptorchidism, Hip cont...	ORPHA:821
Primrose Syndrome	Distal amyotrophy, Skeletal muscle atrophy, Bilateral cryptorchidism, Cryptorchidism, Hip contrac...	OMIM:259050
Osteogenesis Imperfecta, Type Viii	Proptosis	OMIM:610915
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Horseshoe kidney, Hepatomegaly, Splenomegaly, Atrioventricular canal defect	OMIM:617088
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Lymphopenia, Abnormal lymphocyte morphology, Leukopenia, R...	ORPHA:99826
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Spasticity, Abnormal circulating calcium-phosphate regulating hormone concentration, Proptosis, C...	ORPHA:2636
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal heart valve morphology, Hypersplenism, Splenomegaly, Hepatomegaly, Neopl...	ORPHA:77293
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Proptosis, Mitral valve prolapse, Bicuspid aortic valve, Atrial se...	OMIM:609192
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ankle flexion contracture, Proptosis, Elbow flexion contracture, Cryptorchidism...	OMIM:268300
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Proptosis, Mitral valve prolapse, Patent foramen ovale, Bicuspid a...	OMIM:610168
Stickler Syndrome	Skeletal muscle atrophy, Proptosis, Hemiplegia/hemiparesis, Mitral valve prolapse, Arrhythmia, Hy...	ORPHA:828
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Proptosis	ORPHA:85199
Down Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Atrioventricular canal defect, Type II diabet...	ORPHA:870
Genitopatellar Syndrome	Cryptorchidism, Hip contracture, Ventricular septal defect, Knee flexion contracture, Hypothyroid...	OMIM:606170
Robinow Syndrome, Autosomal Dominant 1	Proptosis, Cryptorchidism, Hypertelorism, Right ventricular outlet tract obstruction, Macroglossia	OMIM:180700
Proboscis Lateralis	Proptosis, Cyclopia, Hypertelorism, Ventricular septal defect	ORPHA:141099
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Dehydration	ORPHA:411629
Peters Plus Syndrome	Hypoplastic left heart, Congenital hypothyroidism, Cryptorchidism, Abnormal cardiac septum morpho...	ORPHA:709
Doors Syndrome	Congenital hypothyroidism, Myoclonus, Adrenal hyperplasia, Double outlet right ventricle, Hyperte...	ORPHA:79500
Loeys-Dietz Syndrome 3	Aortic regurgitation, Ventricular hypertrophy, Proptosis, Mitral regurgitation, Mitral valve prol...	OMIM:613795
Ring Chromosome 13 Syndrome	Hypertelorism, Hypoplasia of the gallbladder, Primary hypothyroidism	ORPHA:96176
Glycogen Storage Disease Due To Acid Maltase Deficiency	Oligosacchariduria, Hypertrophic cardiomyopathy, Cardiomegaly, Left ventricular hypertrophy, Hepa...	ORPHA:365
Elsahy-Waters Syndrome	Proptosis, Hypertelorism, Bilateral cryptorchidism	OMIM:211380
African Trypanosomiasis	Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Hepatomegaly, Lymphadenopathy, Abnormal pr...	ORPHA:3385
Pallister-Killian Syndrome	Aortic valve stenosis, Proptosis, Camptodactyly of 2nd-5th fingers, Supernumerary nipple, Hypertr...	OMIM:601803
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Yunis-Varon Syndrome	Absent nipple, Proptosis, Cardiomyopathy, Tetralogy of Fallot, Cryptorchidism, Patent foramen ova...	OMIM:216340
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Cardiomegaly, Bicuspid aortic valve	ORPHA:91387
Wiedemann-Rautenstrauch Syndrome	Spasticity, Increased circulating prolactin concentration, Increased serum estradiol, Type II dia...	ORPHA:3455
Townes-Brocks Syndrome	Tetralogy of Fallot, Abnormal pulmonary valve morphology, Cryptorchidism, Hypothyroidism, Delayed...	ORPHA:857
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Nephrocalcinosis, Cortical nephrocalcinosis, Ascites, Medullary nephroca...	ORPHA:51608
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy	OMIM:226100
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Elbow flexion contracture, Proptosis, Knee flexion contracture, Hypertelorism	OMIM:271665
Townes-Brocks Syndrome 1	Tetralogy of Fallot, Cryptorchidism, Ventricular septal defect, Hypothyroidism, Atrial septal defect	OMIM:107480
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Microphthalmia, Syndromic 6	Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Hypothyroidism, Adrenal hypoplasi...	OMIM:607932
Vascular Ehlers-Danlos Syndrome	Proptosis, Abnormal heart valve morphology, Transient ischemic attack, Cryptorchidism, Mitral val...	ORPHA:286
Plague	Lymphadenitis, Splenomegaly, Hepatomegaly, Enlarged mesenteric lymph node, Endocarditis	ORPHA:707
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Increased urinary cortisol level, Lymphopenia, Pancreatic adenoca...	ORPHA:99889
Kabuki Syndrome 1	Congenital hypothyroidism, Cryptorchidism, Ventricular septal defect, Premature thelarche, Atrial...	OMIM:147920
Sponastrime Dysplasia	Precocious puberty, Hypothyroidism	ORPHA:93357
Osteogenesis Imperfecta, Type Vii	Proptosis	OMIM:610682
Craniosynostosis And Dental Anomalies	Proptosis, Hypertelorism	OMIM:614188
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Mitral valve calcification, Subv...	OMIM:182250
Gingival Fibromatosis-Hypertrichosis Syndrome	Ataxia	ORPHA:2026
Hypertrichosis, Congenital Generalized, 3, With Or Without Gingival Hyperplasia		OMIM:135400

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 Abca5

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 Abca5.

No publications found that use IMPC mice or data for Abca5.

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MGI Allele	Allele Type	Produced
Abca5^{tm127(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Abca5^{em1(IMPC)Ccpcz}	Exon Deletion	Mice
Abca5^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Abca5^{tm1a(EUCOMM)Wtsi}	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

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Gene: Abca5 MGI:2386607

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Abca5 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data