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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
enlarged thymus	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal thymus morphology	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 heart	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged spleen	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged kidney	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal kidney morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal spleen morphology	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
enlarged lymph nodes	Abca5^{em1(IMPC)Ccpcz}	HOM	Early adult
abnormal skin morphology	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 (1601 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, 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	Tremor, Cardiomyopathy, Myoclonus, Dystonia, Frequent falls, Hypothyroidism	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	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Thyroid Hormone Metabolism, Abnormal, 1	Increased circulating free T4 concentration, Elevated circulating thyroid-stimulating hormone con...	OMIM:609698
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Hepatorenocardiac Degenerative Fibrosis	Portal hypertension, Hypersplenism, Jaundice, Renal cyst, Hepatosplenomegaly, Tubular luminal dil...	OMIM:619902
Thyroid Hormone Metabolism, Abnormal, 3	Increased circulating free T4 concentration, Elevated circulating reverse T3 concentration, Incre...	OMIM:620198
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Fetal Cytomegalovirus Syndrome	Splenomegaly, Anemia, Hepatomegaly	ORPHA:294
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen...	OMIM:615285
Cardiomyopathy, Dilated, 1M	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:607482
Thyroid Dyshormonogenesis 2A	Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific...	OMIM:274500
Cardiomyopathy, Dilated, 2A	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:611880
Thyroid Dyshormonogenesis 3	Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter	OMIM:274700
Thyroid Dyshormonogenesis 6	Hypothyroidism, Congenital hypothyroidism	OMIM:607200
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Cardiomyopathy, Dilated, 1W	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila...	OMIM:613122
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Hyperthyroxinemia, Familial Dysalbuminemic	Euthyroid hyperthyroxinemia, Increased circulating free T4 concentration	OMIM:615999
Thyroid Dyshormonogenesis 5	Hypothyroidism, Goiter	OMIM:274900
Thyroid Dyshormonogenesis 4	Hypothyroidism, Goiter	OMIM:274800
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Thyroid Hormone Resistance, Generalized, Autosomal Dominant	Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ...	OMIM:188570
Pituitary Dwarfism With Large Sella Turcica	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:262710
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Cardiomyopathy, Dilated, 1Jj	Reduced left ventricular ejection fraction, Dilated cardiomyopathy	OMIM:615235
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ...	OMIM:613252
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Cardiomyopathy, Dilated, 1L	Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,...	OMIM:606685
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur...	OMIM:608099
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
Cardiomyopathy, Dilated, 1Ff	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy...	OMIM:613286
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c...	OMIM:613172
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ...	OMIM:302045
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism	Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:300123
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Elevated hepatic transaminase, Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, ...	OMIM:612937
Cardiomyopathy, Dilated, 1I	Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce...	OMIM:604765
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy	OMIM:613881
Thyroid Cancer, Nonmedullary, 1	Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter	OMIM:188550
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea...	OMIM:181350
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Cholestasis, Peripor...	OMIM:615382
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Pituitary Hormone Deficiency, Combined, 4	Hypothyroidism, Adrenal insufficiency, Impaired growth-hormone response to insulin stimulation test	OMIM:262700
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card...	OMIM:605362
Cardiomyopathy, Dilated, 1X	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,...	OMIM:611615
Dpm3-Cdg	Elevated hepatic transaminase, Dilated cardiomyopathy, Calf muscle hypertrophy, Muscular dystroph...	ORPHA:263494
Cardiomyopathy, Dilated, 1U	Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ...	OMIM:613694
Graves Disease, Susceptibility To, 1	Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest...	OMIM:275000
Thyroid Hormone Plasma Membrane Transport Defect	Euthyroid hyperthyroxinemia, Goiter	OMIM:188560
Deiodinase, iodothyronine, type I	Euthyroid hyperthyroxinemia, Goiter	OMIM:147892
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle...	OMIM:604286
Congenital Macroglossia	Macroglossia, Hypothyroidism, Abnormal hepatic glycogen storage	ORPHA:2430
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Cardiomyopathy, Dilated, 1Z	Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death	OMIM:611879
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim...	OMIM:274300
Fetal Iodine Deficiency Disorder	Congenital goiter, Congenital hypothyroidism	OMIM:228355
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Hyperthyroxinemia, Dystransthyretinemic	Euthyroid hyperthyroxinemia	OMIM:145680
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Resting tremor, Dystonia, Involuntary movements, Congestive heart failure, Chorea, Dilated cardio...	OMIM:606703
Hypothyroidism, Congenital, Nongoitrous, 5	Thyroid agenesis, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration,...	OMIM:225250
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Sensorineural Deafness With Dilated Cardiomyopathy	Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy	ORPHA:217622
Fetal Iodine Syndrome	Hemiplegia/hemiparesis, Hypothyroidism, 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	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con...	OMIM:600884
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid	OMIM:206400
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Dysdiadochokinesis, Distal lower limb m...	OMIM:619903
Familial Dyskinesia And Facial Myokymia	Resting tremor, Dystonia, Congestive heart failure, Chorea, Dilated cardiomyopathy, Myoclonus, Fa...	ORPHA:324588
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors	Euthyroid multinodular goiter, Papillary thyroid carcinoma	OMIM:138800
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,...	OMIM:160500
Tetralogy Of Fallot	Tetralogy of Fallot, Proptosis	OMIM:187500
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Combined Oxidative Phosphorylation Deficiency 16	Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino...	OMIM:615395
Pendred Syndrome	Compensated hypothyroidism, Thyroid carcinoma, Goiter	OMIM:274600
Cardiomyopathy, Dilated, 1Bb	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:612877
Hypothyroidism, Congenital, Nongoitrous, 1	Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi...	OMIM:275200
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Malformation of the hepatic ductal plate, Asplenia, Situs inver...	OMIM:615415
Hjv Or Hamp-Related Hemochromatosis	Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop...	ORPHA:79230
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat...	OMIM:611705
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde...	ORPHA:34515
Congenital Atransferrinemia	Hypothyroidism	ORPHA:1195
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Hypothyroidism, Effo...	ORPHA:3282
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart	ORPHA:3283
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargemen...	OMIM:619424
Cardiomyopathy, Dilated, 1V	Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul...	OMIM:613697
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Glutaric Aciduria Iii	Reduced peroxisomal glutaryl-CoA oxidase activity, Hypertension, Hyperthyroidism, Goiter	OMIM:231690
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr...	ORPHA:206546
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Splenomegaly, Endocardial fibrosis, Myeloproliferative disorder, Rest...	OMIM:607685
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dystonia, Ataxia, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Babinski...	OMIM:252011
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra...	OMIM:613239
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Myopathy, Myofibrillar, 1	Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri...	OMIM:601419
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc...	OMIM:300718
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Kerion Celsi	Lymphadenopathy	ORPHA:499
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Facial palsy, Polyhydramnios, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller ...	OMIM:300580
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Hepatomegaly, Portal hypertension, Malformation...	OMIM:208540
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Wolfram-Like Syndrome	Diabetes mellitus, Progressive cerebellar ataxia, Primary gonadal insufficiency, Delayed puberty,...	ORPHA:411590
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we...	ORPHA:171442
Hemochromatosis, Type 2A	Hepatomegaly, Hypogonadotropic hypogonadism, Congestive heart failure, Dilated cardiomyopathy, Ca...	OMIM:602390
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Neph...	ORPHA:100024
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli...	ORPHA:263297
Congenital Myopathy 2A, Typical, Autosomal Dominant	Facial palsy, Frequent falls, Polyhydramnios, Rigidity, Dilated cardiomyopathy, Limb muscle weakn...	OMIM:161800
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca...	ORPHA:206559
Thyrotropin-Releasing Hormone Deficiency	Hypothalamic hypothyroidism, Hypothyroidism	OMIM:275120
Cardiomyopathy, Dilated, 2B	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr...	OMIM:614672
Tetralogy Of Fallot	Cryptorchidism, Tetralogy of Fallot, Proptosis	ORPHA:3303
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu...	OMIM:255160
Thyroid Cancer, Nonmedullary, 4	Ovarian neoplasm, Papillary thyroid carcinoma, Goiter	OMIM:616534
Hypothyroidism, Central, With Testicular Enlargement	Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t...	OMIM:300888
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe...	OMIM:263200
Cardiomyopathy, Dilated, 2C	Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy	OMIM:618189
3-Methylglutaconic Aciduria, Type V	Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer...	OMIM:610198
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Abnorm...	ORPHA:85445
Testicular Anomalies With Or Without Congenital Heart Disease	Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology	OMIM:615542
Sandhoff Disease, Adult Form	Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d...	ORPHA:309169
Joubert Syndrome 26	Hypertelorism, Panhypopituitarism, Decreased response to growth hormone stimulation test, Central...	OMIM:616784
Ascher Syndrome	Hypertelorism, Hypothyroidism, Goiter	ORPHA:1253
Bardet-Biedl Syndrome 2	Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect	OMIM:615981
Rhabdomyosarcoma, Embryonal, 2	Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid nodule, Goiter	OMIM:180295
Proteasome-Associated Autoinflammatory Syndrome 5	Splenomegaly, Hepatomegaly	OMIM:619175
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter	OMIM:188580
Hypothyroidism, Congenital, Nongoitrous, 9	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301035
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn...	ORPHA:563
Congenital Heart Defects, Multiple Types, 5	Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao...	OMIM:617912
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Thyroid Dyshormonogenesis 1	Macroglossia, Hypothyroidism, Goiter	OMIM:274400
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Skeletal muscle atrophy, Reduced systolic function, Dilated cardiomyopathy, Macroglossia, Calf mu...	OMIM:616827
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Renal cortical adenoma, Pa...	ORPHA:97290
Goiter, Multinodular 2	Euthyroid multinodular goiter	OMIM:300273
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Lower limb spasticity, Diabetes mellitus, Supraventricular arrhythmia, Babinski sign, Abnormal py...	ORPHA:320360
Muscular Pseudohypertrophy-Hypothyroidism Syndrome	Jaundice, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Hypothyroidism	ORPHA:2349
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Elevated hepatic transaminase, Dilated cardiomyopathy	OMIM:619688
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity	OMIM:611105
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Familial Gestational Hyperthyroidism	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:99819
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Nonimmune hydrops fetalis, ...	ORPHA:367
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Lymphocytosis, Hepatomegaly	OMIM:606445
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Transient Neonatal Diabetes Mellitus	Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, De...	ORPHA:99886
Pediatric-Onset Graves Disease	Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ...	ORPHA:525731
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Ciliary Dyskinesia, Primary, 37	Situs inversus totalis, Hypothyroidism, Dextrocardia, Goiter	OMIM:617577
Immunodeficiency 16	Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia	OMIM:615593
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod...	ORPHA:90673
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy	OMIM:617018
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Anemia, Neutropenia	OMIM:602079
Thyrocerebroretinal Syndrome	Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Goiter	OMIM:274240
Combined Oxidative Phosphorylation Deficiency 23	Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia	OMIM:616198
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Abnormal lymph node morphology	ORPHA:33111
Thyrocerebrorenal Syndrome	Abnormality of the musculature of the limbs, Slurred speech, Euthyroid goiter, Myoclonus, Nonprog...	ORPHA:3327
Tyrosinemia Type 1	Splenomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Hepatomegaly	ORPHA:882
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu...	ORPHA:59135
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta...	OMIM:600649
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Allan-Herndon-Dudley Syndrome	Ataxia, Clonus, Flexion contracture, Elevated circulating thyroid-stimulating hormone concentrati...	OMIM:300523
Hypothyroidism, Congenital, Nongoitrous, 8	Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l...	OMIM:301033
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Cryptorchidism, Dilated cardiomyopathy, Flexion contracture, Hydrops fetalis, Bradycardia, Hypert...	OMIM:618815
Encephalopathy Due To Prosaposin Deficiency	Splenomegaly, Hepatomegaly	ORPHA:139406
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep...	ORPHA:424
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Dystonia 28	Torticollis, Generalized dystonia, Precocious puberty, Abnormal pyramidal sign, Leg dystonia, Arm...	ORPHA:589618
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Autosomal Dominant Progressive External Ophthalmoplegia	Edema, Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of ...	ORPHA:254892
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia	ORPHA:100025
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Reduced systolic function, Dilated cardiomyopathy, Elevated circulating alanine ami...	OMIM:618805
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro...	OMIM:133180
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Pulmonic stenosis, Dehydration	ORPHA:79159
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Prolonged neonata...	ORPHA:95715
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ...	OMIM:614561
Isolated Atp Synthase Deficiency	Hepatomegaly, Ataxia, Dilated cardiomyopathy, Spastic paraplegia, Tetraplegia, Hypogonadism, Arrh...	ORPHA:254913
Resistance To Thyrotropin-Releasing Hormone Syndrome	Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con...	ORPHA:99832
Cardiomyopathy, Familial Hypertrophic, 15	Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef...	OMIM:613255
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney...	OMIM:602088
Li-Campeau Syndrome	Ventricular septal defect, Hypertelorism, Patent foramen ovale, Cryptorchidism, Atrial septal def...	OMIM:619189
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Immunodeficiency 42	Splenomegaly, Hypoplasia of the thymus, Hepatomegaly	OMIM:616622
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Familial Papillary Or Follicular Thyroid Carcinoma	Nodular goiter, Papillary thyroid carcinoma, Follicular thyroid carcinoma, Goiter	ORPHA:319487
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro...	OMIM:603552
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hypertelorism	ORPHA:35099
Cardiomyopathy, Dilated, 1Oo	Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre...	OMIM:620247
Kaposiform Lymphangiomatosis	Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Pericardia...	ORPHA:464329
Blepharochalasis And Double Lip	Goiter	OMIM:109900
Spinocerebellar Ataxia Type 3	Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c...	ORPHA:98757
Spastic Paraparesis And Deafness	Tremor, Hypogonadism, Spastic paraparesis	OMIM:312910
Neonatal Severe Primary Hyperparathyroidism	Splenomegaly, Aminoaciduria, Hepatomegaly	ORPHA:417
Hyperbilirubinemia, Shunt, Primary	Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid...	OMIM:237800
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Congenital hypothyroidism, Cardiomegaly	ORPHA:88643
Rajab Interstitial Lung Disease With Brain Calcifications 2	Elevated hepatic transaminase, Hepatic steatosis, Decreased muscle mass, Hepatosplenomegaly, Deep...	OMIM:619013
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Galactosemia Iii	Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria	OMIM:230350
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Bamforth-Lazarus Syndrome	Thyroid agenesis, Polyhydramnios, Congenital hypothyroidism	OMIM:241850
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy...	ORPHA:603
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Splenomegaly, Fetal ascites, Hepatomegaly	OMIM:619462
Amyloidosis, Familial Visceral	Hepatomegaly, Proteinuria, Splenomegaly, Cholestasis, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachyc...	OMIM:614921
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Polycystic liver disease, Recurrent urinary tract infections, Hepatic cysts,...	ORPHA:730
Galactose Epimerase Deficiency	Splenomegaly, Jaundice, Aminoaciduria, Hepatomegaly	ORPHA:79238
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia	ORPHA:858
Hypothyroidism, Congenital, Nongoitrous, 6	Hypertelorism, Increased T3/T4 ratio, Congenital hypothyroidism, Macroglossia, Impaired sensitivi...	OMIM:614450
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Increased intramuscula...	ORPHA:276435
Precocious Puberty, Central, 1	Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti...	OMIM:176400
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop...	OMIM:607317
Thyroid Lymphoma	Hyperthyroidism, Hypothyroidism, Hashimoto thyroiditis, Goiter	ORPHA:97285
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis	OMIM:158580
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Developmental And Epileptic Encephalopathy 90	Babinski sign, Ankle clonus, Atrial septal defect, Hypothyroidism, Limb hypertonia	OMIM:301058
Brain-Lung-Thyroid Syndrome	Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormone concentration, Chore...	ORPHA:209905
Spinal Muscular Atrophy, Late-Onset, Finkel Type	Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations	OMIM:182980
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Edema, Hypertelorism, Cryptorchidism, Cholestasis, Perimembranous ventricular septa...	OMIM:608104
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Leukopenia, Hypertrophic cardiomyopath...	OMIM:617303
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Ataxia, Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Hypo...	ORPHA:3363
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Goiter	OMIM:600791
Meckel Syndrome, Type 8	Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613885
Genetic Transient Congenital Hypothyroidism	Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of...	ORPHA:226316
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatomegaly	OMIM:609016
Dk1-Cdg	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ...	ORPHA:91131
Myopathy, Distal, 4	Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the...	OMIM:614065
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multinodular goiter	ORPHA:2091
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,...	ORPHA:79319
Hypophosphatasia, Childhood	Myopathy, Proptosis, Low alkaline phosphatase	OMIM:241510
Athyreosis	Thyroid agenesis, Macroglossia, Hypothyroidism	ORPHA:95713
Dilated Cardiomyopathy With Ataxia	Prolonged QT interval, Elevated hepatic transaminase, Lower limb spasticity, Ataxia, Bilateral cr...	ORPHA:66634
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Autism Spectrum Disorder Due To Auts2 Deficiency	Cerebral palsy, Hypertelorism, Cryptorchidism, Abnormal heart morphology, Congenital contracture,...	ORPHA:352490
Danon Disease	Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila...	OMIM:300257
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail...	ORPHA:99901
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Intermittent jaundice, Reticulocytosis	OMIM:179700
Mitochondrial Dna Depletion Syndrome 11	Hypergonadotropic hypogonadism, Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, P...	OMIM:615084
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,...	OMIM:300842
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm...	OMIM:619375
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Igg4-Related Thyroid Disease	Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter...	ORPHA:64744
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect, Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentrat...	OMIM:620211
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Cardiomyopathy, Myoclonus, Dystonia	OMIM:619651
Hypothyroidism, Congenital, Nongoitrous, 4	Decreased thyroid-stimulating hormone level, Macroglossia, Hypothyroidism, Decreased circulating ...	OMIM:275100
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal...	OMIM:306955
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Macrog...	ORPHA:226313
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormal heart morphology, Abnormality of ex...	ORPHA:79262
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Crypt...	OMIM:615381
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:610293
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali...	ORPHA:543
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Nonimmune hydrops fetalis, Hypertelorism, Splenomegaly, Flexion contracture, Cardio...	OMIM:608540
Hypertriglyceridemia, Transient Infantile	Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly	OMIM:614480
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Combined Saposin Deficiency	Splenomegaly, Hepatomegaly	OMIM:611721
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Hypothyroidism, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures	Cryptorchidism, Chorea, Dystonia, Spasticity, Hypothyroidism	OMIM:613970
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ...	OMIM:231530
Cholestasis, Progressive Familial Intrahepatic, 12	Hepatomegaly, Proteinuria, Splenomegaly, Jaundice, Cholestasis	OMIM:620010
Bamforth-Lazarus Syndrome	Thyroid agenesis, Polyhydramnios, Congenital hypothyroidism	ORPHA:1226
Immunodeficiency 48	Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly	OMIM:269840
Retinal Dystrophy With Or Without Extraocular Anomalies	Goiter	OMIM:617175
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ataxia, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Slurred speec...	ORPHA:1349
Autosomal Dominant Dopa-Responsive Dystonia	Torticollis, Generalized dystonia, Progressive flexion contractures, Ataxia, Parkinsonism, Postur...	ORPHA:98808
Bangstad Syndrome	Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Deeply set eye, Incre...	ORPHA:1227
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Neutral Lipid Storage Disease With Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, C...	OMIM:610717
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P...	OMIM:115200
Meacham Syndrome	Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Partial anomalo...	OMIM:608978
Alstrom Syndrome	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo...	OMIM:203800
Infantile Sialic Acid Storage Disease	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Nephrotic syndrome, Ascites	OMIM:269920
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym...	OMIM:602450
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Pendred Syndrome	Hypothyroidism, Hyperparathyroidism, Thyroid carcinoma, Goiter	ORPHA:705
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Vocal cord paralysis, Atrioventricular block, Decreased cervical spine flexion due to contracture...	ORPHA:98853
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged kidney, ...	ORPHA:90301
Thyroid Hypoplasia	Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia	ORPHA:95720
Proximal Myopathy With Extrapyramidal Signs	Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Insuli...	ORPHA:401768
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal cardiac septum morphology, Proptosis	ORPHA:2370
Nabais Sa-De Vries Syndrome, Type 2	Polyhydramnios, Hypertelorism, Chorea, Hemiparesis, Deeply set eye, Hypoplastic left heart, Dysto...	OMIM:618829
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Ventricular escape rhythm, Sudden card...	ORPHA:98855
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Increased circulating T4 concentration, Hyperthyroid...	OMIM:603373
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Speech apraxia, Lower limb spasticity, Postural tremor, Rigidity, Oculomotor apraxia, Hand tremor...	ORPHA:412057
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Splenomegaly, Lymp...	OMIM:618495
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Proteinuria, Decreased glomerular filtration rate, Splenomegal...	OMIM:232220
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Hepatomegaly, Ataxia, Dilated cardiomyopathy, Spasticity, Hyperhidrosis, Abnormality of extrapyra...	OMIM:614299
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Ataxia, Dilated car...	OMIM:619167
Pontocerebellar Hypoplasia Type 10	Spasticity, Hypertonia, Proptosis	ORPHA:411493
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Hepatitis, Fulminant Viral, Susceptibility To	Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli...	OMIM:618549
Vascular Malformation, Primary Intraosseous	Elevated circulating alkaline phosphatase concentration, Proptosis, Diastasis recti	OMIM:606893
Developmental And Epileptic Encephalopathy 75	Hypertelorism, Cardiomyopathy, Proptosis, Decreased liver function, Prolonged neonatal jaundice	OMIM:618437
Cold Agglutinin Disease	Hepatomegaly, Abnormal urinary color, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Fragile X Tremor/Ataxia Syndrome	Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Gait ataxia, Bradykinesi...	OMIM:300623
Portal Hypertension, Noncirrhotic, 1	Splenomegaly, Portal hypertension, Hepatomegaly	OMIM:617068
Potocki-Shaffer Syndrome	Hypertension, Hypothyroidism, Delayed puberty	ORPHA:52022
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Jaundice, Cholestasis, Prolonge...	ORPHA:30391
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopat...	OMIM:617713
Sandhoff Disease	Splenomegaly, Hepatomegaly	ORPHA:796
Hawkinsinuria	Hypothyroidism	ORPHA:2118
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur...	OMIM:615959
Kleeblattschaedel	Proptosis	OMIM:148800
Pituitary Hormone Deficiency, Combined, 2	Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma...	OMIM:262600
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Tremor, Hypertrophic cardiomyopathy, Ataxia, Limb dystonia	OMIM:620270
Neuraminidase Deficiency	Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel...	OMIM:256550
Distal Nebulin Myopathy	Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m...	ORPHA:399103
Splenoportal Vascular Anomalies	Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites	OMIM:271500
Allan-Herndon-Dudley Syndrome	Skeletal muscle atrophy, Dystonia, Ataxia, Abnormality of thyroid physiology, Polyhydramnios, Cry...	ORPHA:59
Cherubism	Proptosis	ORPHA:184
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Hypergonadotropic hypogonadism, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Gener...	ORPHA:352447
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Elevated j...	ORPHA:465508
Hurler-Scheie Syndrome	Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Splenomegaly, Cardiomy...	ORPHA:93476
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Hemochromatosis, Type 2B	Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirrhosis, Anemia	OMIM:613313
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Bdv Syndrome	Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper...	OMIM:619326
Tyrosinemia, Type I	Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Hypertrophic cardiomyopathy, R...	OMIM:276700
Congenital Muscular Dystrophy, Fukuyama Type	Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Dilated cardiomyopathy, Flexion...	ORPHA:272
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy...	OMIM:607598
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Congestive heart failure, Microvesicular hepatic steatosis, Dilate...	OMIM:611126
14Q11.2 Microduplication Syndrome	Slurred speech, Hypothyroidism, Hypertelorism	ORPHA:261229
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Cardiac-Urogenital Syndrome	Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos...	OMIM:618280
Acrocephalopolydactylous Dysplasia	Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Cystic renal dysplasia...	OMIM:200995
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Spasticity, Proptosis	OMIM:618492
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Glycogen Storage Disease 0, Muscle	Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla...	OMIM:611556
Rothmund-Thomson Syndrome, Type 1	Male hypogonadism, Hypothyroidism	OMIM:618625
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Coproporphyria, Hereditary	Hepatomegaly, Splenomegaly, Jaundice, Increased urinary porphobilinogen, Elevated urinary delta-a...	OMIM:121300
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Aicardi-Goutieres Syndrome 9	Edema, Hypertonia, Hepatic fibrosis, Hepatic steatosis, Hypothyroidism, Hepatomegaly, Portal hype...	OMIM:619487
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Hepatic steatosis, Abnormal pyramidal sign, Spasticity, Opisthoton...	ORPHA:445038
Thyroid Hormone Resistance, Selective Pituitary	Impaired sensitivity to thyroid hormone, Hyperthyroidism, Elevated circulating thyroid-stimulatin...	OMIM:145650
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Nephroblastoma, Enlarged kidney	OMIM:618272
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Fasting hyperinsulin...	ORPHA:71212
Ghosal Hematodiaphyseal Dysplasia	Splenomegaly, Anemia	ORPHA:1802
Juvenile Nasopharyngeal Angiofibroma	Facial edema, Proptosis, Epistaxis	ORPHA:289596
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom...	OMIM:255310
4H Leukodystrophy	Dystonia, Hypogonadotropic hypogonadism, Abnormality of thyroid physiology, Decreased response to...	ORPHA:289494
Neonatal Lupus Erythematosus	Prolonged QT interval, Hepatomegaly, Elevated hepatic transaminase, Heart block, Dilated cardiomy...	ORPHA:398124
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity	OMIM:615768
B-Cell Expansion With Nfkb And T-Cell Anergy	Splenomegaly, Increased B cell count	OMIM:616452
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Diabetes mellitus, Hypertelorism, Flexion contracture, Oromotor apraxia, Abnormal heart morpholog...	ORPHA:391372
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated hepatic transaminase, Dystonia, Ataxia, Acute rhabdomyolysis, Premature thelarche, Cardi...	OMIM:616878
Anemia, Congenital Dyserythropoietic, Type Ii	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis	OMIM:224100
Bangstad Syndrome	Progressive cerebellar ataxia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency...	OMIM:210740
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Splenic infarcti...	OMIM:603903
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Hypergonadotropic hypogonadism, Telangiectasia of the skin, Dilated cardiomyopathy, Cardiomyopath...	OMIM:212112
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Cerebral vasculitis, Paralysis, Hypothyroidism, Hashimoto thyroiditis, Cerebral edema, Goiter	ORPHA:83601
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Intellectual Developmental Disorder, Autosomal Dominant 67	Hypothyroidism	OMIM:619927
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Hypertelorism, Hypothyroidism, Camptodactyly of finger, Delayed puberty	ORPHA:2994
Stiff Person Spectrum Disorder	Exaggerated startle response, Diabetes mellitus, Paraspinal muscle hypertrophy, Rigidity, Hyperhi...	ORPHA:3198
Lymphatic Malformation 6	Genital edema, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Splenomegaly, Polyhydr...	OMIM:616843
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Ataxia, Myocardial infarction,...	ORPHA:3452
Microcephaly 5, Primary, Autosomal Recessive	Proptosis	OMIM:608716
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h...	OMIM:252920
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity	OMIM:615924
Leukodystrophy, Hypomyelinating, 24	Flexion contracture, Hypothyroidism, Tongue fasciculations	OMIM:619851
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:610539
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Dominant Beta-Thalassemia	Hypoparathyroidism, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellular carcinoma, H...	ORPHA:231226
Pseudo-Torch Syndrome 3	Proteinuria, Cardiomegaly, Lymphadenitis, Leukocytosis, Acute kidney injury, Congenital thrombocy...	OMIM:618886
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Asplenia, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:614034
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte...	OMIM:150550
Maffucci Syndrome	Neoplasm of the adrenal cortex, Cerebral palsy, Neoplasm of the parathyroid gland, Pituitary aden...	ORPHA:163634
Spinocerebellar Ataxia, Autosomal Recessive 21	Skeletal muscle atrophy, Hepatomegaly, Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity...	OMIM:616719
Maternal Uniparental Disomy Of Chromosome 9	Congenital hypothyroidism, Hamstring contractures	ORPHA:96183
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A...	ORPHA:171445
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My...	ORPHA:732
Gm1-Gangliosidosis, Type I	Hepatomegaly, Abnormal heart valve morphology, Hypertelorism, Congestive heart failure, Splenomeg...	OMIM:230500
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
B4Galt1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Edema, Hypertelorism, Splenomegaly, Hypothyroidism	ORPHA:79332
Medullary Thyroid Carcinoma	Primary hyperparathyroidism, Hyperhidrosis, Abnormal liver parenchyma morphology, Pheochromocytom...	ORPHA:1332
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:613752
Machado-Joseph Disease	Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb atax...	OMIM:109150
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Glycogen Storage Disease Iii	Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Cardiomyopathy, Distal amyo...	OMIM:232400
Muscular Dystrophy, Duchenne Type	Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur...	OMIM:310200
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ...	OMIM:620300
Acetazolamide-Responsive Myotonia	Skeletal muscle hypertrophy, Hypertonia, Hypothyroidism	ORPHA:99736
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Adams-Oliver Syndrome 6	Ventricular septal defect, Portal hypertension, Splenomegaly, Renal hypoplasia, Hepatic fibrosis,...	OMIM:616589
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec...	OMIM:314390
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Anemia, Congenital Dyserythropoietic, Type Ib	Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund...	OMIM:615631
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bra...	ORPHA:521406
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Progressive Familial Intrahepatic Cholestasis	Splenomegaly, Jaundice, Cholestasis, Hepatomegaly	ORPHA:172
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kinetic tremor, Cryptorchidism, Gait ataxia, Hypotelorism, Truncal ataxia, Spasticity, Hypothyroi...	OMIM:616817
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol...	OMIM:612885
Anaplastic Thyroid Carcinoma	Vocal cord paralysis, Abnormal skeletal muscle morphology, Anaplastic thyroid carcinoma, Nodular ...	ORPHA:142
Congenital Bile Acid Synthesis Defect Type 1	Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ...	ORPHA:79301
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E...	OMIM:617201
Timothy Syndrome	Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent foramen ovale, Ventricular...	OMIM:601005
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Limb...	ORPHA:216873
Niemann-Pick Disease, Type B	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia	OMIM:607616
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Liver abscess, Abnormality of the kidney, Abnormality of the pancreas, Abnormality ...	ORPHA:54251
Wolcott-Rallison Syndrome	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neonatal insulin-dependent di...	ORPHA:1667
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti...	OMIM:602541
Wolfram Syndrome 1	Diabetes mellitus, Diabetes insipidus, Ataxia, Tremor, Cardiomyopathy, Hypothyroidism, Testicular...	OMIM:222300
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Spinocerebellar Ataxia 18	Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a...	OMIM:607458
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Abnormality of the urinary system, Hepatomegaly	ORPHA:2204
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Hepatomegaly, Hypergonadotropic h...	OMIM:212065
Mitochondrial Trifunctional Protein Deficiency 1	Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con...	OMIM:609015
Machado-Joseph Disease Type 1	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276238
Machado-Joseph Disease Type 2	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276241
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte...	ORPHA:77296
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Neurodevelopmental Disorder With Language Delay And Seizures	Hypothyroidism, Ventricular septal defect, Cryptorchidism	OMIM:619908
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist...	OMIM:300952
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy...	OMIM:608807
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly	OMIM:615010
Intellectual Developmental Disorder, Autosomal Dominant 26	Cerebral palsy, Hypertelorism, Hypertonia, Proptosis, Arthrogryposis multiplex congenita	OMIM:615834
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Beta-Thalassemia Major	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, Hepatocellula...	ORPHA:231214
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency	Hypothyroidism	OMIM:264300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,...	OMIM:619566
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Proptosis, Joint contracture	OMIM:617481
Fucosidosis	Hepatomegaly, Decreased muscle mass, Cardiomegaly, Abnormality of the gallbladder, Abnormal pyram...	ORPHA:349
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Hepatomegaly, Diabetes mellitus, Foot joint contracture, Facial palsy, Ataxia, Hyperechogenic pan...	ORPHA:456312
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
H Syndrome	Abnormality of the kidney, Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Micropenis, De...	ORPHA:168569
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Macroorchidism, Facial edema, Pituitary hypothyroidi...	ORPHA:90674
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis	OMIM:619658
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Abnormal...	ORPHA:505248
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Ddost-Cdg	Elevated hepatic transaminase, Tremor, Oromotor apraxia, Primary hypothyroidism, Hepatic steatosis	ORPHA:300536
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Andersen-Tawil Syndrome	Prolonged QT interval, Periodic hyperkalemic paralysis, Bidirectional ventricular ectopy, Periodi...	ORPHA:37553
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy...	OMIM:612999
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Cholelithiasis, Hepatocellular carcinoma, Hi...	ORPHA:231222
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Filippi Syndrome	Cryptorchidism, Proptosis, Ventricular septal defect, Dystonia	OMIM:272440
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio...	OMIM:613690
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Potocki-Lupski Syndrome	Atrial septal defect, Hypothyroidism, Patent foramen ovale, Hypertelorism	OMIM:610883
Gillessen-Kaesbach-Nishimura Syndrome	Polyhydramnios, Congenital diaphragmatic hernia, Hypertelorism, Flexion contracture, Abnormal hea...	OMIM:263210
Harderoporphyria	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome...	OMIM:618892
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i...	OMIM:608751
Atelis Syndrome 1	Atrial septal defect, Hypothyroidism, Hypertonia, Ventricular septal defect	OMIM:620184
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG, Lower limb spasticity, Diabetes mellitus, Abnormal pyramidal sign, Cardiomyopathy, ...	ORPHA:1177
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Ataxia With Vitamin E Deficiency	Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyra...	ORPHA:96
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Lymphoid Interstitial Pneumonia	Mediastinal lymphadenopathy, Enlarged kidney, Hepatomegaly	ORPHA:79128
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Melas	Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypothyroidism, Abnormal mitochondria i...	ORPHA:550
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ataxia, Cardiac arrest, Edema, S...	ORPHA:20
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula...	OMIM:616860
Intrahepatic Cholestasis Of Pregnancy	Elevated hepatic transaminase, Tremor, Abnormality of the pancreas, Jaundice, Abnormal pineal mel...	ORPHA:69665
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Ataxia, Poor motor coordination, Tremor, Hyperinsulinemia, Abnormal pyramidal sign,...	ORPHA:363400
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Aicardi-Goutieres Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Diabetes insipidus, Splenomegaly, Vasculit...	OMIM:225750
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Hepatic steatosis, Ventricular septal defect, Hypertelorism, Precocious pub...	ORPHA:254346
Thyroid Ectopia	Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Hypothyroidism	ORPHA:95712
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Methimazole Embryofetopathy	Abnormality of the thyroid gland, Hypothyroidism, Ventricular septal defect, Polyhydramnios	ORPHA:1923
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp...	ORPHA:90065
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Cholangitis, Portal hypertension, Thyroiditis, Hepatitis, Hepatosplenomega...	ORPHA:228426
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Achilles tendon contracture, Dilated cardiomyopathy, Abnormal left ventricular function, Macroglo...	OMIM:607155
Lethal Osteosclerotic Bone Dysplasia	Proptosis	ORPHA:1832
Cardiomyopathy, Familial Restrictive, 6	Hepatomegaly, Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive c...	OMIM:619433
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, ...	ORPHA:453533
Cowden Syndrome 5	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Intention tremor, ...	OMIM:615108
Cystinosis	Portal hypertension, Nephrogenic diabetes insipidus, Abnormal pyramidal sign, Dehydration, Myopat...	ORPHA:213
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 10	Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis	OMIM:619868
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Spherocytosis, Type 5	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count...	OMIM:612690
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Rhabdomyolysis, Dilated cardiomyopathy, Ankle flexion contracture	OMIM:618120
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Hemochromatosis, Type 1	Hepatomegaly, Cardiomegaly, Splenomegaly, Cardiomyopathy, Cirrhosis, Hepatocellular carcinoma, As...	OMIM:235200
Cardiomyopathy, Dilated, 2E	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function	OMIM:619492
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, G...	OMIM:618321
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Lymphedema, Hypohidrosis, Mitral valve prolapse, Hypothyroidism	ORPHA:1563
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Short Stature, Microcephaly, And Endocrine Dysfunction	Diabetes mellitus, Ataxia, Cryptorchidism, Dilated cardiomyopathy, Dysmetria, Hypotelorism, Deepl...	OMIM:616541
X-Linked Sideroblastic Anemia	Splenomegaly, Anemia	ORPHA:75563
Gaucher Disease Type 2	Splenomegaly, Hepatomegaly	ORPHA:77260
Hyperparathyroidism, Transient Neonatal	Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney	OMIM:618188
Ornithine Transcarbamylase Deficiency	Splenomegaly, Aminoaciduria	ORPHA:664
Frontoocular Syndrome	Atrial septal defect, Proptosis, Pulmonic stenosis, Hypotelorism	OMIM:605321
Mogs-Cdg	Hepatomegaly, Pulmonary edema, Edema, Cardiomegaly, Polyhydramnios, Hepatosplenomegaly, Hydrocele...	ORPHA:79330
Hemihyperplasia-Multiple Lipomatosis Syndrome	Abnormality of the lymphatic system, Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma...	ORPHA:276280
Attrv30M Amyloidosis	Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly	ORPHA:85447
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease	OMIM:214900
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Hepatomegaly, Ventricular se...	ORPHA:26793
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Proptosis	OMIM:616171
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Hypothyroidism, Hypohidrosis	ORPHA:1882
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitial am...	ORPHA:85450
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py...	ORPHA:766
Machado-Joseph Disease Type 3	Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si...	ORPHA:276244
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Mitral regurgitation, Hypothyroidism, Hypertelorism	OMIM:619750
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Crigler-Najjar Syndrome Type 1	Tremor, Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice	ORPHA:79234
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Hypertelorism, Congenital hypothyroidism	ORPHA:352530
Nephroblastoma	Hematuria, Neoplasm of the liver, Nephroblastoma, Lymphadenopathy	ORPHA:654
Barth Syndrome	Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur...	OMIM:302060
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Glycogen Storage Disease Ixb	Splenomegaly, Increased hepatic glycogen content, Hepatomegaly	OMIM:261750
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Splenomegaly, Anemia, Cardiomyopathy, Neutropenia, Pancreatiti...	ORPHA:79312
Alpha-Methylacyl-Coa Racemase Deficiency	Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Abnormality of the liver, Spasticity...	OMIM:614307
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Tricuspid regurgitation, Polyhydramnios, Centrally nucleated s...	OMIM:620351
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	Hypothyroidism, Hypogonadotropic hypogonadism, Cryptorchidism	ORPHA:752
Autosomal Dominant Optic Atrophy, Classic Form	Skeletal muscle atrophy, Scapular winging, Diabetes mellitus, Ataxia, Spastic paraplegia, Hemipar...	ORPHA:98673
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad...	OMIM:618935
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Edema, Pulmonary embolism, Budd-Chiari syndrome, Ascites, Hypothyroidism, Generaliz...	OMIM:226300
Malonyl-Coa Decarboxylase Deficiency	Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy	OMIM:248360
Chromosome 2Q37 Deletion Syndrome	Deeply set eye, Arrhythmia, Hypothyroidism, Subvalvular aortic stenosis	OMIM:600430
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Infantile Liver Failure Syndrome 2	Elevated hepatic transaminase, Acute hepatic failure, Jaundice, Cardiomyopathy, Prolonged prothro...	OMIM:616483
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Thyroid lymphangiectasia, Lymphedema, Cr...	OMIM:235255
9Q31.1Q31.3 Microdeletion Syndrome	Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension, T...	ORPHA:401923
Tsh-Secreting Pituitary Adenoma	Tremor, Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypog...	ORPHA:91347
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly...	OMIM:619644
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah...	OMIM:619849
Crouzon Syndrome With Acanthosis Nigricans	Proptosis, Hypertelorism	OMIM:612247
Cowden Syndrome 6	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Intention tremor, ...	OMIM:615109
Rhabdoid Tumor	Renal neoplasm, Lymphadenopathy, Anemia, Neoplasm of the liver, Hematuria, Thrombocytopenia	ORPHA:69077
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ...	OMIM:308240
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ...	ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iio	Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d...	OMIM:616828
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Abnormal liver lobulation, Cystic renal ...	OMIM:608022
Alpha-1-Antitrypsin Deficiency	Splenomegaly, Cirrhosis, Hepatocellular carcinoma	OMIM:613490
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Cryptorchidism, Pancreatic hyperplasia, Vesicoureteral reflux, Renal ...	OMIM:130650
Desmoplastic Small Round Cell Tumor	Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi...	ORPHA:83469
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Bile Acid Synthesis Defect, Congenital, 5	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi...	OMIM:616278
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Cryptorchidism, Proptosis, Pulmo...	OMIM:615102
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Ascites, Lymphadenopathy	ORPHA:26790
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Portal hypertension, Hypertelorism, Hepatitis, Proptosis, Camptodactyly, Type I dia...	OMIM:613385
Distal Xq28 Microduplication Syndrome	Predominantly lower limb lymphedema, Epistaxis, Patent foramen ovale, Upper eyelid edema, Deeply ...	ORPHA:293939
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Lower limb muscle weakn...	OMIM:600363
Osteopetrosis, Autosomal Dominant 3	Splenomegaly, Hyperparathyroidism, Anemia, Hepatomegaly	OMIM:618107
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk...	ORPHA:824
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B...	ORPHA:240103
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ...	ORPHA:251004
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Leukop...	OMIM:620210
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Ventricular septal defect, Eosinophilia, Splenomegaly...	OMIM:616651
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality...	ORPHA:98763
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism...	ORPHA:314632
Glycogen Storage Disease Iv	Skeletal muscle atrophy, Portal hypertension, Edema, Polyhydramnios, Hydrops fetalis, Hepatosplen...	OMIM:232500
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Proptosis	ORPHA:85172
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Castleman Disease	Renal insufficiency, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediast...	ORPHA:160
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Cholesteryl Ester Storage Disease	Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly	ORPHA:75234
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia	OMIM:610333
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Elevated hepatic transaminase, Hepatosplenomegaly, Hypogonadism, Adrenal insufficiency, Elevated ...	ORPHA:300298
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Hyperhidrosis, Dysdiadochokinesi...	OMIM:618049
Dystonia 12	Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia, Hypomimic face	OMIM:128235
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep...	ORPHA:363705
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ...	ORPHA:848
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Srd5A3-Cdg	Elevated hepatic transaminase, Hypothyroidism, Decreased response to growth hormone stimulation test	ORPHA:324737
Intellectual Disability-Strabismus Syndrome	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:363528
Monosomy 18P	Hypertension, Generalized dystonia, Hypothyroidism, Lymphedema	ORPHA:1598
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Proptosis, ...	OMIM:605013
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu...	OMIM:314050
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Frias Syndrome	Proptosis, Hypertelorism	OMIM:609640
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Hypertonia, Spasticity, Flexion contracture, Proptosis	OMIM:618346
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ra...	OMIM:607459
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad...	OMIM:213600
Ohdo Syndrome, Sbbys Variant	Cryptorchidism, Dilated cardiomyopathy, Hypothyroidism	OMIM:603736
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe...	OMIM:619473
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly	OMIM:615085
Lymphoproliferative Syndrome, X-Linked, 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis	OMIM:300635
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Sialidosis Type 2	Skeletal muscle atrophy, Hepatomegaly, Ataxia, Tremor, Splenomegaly, Flexion contracture, Hydrops...	ORPHA:87876
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hep...	ORPHA:73224
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis	ORPHA:2776
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Cryptorchidism, Proptosis, Hypertelorism	OMIM:618577
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Adrenal hypoplasia, Hypothyroidism, Cryptorchidism, Delayed puberty,...	ORPHA:95496
Klatskin Tumor	Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy	ORPHA:99978
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu...	ORPHA:381
Autoinflammation, Immune Dysregulation, And Eosinophilia	Eosinophilic liver infiltration, Hypothyroidism, Hepatic cysts, Hepatosplenomegaly	OMIM:618999
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Cardiomyopathy, Arrhythmia, Hepatomegaly	ORPHA:35
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ...	OMIM:617145
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Familial Atrial Myxoma	Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi...	ORPHA:615
Dehydrated Hereditary Stomatocytosis 2	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase...	OMIM:616689
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Congestive heart f...	ORPHA:2326
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev...	OMIM:171400
Galloway-Mowat Syndrome 6	Hypothyroidism, Decreased response to growth hormone stimulation test	OMIM:618347
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Nephrotic syndrome, Abno...	ORPHA:39041
Reni Syndrome	Ataxia, Edema, Cryptorchidism, Hypogonadism, Adrenal insufficiency, Hypothyroidism	OMIM:617575
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio...	OMIM:618052
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Hypothyroidism, Dystonia	OMIM:607906
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25...	OMIM:619802
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly	OMIM:612526
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypothyroidism, Elev...	OMIM:615486
Glycogen Storage Disease Ia	Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hepatocellular ca...	OMIM:232200
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Cardiomegaly	OMIM:300886
Congenital Pulmonary Lymphangiectasia	Hepatomegaly, Splenomegaly, Chylopericardium, Pulmonic stenosis, Ascites	ORPHA:2414
Autoimmune Polyendocrine Syndrome, Type Ii	Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic hepatitis, Type II di...	OMIM:269200
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Jaundice, Myocarditis, Hepatitis, E...	ORPHA:549
Scrub Typhus	Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:83317
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Glomerulopathy, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, ...	ORPHA:36412
Multicentric Carpotarsal Osteolysis Syndrome	Hypertension, Proptosis, Congenital diaphragmatic hernia	OMIM:166300
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Incoordination, Ataxia, Acute...	ORPHA:480864
Babesiosis	Hemolytic anemia, Hepatomegaly, Renal insufficiency, Splenomegaly, Jaundice, Leukopenia, Thromboc...	ORPHA:108
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Nodular regenerative hyperplasia of liver, Raynaud phenomenon, Punct...	ORPHA:247691
Stickler Syndrome Type 1	Proptosis, Mitral valve prolapse	ORPHA:90653
Immunodeficiency, Common Variable, 7	Splenomegaly, Recurrent urinary tract infections	OMIM:614699
Mevalonic Aciduria	Splenomegaly	ORPHA:29
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ...	ORPHA:276
Pontocerebellar Hypoplasia, Type 3	Spasticity, Proptosis	OMIM:608027
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i...	OMIM:615234
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end...	OMIM:620152
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor...	ORPHA:562
Cryohydrocytosis	Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis	OMIM:185020
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem...	ORPHA:329478
Donnai-Barrow Syndrome	Proptosis, Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism	ORPHA:2143
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypothyroidism	ORPHA:2491
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat...	OMIM:619463
Holoprosencephaly 11	Proptosis, Polysplenia, Hypotelorism	OMIM:614226
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flexion contracture, Proptosis, Thenar muscle atrophy	ORPHA:157965
Cowden Syndrome 1	Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,...	OMIM:158350
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N...	OMIM:235700
Optic Pathway Glioma	Precocious puberty, Proptosis	ORPHA:2086
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Ataxia-Telangiectasia	Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Telangiectasia of the ...	ORPHA:100
Cryoglobulinemic Vasculitis	Viral hepatitis, Hepatomegaly, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Me...	ORPHA:91138
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Type 2 muscle fiber predominance, Myoclonus	OMIM:619028
Carney Complex, Type 1	Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Congestive ...	OMIM:160980
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypertelorism, A...	OMIM:616263
Rhizomelic Limb Shortening With Dysmorphic Features	Proptosis, Patent foramen ovale	OMIM:618821
Beckwith-Wiedemann Syndrome	Hepatomegaly, Ureteral duplication, Nephroblastoma, Cardiomegaly, Splenomegaly, Cryptorchidism, A...	ORPHA:116
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Chronic active hepatitis, Female hypogonadism, Cholelithiasis, Decreased circ...	OMIM:240300
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Increased var...	OMIM:619790
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pi...	ORPHA:97289
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly	OMIM:231000
Alg9-Cdg	Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Ureteral hypoplasia, Pericard...	ORPHA:79328
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia	ORPHA:99931
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Decreased circulating cortisol level, Precocious puberty, Cryptorchidism, Abnormal circulating re...	OMIM:614736
Short Fifth Metacarpals-Insulin Resistance Syndrome	Splenomegaly, Spherocytosis	ORPHA:66518
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Hyperinsulinemia, Cholestasis, Ovarian cyst, Proptos...	OMIM:246200
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Recurrent urinary tract infections, Pure red cell aplasia, Autoimmun...	OMIM:613179
Developmental And Epileptic Encephalopathy 48	Proptosis, Limb hypertonia	OMIM:617276
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:612653
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Intellectual Developmental Disorder, Autosomal Dominant 52	Scapular winging, Hypertelorism, Bilateral cryptorchidism, Cryptorchidism, Deeply set eye, Hypoth...	OMIM:617796
Subcorneal Pustular Dermatosis	Hyperthyroidism, Hypothyroidism	ORPHA:48377
Aicardi-Goutieres Syndrome 7	Hepatic steatosis, Hepatomegaly, Lower limb spasticity, Spastic tetraparesis, Edema, Pericardial ...	OMIM:615846
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypertelorism, Diffu...	OMIM:170100
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro...	OMIM:602347
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism, Deeply set eye	OMIM:617763
Aggressive Systemic Mastocytosis	Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy...	ORPHA:98850
Acrocardiofacial Syndrome	Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Hypertelori...	ORPHA:2008
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis	ORPHA:59303
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Ritscher-Schinzel Syndrome 4	Ataxia, Hypertelorism, Cryptorchidism, Chorea, Hypotelorism, Athetosis, Deeply set eye, Proptosis	OMIM:619435
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib...	OMIM:613812
Thanatophoric Dysplasia	Atrial septal defect, Increased nuchal translucency, Proptosis, Polyhydramnios	ORPHA:2655
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Sclerosing Cholangitis, Neonatal	Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir...	OMIM:617394
Metaphyseal Chondrodysplasia, Jansen Type	Hypoparathyroidism, Hip contracture, Hypertelorism, Knee flexion contracture, Elevated circulatin...	OMIM:156400
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Hepatomegaly, Limb joint contracture, Shoulder flexion contrac...	OMIM:620369
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Decreased response to growth hormone stimulation test, Bilateral camptodactyly, Proptosis, Spasti...	OMIM:619234
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Felty Syndrome	Hepatomegaly, Pericarditis, Recurrent urinary tract infections, Splenomegaly, Thrombocytopenia, L...	ORPHA:47612
Thanatophoric Dysplasia Type 2	Atrial septal defect, Increased nuchal translucency, Proptosis, Polyhydramnios	ORPHA:93274
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Tremor, Flexion contracture, Ba...	OMIM:300055
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Nephroblastoma, Stage 5 chronic kidney disease, Nephrotic syndrome, ...	OMIM:194080
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Congestive heart failure, D...	OMIM:615895
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia	OMIM:618093
Spinocerebellar Ataxia With Epilepsy	Acute hepatic failure, Tremor, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, D...	ORPHA:254881
Glycogen Storage Disease Ixa1	Splenomegaly, Hepatomegaly	OMIM:306000
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis	OMIM:182900
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat...	OMIM:615630
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Torticollis, Precocious puberty, Jaundice, Ovarian neoplasm, Proptosis,...	ORPHA:370348
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc...	OMIM:605355
Myopathy, Myofibrillar, 4	Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ...	OMIM:609452
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Gallbladder Disease 1	Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ...	OMIM:600803
Tularemia	Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l...	ORPHA:3392
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Ventricular tachycardia, Syncope	OMIM:615821
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Thyroid a...	ORPHA:3047
Seckel Syndrome 7	Hypotelorism, Central hypothyroidism	OMIM:614851
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Ventricular septal defect, Decreased response to growth hormone stimulation test, Ataxia, Elevate...	OMIM:610978
Microform Holoprosencephaly	Cyclopia, Maternal diabetes, Panhypopituitarism, Hypotelorism, EMG: myopathic abnormalities, Tetr...	ORPHA:280200
Lig4 Syndrome	Cryptorchidism, Hypotelorism, Telangiectasia, Type II diabetes mellitus, Hypothyroidism	OMIM:606593
Roifman Syndrome	Noncompaction cardiomyopathy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis	OMIM:616649
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H...	ORPHA:158057
Immunodeficiency 87 And Autoimmunity	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hypertelorism, Jaund...	OMIM:619573
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Hyperhidrosis, Bradykinesia, Hypomimic face,...	ORPHA:70594
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple...	OMIM:613470
Elliptocytosis 1	Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis	OMIM:611804
Poems Syndrome	Diabetes mellitus, Edema, Pericardial effusion, Abnormality of the endocrine system, Primary adre...	ORPHA:2905
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B...	OMIM:615157
Ichthyosis, Congenital, Autosomal Recessive 4B	Rigidity, Proptosis	OMIM:242500
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Hypertrophic cardiomyopathy, Enl...	OMIM:252500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc...	OMIM:194380
Free Sialic Acid Storage Disease	Hepatomegaly, Proteinuria, Splenomegaly, Nephrotic syndrome, Ascites	ORPHA:834
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Immunodeficiency 102	Hepatomegaly, Hypothyroidism, Nodular regenerative hyperplasia of liver	OMIM:301082
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Ataxia, Paraparesis, Dehydration, Choreoathetosis, Cardiomyopathy, Tetraparesis, Pa...	ORPHA:27
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Diabetes mellitus, Hypotelorism, Spastic paraparesis, Hypothyroidism, Delayed puberty	ORPHA:391408
Pyruvate Kinase Deficiency Of Red Cells	Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina...	OMIM:266200
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B...	OMIM:606159
Myopathy With Extrapyramidal Signs	Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Clonus, Ataxia, Hypertelo...	OMIM:615673
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel...	OMIM:601847
Boutonneuse Fever	Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Thrombocytopenia	ORPHA:83313
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Jaundice, Anemia, Atrial septal defect, Th...	ORPHA:290
Adams-Oliver Syndrome 5	Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy, Pulmonic sten...	OMIM:616028
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Proteinuria, Chronic neutropenia, Hepatocellular adenoma, Enlarged kidney, Polycyst...	ORPHA:79259
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse	OMIM:145350
Hypermanganesemia With Dystonia 2	Generalized dystonia, Limb joint contracture, Parkinsonism, Dystonia, Tremor, Achilles tendon con...	OMIM:617013
Oculopharyngodistal Myopathy 1	Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Dilated cardio...	OMIM:164310
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Tremor, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperins...	ORPHA:276608
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Dilated cardiomyopathy, Ragged-red muscle fibers, Gait ataxia, Myoclonus, Increased variability i...	ORPHA:70595
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Hepatomegaly, Limb-girdle muscle weakness, Hypothyroidism, Rhabdomyolysis, Macroglossia, Spastici...	OMIM:251900
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Hypertension, Hypotension, ...	ORPHA:93256
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Vitamin K Antagonist Embryofetopathy	Macroglossia, Proptosis, Hypertelorism	ORPHA:1914
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Abnormal urinary color	ORPHA:90037
Galloway-Mowat Syndrome 7	Dilated cardiomyopathy, Ventricular septal defect, Edema	OMIM:618348
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Hepatoportal Sclerosis	Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port...	ORPHA:64743
Cowden Syndrome 7	Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter	OMIM:616858
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Decreased response to growth hormone stimulation test, C...	OMIM:602782
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Microvesicular hepatic steatosis, Cardiomyopat...	OMIM:212140
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Ataxia, Central hypothyroidism, Abn...	OMIM:616113
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
Pseudoxanthoma Elasticum	Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ...	ORPHA:758
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Exocrine pancreatic insuff...	OMIM:612714
Dural Sinus Malformation	Ataxia, Parkinsonism, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Poor c...	ORPHA:97339
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Hepatomegaly	OMIM:620296
Pearson Syndrome	Decreased response to growth hormone stimulation test, Hydrops fetalis, Dehydration, Abnormality ...	ORPHA:699
Ogden Syndrome	Torticollis, Ventricular septal defect, Cryptorchidism, Hypertonia, Proptosis, Cardiogenic shock,...	ORPHA:276432
Bile Acid Synthesis Defect, Congenital, 4	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate...	OMIM:214950
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis...	ORPHA:79456
Chitayat Syndrome	Proptosis, Polyhydramnios, Hypertelorism	OMIM:617180
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia	OMIM:611490
Mitochondrial Dna-Associated Leigh Syndrome	Hepatomegaly, Ataxia, Cardiac conduction abnormality, Chorea, Dilated cardiomyopathy, Ragged-red ...	ORPHA:255210
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Mulibrey Nanism	Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Nephroblastoma, Ascites	OMIM:253250
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Skeletal muscle atrophy, Increased circulating lactate dehydrogena...	OMIM:620138
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Nephrotic Syndrome, Type 1	Hypothyroidism, Edema	OMIM:256300
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Hepatomegaly, Ataxia, Epistaxis, Periorbital edema, Congestive heart...	ORPHA:33226
Jung Syndrome	Hypothyroidism	ORPHA:2321
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Alexander Disease	Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Clonus, Precocious puberty, Tremor...	ORPHA:58
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypertelorism, Proptosis, Hep...	ORPHA:73230
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Splenomegaly, Thrombocytopenia, Pericardi...	ORPHA:77259
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Houge-Janssens Syndrome 3	Atrial septal defect, Muscular ventricular septal defect, Proptosis, Hypertelorism	OMIM:618354
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Edema, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte h...	OMIM:605676
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Polyhydramnios, Supernumerary nipple, Hypertelorism, Cryptorchidism, Hypohidrosis, Deeply set eye...	ORPHA:1812
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Primary hypothyroidism	OMIM:225050
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Dysbetalipoproteinemia	Hepatic steatosis, Acute pancreatitis, Diabetes mellitus, Angina pectoris, Hepatomegaly, Tendon x...	ORPHA:412
Hypermanganesemia With Dystonia 1	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines...	OMIM:613280
Glutathionuria	Tremor, Dysdiadochokinesis, Hypotelorism, Action tremor	OMIM:231950
Erdheim-Chester Disease	Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Ataxia, Retroperitoneal fibrosis,...	ORPHA:35687
Wolman Disease	Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia	ORPHA:75233
Ventilator-Induced Diaphragmatic Dysfunction	Hypothyroidism, Diaphragmatic paralysis, Abnormality of the diaphragm	ORPHA:505395
Immunodeficiency 32B	Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs...	OMIM:226990
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Low Phospholipid-Associated Cholelithiasis	Elevated hepatic transaminase, Diabetes mellitus, Liver abscess, Cholangitis, Intrahepatic choles...	ORPHA:69663
Aceruloplasminemia	Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Dystonia, Tremor, Co...	ORPHA:48818
Mosaic Variegated Aneuploidy Syndrome 2	Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation...	OMIM:614114
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Proptosis, Hypertelorism	OMIM:618961
Diarrhea 10, Protein-Losing Enteropathy Type	Polyhydramnios, Pericardial effusion, Cryptorchidism, Elevated circulating thyroid-stimulating ho...	OMIM:618183
Localized Scleroderma	Skeletal muscle atrophy, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy, Deeply se...	ORPHA:90289
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Teebi Hypertelorism Syndrome 2	Proptosis, Hypertelorism	OMIM:619736
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Ataxia, Cardiomegaly, Congestive ...	ORPHA:14
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Exaggerated startle response, Flexion contracture, Dilated cardiomyopath...	OMIM:253800
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricular block, Mi...	ORPHA:371428
Pediatric Systemic Lupus Erythematosus	Dark urine, Lymphopenia, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy,...	ORPHA:93552
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia	ORPHA:85212
Wyburn-Mason Syndrome	Cerebral palsy, Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Hemiparesis, Proptosis	ORPHA:53719
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Hemoglobinuria, Poikilocytos...	OMIM:300908
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Hepatosplenomegaly, Delayed puberty, Type I diabetes mellitus, Hypothyroidism, Exocrine pancreati...	OMIM:615952
Adiposis Dolorosa	Telangiectasia of the skin, Hypothyroidism, Xerostomia	ORPHA:36397
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Raynaud phenomenon, Spl...	OMIM:615688
Telangiectasia, Hereditary Hemorrhagic, Type 5	Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia	OMIM:615506
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Steinert Myotonic Dystrophy	Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ...	ORPHA:273
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Thro...	OMIM:606003
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Bicuspid aortic valve, Hepatoblast...	ORPHA:84064
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Hyperthyroidism, Tremor, Increased variability in muscle fiber diameter, Dysmetria, Hypotelorism,...	ORPHA:502423
Attrv122I Amyloidosis	Cardiomegaly, Cardiac amyloidosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Res...	ORPHA:85451
Cerebrotendinous Xanthomatosis	Resting tremor, Dystonia, Ataxia, Parkinsonism, Paraparesis, Tendon xanthomatosis, Babinski sign,...	ORPHA:909
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Splenomegaly, Hepatomegaly	OMIM:618541
Familial Multinodular Goiter	Hyperthyroidism, Alveolar rhabdomyosarcoma, Multinodular goiter, Ovarian neoplasm, Thyroid carcin...	ORPHA:276399
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Proptosis, Camptodactyly of finger, Polyhydramnios	ORPHA:2774
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Distal lower limb amyotrophy, Incoordination, Hand muscle weakness, Tremor, Paraparesis, Achilles...	OMIM:302800
Combined Oxidative Phosphorylation Deficiency 3	Hepatomegaly, Ataxia, Tremor, Rhabdomyolysis, Dilated cardiomyopathy, Concentric hypertrophic car...	OMIM:610505
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Calf muscle hypertrophy, Fasciculations, Limb muscle weakness, Testicular atrophy	OMIM:313200
Mucopolysaccharidosis, Type Iiia	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252900
Lig4 Syndrome	Hepatomegaly, Telangiectasia of the skin, Cryptorchidism, Type II diabetes mellitus, Hypothyroidism	ORPHA:99812
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ...	OMIM:609053
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Splenomegaly, Macrocytic anemia, Cardiomyopathy	OMIM:619046
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Deeply set eye, Proptosis	OMIM:618707
Nephrotic Syndrome, Type 11	Dilated cardiomyopathy, Ventricular septal defect	OMIM:616730
Cenani-Lenz Syndrome	Proptosis, Hypothyroidism, Hypertelorism	ORPHA:3258
Coach Syndrome 1	Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Splenomegaly, Abnormal abdomen morp...	OMIM:216360
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Hypertelorism, Secundum atrial septal defect, Congestive heart failure, ...	OMIM:616866
Aicardi-Goutières Syndrome	Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes mellitus, Extrapyr...	ORPHA:51
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism	ORPHA:449291
Pseudohypoparathyroidism, Type Ic	Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate...	OMIM:612462
Thyrotoxic Periodic Paralysis	Tremor, Thyrotoxicosis with diffuse goiter, Hyperhidrosis, Impaired myocardial contractility, Res...	ORPHA:79102
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Abnormality of the ureter, Aminoaciduria, Oroticaciduria,...	ORPHA:30
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Proptosis, Hypertelorism	ORPHA:93262
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Eosinophilia, Myocarditis, Hepatitis, Lymphadenopathy, Tubulointerstitial ne...	ORPHA:139402
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly	OMIM:235555
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Edema, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy, Polymin...	OMIM:619574
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Muenke Syndrome	Proptosis, Hypertelorism	OMIM:602849
Glycogen Storage Disease Ixc	Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content	OMIM:613027
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p...	ORPHA:98902
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Cutis Laxa, Autosomal Recessive, Type Iie	Proptosis	OMIM:619451
Jackson-Weiss Syndrome	Proptosis, Hypertelorism	ORPHA:1540
Overhydrated Hereditary Stomatocytosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase...	OMIM:185000
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Multiple Endocrine Neoplasia Type 1	Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t...	ORPHA:652
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymph...	OMIM:304790
Myelofibrosis	Splenomegaly, Myeloproliferative disorder	OMIM:254450
Smith-Magenis Syndrome	Hypertelorism, Precocious puberty, Deeply set eye, Delayed puberty, Hypothyroidism	ORPHA:819
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Dystonia, Ataxia, Hypogonadotropic hypogonadism, Postural tremor, Tremor, Babinski sign, Dysmetri...	OMIM:607694
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Oculoskeletodental Syndrome	Hepatomegaly, Cryptorchidism, Splenomegaly, Elbow flexion contracture, Lacunar stroke, Macrogloss...	OMIM:618440
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ...	OMIM:612736
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Rhabdomyolysis, Hematochezia...	ORPHA:79095
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,...	OMIM:211600
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Decreased response to growth hormone stimulation test, Polyhydramnios, Hypothyroidism, Panhypopit...	OMIM:618922
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Skeletal muscle atrophy, Transient ischemic attack, Cholangitis, S...	ORPHA:3260
Ogden Syndrome	Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal def...	OMIM:300855
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Choreoacanthocytosis	Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Laryngeal dysto...	ORPHA:2388
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Bilateral cryptorchidism, Abnormality of the abdominal organs, H...	ORPHA:2409
Galloway-Mowat Syndrome 10	Myoclonus, Congenital hypothyroidism	OMIM:619609
Familial Infantile Myoclonic Epilepsy	Ataxia, Clumsiness, Blepharospasm, Proptosis, Limb myoclonus	ORPHA:352582
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas...	ORPHA:540
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Oliguria, Lymphocytosis, Hypoch...	ORPHA:514
Hyperphenylalaninemia, Bh4-Deficient, A	Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb...	OMIM:261640
Caffey Disease	Proptosis	ORPHA:1310
Marbach-Rustad Progeroid Syndrome	Ventricular septal hypertrophy, Right bundle branch block, Proptosis, Shallow orbits, Pulmonary i...	OMIM:619322
Endocrine-Cerebroosteodysplasia	Hypospadias, Cryptorchidism, Microphallus, Hyperechogenic kidneys, Enlarged kidney	OMIM:612651
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Appendicular spasticity, Hypertelorism, Proptosis, Apraxia, Oculomotor apraxia	OMIM:620250
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Tbck-Related Intellectual Disability Syndrome	Skeletal muscle atrophy, Hyperthyroidism, Ventricular septal defect, Diastasis recti, Decreased r...	ORPHA:488632
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Acquired Hypertrichosis Lanuginosa	Ovarian neoplasm, Lymphadenopathy	ORPHA:2221
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
20Q13.33 Microdeletion Syndrome	Facial hypotonia, Hypertelorism, Abnormal cardiac ventricle morphology, Hematochezia, Proptosis, ...	ORPHA:261311
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, A...	OMIM:300998
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Proptosis, Absent extraocular muscles, Hypertelorism	OMIM:109120
Farber Lipogranulomatosis	Splenomegaly, Lipogranulomatosis, Hepatomegaly	OMIM:228000
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Cryptorchidism...	ORPHA:2215
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Hypertelorism	ORPHA:2165
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Edema, Rigidity, Babinski sign, Abnormal pyramidal sign, Congenital...	OMIM:617527
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased response to growth hormone stimulation test, Myocardial infarction, Hypertelorism, Trem...	ORPHA:457240
Gaucher Disease, Type I	Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Aortic valve stenosis, Thrombocy...	OMIM:230800
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S...	OMIM:224120
Cholesteryl Ester Storage Disease	Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy...	OMIM:278000
Trisomy 12P	Proptosis, Supernumerary nipple, Hypertelorism	ORPHA:1699
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Congestive he...	ORPHA:1600
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Crouzon Syndrome	Proptosis, Hypertelorism	ORPHA:207
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia	OMIM:618398
Noonan Syndrome	Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal pulmonary valve morphology, Lymphedema, Hyp...	ORPHA:648
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Hypertelorism, Myocarditis, Co...	ORPHA:3342
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co...	ORPHA:79303
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hepatomegaly, Ventricular septal defect, Polyhydramnios, Hypertelorism, Abn...	OMIM:222470
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Ascites, Cardiomegaly	OMIM:614702
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Xerostomia, Thyroiditis, Enlar...	ORPHA:79078
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney	OMIM:613091
Cyclic Neutropenia	Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy...	ORPHA:2686
Aminopterin/Methotrexate Embryofetopathy	Ventricular septal defect, Hypertelorism, Situs inversus totalis, Proptosis, Tetralogy of Fallot	ORPHA:1908
Bohring-Opitz Syndrome	Ventricular septal defect, Supernumerary nipple, Polyhydramnios, Hypertelorism, Flexion contractu...	OMIM:605039
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Exercise-induced myoglobinuria, Hepatocellular...	OMIM:201475
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosi...	OMIM:617710
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Urinary incontinence, Hepatosplenomegaly	OMIM:268800
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Action tremor, Rigidi...	ORPHA:309854
Pseudohypoparathyroidism, Type Ia	Hypogonadism, Elevated circulating parathyroid hormone level, Hypothyroidism, Pseudohypoparathyro...	OMIM:103580
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Telangiectasia of the skin, Cryptorchidism, Hypothyroidism	ORPHA:85321
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Silver-Russell Syndrome Due To A Point Mutation	Cryptorchidism, Hypothyroidism, Oligohydramnios	ORPHA:397590
Bone Marrow Failure Syndrome 6	Hypothyroidism	OMIM:618849
Vici Syndrome	Hypertelorism, Congestive heart failure, Dilated cardiomyopathy, Hypotelorism, Cardiomyopathy, My...	OMIM:242840
Chromosome 5P13 Duplication Syndrome	Hypertelorism, Proptosis, Hypotelorism	OMIM:613174
Insulinoma	Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy...	ORPHA:97279
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Renal tubular acidosis, Hepatic steatosis	OMIM:255120
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Atria...	ORPHA:2519
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy...	ORPHA:86843
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto...	OMIM:607765
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Raynaud phenomenon, Chorea, Vasculitis, He...	ORPHA:1855
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Secondary Short Bowel Syndrome	Cholestasis, Dehydration, Primary hypothyroidism, Central hypothyroidism	ORPHA:95427
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Polyhydramnios, Hypertelorism, Splenomegaly, Macroglossi...	OMIM:618268
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor	OMIM:619738
Distal Deletion 10Q	Scapular winging, Ataxia, Clonus, Oculomotor apraxia, Hypotelorism, Poor fine motor coordination,...	ORPHA:96148
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hand muscle weakness, Fatty repla...	ORPHA:98908
Tangier Disease	Left ventricular hypertrophy, Splenomegaly, Hepatomegaly	OMIM:205400
3-Methylglutaconic Aciduria, Type Viib	Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Flexion contracture, Dehydration, Opist...	OMIM:616271
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis	OMIM:614078
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Ren...	OMIM:260920
Acrodysostosis 2 With Or Without Hormone Resistance	Cryptorchidism, Diabetes mellitus, Congenital hypothyroidism	OMIM:614613
Chromosome 1P36 Deletion Syndrome, Proximal	Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov...	OMIM:619343
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Megalocornea-Intellectual Disability Syndrome	Hypothyroidism, Ataxia, Hypertelorism	ORPHA:2479
Myopathy, Mitochondrial, And Ataxia	Hyperthyroidism, Ataxia, Tremor, Dysmetria, Limb ataxia, Distal amyotrophy, Dysdiadochokinesis, T...	OMIM:617675
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Nephrocalcinos...	OMIM:616084
Sarcoidosis, Susceptibility To, 2	Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly	OMIM:612387
Amyloidosis, Hereditary, Transthyretin-Related	Pulmonary edema, Ataxia, Cardiomegaly, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, ...	OMIM:105210
Neutrophilic Dermatosis, Acute Febrile	Small vessel vasculitis, Dilated cardiomyopathy	OMIM:608068
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Facial palsy, Clonus, Splenomegaly, Spastic tetraplegia, Hepatosplenomegaly, Ascite...	OMIM:259720
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Congenital hypothyroidism	OMIM:601427
Thanatophoric Dysplasia Type 1	Atrial septal defect, Increased nuchal translucency, Proptosis, Polyhydramnios	ORPHA:1860
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Atrial septal defect, Ventricular septal defect, Hypospadias, Supernumerary nipple,...	OMIM:312870
Lymphatic Filariasis	Proteinuria, Abnormality of the kidney, Glomerulonephritis, Orchitis, Lymphadenitis, Abnormality ...	ORPHA:2035
Shashi-Pena Syndrome	Atrial septal defect, Hypertelorism, Proptosis, Limb hypertonia	OMIM:617190
Hyperostosis Cranialis Interna	Proptosis, Facial palsy	OMIM:144755
Alpha-N-Acetylgalactosaminidase Deficiency	Oligosacchariduria, Cardiomegaly	ORPHA:3137
Rabson-Mendenhall Syndrome	Increased pineal volume, Enlarged ovaries, Ventricular septal defect, Precocious puberty, Insulin...	ORPHA:769
Lethal Congenital Contracture Syndrome 10	Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly	OMIM:617022
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Increased nuchal translucency, ...	ORPHA:453499
Biliary Atresia, Extrahepatic	Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres...	OMIM:210500
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Atrial septal defect, Joint contracture, Hypothyroidism, Polyhydramnios	OMIM:618005
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia	OMIM:617591
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Hepatic steatosis, Diabetes mellitus, Jaundice, Aplasia/Hypoplasia...	ORPHA:93111
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Angina pe...	ORPHA:565612
Essential Thrombocythemia	Splenomegaly, Abnormal platelet morphology, Acute leukemia	ORPHA:3318
Cardiofaciocutaneous Syndrome 1	Polyhydramnios, Hypertelorism, Splenomegaly, Oculomotor apraxia, Hyperhidrosis, Hypertonia, Propt...	OMIM:115150
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Cardiomegaly, Hepati...	ORPHA:42
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Dyssegmental Dysplasia, Silverman-Handmaker Type	Cryptorchidism, Flexion contracture, Hydrops fetalis, Abnormal heart morphology, Proptosis	ORPHA:1865
Hereditary Spherocytosis	Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri...	ORPHA:822
Budd-Chiari Syndrome	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,...	ORPHA:131
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Martin-Probst Syndrome	Hypertelorism, Cryptorchidism, Telangiectasia, Hypoplastic nipples, Hypothyroidism	OMIM:300519
Chromosome 1P35 Deletion Syndrome	Cryptorchidism, Hypertelorism, Ataxia, Congenital hypothyroidism	OMIM:617930
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re...	OMIM:146510
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Maternal Uniparental Disomy Of Chromosome 2	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Contractures of ...	ORPHA:96179
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal...	ORPHA:1333
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple...	OMIM:603553
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Diabetes mellitus, Portal hypertension, Pancreatic cysts, Splenomegaly, Elevated ci...	OMIM:610199
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt...	OMIM:267700
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertension	OMIM:208000
Helsmoortel-Van Der Aa Syndrome	Recurrent urinary tract infections, Decreased response to growth hormone stimulation test, Crypto...	OMIM:615873
Atelosteogenesis Type I	Proptosis, Abnormal pancreatic duct morphology, Polyhydramnios, Hypertelorism	ORPHA:1190
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen...	OMIM:610377
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Familial Adenomatous Polyposis	Cholangiocarcinoma, Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenom...	ORPHA:733
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Episodic hyperhidrosis, Congestive h...	ORPHA:94080
Bainbridge-Ropers Syndrome	Supernumerary nipple, Polyhydramnios, Precocious puberty, Cryptorchidism, Hypertelorism, Contract...	OMIM:615485
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fetali...	ORPHA:79282
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Ring Chromosome 12 Syndrome	Secundum atrial septal defect, Cryptorchidism, Hypothyroidism, Breast hypoplasia	ORPHA:1439
Neu-Laxova Syndrome	Skeletal muscle atrophy, Polyhydramnios, Hypertelorism, Flexion contracture, Opisthotonus, Propto...	ORPHA:2671
Mccune-Albright Syndrome	Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio...	OMIM:174800
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Red-brown urine, Hepatic ...	ORPHA:228308
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Proptosis, Ventricular septal defect	OMIM:617895
16Q24.3 Microdeletion Syndrome	Cryptorchidism, Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:261250
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hypertonia, Hypothyroidism, Spastic tetraplegia	OMIM:619147
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Hepatocellular carcinoma, Enteroviral hepatitis, Cor pulmonal...	OMIM:300755
Oculoectodermal Syndrome	Transient ischemic attack, Supernumerary nipple, Lymphedema, Pineal cyst, Proptosis, Atrial septa...	OMIM:600268
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
Immunodeficiency 60 And Autoimmunity	Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count	OMIM:618394
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Glomerulopathy, Splenomegaly, Polycystic ovaries, Hypertrophic cardiomyopathy, Hepa...	ORPHA:2348
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Familial Mediterranean Fever	Pericarditis, Proteinuria, Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Nephrocalcinosis...	ORPHA:342
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Multiple joint contractures, Generalized dystonia, Writer's cramp, Facial palsy, Tre...	OMIM:128100
Congenital Disorder Of Glycosylation, Type Iig	Hypertelorism, Cryptorchidism, Proptosis, Camptodactyly, Left ventricular hypertrophy	OMIM:611209
Muenke Syndrome	Proptosis, Hypertelorism	ORPHA:53271
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha...	OMIM:617300
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia, Tetraplegia	OMIM:610768
Infantile Liver Failure Syndrome 3	Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis	OMIM:618641
Mucopolysaccharidosis, Type Iiic	Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal hypertrophy, Hepatomegaly	OMIM:252930
Phace Association	Ventricular septal defect, Lingual thyroid, Congenital hypothyroidism	OMIM:606519
Isolated Exencephaly	Anterior pituitary hypoplasia, Polyhydramnios, Maternal diabetes, Proptosis, Posterior pituitary ...	ORPHA:563612
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell...	ORPHA:2255
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As...	OMIM:616897
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Facial palsy, Polyhydramnios, Hypertelorism, Patent foramen...	OMIM:620186
Liver Disease, Severe Congenital	Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Elevated hepatic iron conc...	OMIM:619991
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Lower limb spasticity, Flexion contracture, Shallow orbits, Proptosis, Cam...	OMIM:620029
Caroli Disease	Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ...	ORPHA:53035
Nestor-Guillermo Progeria Syndrome	Left atrial enlargement, Decreased serum leptin, Flexion contracture, Right bundle branch block, ...	OMIM:614008
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Muscular ventricular septal defect, Hypothyroidism, Intrinsic hand muscle atrophy, Spasticity	OMIM:618569
Wilson Disease	Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Hepatitis, Cirrhosis, Acute hepatitis, He...	ORPHA:905
Multiple Myeloma	Splenomegaly, Lymphadenopathy, Abnormality of the bladder, Nephrotic syndrome, Nephropathy, Acute...	ORPHA:29073
Cole-Carpenter Syndrome 2	Hypertelorism, Proptosis, Oligohydramnios	OMIM:616294
Refsum Disease, Classic	Cardiomyopathy, Abnormal renal physiology, Cardiomegaly	OMIM:266500
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Splenomegaly, Nephroblastoma, Renal hypoplasia	OMIM:612918
Leprechaunism	Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio...	ORPHA:508
Donnai-Barrow Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Hypertelorism, Proptosis, Diaphragmat...	OMIM:222448
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma...	ORPHA:288
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom...	ORPHA:31150
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Intermittent thrombocytopenia,...	OMIM:612541
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hematuria, Leukopenia, Neutropenia...	ORPHA:520
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
1P36 Deletion Syndrome	Hepatic steatosis, Abnormal heart valve morphology, Camptodactyly of finger, Cryptorchidism, Abno...	ORPHA:1606
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Microvesicular hepatic s...	OMIM:619418
Acrofrontofacionasal Dysostosis 2	Proptosis, Hypertelorism	OMIM:239710
20Q11.2 Microduplication Syndrome	Palpebral edema, Periorbital edema, Cryptorchidism, Proptosis, Lingual dystonia	ORPHA:363659
Wilson Disease	Acute hepatic failure, Edema, Hepatocellular carcinoma, Tremor, Hand tremor, Pedal edema, Limb dy...	OMIM:277900
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Decreased serum leptin, Polyhydramnios, Flexion contracture, Opisthotonus, ...	OMIM:614098
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Coenzyme Q10 Deficiency, Primary, 1	Hypergonadotropic hypogonadism, Ataxia, Tremor, Ragged-red muscle fibers, Myoclonus, Right hemipl...	OMIM:607426
Crouzon Syndrome	Hypertelorism, Proptosis, Dysgerminoma, Shallow orbits	OMIM:123500
Microcephaly 3, Primary, Autosomal Recessive	Proptosis	OMIM:604804
Arterial Calcification, Generalized, Of Infancy, 2	Nephrocalcinosis, Right atrial enlargement, Cardiomegaly	OMIM:614473
Neuhauser Syndrome	Poor coordination, Ataxia, Primary hypothyroidism, Hypertelorism	OMIM:249310
Apolipoprotein C-Ii Deficiency	Splenomegaly, Pancreatitis, Hepatomegaly	OMIM:207750
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Proptosis	ORPHA:2522
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Ascites, Anemia	OMIM:608013
Koolen-De Vries Syndrome	Hypothyroidism, Abnormal cardiac septum morphology, Bicuspid aortic valve, Cryptorchidism	ORPHA:96169
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidis...	ORPHA:1655
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Elevated hepatic transaminase, Portal hypertension, Patent foramen ovale, Cryptorchidism, Macrono...	OMIM:620005
Majeed Syndrome	Hepatomegaly, Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocyto...	ORPHA:77297
Scheie Syndrome	Splenomegaly, Mucopolysacchariduria, Hepatomegaly	ORPHA:93474
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased response to growth hormon...	ORPHA:177907
Marfanoid-Progeroid-Lipodystrophy Syndrome	Scapular winging, Mitral valve prolapse, Hypertension, Deeply set eye, Proptosis, Oligohydramnios	OMIM:616914
Neu-Laxova Syndrome 2	Polyhydramnios, Proptosis, Edema, Hypertelorism	OMIM:616038
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased T cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ...	ORPHA:324410
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Craniosynostosis 4	Ectopic posterior pituitary, Proptosis, Hypertelorism	OMIM:600775
Axenfeld-Rieger Syndrome, Type 3	Atrial septal defect, Proptosis, Hypertelorism	OMIM:602482
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Urinary incontinence, Cardiomegaly	OMIM:232300
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Myasthenia Gravis	Myositis, Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Hepatitis, Abnormal...	ORPHA:589
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Hypogonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, D...	OMIM:614381
Melnick-Needles Syndrome	Abnormal cardiac septum morphology, Proptosis, Hypertelorism	ORPHA:2484
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Myositis, Hyperthyroidism, Abnormality of the endocrine system, Th...	ORPHA:37042
Dyskeratosis Congenita, Autosomal Dominant 2	Dilated cardiomyopathy, Hepatic fibrosis	OMIM:613989
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Bilateral Polymicrogyria	Spastic tetraparesis, Spastic hemiparesis, Abnormal pyramidal sign, Central hypothyroidism, Abnor...	ORPHA:268940
Premature Aging Syndrome, Penttinen Type	Hypertelorism, Elevated circulating thyroid-stimulating hormone concentration, Hypotelorism, Corn...	OMIM:601812
Hyperparathyroidism, Neonatal Severe	Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism, Hypercalciu...	OMIM:239200
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy	ORPHA:379
Mucopolysaccharidosis Type 6	Splenomegaly, Mucopolysacchariduria, Abnormal heart valve morphology	ORPHA:583
Collagenoma, Familial Cutaneous	Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula...	OMIM:115250
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertelorism, Abnormality of the pancreas, Cryptorchidism, Hypertension, Proptosis	ORPHA:1555
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Autoimmune Hepatitis	Viral hepatitis, Acute hepatitis, Glomerulonephritis, Splenomegaly, Fulminant hepatitis, Jaundice...	ORPHA:2137
Acute Generalized Exanthematous Pustulosis	Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neut...	ORPHA:293173
Lateral Meningocele Syndrome	Cryptorchidism, Proptosis, Ventricular septal defect, Hypertelorism	ORPHA:2789
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Spastic diplegia, Progressive spastic quadriplegia, Joint swelling, Spasticit...	OMIM:607944
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98754
Developmental And Epileptic Encephalopathy 80	Elevated circulating alkaline phosphatase concentration, Proptosis, Hypertelorism	OMIM:618580
Hypomandibular Faciocranial Dysostosis	Atrial septal defect, Proptosis, Polyhydramnios	ORPHA:1790
Johanson-Blizzard Syndrome	Hepatic fibrosis, Atrial septal defect, Hypothyroidism, Hepatomegaly, Elevated circulating aspart...	OMIM:243800
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Deeply set eye, Multinodular goiter, Embryonal rhabdomyosarcoma	OMIM:620189
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Holoprosencephaly 3	Cyclopia, Central diabetes insipidus, Proptosis, Hypotelorism	OMIM:142945
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Mandibuloacral Dysplasia With Type B Lipodystrophy	Insulin-resistant diabetes mellitus, Flexion contracture, Hyperinsulinemia, Proptosis	OMIM:608612
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Polyhydramnios, Elbow flexion contracture, Opisthotonus, Mitral valve prolapse, Dee...	ORPHA:508533
Familial Tumoral Calcinosis	Nephrocalcinosis, Splenomegaly, Hepatomegaly	ORPHA:53715
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Abnormality of...	ORPHA:391428
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:98793
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules	OMIM:139090
Robinow Syndrome, Autosomal Recessive 2	Hypertelorism, Proptosis, Bicuspid aortic valve, Camptodactyly	OMIM:618529
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bicuspid aortic valve, Clonus, Deeply set eye, Hypertonia, Hepatic steatosis, Intention tremor, A...	OMIM:619475
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177904
Prader-Willi Syndrome	Diabetes mellitus, Decreased response to growth hormone stimulation test, Edema, Precocious puber...	ORPHA:739
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly	ORPHA:33577
Chops Syndrome	Ventricular septal defect, Hypertelorism, Splenomegaly, Cryptorchidism, Anomalous pulmonary venou...	OMIM:616368
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Abnormality of the lymphatic system, Chylopericardium, Ly...	ORPHA:538
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Mitral valve calcification, Abnormal heart valve morphology, Proteinu...	ORPHA:77261
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulatio...	ORPHA:177901
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Hypertelorism, Bilateral wrist flexion contracture, Congenital co...	ORPHA:97297
Fibrochondrogenesis 1	Hydrops fetalis, Proptosis, Camptodactyly, Joint contracture of the hand, Patent foramen ovale	OMIM:228520
Pontocerebellar Hypoplasia, Type 10	Cryptorchidism, Spasticity, Proptosis, Limb hypertonia	OMIM:615803
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Proptosis, Camptodactyly of finger	ORPHA:1323
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H...	OMIM:607626
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Ataxia, Hypertelorism, Tremor, Spastic diplegia, Deeply set eye, Proptosis, Dystonia, Spasticity	OMIM:300966
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ...	ORPHA:1572
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Delayed puberty	ORPHA:89842
T-Cell Immunodeficiency With Thymic Aplasia	Atypical or prolonged hepatitis, Hypothyroidism, Thyroiditis, Aplasia of the thymus	ORPHA:83471
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Hypertelorism, Elbow flexio...	OMIM:245600
Pycnodysostosis	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:763
Woodhouse-Sakati Syndrome	Streak ovary, Dystonia, Decreased response to growth hormone stimulation test, Insulin-resistant ...	ORPHA:3464
Tay-Sachs Disease	Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Dystonia, Lower limb muscl...	ORPHA:845
Prolidase Deficiency	Splenomegaly, Hepatomegaly, Proptosis, Hypertelorism	ORPHA:742
Multiple Endocrine Neoplasia, Type Iib	Myopathy, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasi...	OMIM:162300
Down Syndrome	Macroglossia, Hypothyroidism, Type II diabetes mellitus	ORPHA:870
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia...	OMIM:137440
Phace Syndrome	Hemiplegia/hemiparesis, Abnormal heart morphology, Abnormal cardiac septum morphology, Ectopic th...	ORPHA:42775
Otospondylomegaepiphyseal Dysplasia	Proptosis, Polyhydramnios	ORPHA:1427
X-Linked Intellectual Disability, Snyder Type	Decreased muscle mass, Involuntary movements, Hypertelorism, Cryptorchidism, Proptosis, Abnormali...	ORPHA:3063
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Hepatocellular adenoma, Cholestasi...	ORPHA:264580
Restrictive Dermopathy 2	Proptosis	OMIM:619793
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Antley-Bixler Syndrome	Proptosis, Camptodactyly of finger, Hypertelorism	ORPHA:83
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Depletion of m...	OMIM:251880
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,...	ORPHA:99027
Sim1-Related Prader-Willi-Like Syndrome	Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Xerostomia...	ORPHA:398079
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Tremor, Hyperinsulinemia, Hyperhidrosis...	ORPHA:263455
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	ORPHA:3261
Holoprosencephaly-Postaxial Polydactyly Syndrome	Adrenal hypoplasia, Polyhydramnios, Cryptorchidism, Hypotelorism, Abnormal cardiac septum morphol...	ORPHA:2166
Marshall-Smith Syndrome	Proptosis, Hypertelorism	ORPHA:561
2Q31.1 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Hypertelorism, Cryptorchidism, Proptosis, Atr...	ORPHA:251014
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr...	ORPHA:653
Fucosidosis	Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid...	OMIM:230000
Loeys-Dietz Syndrome 5	Scapular winging, Decreased muscle mass, Ventricular septal defect, Hypertelorism, Mitral regurgi...	OMIM:615582
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Diabetes mellitus, Epistaxis, Hematemesis, Myocarditis...	ORPHA:73263
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Conjunctival telangiectasia, Multinodular goiter	OMIM:618373
Spinocerebellar Ataxia-Dysmorphism Syndrome	Proptosis	ORPHA:1185
Triosephosphate Isomerase Deficiency	Skeletal muscle atrophy, Dystonia, Tremor, Congestive heart failure, Jaundice, Splenomegaly, Myop...	OMIM:615512
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Jaundice, Cirrhosis, Left ventricular hypert...	ORPHA:57777
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili...	ORPHA:397744
Tuberous Sclerosis 1	Wolff-Parkinson-White syndrome, Precocious puberty, Cardiac rhabdomyoma, Adenoma sebaceum, Hypoth...	OMIM:191100
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Rhabdomyosarcoma, Polyhydramnios, Increased nuchal translucency, Muscular d...	ORPHA:1052
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Stag...	OMIM:249100
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykinesia, Slowe...	ORPHA:240071
Stüve-Wiedemann Syndrome	Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Knee flexion contracture...	ORPHA:3206
Shprintzen-Goldberg Syndrome	Camptodactyly of finger, Hypertelorism, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall ...	ORPHA:2462
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Decreased r...	ORPHA:268261
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Insulin-resistant diabetes mellitus, Flexion contracture, Elbow flexion...	OMIM:248370
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Proptosis	ORPHA:440354
Alternating Hemiplegia Of Childhood	Facial hypotonia, Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemi...	ORPHA:2131
Desbuquois Dysplasia 1	Proptosis	OMIM:251450
Hydatidiform Mole	Hyperthyroidism	ORPHA:99927
Serotonin Syndrome	Tachycardia, Clonus, Tremor, Rigidity, Rhabdomyolysis, Hyperhidrosis, Hypertension, Hypertonia, M...	ORPHA:43116
Acrocraniofacial Dysostosis	Proptosis, Hypertelorism	ORPHA:949
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Hemoglobinuria, Normochromic anemia, Cho...	OMIM:611881
Primary Sclerosing Cholangitis	Acute hepatic failure, Spider hemangioma, Hepatic fibrosis, Generalized amyotrophy, Elevated alka...	ORPHA:171
Shprintzen-Goldberg Craniosynostosis Syndrome	Hypertelorism, Cryptorchidism, Mitral valve prolapse, Proptosis, Shallow orbits, Joint contractur...	OMIM:182212
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal right hemidiaphragm morphology, Multiple joint contractures, Abnormal heart valve morpho...	ORPHA:536471
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Migraine, Familial Hemiplegic, 2	Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Cerebral edema	OMIM:602481
Niemann-Pick Disease, Type C1	Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon...	OMIM:257220
Keppen-Lubinsky Syndrome	Spastic tetraparesis, Polyhydramnios, Flexion contracture, Opisthotonus, Hypertonia, Proptosis, S...	ORPHA:435628
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Proptosis, Delayed puberty	ORPHA:90154
Scleromyxedema	Transient ischemic attack, Abnormality of thyroid physiology, Raynaud phenomenon, Abnormal skelet...	ORPHA:167635
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Atrial septal defect, Flexion contracture, Proptosis, Camptodactyly	OMIM:207410
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Hennekam Syndrome	Lymphopenia, Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Hors...	ORPHA:2136
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Abnormal myocar...	ORPHA:32960
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Increased...	ORPHA:352665
Dysostosis, Stanescu Type	Macroglossia, Proptosis, Hypertelorism	ORPHA:1798
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Robinow Syndrome, Autosomal Dominant 3	Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Hypertelorism, Crypt...	OMIM:616894
Baller-Gerold Syndrome	Hypertelorism, Abnormal cardiac septum morphology, Proptosis, Hypotelorism	ORPHA:1225
Magel2-Related Prader-Willi-Like Syndrome	Premature pubarche, Precocious puberty, Cryptorchidism, Flexion contracture, Xerostomia, Absence ...	ORPHA:398069
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Proptosis, Hypotension, Arrhythmia	ORPHA:2135
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Mitral valve prolapse, Hila...	OMIM:620233
Kniest Dysplasia	Hip contracture, Proptosis	OMIM:156550
Hyperlipoproteinemia, Type I	Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly	OMIM:238600
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Jaundice, ...	ORPHA:567983
Pfeiffer Syndrome Type 1	Proptosis, Hypertelorism	ORPHA:93258
Cowden Syndrome	Ataxia, Follicular thyroid carcinoma, Abnormality of the thyroid gland, Enlarged polycystic ovari...	ORPHA:201
Graft Versus Host Disease	Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis	ORPHA:39812
Chromosome 1P36 Deletion Syndrome, Distal	Noncompaction cardiomyopathy, Bicuspid aortic valve, Camptodactyly of finger, Ventricular septal ...	OMIM:607872
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibros...	ORPHA:449432
Schimke Immuno-Osseous Dysplasia	Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hemipares...	ORPHA:1830
Camurati-Engelmann Disease	Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Splenomegaly, Proptosis, Hypogonadis...	ORPHA:1328
Distal Deletion 9P	Proptosis, Hypertelorism	ORPHA:1642
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Extrahepatic cholestasis, Lymphadenopathy, Iron deficiency anemia, Pulmonic s...	ORPHA:100078
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Facial hypotonia, Ataxia, Hypertelorism, Spastic paraplegia, Hepatosplenome...	ORPHA:309282
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Glomerulonephritis, Hypersplenism, Splenomegaly, Leuko...	ORPHA:1304
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Hypertel...	OMIM:259600
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Proptosis, Hypertelorism	OMIM:614800
Marshall Syndrome	Hypertelorism, Proptosis, Hypohidrosis	ORPHA:560
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Gastrointestinal hemorrhage, Hyperthyroidism, Ventricular septal defect, Abno...	ORPHA:567
Robinow Syndrome, Autosomal Dominant 2	Cryptorchidism, Proptosis, Hypertelorism, Camptodactyly	OMIM:616331
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal...	OMIM:301068
Apert Syndrome	Overriding aorta, Ventricular septal defect, Hypertelorism, Cryptorchidism, Hyperhidrosis, Propto...	OMIM:101200
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Cryptorchidism, ...	ORPHA:468631
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia	OMIM:153670
Acrodysostosis 1 With Or Without Hormone Resistance	Hypertelorism, Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Co...	OMIM:101800
Apert Syndrome	Hypertension, Proptosis, Hypertelorism, Ovarian neoplasm	ORPHA:87
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Hypertelorism, Cryptorchidism, Abnormality of the...	ORPHA:84
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,...	OMIM:619127
Congenital Myopathy 17	Polyhydramnios, Myopathy, Distal arthrogryposis, Proptosis, Diaphragmatic eventration	OMIM:618975
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa...	ORPHA:1454
Fetal Akinesia Deformation Sequence 1	Hip contracture, Decreased muscle mass, Elbow contracture, Camptodactyly of finger, Polyhydramnio...	OMIM:208150
Cole-Carpenter Syndrome 1	Proptosis, Shallow orbits	OMIM:112240
Down Syndrome	Ventricular septal defect, Complete atrioventricular canal defect, Hypothyroidism, Partial anomal...	OMIM:190685
Schinzel-Giedion Syndrome	Streak ovary, Hypertelorism, Vocal cord paralysis, Spasticity, Central hypothyroidism, Abnormal h...	ORPHA:798
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Flexion contracture, Proptosis	OMIM:215150
14Q22Q23 Microdeletion Syndrome	Anterior pituitary hypoplasia, Adrenal hypoplasia, Hypertelorism, Cryptorchidism, Proptosis, Abno...	ORPHA:264200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia,...	OMIM:102700
Immunodeficiency 31C	Hepatomegaly, Skeletal muscle atrophy, Diabetes mellitus, Splenomegaly, Delayed puberty, Hypothyr...	OMIM:614162
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly	OMIM:619259
Niemann-Pick Disease Type C	Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Abnormality of the liver...	ORPHA:646
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca...	OMIM:615745
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Abnormality of the endocrine system, Congestive heart failure, Thyroiditis, Renovascular hyperten...	ORPHA:391487
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Atr...	OMIM:620327
Semilobar Holoprosencephaly	Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula...	ORPHA:220386
Fibrochondrogenesis	Proptosis, Camptodactyly of finger, Hypertelorism	ORPHA:2021
Alobar Holoprosencephaly	Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula...	ORPHA:93926
Lobar Holoprosencephaly	Abnormal central motor function, Diabetes insipidus, Decreased response to growth hormone stimula...	ORPHA:93924
Xylt1-Cdg	Hepatomegaly, Proptosis	ORPHA:370930
Meier-Gorlin Syndrome 7	Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Cryptorchidism, S...	OMIM:617063
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Hypothyroidism, Hand tremor	ORPHA:457212
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Sitosterolemia 1	Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly...	OMIM:210250
Tuberous Sclerosis 2	Wolff-Parkinson-White syndrome, Precocious puberty, Cardiac rhabdomyoma, Adenoma sebaceum, Hypoth...	OMIM:613254
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Speech apraxia, Bicuspid aortic valve, Ventricular septal defect, Decreased ...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Speech apraxia, Bicuspid aortic valve, Ventricular septal defect, Decreased ...	ORPHA:363958
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom...	ORPHA:333
Hyperlipoproteinemia, Type Id	Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly	OMIM:615947
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Sarcoidosis	Hepatomegaly, Abnormal cardiac ventricular function, Hyperthyroidism, Diabetes insipidus, Facial ...	ORPHA:797
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Splenomegaly, Thrombocytopenia...	ORPHA:167
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Episo...	ORPHA:276621
Branchiootorenal Syndrome 1	Euthyroid goiter, Facial palsy	OMIM:113650
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Sweet Syndrome	Small vessel vasculitis, Myositis, Dilated cardiomyopathy	ORPHA:3243
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Scorpion Envenomation	Bundle branch block, Edema, Tremor, Hyperhidrosis, Prominent U wave, Hemifacial spasm, Ataxia, El...	ORPHA:466677
Mandibuloacral Dysplasia With Type A Lipodystrophy	Flexion contracture, Breast aplasia, Proptosis	ORPHA:90153
Wolf-Hirschhorn Syndrome	Abnormal heart valve morphology, Ataxia, Congenital diaphragmatic hernia, Hypertelorism, Cryptorc...	ORPHA:280
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Hepatic necrosis	ORPHA:100093
Malakoplakia	Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg...	ORPHA:556
Rothmund-Thomson Syndrome Type 1	Calcinosis, Facial edema, Cryptorchidism, Telangiectasia, Hypogonadism, Hypothyroidism	ORPHA:221008
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypothyroidism,...	ORPHA:444077
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Smith-Lemli-Opitz Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Hypertelorism, Crypto...	ORPHA:818
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia	ORPHA:139411
Sclerosteosis 1	Proptosis, Facial palsy, Hypertelorism	OMIM:269500
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Ventricular septal defect, Cryptorchidism, Heart murmur, Intracranial hemorrh...	ORPHA:163979
Frank-Ter Haar Syndrome	Ventricular septal defect, Hypertelorism, Secundum atrial septal defect, Mitral valve prolapse, P...	OMIM:249420
Neurodegeneration With Brain Iron Accumulation 4	Scapular winging, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyr...	OMIM:614298
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Marshall-Smith Syndrome	Ventricular septal defect, Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contra...	OMIM:602535
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Thyroid hypoplasia, Congenital hypothyroidism	ORPHA:521445
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Scapular winging, Hyperthyroidism, Bidirectional ventricular ectopy, Perio...	OMIM:170390
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Facial hypotonia, Decreased response to growth hormone stimulation ...	ORPHA:506358
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Camptodactyly of finger, Ca...	OMIM:256040
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydroneph...	OMIM:617913
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Mitral regurgitation, Proptosis, Patent foramen ovale, Hypertelorism	ORPHA:457395
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr...	ORPHA:581
Degcags Syndrome	Hepatomegaly, Tachycardia, Ventricular septal defect, Polyhydramnios, Hypertelorism, Cryptorchidi...	OMIM:619488
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid regurgitation, Congenital diaphragmatic hernia, Dilated cardiomyopathy, Mitral valve pr...	ORPHA:2556
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Tremor, Periorbital edema, Dysmetria,...	ORPHA:904
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Unilateral cryptorchidis...	ORPHA:1772
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Cardiomegaly	ORPHA:2463
Camurati-Engelmann Disease	Skeletal muscle atrophy, Proptosis, Delayed puberty	OMIM:131300
Raine Syndrome	Arthrogryposis multiplex congenita, Elevated circulating alkaline phosphatase concentration, Prop...	OMIM:259775
Intellectual Developmental Disorder, X-Linked 98	Lower limb spasticity, Lower limb amyotrophy, Ataxia, Central hypothyroidism	OMIM:300912
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Multiple joint contractures, Mitral valve prolapse, Proptosis, Oligohydramnios	ORPHA:536467
Multiple System Atrophy 1, Susceptibility To	Skeletal muscle atrophy, Orthostatic hypotension, Anhidrosis, Ataxia, Parkinsonism, Tremor, Rigid...	OMIM:146500
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Leukocytosis, Cervical l...	ORPHA:2331
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Ascites, Hypothyroidism	ORPHA:1556
Coffin-Siris Syndrome 12	Elevated hepatic transaminase, Facial palsy, Hypertelorism, Patent foramen ovale, Cryptorchidism,...	OMIM:619325
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Joint contracture, Proptosis	OMIM:615349
Rubinstein-Taybi Syndrome 1	Accessory spleen, Incoordination, Ventricular septal defect, Premature thelarche, Polyhydramnios,...	OMIM:180849
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Exaggerated startle response, Bicuspid aortic valve, Ventricular septal defect, Involuntary movem...	ORPHA:438213
Autosomal Recessive Robinow Syndrome	Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Hypertel...	ORPHA:1507
Cornelia De Lange Syndrome 1	Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Elbow flexion contrac...	OMIM:122470
Robinow Syndrome	Ventricular septal defect, Hypertelorism, Cryptorchidism, Abnormal heart morphology, Proptosis, P...	ORPHA:97360
Immunodeficiency 47	Accessory spleen, Normocytic anemia, Hepatomegaly, Splenomegaly, Cholestasis, Leukopenia, Hepatic...	OMIM:300972
Atelosteogenesis, Type I	Cryptorchidism, Proptosis, Polyhydramnios, Hypertelorism	OMIM:108720
Alström Syndrome	Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h...	ORPHA:64
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Thrombocytosis, Chronic myelogenous leukemia	ORPHA:71493
Digeorge Syndrome	Hepatic steatosis, Ventricular septal defect, Parathyroid agenesis, Decreased circulating parathy...	OMIM:188400
Beare-Stevenson Cutis Gyrata Syndrome	Hypertension, Proptosis, Hypertelorism	OMIM:123790
Pfeiffer Syndrome Type 2	Proptosis, Hypertelorism	ORPHA:93259
Kniest Dysplasia	Flexion contracture of finger, Proptosis	ORPHA:485
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:308552
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Conjunctival telangiectasia, Tremor, Chorea, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, D...	OMIM:606002
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ...	ORPHA:158048
Saul-Wilson Syndrome	Proptosis	OMIM:618150
Arboleda-Tham Syndrome	Ventricular septal defect, Secundum atrial septal defect, Bilateral cryptorchidism, Upper limb am...	OMIM:616268
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Atrial septal defect, Unilateral breast hypoplasia, Abnormality of thyroid physiology, Hypotelorism	OMIM:300968
Yunis-Varon Syndrome	Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hypertelorism, Cryptorchidism, Increased...	ORPHA:3472
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Proptosis	ORPHA:85184
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Pfeiffer Syndrome Type 3	Proptosis, Hypertelorism	ORPHA:93260
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication...	ORPHA:199351
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Decreased response to growth hormone stimulation test, Central dia...	ORPHA:293987
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Cole-Carpenter Syndrome	Proptosis	ORPHA:2050
Coccidioidomycosis	Pericarditis, Renal insufficiency, Eosinophilia, Abnormality of the kidney, Abnormality of the sp...	ORPHA:228123
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Tremor, Babinski sign, Spasticity, Hypertonia, Cirrhosis, Hypertrophic cardiomyopathy, Exocrine p...	OMIM:616539
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morp...	ORPHA:100075
Desbuquois Dysplasia 2	Proptosis	OMIM:615777
17Q11 Microdeletion Syndrome	Abnormal central motor function, Telangiectasia of the skin, Rhabdomyosarcoma, Hypertelorism, Pre...	ORPHA:97685
Behçet Disease	Glomerulopathy, Pericarditis, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphade...	ORPHA:117
Intellectual Developmental Disorder, Autosomal Dominant 42	Cerebral palsy, Dystonia, Congenital hypothyroidism, Myoclonus, Limb dystonia, Hemiplegia, Lower ...	OMIM:616973
Campomelic Dysplasia	Proptosis, Hypertelorism	ORPHA:140
Hallermann-Streiff Syndrome	Congestive heart failure, Hypothyroidism, Abdominal situs inversus, Cryptorchidism	ORPHA:2108
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, ...	ORPHA:1359
White-Kernohan Syndrome	Hypothyroidism, Hypotelorism	OMIM:619426
Ataxia-Telangiectasia	Conjunctival telangiectasia, Diabetes mellitus, Female hypogonadism, Ataxia, Dystonia, Tremor, Sl...	OMIM:208900
Juvenile Nephropathic Cystinosis	Hypovolemia, Hypothyroidism, Elevated alkaline phosphatase of bone origin	ORPHA:411634
Lysinuric Protein Intolerance	Hepatomegaly, Splenomegaly, Thrombocytopenia, Stage 5 chronic kidney disease, Leukopenia, Aminoac...	OMIM:222700
Cherubism	Proptosis, Marcus Gunn pupil	OMIM:118400
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria, Leukopenia, T...	ORPHA:536
Fontaine Progeroid Syndrome	Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Absent nipple, Hyperteloris...	OMIM:612289
Roberts Syndrome	Progressive flexion contractures, Polyhydramnios, Hypertelorism, Cryptorchidism, Knee flexion con...	ORPHA:3103
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Hypertelorism, Cryptorchidism, Proptosis, Atrial septal defect, Arrhyt...	ORPHA:1519
Neurooculorenal Syndrome	Decreased circulating cortisol level, Ectopic posterior pituitary, Dextrocardia, Cryptorchidism, ...	OMIM:620305
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Microphthalmia, Syndromic 2	Ventricular septal defect, Dextrocardia, Hypothyroidism, Cryptorchidism, Flexion contracture, Dou...	OMIM:300166
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:667
Orofaciodigital Syndrome Type 4	Monorchism, Camptodactyly of finger, Hypertelorism, Primary adrenal insufficiency, Proptosis, Abs...	ORPHA:2753
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Hypertelorism, Proptosis, Bradycardia, Pulmonary insufficiency, ...	OMIM:614437
Catel-Manzke Syndrome	Overriding aorta, Ventricular septal defect, Dextrocardia, Hypertelorism, Cryptorchidism, Proptos...	OMIM:616145
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia, Edema, Dehydration	ORPHA:79404
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Toriello-Lacassie-Droste Syndrome	Proptosis, Polyhydramnios	ORPHA:3339
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione...	OMIM:201750
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Okamoto Syndrome	Ventricular septal defect, Hypertelorism, Splenomegaly, Abnormal left ventricle morphology, Primu...	ORPHA:2729
Lipodystrophy, Congenital Generalized, Type 2	Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, Nephrolithiasis, Ventric...	OMIM:269700
Wiedemann-Rautenstrauch Syndrome	Hypertelorism, Secundum atrial septal defect, Cryptorchidism, Flexion contracture, Truncal ataxia...	OMIM:264090
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Pollakisuria, Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymp...	ORPHA:90340
Holoprosencephaly 2	Adrenal hypoplasia, Hypotelorism, Proptosis, Cyclopia, Diabetes insipidus, Anterior pituitary age...	OMIM:157170
Juvenile Xanthogranuloma	Proptosis, Hyphema	ORPHA:158000
Osteoglophonic Dysplasia	Camptodactyly of finger, Hypertelorism, Cryptorchidism, Proptosis, Shallow orbits	OMIM:166250
Developmental And Epileptic Encephalopathy 95	Cryptorchidism, Hepatomegaly, Cardiomegaly	OMIM:618143
Robinow Syndrome, Autosomal Recessive 1	Hypertelorism, Cryptorchidism, Macroglossia, Right ventricular outlet tract obstruction, Proptosis	OMIM:268310
Charge Syndrome	Hypoparathyroidism, Overriding aorta, Ventricular septal defect, Facial palsy, Hypogonadotropic h...	OMIM:214800
Short Stature With Microcephaly And Distinctive Facies	Proptosis	OMIM:615789
Pseudoaminopterin Syndrome	Posterolateral diaphragmatic hernia, Hypertelorism, Asplenia, Cryptorchidism, Proptosis, Patent f...	ORPHA:221120
Blomstrand Lethal Chondrodysplasia	Proptosis, Hydrops fetalis, Polyhydramnios	ORPHA:50945
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Recurrent urinary tract infections, Autoimmune thro...	ORPHA:331235
Neu-Laxova Syndrome 1	Ventricular septal defect, Polyhydramnios, Hypertelorism, Cryptorchidism, Proptosis, Transpositio...	OMIM:256520
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula...	OMIM:210710
Williams-Beuren Syndrome	Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Incoord...	OMIM:194050
Kosaki Overgrowth Syndrome	Proptosis	OMIM:616592
Gaucher Disease	Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m...	ORPHA:355
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Le...	OMIM:615530
Gaisböck Syndrome	Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephrocalcinosis, Hypernatriur...	ORPHA:90041
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Parotitis, Proteinuria, Orchitis, S...	ORPHA:99827
Lipodystrophy, Congenital Generalized, Type 1	Hepatomegaly, Acute pancreatitis, Splenomegaly, Nephrolithiasis, Polycystic ovaries, Cardiomyopat...	OMIM:608594
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Red urine, Cholelithiasis, Pink urine, Th...	OMIM:263700
Melnick-Needles Syndrome	Hypertelorism, Mitral valve prolapse, Proptosis, Tricuspid valve prolapse, Pulmonary arterial hyp...	OMIM:309350
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal circulating osteocalcin level, Proptosis	ORPHA:93315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Paraplegia, Mitral regurgi...	OMIM:271640
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Neoplasm of ...	ORPHA:744
Retinoblastoma	Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Hyphema, Pineoblastoma, Leiomyosarcom...	ORPHA:790
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Facial hypotonia, Hypertelorism, Gait ataxia, Proptosis, Shallow orbits	ORPHA:457359
Cystinosis, Nephropathic	Skeletal muscle atrophy, Hepatomegaly, Diabetes mellitus, Splenomegaly, Dehydration, Hypohidrosis...	OMIM:219800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Adrenal hypoplasia, Flexion contracture, Abnormal cardiac septum morphology, Thyroid hypoplasia, ...	OMIM:308050
Meester-Loeys Syndrome	Hypertelorism, Mitral valve prolapse, Proptosis, Camptodactyly, Joint contracture	OMIM:300989
Fibrous Dysplasia Of Bone	Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho...	ORPHA:249
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Proptosis, Hypertelorism	ORPHA:2211
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Hypertelorism, Bicuspid pulmonary valve, Mitral valve prolapse, Proptosis,...	OMIM:609192
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries	ORPHA:137675
Neurofibromatosis Type 1	Ataxia, Abnormality of the endocrine system, Precocious puberty, Cryptorchidism, Hypertension, Pr...	ORPHA:636
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Proptosis, Hypoplastic left heart, Apical muscular...	OMIM:301022
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Fetal ascites, Flexion contracture, Knee f...	OMIM:619503
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adreno...	ORPHA:100079
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hypertelorism, Proptosis, Gait ataxia	OMIM:617011
Viss Syndrome	Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Polyhydramnios, Hyper...	OMIM:619472
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Hypertelorism, Congenital hypothyroidism	OMIM:271510
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr...	ORPHA:1677
Osteopetrosis, Autosomal Recessive 7	Splenomegaly, Hepatomegaly, Proptosis	OMIM:612301
Wolf-Hirschhorn Syndrome	Accessory spleen, Decreased muscle mass, Ventricular septal defect, Hypertelorism, Precocious pub...	OMIM:194190
Treacher-Collins Syndrome	Hypertelorism, Cryptorchidism, Blepharospasm, Abnormality of the adrenal glands, Hypoplasia of th...	ORPHA:861
Primary Sjögren Syndrome	Normocytic anemia, Renal insufficiency, Chronic active hepatitis, Parotitis, Abnormality of the k...	ORPHA:289390
Craniotubular Dysplasia, Ikegawa Type	Proptosis, Ventricular septal defect, Hypertelorism	OMIM:619727
Leptospirosis	Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Lymphadenopathy, Acute k...	ORPHA:509
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Maturity-onset diabetes of the young, Tremor, Hy...	ORPHA:1578
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Abn...	OMIM:234200
Branchioskeletogenital Syndrome	Blepharochalasis, Absent nipple, Proptosis, Hypertelorism	ORPHA:1299
Igg4-Related Ophthalmic Disease	Eosinophilia, Cholangitis, Abnormality of the kidney, Retroperitoneal fibrosis, Orchitis, Abnorma...	ORPHA:449563
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Dilated cardiomyopathy, Flexion contracture, Foot joint contracture, Delayed puberty	ORPHA:79408
Ectodermal Dysplasia And Immunodeficiency 2	Aplasia of the sweat glands, Splenomegaly, Hepatomegaly	OMIM:612132
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch...	OMIM:300967
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Flexion contracture, Proptosis, Hypertelorism	OMIM:130070
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Dystonia, Bicuspid aortic valve, Mitral atresia, Ataxia, Increased hepatocellular lipid droplets,...	OMIM:220111
Autosomal Dominant Robinow Syndrome	Cryptorchidism, Proptosis, Camptodactyly of finger, Hypertelorism	ORPHA:3107
Pallister-Hall Syndrome	Decreased testicular size, Hypopituitarism, Ventricular septal defect, Adrenal hypoplasia, Hypert...	ORPHA:672
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Proptosis, Knee flexion contracture	OMIM:210730
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Abnormal heart valve morphology, Autoimmune thrombocytopenia, Hypersplenism, Spleno...	ORPHA:77293
Osteogenesis Imperfecta, Type Viii	Proptosis	OMIM:610915
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Reynolds Syndrome	Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia	OMIM:613471
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Atrioventricular canal defect, Horseshoe kidney, Hepatomegaly	OMIM:617088
Sotos Syndrome	Hip contracture, Ventricular septal defect, Ankle flexion contracture, Tremor, Cryptorchidism, Bi...	ORPHA:821
Primrose Syndrome	Hip contracture, Skeletal muscle atrophy, Diabetes mellitus, Hypergonadotropic hypogonadism, Atax...	OMIM:259050
Stickler Syndrome	Skeletal muscle atrophy, Hypertelorism, Hemiplegia/hemiparesis, Mitral valve prolapse, Macrogloss...	ORPHA:828
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden...	OMIM:619381
Paternal Uniparental Disomy Of Chromosome 6	Cryptorchidism, Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Rigidity, Cryptorchidism, Abnormal circulating calcium-phosphate regulating hormone concentration...	ORPHA:2636
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Pericarditis, Renal insufficiency, Orchitis, Jaundice, Neutrophilia...	ORPHA:99826
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Hypertelo...	OMIM:268300
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Proptosis	ORPHA:85199
Genitopatellar Syndrome	Hip contracture, Ventricular septal defect, Polyhydramnios, Cryptorchidism, Knee flexion contract...	OMIM:606170
Proboscis Lateralis	Cyclopia, Proptosis, Ventricular septal defect, Hypertelorism	ORPHA:141099
Robinow Syndrome, Autosomal Dominant 1	Hypertelorism, Cryptorchidism, Macroglossia, Right ventricular outlet tract obstruction, Proptosis	OMIM:180700
Doors Syndrome	Adrenal hyperplasia, Polyhydramnios, Hypertelorism, Congenital hypothyroidism, Myoclonus, Double ...	ORPHA:79500
Infantile Nephropathic Cystinosis	Abnormality of thyroid physiology, Dehydration	ORPHA:411629
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Hypertelorism, Bicuspid pulmonary valve, Mitral valve prolapse, Proptosis,...	OMIM:610168
Ring Chromosome 13 Syndrome	Hypoplasia of the gallbladder, Primary hypothyroidism, Hypertelorism	ORPHA:96176
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Oligosacchariduria, Left ventricular hypertrophy, Hypertrophic cardio...	ORPHA:365
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Hyp...	OMIM:613795
Peters Plus Syndrome	Polyhydramnios, Hypertelorism, Cryptorchidism, Bicuspid pulmonary valve, Congenital hypothyroidis...	ORPHA:709
African Trypanosomiasis	Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Splenomegaly, Jaundice, My...	ORPHA:3385
Elsahy-Waters Syndrome	Bilateral cryptorchidism, Proptosis, Hypertelorism	OMIM:211380
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Yunis-Varon Syndrome	Absent nipple, Ventricular septal defect, Polyhydramnios, Hypertelorism, Cryptorchidism, Hydrops ...	OMIM:216340
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Townes-Brocks Syndrome	Abnormal pulmonary valve morphology, Cryptorchidism, Abnormal cardiac septum morphology, Delayed ...	ORPHA:857
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica...	ORPHA:51608
Pallister-Killian Syndrome	Anhidrosis, Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hern...	OMIM:601803
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Tremor, Congenital malformation of the lef...	ORPHA:3455
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta	Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis	OMIM:226100
Plague	Hepatomegaly, Splenomegaly, Lymphadenitis, Endocarditis, Enlarged mesenteric lymph node	ORPHA:707
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblasto...	ORPHA:99889
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypertelorism, Proptosis, Elbow flexion contracture, Knee flexion contracture	OMIM:271665
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Townes-Brocks Syndrome 1	Ventricular septal defect, Cryptorchidism, Atrial septal defect, Tetralogy of Fallot, Hypothyroidism	OMIM:107480
Microphthalmia, Syndromic 6	Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism, Abnormality of...	OMIM:607932
Vascular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Telangiectasia of the skin, Transient ischemic attack, Hypertelo...	ORPHA:286
Sponastrime Dysplasia	Precocious puberty, Hypothyroidism	ORPHA:93357
Kabuki Syndrome 1	Ventricular septal defect, Premature thelarche, Cryptorchidism, Congenital hypothyroidism, Atrial...	OMIM:147920
Osteogenesis Imperfecta, Type Vii	Proptosis	OMIM:610682
Craniosynostosis And Dental Anomalies	Proptosis, Hypertelorism	OMIM:614188
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Gingival Fibromatosis-Hypertrichosis Syndrome	Ataxia	ORPHA:2026
Hypertrichosis, Congenital Generalized, 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 20.1 Data