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Gene: Wdfy3 MGI:1096875

Gene Summary

Name:

WD repeat and FYVE domain containing 3

Synonyms:

2610509D04Rik, Ggtb3, Alfy, Bchs, D5Ertd66e, Bwf1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
abnormal liver size	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
enlarged lymph nodes	Wdfy3^em1(IMPC)Mbp	HET	Late adult
cleft palate	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
abnormal lymph node morphology	Wdfy3^em1(IMPC)Mbp	HET	Early adult
abnormal kidney morphology	Wdfy3^em1(IMPC)Mbp	HET	Late adult
enlarged spleen	Wdfy3^em1(IMPC)Mbp	HET	Late adult
small kidney	Wdfy3^em1(IMPC)Mbp	HET	Late adult
edema	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
embryonic growth retardation	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
enlarged liver	Wdfy3^em1(IMPC)Mbp	HET	Late adult
abnormal liver morphology	Wdfy3^em1(IMPC)Mbp	HET	Late adult
abnormal placenta morphology	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
abnormal blood vessel morphology	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
abnormal lymph node morphology	Wdfy3^em1(IMPC)Mbp	HET	Late adult
abnormal spleen morphology	Wdfy3^em1(IMPC)Mbp	HET	Late adult
preweaning lethality, complete penetrance	Wdfy3^em1(IMPC)Mbp	HOM	Early adult
enlarged lymph nodes	Wdfy3^em1(IMPC)Mbp	HET	Early adult
abnormal facial morphology	Wdfy3^em1(IMPC)Mbp	HOM	E15.5
abnormal craniofacial morphology	Wdfy3^em1(IMPC)Mbp	HOM	E15.5

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

102 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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Gross Morphology Embryo E14.5-E15.5

Images

29 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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Human diseases caused by Wdfy3 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 Wdfy3 (1 diseases)
Human diseases predicted to be associated with Wdfy3 (1300 diseases)

The table below shows human diseases associated to Wdfy3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Microcephaly 18, Primary, Autosomal Dominant			OMIM:617520

The table below shows human diseases predicted to be associated to Wdfy3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Cephalin Lipidosis	Abnormality of the spleen	OMIM:212800
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Tuftsin Deficiency	Abnormality of the spleen	OMIM:191150
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Ventriculomeg...	OMIM:604213
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Lissencephaly, X-Linked, 1	Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse...	OMIM:300067
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Cyanosis, ...	ORPHA:1209
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Abnormality of neuronal migration, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Neutropenia, Severe Congenital, 9, Autosomal Dominant	3-Methylglutaconic aciduria, Splenomegaly	OMIM:619813
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Band Heterotopia	Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent...	OMIM:600348
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypertrophic cardiomyopathy, Cardiomegaly, Atrial septa...	OMIM:620135
Glycine N-Methyltransferase Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	OMIM:606664
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Congenital Disorder Of Glycosylation, Type Icc	Hepatomegaly	OMIM:301031
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Tyrosinemia Type 1	Hepatomegaly, Generalized aminoaciduria, Hepatocellular carcinoma, Acute hepatic failure, Splenom...	ORPHA:882
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Hydrops fetalis, Lymphedema, Vascular ring, Patent ductus arteriosus, Overriding aorta, Atrial se...	OMIM:601927
Lissencephaly 3	Polymicrogyria, Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissenc...	OMIM:611603
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Lissencephaly 4	Lissencephaly, Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum	OMIM:614019
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Ventriculomegaly, Abnormality of neuronal migration	OMIM:618709
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert...	OMIM:613424
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta	OMIM:212090
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Bence Jones Proteinuria, Splenomegaly, Abnormal B cell cou...	ORPHA:100024
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Persistent left superior vena cava, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arterio...	ORPHA:3304
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Colpocephaly, Lissencephaly, Ventriculomegaly	ORPHA:2185
Kerion Celsi	Lymphadenopathy	ORPHA:499
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Nephronophthisis 19	Hepatomegaly, Nephronophthisis, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibro...	OMIM:616217
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Anomalous origin of left coronary artery from the pulmonary artery, Death in infancy, Patent duct...	OMIM:618845
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Ascites, Camptodactyly, Death in infancy, Neonatal deat...	OMIM:608104
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Death in adolescence, Hypertrophic cardiomyopathy, Cardiomyocyte hypertroph...	OMIM:612158
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Miscarriage, Truncus arteriosus, Pulmonary ...	OMIM:620294
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Genitopalatocardiac Syndrome	Double outlet right ventricle, Right aortic arch, Transposition of the great arteries, Ventricula...	OMIM:231060
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:619874
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ascites, Nonimmune hydrops fetalis, Patent ductus arteriosus, Intrauterine growth retardation, Ov...	OMIM:617021
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Lissencephaly 1	Agyria, Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Congenital Heart Block	Peripheral edema, Hydrops fetalis, Patent foramen ovale, Pleural effusion, Pericardial effusion, ...	ORPHA:60041
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Cyanosis, Abnormal a...	ORPHA:860
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Aortic aneurysm, Patent foramen ovale, Distal amyotrophy, Persistent left superior vena cava, Abn...	ORPHA:477817
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Hepatomegaly, Splenomegaly	ORPHA:417
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly	ORPHA:100025
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Galactosemia Iii	Jaundice, Hepatomegaly, Galactosuria, Splenomegaly, Aminoaciduria	OMIM:230350
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Agyria, Gray matter heterotopia, Pachygyria, Ventriculomegaly	ORPHA:1084
Trimethylaminuria	Trimethylaminuria, Anemia, Splenomegaly, Neutropenia	OMIM:602079
Hypereosinophilic Syndrome, Idiopathic	Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Microlissencephaly	Polymicrogyria, Subcortical heterotopia, Simplified gyral pattern, Pachygyria, Lissencephaly, Per...	ORPHA:1083
Lethal Congenital Contracture Syndrome 10	Hydrops fetalis, Torticollis, Increased variability in muscle fiber diameter, Cardiomegaly, Overr...	OMIM:617022
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia...	ORPHA:79301
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy...	OMIM:601493
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis, Myopathy, Hypertrophic cardiomyopathy	ORPHA:91130
Burkitt Lymphoma	Abnormal lymph node morphology, Decreased proportion of CD4-positive helper T cells, Abnormality ...	ORPHA:543
Central Neurocytoma	Hydrocephalus, Abnormal lateral ventricle morphology	ORPHA:73256
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:613642
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Amyloidosis, Familial Visceral	Hepatomegaly, Hematuria, Cholestasis, Nephrotic syndrome, Splenomegaly, Proteinuria, Nephropathy	OMIM:105200
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Lobar holo...	OMIM:609637
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia	ORPHA:352682
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg...	OMIM:619658
Optic Atrophy 7 With Or Without Auditory Neuropathy	Pallor, Hypertrophic cardiomyopathy	OMIM:612989
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete...	ORPHA:101030
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Intrauterine growth retardation, Overriding aorta, Arteriovenous malformation, Abnormal aortic ar...	ORPHA:1110
Cold Agglutinin Disease	Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormal urinary color, Hemolytic anemia	ORPHA:56425
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
Galactosemia Iv	Prolonged neonatal jaundice, Hepatomegaly	OMIM:618881
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Cyanosis, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Deat...	OMIM:617478
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Scimitar Syndrome	Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena...	ORPHA:185
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Pallor, Stroke	ORPHA:49827
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Stage 5 chronic kidney disease, Hepatomegaly, Mediastinal lymphadeno...	OMIM:615559
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Congenital Pulmonary Lymphangiectasia	Hydrops fetalis, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Cyanosis	ORPHA:2414
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Polymicrogyria Due To Tubb2B Mutation	Polymicrogyria, Gray matter heterotopia, Perisylvian polymicrogyria, Pachygyria, Lateral ventricl...	ORPHA:300573
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615396
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Coarctation of aorta, Secundum atrial septal defect, At...	OMIM:600987
Intellectual Developmental Disorder, X-Linked 103	Polymicrogyria, Lateral ventricle dilatation	OMIM:300982
Recombinant Chromosome 8 Syndrome	Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Patent ductus arteriosus, Double outlet ri...	OMIM:179613
Acalvaria	Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida	ORPHA:945
Criss-Cross Heart	Transposition of the great arteries, Cyanosis, Tricuspid stenosis, Pulmonic stenosis, Abnormal mi...	ORPHA:1461
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Ritscher-Schinzel Syndrome 1	Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, Double outlet right ventricle, Atr...	OMIM:220210
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Vesic...	OMIM:617394
Progressive Familial Intrahepatic Cholestasis	Jaundice, Cholestasis, Splenomegaly, Hepatomegaly	ORPHA:172
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Intrauterine growth retardation, Tran...	ORPHA:3384
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Abno...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Hemochromatosis, Type 2B	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Splenom...	OMIM:613313
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Double Outlet Right Ventricle	Cyanosis, Truncus arteriosus, Pulmonary artery atresia, Pulmonic stenosis, Coarctation of aorta, ...	ORPHA:3426
Sandestig-Stefanova Syndrome	Intrauterine growth retardation, Perimembranous ventricular septal defect, Muscular ventricular s...	OMIM:618804
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Generalized amyotrophy, Pallor, Hypertrophic cardiomyopathy	OMIM:613561
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Autosomal Recessive Primary Microcephaly	Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Pachygyria	ORPHA:2512
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Alaninuria, Elevated circulating alanine aminotransferase concentration, Elevated c...	OMIM:615158
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Hydrops fetalis, Pericarditis, Pallor, Oligohydramnios	ORPHA:163596
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly, Reduced renal corticomedullary ...	OMIM:617610
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia, Subcortic...	OMIM:615191
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Coproporphyria, Hereditary	Elevated urinary delta-aminolevulinic acid, Jaundice, Hepatomegaly, Increased urinary porphobilin...	OMIM:121300
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
Snijders Blok-Campeau Syndrome	Pulmonic stenosis, Atrial septal defect, Perimembranous ventricular septal defect	OMIM:618205
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:615373
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect, Pulmonary artery atresia	OMIM:178370
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Pulmonic stenosis, Perimembranous ventricular septal defect, Transposition of the great arteries	OMIM:617877
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Hypoxemia, Ca...	ORPHA:439
Craniotelencephalic Dysplasia	Hydrocephalus, Lissencephaly, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Edema, Hypoplasia of right ven...	OMIM:212093
Heme Oxygenase 1 Deficiency	Hepatomegaly, Hematuria, Lymphadenopathy, Elevated circulating alanine aminotransferase concentra...	OMIM:614034
Acute Peripheral Arterial Occlusion	Stroke, Pallor, Limb muscle weakness	ORPHA:90064
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Jaundice, Enlarged kidney, Elevated circulating hepatic transaminase concentration, He...	OMIM:619902
Oculocerebrocutaneous Syndrome	Dandy-Walker malformation, Orbital encephalocele, Gray matter heterotopia, Agenesis of corpus cal...	OMIM:164180
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Cyanosis, Abnormal tricuspid valve annulus morphology, Patent foramen o...	ORPHA:555874
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node hypoplasia, Sple...	OMIM:602450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Transaldolase Deficiency	Hydrops fetalis, Premature skin wrinkling, Coarctation of aorta, Edema, Atrial septal defect, Biv...	ORPHA:101028
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen...	OMIM:207950
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis	OMIM:302000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Lissencephaly 6 With Microcephaly	Polymicrogyria, Microlissencephaly, Simplified gyral pattern, Pachygyria, Lissencephaly, Ventricu...	OMIM:616212
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Harderoporphyria	Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary porphobilinogen, Red urin...	OMIM:618892
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Cor pulmonale	OMIM:263000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Perimembranous ventricular septal defect, Muscular ventricular septal defect, Camptodactyly, Abno...	ORPHA:363444
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Colpocephaly, Simplified gyr...	OMIM:615219
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Congenital Disorder Of Glycosylation, Type Iir	Decreased liver function, Jaundice, Hepatomegaly, Hypospadias, Elevated circulating hepatic trans...	OMIM:301045
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Simplified gyral pattern, Lateral ventricle dilatation, Death in infancy	OMIM:617668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in childhood, Encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Agyria, ...	OMIM:614643
Aortic Arch Interruption	Transposition of the great arteries, Cyanosis, Patent ductus arteriosus, Aortic valve atresia, Ao...	ORPHA:2299
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Heterotaxy, Visceral, 1, X-Linked	Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Bilateral superior vena cava, Transposit...	OMIM:306955
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Simplified gyral patt...	OMIM:604317
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Transposition of the g...	OMIM:600001
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:2584
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
3-Methylglutaconic Aciduria Type 1	3-Methylglutaconic aciduria, Hepatomegaly	ORPHA:67046
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Patent foramen ovale, Pulmonary artery atresia, Tetralogy of Fallot, Pate...	OMIM:618316
Indomethacin Embryofetopathy	Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Ventricular septal defect, Oligohydramnios	ORPHA:1909
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Dextrocardia, Patent ductus arteriosus, Ventricular se...	OMIM:619657
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Rheumatic Fever	Myocarditis, Abnormal aortic valve morphology, Abnormal heart valve morphology, Abnormal mitral v...	ORPHA:3099
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Death in infancy	OMIM:618266
Mungan Syndrome	Pulmonic stenosis, Perimembranous ventricular septal defect	OMIM:611376
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
Tetralogy Of Fallot	Intrauterine growth retardation, Tetralogy of Fallot	ORPHA:3303
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Right ventricular dilatation, Stroke, Left ventricular hypertrophy	OMIM:614022
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Joubert Syndrome 30	Polymicrogyria, Dandy-Walker malformation, Gray matter heterotopia, Agenesis of corpus callosum, ...	OMIM:617622
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
2,4-Dienoyl-Coa Reductase Deficiency	Death in childhood, Hydrocephalus, Death in infancy, Colpocephaly, Ventriculomegaly	OMIM:616034
Perching Syndrome	Joint contracture, Camptodactyly, Cyanosis	OMIM:617055
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly, Hepatomegaly	OMIM:609981
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Hydrocephalus, Dandy-Walker malformation, Type II lissencephaly, Dilated third ventricle, Lateral...	OMIM:613154
Breath-Holding Spells	Pallor, Cyanosis	OMIM:607578
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Asbestos Intoxication	Hypoxemia, Myocardial fibrosis, Edema, Cyanosis, Cor pulmonale, Oxygen desaturation on exertion	ORPHA:2302
Hemimegalencephaly	Polymicrogyria, Gliosis, Gray matter heterotopia, Abnormal neuron morphology, Pachygyria, Ventric...	ORPHA:99802
Congenital Disorder Of Glycosylation, Type Iie	Perimembranous ventricular septal defect, Jaundice, Excessive wrinkled skin, Death in infancy, Se...	OMIM:608779
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Elevated circulating hepatic transaminase ...	ORPHA:54251
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Pulmonary edema, Pedal edema, Patent foramen ovale, Truncus ar...	ORPHA:980
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Simplified gyral pattern, Partial agenesis of the corpus callosum	OMIM:616171
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Splenomegaly, Hepatic failure	ORPHA:664
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Hydrocephalus, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly	OMIM:620156
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Coronary Arterial Fistula	Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o...	ORPHA:2041
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Patent ductus arteriosus, Bicuspid aortic valve, A...	OMIM:618719
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card...	OMIM:617228
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly	ORPHA:721
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
American Trypanosomiasis	Myocarditis, Cardiomyopathy, Periorbital edema, Edema, Pallor	ORPHA:3386
Isolated Polycystic Liver Disease	Hepatomegaly, Abnormality of the pancreas, Multiple renal cysts, Polycystic liver disease	ORPHA:2924
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Pseudomyxoma Peritonei	Ascites, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Gray matter hetero...	ORPHA:370959
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypertrophic cardiomyopathy, Fl...	OMIM:252011
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i...	OMIM:603909
Hyperinsulinism Due To Ucp2 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology	OMIM:601612
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Fumarase Deficiency	Perimembranous ventricular septal defect, Polyhydramnios, Ascites, Reduced subcutaneous adipose t...	OMIM:606812
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Aorto-Ventricular Tunnel	Aortic root aneurysm, Abnormal heart valve morphology, Ventricular hypertrophy, Abnormal aortic m...	ORPHA:3400
Primary Pulmonary Hypoplasia	Abnormal hemidiaphragm morphology, Cyanosis, Dextrocardia, Hypoxemia, Secundum atrial septal defe...	ORPHA:2257
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Cyanosis, Transient Neonatal	Jaundice, Anemia, Hepatomegaly, Reticulocytosis, Methemoglobinemia	OMIM:613977
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Hepatic Veno-Occlusive Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Ascites, Renal i...	ORPHA:890
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, Death in childhood, Fl...	OMIM:618651
Neuralgic Amyotrophy	Redundant neck skin, Scapular winging, Upper limb muscle weakness, Upper limb amyotrophy, Acrocya...	ORPHA:2901
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Abnormality of the ureter, Splenomegaly	ORPHA:1046
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Fu...	OMIM:308240
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Pedal edema	ORPHA:422
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma...	ORPHA:244
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Peroxisome Biogenesis Disorder 8A (Zellweger)	Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly	OMIM:614876
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Familial Aortic Dissection	Mucoid extracellular matrix accumulation, Patent ductus arteriosus, Descending thoracic aorta ane...	ORPHA:229
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Abnormality...	ORPHA:899
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Redundant neck skin, Polyhydramnios, Pulmonary artery atresia, Arthrogryposis multiplex congenita...	OMIM:301056
Heterotaxy, Visceral, 5, Autosomal	Atrioventricular canal defect, Double inlet left ventricle, Dextrocardia, Patent ductus arteriosu...	OMIM:270100
Thrombocythemia 1	Thrombocytosis, Splenomegaly	OMIM:187950
Kallmann Syndrome-Heart Disease Syndrome	Anomalous origin of left coronary artery from the pulmonary artery, Right aortic arch, Pulmonary ...	ORPHA:2326
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Anemia, Lymphadenopathy, Neoplasm of the pancreas, Abnormal peritoneum morphology, ...	ORPHA:83469
Adams-Oliver Syndrome 2	Hydrocephalus, Polymicrogyria, Lateral ventricle dilatation	OMIM:614219
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Hypertrophic cardiomyopathy	OMIM:610773
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Cyanosis, Bicuspid pulm...	ORPHA:3427
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Nephroblastoma	Neoplasm of the liver, Hematuria, Lymphadenopathy	ORPHA:654
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Polymicrogyria, Colpocephaly	OMIM:618731
Aortic Aneurysm, Familial Thoracic 4	Coronary artery atherosclerosis, Stroke, Ascending tubular aorta aneurysm, Posterior cerebral art...	OMIM:132900
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Meacham Syndrome	Death in infancy, Bicuspid aortic valve, Transposition of the great arteries, Common atrium, Diap...	OMIM:608978
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Chromosome 9P Deletion Syndrome	Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Patent...	OMIM:158170
Myopathic Ehlers-Danlos Syndrome	Ankle flexion contracture, Weakness of facial musculature, Foot joint contracture, Congenital mus...	ORPHA:536516
Beta-Thalassemia	Pallor, Skin ulcer, Hypertrophic cardiomyopathy	ORPHA:848
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Lipodystrophy, Congenital Generalized, Type 3	Hepatic steatosis, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Hemolytic-uremic syndrome, Hemophagocytosis, Lymphadenopathy, Elevated circulating ...	OMIM:619644
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Lissencephaly Syndrome, Norman-Roberts Type	Microlissencephaly, Abnormality of neuronal migration, 4-layered lissencephaly, Agenesis of corpu...	ORPHA:89844
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
8P23.1 Duplication Syndrome	Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot	ORPHA:251076
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Agenesis of corpus callosum, Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle d...	OMIM:618736
Renal Tubular Dysgenesis	Oligohydramnios, Polyhydramnios, Tetralogy of Fallot	ORPHA:3033
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Basal ganglia gliosis, Lateral ventricle dilatation	OMIM:607596
Adams-Oliver Syndrome 6	Renal hypoplasia, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Babesiosis	Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Renal insufficiency, Hemolyti...	ORPHA:108
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Splenomegaly	ORPHA:93476
Maternal Phenylketonuria	Coarctation of aorta, Abnormal heart morphology, Tetralogy of Fallot, Double outlet right ventric...	ORPHA:2209
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ...	OMIM:257200
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Abnormal T cell count, Hydronephrosis...	OMIM:613496
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
Hemochromatosis, Type 2A	Cirrhosis, Hepatomegaly, Splenomegaly	OMIM:602390
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Ventricular Septal Defect 3	Pulmonary artery stenosis, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus	OMIM:614432
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi...	ORPHA:75564
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal tricuspid valve morphology, Hydrops fetalis, Abnormal aortic morphology,...	ORPHA:3405
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Cardiac Valvular Dysplasia 2	Central cyanosis, Ascending tubular aorta aneurysm, Dysplastic aortic valve, Pulmonic stenosis, B...	OMIM:620067
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Benign Paroxysmal Torticollis Of Infancy	Pallor, Torticollis	ORPHA:71518
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Ventriculomegaly	ORPHA:93274
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Gliosis, Lateral ventricle dilatation	OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Left ventricular noncompaction, Hypertrophic cardiomyopathy, Patent ductus arteriosus	OMIM:616501
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Overriding aorta, Atrial septal def...	OMIM:309801
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase...	ORPHA:64743
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co...	OMIM:615234
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Atrial septal defect, Perime...	OMIM:620662
Lymphatic Malformation 8	Stillbirth, Polyhydramnios, Pleural effusion, Generalized edema, Pericardial effusion, Nonimmune ...	OMIM:618773
Dermatitis, Atopic	Pallor, Facial erythema, Dry skin	OMIM:603165
Buerger Disease	Vasculitis, Skin ulcer, Livedo reticularis, Acrocyanosis	ORPHA:36258
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Fetal Trimethadione Syndrome	Transposition of the great arteries, Tetralogy of Fallot, Intrauterine growth retardation, Atrial...	ORPHA:1913
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney...	OMIM:208540
Glycogen Storage Disease Of Heart, Lethal Congenital	Peripheral edema, Pulmonary edema, Cyanosis, Cardiomyopathy, Ascites, Hypertrophic cardiomyopathy...	OMIM:261740
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Aortic root aneu...	OMIM:616652
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:444013
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Ogden Syndrome	Left atrial enlargement, Redundant neck skin, Redundant skin, Cutis laxa, Cardiomegaly, Bicuspid ...	OMIM:300855
Biliary Atresia, Extrahepatic	Cirrhosis, Jaundice, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase con...	OMIM:210500
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:131
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Periportal fibrosis, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Nephrotic syndrome, He...	OMIM:618935
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Coarctation of aorta, Mitral valve prolapse, Bicuspid aortic valve, Atrial septal defect, Ventric...	ORPHA:371428
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Nephrotic sy...	ORPHA:39041
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Cirrhosis, Hepatomegaly, Portal fibrosis, Elevated circulating hepatic transaminase concentration...	ORPHA:369
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Renal-Hepatic-Pancreatic Dysplasia 2	Enlarged kidney, Hepatomegaly, Cholestasis, Asplenia, Hepatic cysts, Hepatic fibrosis, Malformati...	OMIM:615415
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Pallor, Intrauterine growth retardation, Atrial septal defect, Ventricular ...	OMIM:609053
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly	ORPHA:3162
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Wolcott-Rallison Syndrome	Jaundice, Dehydration, Ascites, Double outlet right ventricle, Atrial septal defect	ORPHA:1667
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Congenital Tracheomalacia	Cyanosis, Patent ductus arteriosus, Right aortic arch, Double aortic arch, Cutis laxa, Abnormal h...	ORPHA:95430
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Infantile Sialic Acid Storage Disease	Hepatomegaly, Vacuolated lymphocytes, Ascites, Nephrotic syndrome, Splenomegaly, Cardiomegaly	OMIM:269920
Sickle Cell Disease	Jaundice, Hepatomegaly, Hematuria, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells...	OMIM:603903
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Abnormal pulmonary vein morphology, Pleural effusion, Pericardial effusion, Hypo...	ORPHA:199241
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Rhabdoid Tumor	Hematuria, Anemia, Lymphadenopathy, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl...	ORPHA:2585
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Ventriculomegaly, Perisylvian polymicrogyria, Spina bifida occulta, Lateral ventricle dilatation	OMIM:618291
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Craniosynostosis 6	Agenesis of corpus callosum, Dandy-Walker malformation, Spina bifida occulta, Lateral ventricle d...	OMIM:616602
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Pyruvate Dehydrogenase E1-Alpha Deficiency	Polymicrogyria, Gliosis, Basal ganglia gliosis, Agenesis of corpus callosum, Lateral ventricle di...	ORPHA:79243
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lissencephaly, Simplified gyral pattern, Lateral ventricle dilatation	ORPHA:284417
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Hydrocephalus, Ventriculomegaly, Periventricular heterotopia, Colpocephaly	OMIM:619833
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Cryoglobulinemic Vasculitis	Hepatomegaly, Mediastinal lymphadenopathy, Hematuria, Viral hepatitis, Splenomegaly, Proteinuria,...	ORPHA:91138
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Abnormal aortic morphology, Tetralogy of Fallot, Abnormality of ...	ORPHA:1166
Dubin-Johnson Syndrome	Jaundice, Hepatomegaly, Biliary tract abnormality, Abnormality of the liver, Abnormal urinary color	ORPHA:234
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Thrombocytopenia, Splenomegaly, Renal insufficiency, Neutropenia	ORPHA:79312
Sialidosis Type 2	Ascites, Hepatomegaly, Nephropathy, Splenomegaly	ORPHA:87876
Galactose Mutarotase Deficiency	Decreased liver function, Hepatomegaly, Cholestasis	ORPHA:570422
Postsynaptic Congenital Myasthenic Syndromes	Hip flexor weakness, Cyanosis, Abnormality of masticatory muscle, Triceps weakness, Upper limb mu...	ORPHA:98913
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Death in childhood, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:619517
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Abnormal atrioventricular valve morphology, Stroke-like epi...	ORPHA:563
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Congenital Disorder Of Glycosylation, Type Iij	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, H...	OMIM:613489
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Agenesis of corpus callosum, Dilated third ventricle, Simplified gyral pattern, Lateral ventricle...	OMIM:619244
Congenital Fibrinogen Deficiency	Cyanosis, Right ventricular hypertrophy, Left ventricular hypertrophy, Bruising susceptibility, S...	ORPHA:335
Desmosterolosis	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Pac...	ORPHA:35107
Atrial Standstill	Ischemic stroke, Muscular dystrophy, Cardiomyopathy, Abnormal heart morphology, Skeletal muscle a...	ORPHA:1344
Holoprosencephaly 14	Aqueductal stenosis, Subependymal cysts, Alobar holoprosencephaly, Hydrocephalus, Dandy-Walker ma...	OMIM:619895
Catel-Manzke Syndrome	Dextrocardia, Camptodactyly, Coarctation of aorta, Intrauterine growth retardation, Overriding ao...	OMIM:616145
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Patent ductus arteriosus, Varicose veins, Ventricular septal defect...	OMIM:126320
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
16P13.11 Microdeletion Syndrome	Ventriculomegaly, Abnormality of neuronal migration, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:261236
Bile Acid Conjugation Defect 1	Jaundice, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated cir...	OMIM:619232
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Peroxisome Biogenesis Disorder 12A (Zellweger)	Double outlet right ventricle, Atrial septal defect, Patent ductus arteriosus	OMIM:614886
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatic cysts, Hepatomegaly	OMIM:617004
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Hsd10 Disease, Infantile Type	Cardiomegaly, Cyanosis, Hypertrophic cardiomyopathy	ORPHA:391428
Carnitine Palmitoyltransferase Ii Deficiency	Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pa...	ORPHA:157
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy	ORPHA:369847
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Patent foramen ovale, Neonatal death, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ...	OMIM:619167
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation	OMIM:618890
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	OMIM:613443
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Nephrotic ...	OMIM:612783
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Lethal Congenital Contracture Syndrome 2	Polyhydramnios, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Edema, Dilated cardi...	OMIM:607598
Neurocutaneous Melanocytosis	Meningocele, Dandy-Walker malformation, Death in infancy, Abnormality of neuronal migration, Vent...	ORPHA:2481
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Acute Interstitial Pneumonia	Pleural effusion, Pericardial effusion, Hypoxemia, Peripheral edema, Cyanosis	ORPHA:79126
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Primary Lateral Sclerosis, Juvenile	Pallor, Spasticity of facial muscles	OMIM:606353
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Redundant neck skin, Patent ductus arteriosus, Pulmonary artery atresia, Supravalvar pulmonary st...	OMIM:618164
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Perimembranous ventricular septal defect, Atrioventricular canal defect, Truncus arteriosus, Faci...	ORPHA:508498
X-Linked Intellectual Disability, Nascimento Type	Patent foramen ovale, Abnormal vena cava morphology, Dry skin, Oligohydramnios, Mitral stenosis, ...	ORPHA:163956
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Microphthalmia-Brain Atrophy Syndrome	Lateral ventricle dilatation	ORPHA:77299
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Nephronophthisis, Cholestasis, Splenomegaly, Chronic kidney disease, Hepatic fibros...	OMIM:615630
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Proximal tubulopathy...	ORPHA:231222
Free Sialic Acid Storage Disease	Hepatomegaly, Ascites, Nephrotic syndrome, Proteinuria, Splenomegaly	ORPHA:834
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Anemia, ...	ORPHA:85450
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum, Ventriculomegaly, Periventricular heterotopia, Pachygyria	ORPHA:255138
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Hepatitis, Fulminant Viral, Susceptibility To	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Fulminant hepati...	OMIM:618549
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Pallor	ORPHA:99931
Lymphatic Malformation 7	Pulmonary edema, Facial edema, Chylothorax, Lymphedema, Pleural effusion, Ascites, Increased nuch...	OMIM:617300
Necrotizing Enterocolitis	Edema, Abnormal heart morphology, Ascites, Cyanosis	ORPHA:391673
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Palmoplantar scaling skin, Death in early adulthood, Death in adolescence, Fragile skin, Palmopla...	OMIM:605676
Neuraminidase Deficiency	Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Ascites, Urinary excretion of sialy...	OMIM:256550
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Mitral valve p...	ORPHA:1686
Cardiomyopathy, Familial Restrictive, 6	Hepatic artery hyperplasia, Hepatomegaly, Portal vein hypoplasia, Ascites	OMIM:619433
Pulmonary Arteriovenous Malformation	Ischemic stroke, Bacterial endocarditis, Pleural empyema, Transient ischemic attack, Hypoxemia, P...	ORPHA:2038
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ...	OMIM:615067
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia	OMIM:620210
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Ventricular septal defect, Macroglossia	OMIM:301040
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Congenital Tracheal Stenosis	Anomalous origin of left pulmonary artery from ascending aorta, Cyanosis, Polyhydramnios, Pulmona...	ORPHA:141127
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Pseudo-Torch Syndrome 2	Polymicrogyria, Ventriculomegaly, Gray matter heterotopia, Lateral ventricle dilatation	OMIM:617397
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Hypoxemia, Mitral stenosis, A...	ORPHA:2847
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Hematuria, Abdominal mass, Ureter...	ORPHA:160
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Lateral ventricle dilatation	OMIM:608629
Roifman Syndrome	Eosinophilia, Hepatomegaly, Splenomegaly, Lymphadenopathy	OMIM:616651
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Acrocyanosis	ORPHA:1867
Optic Atrophy 1	Pallor	OMIM:165500
Meckel Syndrome, Type 3	Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Multicystic kidney dysplasia, Malformati...	OMIM:607361
Down Syndrome	Redundant neck skin, Atrioventricular canal defect, Patent ductus arteriosus, Patent foramen oval...	OMIM:190685
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Stroke, Transient ischemic attack, Anomalous origin of the left common carotid artery f...	ORPHA:99104
Polysyndactyly With Cardiac Malformation	Stillbirth, Atrial septal defect, Ventricular septal defect, Polyhydramnios	OMIM:263630
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Right ventricular dilatation, Hypertrophic cardiomyopathy	OMIM:619705
Retinitis Pigmentosa 59	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Renal insufficiency, Micro...	OMIM:613861
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Congenital Disorder Of Glycosylation, Type Ib	Cirrhosis, Lymphangiectasis, Hepatomegaly, Proximal tubulopathy, Renal cyst, Hepatic fibrosis, He...	OMIM:602579
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Coarctation of aorta, Abnormal heart morphology, Tetralo...	ORPHA:261183
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Methimazole Embryofetopathy	Polyhydramnios, Abnormal aortic morphology, Coarctation of aorta, Intrauterine growth retardation...	ORPHA:1923
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Coach Syndrome 1	Cirrhosis, Hepatomegaly, Nephronophthisis, Unilateral renal agenesis, Elevated circulating hepati...	OMIM:216360
Williams Syndrome	Abnormal carotid artery morphology, Redundant skin, Pulmonic stenosis, Mitral valve prolapse, Abn...	ORPHA:904
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc...	ORPHA:294
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Reduced renal corticomedullary differentiation, Hepatomegaly, Splenomegaly	OMIM:618541
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Elevated urinary inosine level, Neutropenia in presence of anti-neut...	OMIM:613179
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Cyanosis, Right atrial enlargement, Left ventricular hypertrophy, Periph...	ORPHA:99106
Thanatophoric Dysplasia	Hydrocephalus, Ventriculomegaly, Gray matter heterotopia	ORPHA:2655
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Waardenburg Syndrome Type 3	Camptodactyly of finger, Atrial septal defect, Acrocyanosis	ORPHA:896
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Agenesis of corpus callosum, Pa...	ORPHA:228308
Polycythemia Vera	Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro...	OMIM:263300
Adult-Onset Still Disease	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, L...	ORPHA:829
Hereditary Spherocytosis	Jaundice, Pallor, Restrictive cardiomyopathy, Skin ulcer	ORPHA:822
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Dandy-Walker malformation, Agenesis of corpus callosum, Ventriculomegaly, Perivent...	OMIM:618476
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Polyhydramnios,...	OMIM:314390
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy	OMIM:601494
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos...	ORPHA:846
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly	ORPHA:90037
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, V...	OMIM:615895
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Evans Syndrome	Petechiae, Bruising susceptibility, Pallor, Jaundice	ORPHA:1959
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Overriding aorta, Tetralogy of Fallot	ORPHA:3186
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Glutamine Deficiency, Congenital	Subependymal cysts, Neonatal death, Lateral ventricle dilatation	OMIM:610015
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the thymu...	OMIM:300400
Farber Lipogranulomatosis	Lipogranulomatosis, Hepatomegaly, Splenomegaly	OMIM:228000
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Polymicrogyria, Lateral ventricle dilatation	OMIM:617751
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Patent ductus arteriosus, At...	OMIM:612561
Cholestasis, Benign Recurrent Intrahepatic, 1	Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Pancreatitis, Intermittent jaundice	OMIM:243300
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Cholestasis, Nephrotic syndrome, Hep...	ORPHA:60
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegal...	ORPHA:1451
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Van Der Woude Syndrome 1	Cleft upper lip, Bifid uvula, Cleft palate, Hypodontia, Lower lip pit	OMIM:119300
Scrub Typhus	Lymphadenopathy, Renal insufficiency, Splenomegaly	ORPHA:83317
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252920
Galactosemia I	Decreased liver function, Cirrhosis, Hepatomegaly, Galactosuria, Elevated circulating alanine ami...	OMIM:230400
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr...	OMIM:133100
Chromosome 6Q24-Q25 Deletion Syndrome	Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventricular dilatation, Mitral valve ...	OMIM:612863
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Hemochromatosis, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular ...	OMIM:235200
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Perimembranous ventricular septal defect, Transposition of the great arteries, Muscular ventricul...	OMIM:612474
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Dravet Syndrome	Pallor, Cyanotic episode	ORPHA:33069
Cleft Lip/Palate	Orofacial cleft, Abnormal number of permanent teeth, Palate fistula, Bilateral cleft palate, Peg-...	ORPHA:199306
Eosinophilic Granulomatosis With Polyangiitis	Myocarditis, Purpura, Myositis, Vasculitis, Transient ischemic attack, Hypertrophic cardiomyopath...	ORPHA:183
Giant Cell Arteritis	Skin ulcer, Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect...	ORPHA:397
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatomegaly, Hepatic necrosis	ORPHA:33402
Cach Syndrome	Dysgyria, T2 hypointense thalamus, Lateral ventricle dilatation	ORPHA:135
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Generalized amin...	OMIM:251880
Aicardi-Goutieres Syndrome 1	Purpura, Petechiae, Vasculitis, Cardiomyopathy, Prolonged neonatal jaundice, Acrocyanosis, Erythema	OMIM:225750
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Hematuria, Lymphadenopathy, Ascites, Splenomegaly, Proteinuria, Renal insufficiency	ORPHA:36412
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Renal insufficiency	ORPHA:2123
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Hypoplasia of penis, Leukocytosis	ORPHA:99812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Familial Partial Lipodystrophy, Köbberling Type	Hepatic steatosis, Hepatomegaly, Pancreatitis	ORPHA:79084
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Interrupted aortic arch, Tetralogy of Fallot, Ventricular se...	ORPHA:1727
Caroli Syndrome	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs...	ORPHA:480520
Diabetic Embryopathy	Transposition of the great arteries, Abnormal aortic morphology, Tetralogy of Fallot, Aplasia/Hyp...	ORPHA:1926
Esophageal Atresia	Cyanosis, Polyhydramnios, Coarctation of aorta, Tetralogy of Fallot, Pallor, Ventricular septal d...	ORPHA:1199
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Cholestasis, Progressive Familial Intrahepatic, 8	Cirrhosis, Jaundice, Hepatomegaly, Sclerosing cholangitis, Cholestasis, Portal hypertension, Bile...	OMIM:619662
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Brain Small Vessel Disease 2	Polymicrogyria, Ventriculomegaly, Subcortical heterotopia	OMIM:614483
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Hepatosplenomegaly, Sple...	OMIM:606003
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Non-Functioning Paraganglioma	Pallor, Flushing, Cerebral hemorrhage	ORPHA:94080
3-Hydroxy-3-Methylglutaric Aciduria	Jaundice, Dehydration, Pallor, Edema, Dilated cardiomyopathy	ORPHA:20
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Pulmonary artery aneurysm, Dermal translucency, Death in childho...	OMIM:614437
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Fragile sk...	OMIM:601214
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Primum atrial septal defect, Right ventricular hypertrophy...	ORPHA:1329
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Ventriculomegaly, Partial agenes...	OMIM:619775
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Atrial Septal Defect, Sinus Venosus Type	Right ventricular dilatation, Anomalous pulmonary venous return, Stroke	ORPHA:99105
Rubinstein-Taybi Syndrome 1	Perimembranous ventricular septal defect, Polyhydramnios, Patent foramen ovale, Aortic isthmus hy...	OMIM:180849
Dietary Iron Overload Disease	Hepatomegaly, Abnormal pancreas morphology, Hepatocellular carcinoma, Hepatic periportal necrosis...	ORPHA:139507
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Partial agenesis of the corpus callosum, Lateral ventricle dilatation	OMIM:617296
Cholestasis, Benign Recurrent Intrahepatic, 2	Jaundice, Intrahepatic cholestasis, Cholelithiasis, Hepatomegaly	OMIM:605479
Kawasaki Disease	Myocarditis, Jaundice, Abnormal heart valve morphology, Vasculitis, Ascending tubular aorta aneur...	ORPHA:2331
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Hematuria, Renal insufficiency, Bone marrow hypocellular...	ORPHA:549
Histiocytoid Cardiomyopathy	Pulmonary edema, Cyanosis, Stroke-like episode, Cardiomegaly, Pallor, Ventricular septal defect	ORPHA:137675
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi...	ORPHA:2137
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Hematuria, Cholelithiasis, Pancytopenia, Biliary tract obstructi...	ORPHA:77259
Ventriculomegaly With Cystic Kidney Disease	Hydrocephalus, Ventriculomegaly, Gray matter heterotopia	OMIM:219730
Meckel Syndrome 14	Cyanosis, Oligohydramnios, Increased nuchal translucency, Single ventricle	OMIM:619879
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly	OMIM:614859
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Transposition of the great arteri...	ORPHA:251071
Thanatophoric Dysplasia, Type I	Hydrocephalus, Neonatal death, Gray matter heterotopia	OMIM:187600
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Hypoplastic left ...	OMIM:601186
Charge Syndrome	Polyhydramnios, Patent ductus arteriosus, Right aortic arch, Pulmonary artery atresia, Facial pal...	OMIM:214800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Normal pressure hydrocephalus, Polymicrogyria, Type II lissencephaly, Abnormal thalamus morpholog...	ORPHA:300570
Waldenström Macroglobulinemia	Purpura, Vasculitis, Stroke, Pleural effusion, Urticaria, Cutis marmorata, Periorbital edema, Pal...	ORPHA:33226
Lymphatic Malformation 5	Facial edema, Cleft palate, Predominantly lower limb lymphedema	OMIM:153200
Prolidase Deficiency	Hepatomegaly, Anemia, Hyperimidodipeptiduria, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Joubert Syndrome	Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Encephalocele	ORPHA:475
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cyanosis, Cardiomyopathy	ORPHA:159
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema, Cerebral edema	ORPHA:439218
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Renal tubular dysfunction, Thrombocytopenia, Renal insufficie...	ORPHA:289916
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum, Death in infancy	ORPHA:1493
Atrial Septal Defect, Ostium Secundum Type	Stroke, Transient ischemic attack, Right atrial enlargement, Abnormal mitral valve morphology, Ri...	ORPHA:99103
Scheie Syndrome	Mucopolysacchariduria, Hepatomegaly, Splenomegaly	ORPHA:93474
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Infantile Liver Failure Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Macrocytic anemia,...	OMIM:615438
Hemochromatosis, Type 4	Hepatic steatosis, Cirrhosis, Hepatomegaly, Anemia	OMIM:606069
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Meacham Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Transposition of the great arteries, Ven...	ORPHA:3097
Aicardi Syndrome	Polymicrogyria, Dandy-Walker malformation, Choroid plexus cyst, Dilated third ventricle, Gray mat...	OMIM:304050
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Agyria, Pachygyria, Lateral ventricle dilatation	ORPHA:2148
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Warsaw Breakage Syndrome	Intrauterine growth retardation, Ventricular septal defect, Tetralogy of Fallot, Cutis marmorata	OMIM:613398
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated circulating alani...	OMIM:618528
Frank-Ter Haar Syndrome	Redundant neck skin, Patent foramen ovale, Camptodactyly, Secundum atrial septal defect, Mitral v...	OMIM:249420
Dominant Beta-Thalassemia	Jaundice, Skin ulcer, Hypoplasia of the musculature, Pallor, Dilated cardiomyopathy	ORPHA:231226
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hep...	OMIM:613404
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri...	OMIM:619910
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
3C Syndrome	Hydrocephalus, Dandy-Walker malformation, Death in infancy, Abnormality of neuronal migration, Ve...	ORPHA:7
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia, Splenomegaly, Abnormal urinary...	ORPHA:90033
Congenital Bile Acid Synthesis Defect Type 2	Jaundice, Giant cell hepatitis, Hepatomegaly, Elevated circulating hepatic transaminase concentra...	ORPHA:79303
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine	OMIM:252900
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation	ORPHA:85290
Weiss-Kruszka Syndrome	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:618619
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Intrauterine growth retar...	ORPHA:2306
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Aa Amyloidosis	Acute kidney injury, Enlarged kidney, Hepatomegaly, Cholestasis, Nephrotic syndrome, Proteinuria,...	ORPHA:85445
Aredyld Syndrome	Hepatomegaly, Splenomegaly, Abnormality of the ureter	ORPHA:1133
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Ascites,...	ORPHA:100086
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Dandy-Walker malformation, Type II lissencep...	OMIM:615287
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al...	OMIM:619824
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Congenital Muscular Dystrophy Without Intellectual Disability	Ventriculomegaly, Gray matter heterotopia, Pachygyria	ORPHA:370980
Eosinophilic Fasciitis	Myositis, Muscular edema, Edema, Acrocyanosis	ORPHA:3165
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Abnormality of neuronal migration, Encephalocele	ORPHA:2318
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Pulmonic stenosis, Mitra...	OMIM:142900
Hereditary Orotic Aciduria	Oroticaciduria, Anemia, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Aminoa...	ORPHA:30
Fucosidosis	Cardiomegaly, Decreased muscle mass, Vascular skin abnormality, Acrocyanosis	ORPHA:349
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Renal insufficiency, Ly...	ORPHA:139402
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Contracture of the proximal interphalangeal joint of the 5th finger, Transposition of the great a...	OMIM:280000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Osteopetrosis, Autosomal Recessive 7	Hydrocephalus, Death in childhood, Lateral ventricle dilatation, Death in infancy	OMIM:612301
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypop...	ORPHA:1596
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	3-Methylglutaconic aciduria, Hepatomegaly, Renal hypoplasia, Anisocytosis, Aminoaciduria, Lactica...	OMIM:604273
Pontocerebellar Hypoplasia, Type 13	Dandy-Walker malformation, Lateral ventricle dilatation	OMIM:618606
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:230800
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Galloway-Mowat Syndrome	Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 4th finger, Pulmonic stenosis, Contractu...	OMIM:618223
Eisenmenger Syndrome	Atrioventricular canal defect, Cyanosis, Bacterial endocarditis, Stroke, Aortopulmonary window, A...	ORPHA:97214
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic ...	OMIM:618805
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi...	OMIM:619418
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Sick Sinus Syndrome 2	Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy	OMIM:163800
Viss Syndrome	Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sinus enlargement...	OMIM:619472
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:330012
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Cholestasis, Biliary cirrhosis, Hydronephrosis, Elevated...	OMIM:620454
Holoprosencephaly 13, X-Linked	Patent foramen ovale, Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal...	OMIM:301043
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Intellectual Developmental Disorder, X-Linked 12	Ventriculomegaly, Abnormality of neuronal migration, Gliosis	OMIM:300957
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Meningocele, Dandy-Walker malformation, Dilated third ventricle, Colpoce...	ORPHA:397715
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Nephropathy...	ORPHA:809
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:367
Alkuraya-Kucinskas Syndrome	Hydrocephalus, Dandy-Walker malformation, Gray matter heterotopia, Lissencephaly, Ventriculomegaly	OMIM:617822
Lymphatic Malformation 6	Facial edema, Intestinal lymphangiectasia, Polyhydramnios, Chylothorax, Genital edema, Lymphedema...	OMIM:616843
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Ele...	OMIM:260920
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Idiopathic Hypereosinophilic Syndrome	Myocardial eosinophilic infiltration, Transient ischemic attack, Pleural effusion, Angioedema, Va...	ORPHA:3260
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pallor, Jaundice	OMIM:613839
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Impa...	OMIM:214500
Kaposiform Lymphangiomatosis	Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma...	ORPHA:464329
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventriculomegaly, Abnormality of neuronal migration	ORPHA:2772
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Gliosis, Death in childhood, Lateral ventricle dilatation	OMIM:619847
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Leukopenia, Thrombocytopenia, Renal insuff...	ORPHA:27
Alternating Hemiplegia Of Childhood	Facial hypotonia, Cardiomyopathy, Dehydration, Pallor, Flushing	ORPHA:2131
Beta-Thalassemia Major	Jaundice, Skin ulcer, Hypoplasia of the musculature, Pallor, Dilated cardiomyopathy	ORPHA:231214
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Dandy-Walker malformation, Lateral ventricle dilatation	ORPHA:3078
Galactokinase Deficiency	Increased level of galactitol in urine, Hepatomegaly, Hepatosplenomegaly	ORPHA:79237
Thanatophoric Dysplasia Type 1	Hydrocephalus, Ventriculomegaly, Gray matter heterotopia	ORPHA:1860
Tangier Disease	Hepatomegaly, Splenomegaly, Left ventricular hypertrophy	OMIM:205400
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Prolonged G2 phase of cell cycle, Agenesis of corpus callosum	OMIM:227646
Niemann-Pick Disease, Type C1	Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno...	OMIM:257220
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Scaling skin, Cutis laxa, Oligohydramnios, Transposition of the great arteries, Muscular ventricu...	OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Hepatomegaly, Ketonuria	OMIM:619053
Hydrocephaly-Low Insertion Umbilicus Syndrome	Anomalous pulmonary venous return, Tetralogy of Fallot, Patent ductus arteriosus	ORPHA:2184
Acrocephalopolydactylous Dysplasia	Enlarged kidney, Hepatomegaly, Cystic renal dysplasia, Ascites, Hepatic fibrosis, Pancreatic fibr...	OMIM:200995
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Generalized limb muscle atrophy, Pallor, Ragged-red muscle fibers, Scapular winging	OMIM:600462
Tyrosinemia, Type I	Elevated urinary delta-aminolevulinic acid, Cirrhosis, Hepatomegaly, Anemia, Enlarged kidney, Glo...	OMIM:276700
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Coarctation of aorta, Abnormal heart morphology, Pallor, Noni...	ORPHA:124
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st...	OMIM:614823
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232220
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal death, Misalignment of the pulmonary veins, Cyanosis, Death in infancy	OMIM:265120
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Diamond-Blackfan Anemia 7	Polyhydramnios, Secundum atrial septal defect, Tetralogy of Fallot, Patent ductus arteriosus, Int...	OMIM:612562
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Macrovesicul...	OMIM:600649
Sepsis In Premature Infants	Purpura, Jaundice, Petechiae, Edema, Pallor, Cyanosis	ORPHA:90051
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Q Fever	Hepatomegaly, Anemia, Lymphadenopathy, Hematuria, Elevated circulating hepatic transaminase conce...	ORPHA:781
Van Der Woude Syndrome 2	Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit	OMIM:606713
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Death in infancy, Abnormality of neuronal migration, Agenesis of corpus callosum,...	OMIM:608836
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colpocephaly, Holoprosenceph...	OMIM:618820
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly, Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Liver Failure, Infantile, Transient	Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Dicarboxylic aciduria, Elevated circula...	OMIM:613070
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Oliguria, Cerv...	ORPHA:514
Infant Acute Respiratory Distress Syndrome	Hypoxemia, Cyanosis, Pulmonary edema	ORPHA:70587
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Ascites, Splenomegaly, Impaired oxid...	OMIM:306400
Encephalopathy, Ethylmalonic	Petechiae, Acrocyanosis, Death in infancy	OMIM:602473
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Skeletal muscle atrophy, Acrocyanosis	ORPHA:2400
Generalized Arterial Calcification Of Infancy	Calcification of the aorta, Hydrops fetalis, Polyhydramnios, Stroke, Ventricular hypertrophy, Tra...	ORPHA:51608
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a...	OMIM:614582
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Polycystic kidney dysplasia, Pancreatic hypoplasia, Cholestasis, Panc...	OMIM:610199
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Macrocephaly/Autism Syndrome	Hepatomegaly, Penile freckling, Splenomegaly, Lymphopenia	OMIM:605309
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Patent foramen ovale, Transposition of the great arteries, Macroglossia	OMIM:616789
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Renal tubular acidosis,...	ORPHA:264580
Periventricular Nodular Heterotopia 7	Polymicrogyria, Choroid plexus cyst, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:617201
Lymphangiectasia, Pulmonary, Congenital	Palpebral edema, Facial edema, Polyhydramnios, Chylothorax, Lymphedema, Pleural effusion, Ascites...	OMIM:265300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Concentric hypertrophic cardiomyopathy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, De...	OMIM:252010
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Periventricular heterotopia, Colpocephaly	ORPHA:261250
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Joubert Syndrome With Hepatic Defect	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Renal insuffici...	ORPHA:1454
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:600901
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Fanconi Anemia, Complementation Group C	Anemic pallor, Flexion contracture, Intrauterine growth retardation, Bruising susceptibility, Ven...	OMIM:227645
Acrocardiofacial Syndrome	Truncus arteriosus, Death in infancy, Camptodactyly of finger, Coarctation of aorta, Mitral steno...	ORPHA:2008
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Hydrocephalus, Polymicrogyria, Gliosis, Dilated third ventricle, Colpocephaly, L...	OMIM:620371
Unilateral Polymicrogyria	Stroke, Abnormal heart morphology, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Carcinoid Syndrome	Hepatic necrosis, Elevated circulating hepatic transaminase concentration, Chronic noninfectious ...	ORPHA:100093
Acquired Purpura Fulminans	Macular purpura, Acrocyanosis, Intracranial hemorrhage, Pyoderma gangrenosum	ORPHA:49566
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Dextrotransposition of the great arteries, Ventricular septal defect	OMIM:619995
Majeed Syndrome	Hepatomegaly, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria, Splenomegaly, P...	ORPHA:77297
Tarp Syndrome	Tetralogy of Fallot, Persistent left superior vena cava, Atrial septal defect, Cyanosis, Intraute...	ORPHA:2886
Van Der Woude Syndrome	Abnormal salivary gland morphology, Cleft upper lip, Cleft palate, Hypodontia, Lower lip pit, Lip...	ORPHA:888
Fanconi-Bickel Syndrome	Hepatomegaly, Generalized aminoaciduria, Increased hepatic glycogen content, Renal tubular acidos...	ORPHA:2088
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Stroke, Cardiomyopathy, Upper limb muscle weaknes...	ORPHA:892
Poems Syndrome	Pleural effusion, Ascites, Pericardial effusion, Acrocyanosis, Edema, Plethora	ORPHA:2905
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Nonimmune hydr...	OMIM:153400
Mcleod Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Splenomegaly, Elevated...	OMIM:300842
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Jaundice, Hepatomegaly, Polycystic kidney dysplasia, Multiple renal cysts, Hepatic cysts, Stage 5...	OMIM:613095
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hepatic ste...	OMIM:261680
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Dandy-Walker malformation, Spina bifida, Abnormality ...	ORPHA:2671
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyperglycinuria, Elevated ...	OMIM:201450
Tay-Sachs Disease	Pallor, Cherry red spot of the macula	OMIM:272800
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:227650
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Polymicrogyria, Lobar holoprosencephaly, Simplified gyral pattern, Pachygyria, Agenesis of corpus...	ORPHA:468631
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Nonimmune hydrops fetalis, Dysplastic tricuspid valve, Bicuspid aortic valve, Misalignment of the...	OMIM:265380
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:214950
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Oliguria, Abnormal intr...	ORPHA:731
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia	OMIM:618394
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Encephalocele, Polymicrogyria, Abnormality of neuronal migration, Pac...	ORPHA:2211
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Splenomegaly, Pulmonary lymph...	OMIM:235255
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Intrauterine growth retardation, Perimembranous ventricular septal defect, Contracture of the dis...	ORPHA:83617
Cone-Rod Dystrophy 8	Pallor, Retinal arteriolar constriction	OMIM:605549
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Gliosis, Lateral ventricle dilatation	OMIM:607485
6Q Terminal Deletion Syndrome	Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Colpocephaly, Periven...	ORPHA:75857
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrioventricular canal defect, Aortic valve stenosis, Tetralogy of Fallo...	ORPHA:210122
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Congenital Myasthenic Syndrome	Distal lower limb muscle weakness, Cyanosis, Polyhydramnios, Frontalis muscle weakness, Distal am...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Distal lower limb muscle weakness, Cyanosis, Polyhydramnios, Frontalis muscle weakness, Distal am...	ORPHA:98914
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri...	ORPHA:2255
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Macrovesicular hepatic steatosis, Microvesicular hepatic steatosis, Elevated circul...	OMIM:615595
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Pulmonary Alveolar Microlithiasis	Calcification of the aorta, Mitral valve calcification, Hypoxemia, Peripheral edema, Cyanosis, Ox...	ORPHA:60025
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ren...	OMIM:255120
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Coarctation of aorta, Pallor, Intrauterine growth retardation, Atrial septal ...	OMIM:105650
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Pediatric Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Lymphopenia, Ascites, Nephrotic syndrome, Nephritis, Thrombocytopenia...	ORPHA:93552
Alg9-Cdg	Atrial septal defect, Hydrops fetalis, Torticollis, Abnormal left ventricular outflow tract morph...	ORPHA:79328
Hurler-Scheie Syndrome	Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Dermatan sulfate excretion in urine	OMIM:607015
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Splenomegaly, Right ventricular hypertrophy	OMIM:616028
Kikuchi-Fujimoto Disease	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circulating hepat...	ORPHA:50918
Autoinflammation With Arthritis And Dyskeratosis	Autoimmune hemolytic anemia, Hypereosinophilia, Hepatomegaly, Splenomegaly	OMIM:617388
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Stroke, Se...	ORPHA:1478
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Dicarboxylic aciduria, Elevated circulating hepatic transaminase concentration, Ele...	OMIM:605911
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Gray matter heterotopia	OMIM:615960
Microphthalmia, Syndromic 2	Dextrocardia, Hypoplastic aortic arch, Contracture of the proximal interphalangeal joint of the 2...	OMIM:300166
Hyperparathyroidism, Neonatal Severe	Polyuria, Hepatomegaly, Anemia, Hypercalciuria, Hyperphosphaturia, Splenomegaly, Aminoaciduria	OMIM:239200
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Periventricular heterotopia	OMIM:618974
Multiple Mitochondrial Dysfunctions Syndrome 7	Cyanosis, Partial atrioventricular canal defect	OMIM:620423
Ververi-Brady Syndrome	Intrauterine growth retardation, Transposition of the great arteries	OMIM:617982
Meckel Syndrome, Type 5	Occipital encephalocele, Anencephaly, Bile duct proliferation, Cleft upper lip, Cleft palate	OMIM:611561
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Ischemic stroke, Spinal arteriovenous malformation, Lip telangiectasia, Di...	OMIM:610655
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Primary Sclerosing Cholangitis	Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal...	ORPHA:171
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Hydrocephalus, Ventriculomegaly, Dilated third ventricle	ORPHA:500055
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Pancreatic lymphangiectasis, Ascites, Hydronephrosis, Hepatosplenomegaly, Splenomeg...	ORPHA:1655
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Tetralogy of Fallot, Intrau...	ORPHA:1780
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Coarctation of aorta, Tetralogy of Fallot, Patent ductus arteriosus, Ventricu...	OMIM:600460
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Peroxisome Biogenesis Disorder 1B	Cirrhosis, Hepatomegaly, Hyperoxaluria, Renal cyst, Hepatic fibrosis	OMIM:601539
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Cleft palate, Ankyloglossia	OMIM:303400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Transposition of the great arteries, Calf muscle hypertrophy, Pulmonic stenos...	OMIM:253800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Colpocephaly, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	OMIM:620113
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperphosphatu...	OMIM:616026
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Hematuria, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neu...	ORPHA:520
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Flushing, Cerebral hemorrhage	ORPHA:276621
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Orofaciodigital Syndrome I	Abnormal cortical gyration, Hydrocephalus, Hypothalamic hamartoma, Gray matter heterotopia, Myelo...	OMIM:311200
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Opitz-Kaveggia Syndrome	Hydrocephalus, Gray matter heterotopia, Partial agenesis of the corpus callosum	OMIM:305450
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Ventriculomegaly, Decreased response to growth hormone stimulation test, Colpocephaly, Agenesis o...	OMIM:617260
Beta-Ketothiolase Deficiency	Edema, Pallor, Dehydration	ORPHA:134
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Dermatomyositis	Myocarditis, Facial erythema, Skin ulcer, V-sign, Inflammatory myopathy, Myositis, Vasculitis, Cu...	ORPHA:221
Acromelic Frontonasal Dysostosis	Encephalocele, Choroid plexus cyst, Gray matter heterotopia, Agenesis of corpus callosum, Hypopit...	OMIM:603671
Gray Platelet Syndrome	Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules	OMIM:139090
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Dehydration	OMIM:246450
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Splenomegaly, Pancytopenia	OMIM:231005
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Hydrolethalus Syndrome 1	Stillbirth, Abnormal cortical gyration, Anencephaly, Dandy-Walker malformation, Gray matter heter...	OMIM:236680
Tetrasomy 5P	Redundant neck skin, Cyanosis, Aplasia/Hypoplasia of the abdominal wall musculature	ORPHA:3309
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Ventriculomegaly, Decreased response to growth hormone sti...	ORPHA:1855
Niemann-Pick Disease, Type C2	Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi...	OMIM:607625
Hypermanganesemia With Dystonia 1	Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:613280
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Interstitial Lung And Liver Disease	Cirrhosis, Hepatomegaly, Anemia, Cholestasis, Elevated circulating alanine aminotransferase conce...	OMIM:615486
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Hypochromic microcytic anemia, B lymphocytopenia, Sideroblastic anemia, Nephrocalcinosis, Splenom...	OMIM:616084
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Pleural empyema, Generalized edema, Edema, Pallor	ORPHA:544482
Kleefstra Syndrome Due To 9Q34 Microdeletion	Macroglossia, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, Conotruncal defec...	ORPHA:96147
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Minimal change glomerulonephritis, Leukocytosis, Neutr...	OMIM:620565
Lymphatic Filariasis	Lymphangiectasis, Hematuria, Lymphadenopathy, Urethral obstruction, Abnormality of the lymphatic ...	ORPHA:2035
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Ethylmalonic Encephalopathy	Petechiae, Acrocyanosis	ORPHA:51188
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Bruising susceptibility, Pallor, Abnormal pulmonary valve morphology	ORPHA:667
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Foam cells	ORPHA:747
Multiple Myeloma	Acute kidney injury, Anemia, Lymphadenopathy, Nephrotic syndrome, Splenomegaly, Nephropathy	ORPHA:29073
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Chronic Thromboembolic Pulmonary Hypertension	Edema, Right ventricular dilatation, Hypocapnia, Right atrial enlargement	ORPHA:70591
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Dilatation of celiac artery, Arteriovenous fistul...	OMIM:187300
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Joint contracture of the 5th finger	OMIM:614407
Hardikar Syndrome	Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b...	OMIM:301068
Irida Syndrome	Pallor	ORPHA:209981
Slc35A2-Cdg	Dandy-Walker malformation, Lateral ventricle dilatation	ORPHA:356961
Basel-Vanagaite-Smirin-Yosef Syndrome	Agenesis of corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:464738
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Degcags Syndrome	Premature graying of hair, Polyhydramnios, Dysplastic pulmonary valve, Patent foramen ovale, Pulm...	OMIM:619488
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Hutchinson-Gilford Progeria Syndrome	Generalized abnormality of skin, Abnormal aortic valve morphology, Premature skin wrinkling, Stro...	ORPHA:740
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure	ORPHA:97287
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Carpenter Syndrome 1	Transposition of the great arteries, Camptodactyly, Pulmonic stenosis, Tetralogy of Fallot, Paten...	OMIM:201000
Aicardi-Goutières Syndrome	Moyamoya phenomenon, Calcification of the aorta, Aortic aneurysm, Myositis, Dry skin, Hypertrophi...	ORPHA:51
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Mesocardia, Partial anomalous pulmonary venous return, Dextrocar...	OMIM:618280
Igg4-Related Kidney Disease	Decreased liver function, Enlarged kidney, Sclerosing cholangitis, Cholecystitis, Urinary bladder...	ORPHA:449395
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Stillbirth, Abnormal cortical gyration, Death in childhood, Hydrocephalus, Polymicrogyria, Microl...	OMIM:210710
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Ascites, Nephrotic syndrome, Nephrocalcinosis, Acute...	ORPHA:342
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Meckel Syndrome, Type 6	Occipital encephalocele, Anencephaly, Bile duct proliferation, Cleft upper lip, Cleft palate, Cys...	OMIM:612284
Orofaciodigital Syndrome Vi	Polymicrogyria, Hypothalamic hamartoma, Occipital meningocele, Agenesis of corpus callosum, Periv...	OMIM:277170
Combined Oxidative Phosphorylation Defect Type 39	Lateral ventricle dilatation	ORPHA:565624
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Mixed-Type Autoimmune Hemolytic Anemia	Pallor	ORPHA:90036
Bohring-Opitz Syndrome	Dandy-Walker malformation, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:605039
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Neuroblastoma	Elevated urinary catecholamine level, Anemia, Lymphadenopathy, Elevated urinary vanillylmandelic ...	ORPHA:635
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Pallor, Distal amyotrophy	OMIM:617675
Immunodeficiency 92	Hepatomegaly, Cholangitis, Sclerosing cholangitis, Decreased proportion of class-switched memory ...	OMIM:619652
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Jaundice, Hepatomegaly, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:608885
H Syndrome	Enlarged kidney, Lymphadenopathy, Hepatosplenomegaly, Micropenis, Histiocytosis, Microcytic anemia	ORPHA:168569
Lymphoid Interstitial Pneumonia	Enlarged kidney, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:79128
Argininemia	Hepatomegaly, Portal fibrosis, Reduced erythrocyte arginase activity, Oroticaciduria, Cholestasis...	OMIM:207800
Letterer-Siwe Disease	Pallor, Jaundice	OMIM:246400
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Splenomegaly, Hepatomegaly	OMIM:612852
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Increased mean pl...	ORPHA:84064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi...	ORPHA:186
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Iron deficiency anemia,...	ORPHA:100078
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Biotinidase Deficiency	Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polymicrogyria, Death in adolescence, Death in infancy, Colpocephaly, Agenesis of corpus callosum...	OMIM:614866
Triosephosphate Isomerase Deficiency	Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch...	OMIM:615512
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Classical Ehlers-Danlos Syndrome	Tricuspid valve prolapse, Blepharochalasis, Aortic root aneurysm, Arteriovenous fistula, Acrocyan...	ORPHA:287
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Neutral Lipid Storage Disease With Myopathy	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Sple...	OMIM:610717
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Flushing, Cerebral hemorrhage	ORPHA:29072
Congenital Syphilis	Pancreatitis, Anemia, Lymphadenopathy, Nephrotic syndrome, Prolonged neonatal jaundice, Hepatospl...	ORPHA:499009
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemolytic anemia	OMIM:153670
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici...	ORPHA:37042
Pearson Marrow-Pancreas Syndrome	Hydrops fetalis, Death in childhood, Dehydration, Pallor, Erythema	OMIM:557000
Polycythemia Vera	Acute leukemia, Hepatomegaly, Leukocytosis, Portal hypertension, Portal vein thrombosis, Polycyth...	ORPHA:729
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Postinfectious Vasculitis	Ischemic stroke, Palpable purpura, Vascular dilatation, Bacterial endocarditis, Cardiomyopathy, V...	ORPHA:48435
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
Mosaic Trisomy 1	Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation	ORPHA:1692
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Distal Deletion 10Q	Spina bifida occulta, Lateral ventricle dilatation	ORPHA:96148
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Patent foramen ovale, Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, R...	OMIM:300967
Glycogen Storage Disease Ia	Enlarged kidney, Hepatomegaly, Pancreatitis, Decreased glomerular filtration rate, Elevated circu...	OMIM:232200
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:572798
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Hereditary Folate Malabsorption	Pallor, Skeletal muscle atrophy	ORPHA:90045
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Neonatal death, Cyanosis, Death in infancy	OMIM:610921
Reynolds Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil...	OMIM:613471
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis	OMIM:250800
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Patent duct...	OMIM:313850
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Limb hypertonia	OMIM:619580
Holoprosencephaly	Encephalocele, Anterior hypopituitarism, Hydrocephalus, Dandy-Walker malformation, Panhypopituita...	ORPHA:2162
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Carney Triad	Lymphadenopathy, Ascites, Mediastinal lymphadenopathy, Anemia	ORPHA:139411
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Wilson Disease	Portal fibrosis, Ascites, Acute hepatic failure, Splenomegaly, Hepatic steatosis, Jaundice, Hepat...	OMIM:277900
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Red urine, Cholelithiasis, Thrombocytopenia, Splenomegaly, Pink urine, Re...	OMIM:263700
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Episodic hemolytic anemia, Reticulocytosis, Th...	OMIM:210250
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Polymicrogyria, Dandy-Walker malformation, Holoprosencephaly, Simplified...	OMIM:615948
Hennekam Syndrome	Lymphadenopathy, Ectopic kidney, Ascites, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia,...	ORPHA:2136
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Nephrotic syndrome, Neutrophilia, Splenomegaly, Peritonitis, Stage 5 ...	OMIM:249100
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Refractory Anemia With Excess Blasts	Anemic pallor, Pedal edema	ORPHA:86839
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Hypop...	OMIM:618748
Cystic Fibrosis	Cirrhosis, Hepatomegaly, Pancreatitis, Hypercalciuria, Biliary cirrhosis, Hepatosplenomegaly, Exo...	OMIM:219700
Peroxisome Biogenesis Disorder 13A (Zellweger)	Polymicrogyria, Neonatal death, Gray matter heterotopia	OMIM:614887
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Telangiectasia, Hereditary Hemorrhagic, Type 2	Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cerebral arterioveno...	OMIM:600376
Chime Syndrome	Pulmonary valve atresia, Transposition of the great arteries, Skin ulcer, Tetralogy of Fallot, Ve...	ORPHA:3474
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Lymphangioleiomyomatosis	Hematuria, Lymphadenopathy, Abnormality of the lymphatic system, Ascites, Multiple renal cysts, P...	ORPHA:538
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Lateral ventricle dilatation	ORPHA:457279
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Fructose-1,6-Bisphosphatase Deficiency	Pallor	ORPHA:348
Den Hoed-De Boer-Voisin Syndrome	Ventriculomegaly, Death in adolescence, Lateral ventricle dilatation	OMIM:619229
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
Neu-Laxova Syndrome 1	Stillbirth, Transposition of the great arteries, Polyhydramnios, Patent foramen ovale, Camptodact...	OMIM:256520
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Coffin-Lowry Syndrome	Ventriculomegaly, Abnormality of neuronal migration, Death in early adulthood	ORPHA:192
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Oroticaciduria, Leukopenia, Splenomegaly, T...	OMIM:222700
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Igg4-Related Submandibular Gland Disease	Cholangitis, Abnormal pancreas morphology, Lymphadenopathy, Renal insufficiency, Eosinophilia, Re...	ORPHA:449432
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Ethylene Glycol Poisoning	Cerebral edema, Cyanosis, Facial palsy, Pulmonary edema	ORPHA:31826
Brucellosis	Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Leukocytosis, Leukopenia, Splenomegaly, Thr...	ORPHA:1304
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Orofaciodigital Syndrome Type 14	Dandy-Walker malformation, Dilated third ventricle, Dilated fourth ventricle, Periventricular het...	ORPHA:434179
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Reticuloc...	OMIM:618278
Autosomal Recessive Spastic Paraplegia Type 11	Lateral ventricle dilatation, Hypothalamic atrophy	ORPHA:2822
Phace Syndrome	Abnormal carotid artery morphology, Aortic root aneurysm, Coarctation of aorta, Abnormal heart mo...	ORPHA:42775
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Primary Hyperoxaluria	Cutis marmorata, Cardiomyopathy, Acrocyanosis	ORPHA:416
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Cholestasis, Ascite...	OMIM:619573
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Anemia, Lymphadenop...	ORPHA:797
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenomegaly, Aminoaci...	OMIM:617913
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:608594
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Ventriculomegaly, Small pituitary gland, Lateral ventricle dilatation	OMIM:619479
Autoinflammatory Disease, Systemic, With Vasculitis	Jaundice, Hepatomegaly, Anemia, Increased B cell count, Cholestasis, Increased T cell count, Leuk...	OMIM:620376
Pagod Syndrome	Encephalocele, Meningocele, Death in infancy, Spina bifida, Abnormality of neuronal migration	ORPHA:991
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation, Death in infancy	OMIM:615485
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Periventricular heterotopia	OMIM:618870
Aicardi-Goutieres Syndrome 7	Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Nephrotic syndrome, Thrombocytopenia, Splenomegaly...	OMIM:615846
Asparagine Synthetase Deficiency	Dilated fourth ventricle, Ventriculomegaly, Dilated third ventricle, Simplified gyral pattern	OMIM:615574
Khan-Khan-Katsanis Syndrome	Ventriculomegaly, Colpocephaly	OMIM:618460
Adenohypophysitis	Pallor	ORPHA:95512
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Gray matter heterotopia, Neonatal death, Pachygyria, Ventriculomegaly	OMIM:620024
Gaucher Disease Type 3	Hepatomegaly, Anemia, Hematuria, Pancytopenia, Thrombocytopenia, Splenomegaly, Proteinuria	ORPHA:77261
Cardiogenic Shock	Edema, Hypoxemia, Cyanosis	ORPHA:97292
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, Tubulointerstitial fibrosis, T lymphocytopenia, Lymphopenia, Autoimmune thromboc...	OMIM:607944
Smith-Lemli-Opitz Syndrome	Hydrocephalus, Dandy-Walker malformation, Death in infancy, Colpocephaly, Holoprosencephaly, Peri...	OMIM:270400
Panhypophysitis	Pallor	ORPHA:95513
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Edema, Anemic pallor	ORPHA:329971
Malakoplakia	Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Proteinuria, Follicular hyperplasia, Urin...	ORPHA:556
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Acute pancreati...	OMIM:269700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation	OMIM:263520
Van Maldergem Syndrome 1	Gray matter heterotopia, Simplified gyral pattern, Pachygyria, Subcortical band heterotopia, Peri...	OMIM:601390
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Sheehan Syndrome	Pallor, Dry skin	ORPHA:91355
Coccidioidomycosis	Mediastinal lymphadenopathy, Pancreatitis, Lymphadenopathy, Abnormality of the spleen, Peritoniti...	ORPHA:228123
Orofaciodigital Syndrome Xvi	Ventriculomegaly, Gray matter heterotopia	OMIM:617563
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Pituitary Apoplexy	Pallor	ORPHA:95613
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Splenomegaly, Peritonitis	ORPHA:32960
Incontinentia Pigmenti	Pallor, Erythema	OMIM:308300
Prolactinoma	Pallor	ORPHA:2965
Choanal Atresia	Cyanosis	ORPHA:137914
Leptospirosis	Acute kidney injury, Jaundice, Hepatomegaly, Lymphadenopathy, Cellular urinary casts, Thrombocyto...	ORPHA:509
Restrictive Dermopathy	Scaling skin, Transposition of the great arteries, Polyhydramnios, Dextrocardia, Multiple joint c...	ORPHA:1662
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Hypercalciuria, Splenomegaly, Generalize...	OMIM:181000
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Doors Syndrome	Double outlet right ventricle, Polyhydramnios	ORPHA:79500
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Galloway-Mowat Syndrome 1	Ventriculomegaly, Abnormality of neuronal migration, Dandy-Walker malformation, Pachygyria	OMIM:251300
Hyperoxaluria, Primary, Type I	Cutis marmorata, Dehydration, Peripheral arterial stenosis, Acrocyanosis	OMIM:259900
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Primary Triglyceride Deposit Cardiomyovasculopathy	Vacuolated lymphocytes, Hepatomegaly, Pancreatitis, Splenomegaly	ORPHA:565612
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Hematuria, Pancytopenia, Acute pancreatitis, Leukocytosi...	ORPHA:99827
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Decreased glomerular filtration rate, Hematuria, Hepatocellul...	OMIM:232240
Arima Syndrome	Dilated fourth ventricle, Occipital meningocele, Gray matter heterotopia	OMIM:243910
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100079
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Colpocephaly	ORPHA:477993
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Gray matter heterotopia	ORPHA:26791
Peroxisome Biogenesis Disorder 1A (Zellweger)	Polymicrogyria, Subependymal cysts, Death in childhood, Gray matter heterotopia	OMIM:214100
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Hypermobile Ehlers-Danlos Syndrome	Venous insufficiency, Aortic root aneurysm, Acrocyanosis, Ascending tubular aorta aneurysm, Arter...	ORPHA:285
Surfactant Metabolism Dysfunction, Pulmonary, 2	Hypoxemia, Cyanosis	OMIM:610913
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:619869
Prader-Willi Syndrome Due To Translocation	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Lateral ven...	ORPHA:177907
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Blau Syndrome	Anemia, Lymphadenopathy, Splenomegaly, Abnormality of the liver, Stage 5 chronic kidney disease, ...	ORPHA:90340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Fructose Intolerance, Hereditary	Bicarbonaturia, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:229600
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Gliosis, Lateral ventricle dilatation, Death in infancy	OMIM:300868
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Koolen-De Vries Syndrome	Ventriculomegaly, Gray matter heterotopia	OMIM:610443
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Pallor, Proximal amyotrophy	ORPHA:653
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Weakness of facial musculature, Knee flexion contracture	OMIM:617239
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomegaly, Renal cortical cysts, Vesicoureteral reflux, Nephrol...	OMIM:130650
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Cyanosis, Death in infancy	OMIM:618426
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:352665
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Miller-Dieker Lissencephaly Syndrome	Lissencephaly, Agyria, Gray matter heterotopia, Pachygyria	OMIM:247200
Fontaine Progeroid Syndrome	Hydrocephalus, Gray matter heterotopia, Death in infancy, Neonatal death, Periventricular heterot...	OMIM:612289
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventriculomegaly, Gray matter heterotopia	OMIM:620654
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventriculomegaly, Abnormality of neuronal migration, Posterior pituitary hypoplasia	ORPHA:464311
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Van Maldergem Syndrome 2	Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:615546
Systemic Lupus Erythematosus	Hematuria, Lymphadenopathy, Pyuria, Thrombocytopenia, Leukopenia, Proteinuria, Hemolytic anemia, ...	ORPHA:536
Genitopatellar Syndrome	Agenesis of corpus callosum, Periventricular heterotopia, Colpocephaly, Pachygyria	OMIM:606170
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocy...	OMIM:256040
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Gliosis, Lateral ventricle dilatation, Ven...	OMIM:615873
Vater/Vacterl Association	Transposition of the great arteries, Tetralogy of Fallot, Patent ductus arteriosus, Intrauterine ...	OMIM:192350
Behçet Disease	Lymphadenopathy, Pancreatitis, Splenomegaly, Renal insufficiency	ORPHA:117
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation	OMIM:147920
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Chromosome 1P36 Deletion Syndrome, Distal	Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Lateral ventricle dilatation	OMIM:607872
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy, Tubulointerstitial nephritis	ORPHA:79078
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Ectopic posterior pituitary, Perisylvian predominant thick cor...	ORPHA:98889
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449563
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis	OMIM:223900
Carpenter Syndrome 2	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Knee flexion contractu...	OMIM:614976
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Dysplastic corpus callosum, Polymicrogyria, Progressive ventriculomegaly, Simplified gyral patter...	ORPHA:500150
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Urinary incontinence, Hepatosplenomegaly, Splenomegaly, ...	ORPHA:3385
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Pallor	OMIM:253280
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Plague	Lymphadenitis, Enlarged mesenteric lymph node, Splenomegaly, Hepatomegaly	ORPHA:707
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Transposition of the great arteries, Polyhydramnios, Facial hypo...	OMIM:312870
Goodpasture Syndrome	Pallor, Cyanosis	OMIM:233450
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Decreased eosinophil count, Leukocytos...	ORPHA:99889
Periventricular Nodular Heterotopia 9	Polymicrogyria, Periventricular nodular heterotopia, Gray matter heterotopia	OMIM:618918
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology	ORPHA:353277
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cyanosis	ORPHA:293987
Biliary, Renal, Neurologic, And Skeletal Syndrome	Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasia, Neonatal death, Lateral ventri...	OMIM:619534
Nijmegen Breakage Syndrome	Abnormality of neuronal migration	ORPHA:647
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Dilated third ventricle	ORPHA:314404
Coffin-Lowry Syndrome	Cutis laxa, Cutis marmorata, Acrocyanosis	OMIM:303600
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilat...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Agenesis of corpus callosum, Periventricular heterotopia, Lateral ventricle dilat...	ORPHA:261552
Mowat-Wilson Syndrome	Polymicrogyria, Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:2152
Proteus Syndrome	Gray matter heterotopia	ORPHA:744
Microcephaly 18, Primary, Autosomal Dominant		OMIM:617520

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 Wdfy3

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Wdfy3.

There are 3 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Beyond autophagy: a novel role for autism-linked Wdfy3 in brain mitophagy.	Scientific reports (July 2018)	Wdfy3^{tm1a(KOMP)Mbp}	PMC6063930
Autophagy-linked FYVE containing protein WDFY3 interacts with TRAF6 and modulates RANKL-induced osteoclastogenesis.	Journal of autoimmunity (June 2016)	Wdfy3^{tm1a(KOMP)Mbp} Wdfy3^{tm1c(KOMP)Mbp}	PMC5003737
Loss of Wdfy3 in mice alters cerebral cortical neurogenesis reflecting aspects of the autism pathology.	Nature communications (September 2014)	Wdfy3^{tm1a(KOMP)Mbp} Wdfy3^{tm1c(KOMP)Mbp}	PMC4159772

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Wdfy3^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Wdfy3^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Wdfy3^{tm1a(KOMP)Mbp}	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: Wdfy3 MGI:1096875

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Wdfy3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data