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

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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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MicroCT E14.5-E15.5

Embryo reconstruction

3 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 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 (1302 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	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Chudley-Mccullough Syndrome	Ventriculomegaly, Polymicrogyria, Dysplastic corpus callosum, Hydrocephalus, Gray matter heteroto...	OMIM:604213
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Lissencephaly, X-Linked, 1	Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse...	OMIM:300067
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Tricuspid Atresia	Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist...	ORPHA:1209
Sub-Cortical Nodular Heterotopia	Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia, Agenesis of corpus ca...	ORPHA:101029
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly, 3-Methylglutaconic aciduria	OMIM:619813
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri...	OMIM:620135
Band Heterotopia	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydr...	OMIM:600348
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	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Tyrosinemia Type 1	Generalized aminoaciduria, Acute hepatic failure, Splenomegaly, Hepatomegaly, Hepatocellular carc...	ORPHA:882
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Lymphedema, Oligohydramnios, Ventricular septal defect, Overriding aorta, Atrial septal defect, H...	OMIM:601927
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Agenesis of corpus callosum, Pachygyria, Agy...	OMIM:611603
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Lissencephaly, Agenesis of corpus callosum	OMIM:614019
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration, Ventriculomegaly, Hydrocephalus	OMIM:618709
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly	OMIM:606445
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Cardiac Septal Defects With Coarctation Of The Aorta	Coarctation of aorta, Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100024
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Tetralogy of Fallot, Cyanosis, Persistent left superior vena cava, Overriding aorta, Double outle...	ORPHA:3304
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:615411
Congenital Hydrocephalus	Ventriculomegaly, Abnormal cortical gyration, Colpocephaly, Hydrocephalus, Lissencephaly	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	Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ...	OMIM:616217
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death...	OMIM:618845
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemoglobin, Splenomegaly, Erythroc...	OMIM:603902
Congenital Disorder Of Glycosylation, Type Ih	Ascites, Intrauterine growth retardation, Oligohydramnios, Death in infancy, Neonatal death, Peri...	OMIM:608104
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Long Qt Syndrome 16	Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect	OMIM:618782
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Bicus...	ORPHA:1457
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Genitopalatocardiac Syndrome	Right aortic arch, Transposition of the great arteries, Double outlet right ventricle, Ventricula...	OMIM:231060
Cholestasis, Progressive Familial Intrahepatic, 11	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:619874
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei...	OMIM:613854
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ascites, Intrauterine growth retardation, Oligohydramnios, Nonimmune hydrops fetalis, Ventricular...	OMIM:617021
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Hepatomega...	OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein...	OMIM:620010
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Lissencephaly 1	Pachygyria, Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly	OMIM:607432
Congenital Heart Block	Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P...	ORPHA:60041
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Erythroleukemia, Familial, Susceptibility To	Leukemia, Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, ...	OMIM:133180
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertension, Splen...	OMIM:617068
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Hepatomegaly, Fetal ascites, Splenomegaly	OMIM:619462
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Abnormal heart morphology, Foot dorsiflexor weakness, Patent foramen ovale, Ve...	ORPHA:477817
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He...	OMIM:615285
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly, Aminoaciduria	ORPHA:417
Alpha-Heavy Chain Disease	Ascites, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:100025
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hepatomegaly	ORPHA:79281
Sea-Blue Histiocyte Disease	Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega...	OMIM:269600
Galactose Epimerase Deficiency	Hepatomegaly, Jaundice, Splenomegaly, Aminoaciduria	ORPHA:79238
Peroxisome Biogenesis Disorder 6A (Zellweger)	Pachygyria, Colpocephaly, Neonatal death	OMIM:614870
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
Galactosemia Iii	Aminoaciduria, Galactosuria, Splenomegaly, Hepatomegaly, Jaundice	OMIM:230350
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly	OMIM:610293
Congenital Gerbode Defect	Bacterial endocarditis, Peripheral edema, Ventricular septal defect, Constrictive pericarditis, P...	ORPHA:99095
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly	OMIM:615593
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Trimethylaminuria	Anemia, Trimethylaminuria, Splenomegaly, Neutropenia	OMIM:602079
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Ventriculomegaly, Enlarged sylvian cistern, Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly	OMIM:607685
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Microlissencephaly	Polymicrogyria, Periventricular heterotopia, Pachygyria, Subcortical heterotopia, Lissencephaly, ...	ORPHA:1083
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Intrauterine growth retardation, Oligohydramnios,...	OMIM:617022
Immunodeficiency 42	Hepatomegaly, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Congenital Bile Acid Synthesis Defect Type 1	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	ORPHA:79301
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Ceroid storage disease	Abnormality of the spleen, Hepatic failure	OMIM:214200
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Wolman Disease	Acute hepatic failure, Hepatomegaly, Splenomegaly	OMIM:620151
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Cyanosis, Myopathy	ORPHA:91130
Burkitt Lymphoma	Abnormal lymph node morphology, Abnormality of the spleen, Abnormality of the liver, Decreased pr...	ORPHA:543
Central Neurocytoma	Abnormal lateral ventricle morphology, Hydrocephalus	ORPHA:73256
Splenoportal Vascular Anomalies	Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system	OMIM:271500
Cardiomyopathy, Dilated, 1Gg	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:613642
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu...	OMIM:616749
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Amyloidosis, Hereditary Systemic 2	Nephropathy, Cholestasis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syndrome	OMIM:105200
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Holoprosencephaly 5	Alobar holoprosencephaly, Semilobar holoprosencephaly, Lateral ventricle dilatation, Syntelenceph...	OMIM:609637
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin	ORPHA:231393
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Hydrocephalus, Gray matter heterotopia	ORPHA:352682
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619658
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Glomerulonephritis, Lymphade...	OMIM:619375
Subependymal Nodular Heterotopia	Occipital encephalocele, Polymicrogyria, Myelomeningocele, Abnormality of neuronal migration, Men...	ORPHA:101030
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal aortic arch morphology, Overriding aorta, Arteriovenous malformation, Intrauterine growt...	ORPHA:1110
Cold Agglutinin Disease	Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Microcytic anemia, Splenomegaly, Abnormal hemoglobin	ORPHA:231242
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Galactosemia Iv	Hepatomegaly, Prolonged neonatal jaundice	OMIM:618881
Red Cell Phospholipid Defect With Hemolysis	Reticulocytosis, Splenomegaly, Intermittent jaundice	OMIM:179700
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Cyanosis, Dea...	OMIM:617478
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Lymphocytosis, Neutropenia, Monocyt...	OMIM:614470
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta...	OMIM:619849
Bile Acid Synthesis Defect, Congenital, 5	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Porta...	OMIM:616278
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Pallor, Atrial septal defect, Ventricular septal defect	ORPHA:49827
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	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	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Neonatal cholestatic liver disease, Sple...	OMIM:214900
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Congenital Pulmonary Lymphangiectasia	Ascites, Pleural effusion, Cyanosis, Hydrops fetalis, Chylopericardium, Pulmonic stenosis	ORPHA:2414
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial...	OMIM:613426
Polymicrogyria Due To Tubb2B Mutation	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Pachygyria, Gray matte...	ORPHA:300573
Left Ventricular Noncompaction 10	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615396
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Cholestasis, Progressive Familial Intrahepatic, 10	Portal fibrosis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Ele...	OMIM:619868
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Secundum atrial septal defect, Ventricular septal defect, Coarctation of aorta, Perimembranous ve...	OMIM:600987
Combined Saposin Deficiency	Hepatomegaly, Splenomegaly	OMIM:611721
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Recombinant Chromosome 8 Syndrome	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Double outlet righ...	OMIM:179613
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Cyanosis, Transposi...	ORPHA:1461
Progressive Familial Intrahepatic Cholestasis	Cholestasis, Hepatomegaly, Jaundice, Splenomegaly	ORPHA:172
Granulomatous Slack Skin	Acute kidney injury, Nephrocalcinosis, Abnormal lymph node morphology	ORPHA:33111
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Intrauterine growth retardati...	OMIM:220210
Sclerosing Cholangitis, Neonatal	Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Cholestasis, Asci...	OMIM:617394
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ...	ORPHA:3384
Cholestasis-Lymphedema Syndrome	Portal hypertension, Splenomegaly, Neonatal cholestatic liver disease, Biliary tract abnormality,...	ORPHA:1414
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Portal inflamm...	OMIM:602347
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Right aortic arch, Patent foramen ovale, Cardiomegaly, Persistent left su...	OMIM:620642
Hemochromatosis, Type 2B	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Anemia, ...	OMIM:613313
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	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	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Double Outlet Right Ventricle	Hypoplastic left heart, Tetralogy of Fallot, Cyanosis, Truncus arteriosus, Ventricular septal def...	ORPHA:3426
Sandestig-Stefanova Syndrome	Muscular ventricular septal defect, Intrauterine growth retardation, Perimembranous ventricular s...	OMIM:618804
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor, Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Anemia, Congenital Dyserythropoietic, Type Ii	Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice	OMIM:224100
Whim Syndrome 2	Tetralogy of Fallot	OMIM:619407
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Ventriculomegaly, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Alaninuria, Elevated...	OMIM:615158
Hb Bart'S Hydrops Fetalis	Oligohydramnios, Pallor, Polyhydramnios, Hydrops fetalis, Pericarditis	ORPHA:163596
Polycystic Kidney Disease 5	Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Stage 5 chronic kidney diseas...	OMIM:617610
Immunodeficiency 84	Splenomegaly, B lymphocytopenia	OMIM:619437
Sandhoff Disease	Hepatomegaly, Splenomegaly	ORPHA:796
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618495
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Lissencephaly 5	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Gray matter heterotopia, Subcortic...	OMIM:615191
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Coproporphyria, Hereditary	Elevated urinary coproporphyrin level, Elevated urinary delta-aminolevulinic acid, Increased urin...	OMIM:121300
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Pulmonic stenosis	OMIM:618205
Left Ventricular Noncompaction 8	Left ventricular noncompaction, Dilated cardiomyopathy	OMIM:615373
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Splenomegaly, De...	OMIM:617514
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis	OMIM:617877
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Cyanosis, Patent foramen ovale, Cardiomegaly, Atrial septal d...	ORPHA:439
Tetralogy Of Fallot	Tetralogy of Fallot	OMIM:187500
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Splenomegaly, Hepatomegaly	OMIM:616719
Craniotelencephalic Dysplasia	Lissencephaly, Hydrocephalus, Frontal encephalocele, Agenesis of corpus callosum	ORPHA:1528
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Heme Oxygenase 1 Deficiency	Nephritis, Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentratio...	OMIM:614034
Acute Peripheral Arterial Occlusion	Stroke, Pallor, Limb muscle weakness	ORPHA:90064
Hepatorenocardiac Degenerative Fibrosis	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenom...	OMIM:619902
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus cal...	OMIM:164180
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytos...	OMIM:615631
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly	ORPHA:37748
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Ascites, Cardiomegaly, Anemia, Lymphaden...	ORPHA:858
Congenital Tricuspid Valve Dysplasia	Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval...	ORPHA:555874
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Thrombocytopenia	ORPHA:1980
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ...	OMIM:253700
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Transaldolase Deficiency	Premature skin wrinkling, Biventricular hypertrophy, Telangiectasia, Coarctation of aorta, Atrial...	ORPHA:101028
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Cyclic Vomiting Syndrome	Pallor, Cardiomyopathy	OMIM:500007
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatocellular ...	OMIM:613490
Leukoencephalopathy With Vanishing White Matter 5	Dilated third ventricle, Lateral ventricle dilatation	OMIM:620315
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
Immunodeficiency 48	Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ...	OMIM:269840
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice	ORPHA:75234
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Lissencephaly 6 With Microcephaly	Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, Pachygyria, Pa...	OMIM:616212
Harderoporphyria	Increased urinary porphobilinogen, Splenomegaly, Red urine, Reticulocytosis, Hepatomegaly, Prolon...	OMIM:618892
Interstitial Pneumonitis, Desquamative, Familial	Cor pulmonale, Cyanosis	OMIM:263000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ...	ORPHA:363444
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Ventriculomegaly, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus, Gray matter heterotop...	OMIM:615219
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Subcortical heterotopia, Ventriculomegaly, Polymicrogyria, Type II lissencephaly, ...	OMIM:614643
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Lateral ventricle dilatation, Death in infancy, Simplified gyral pattern	OMIM:617668
Aortic Arch Interruption	Abnormal heart morphology, Cyanosis, Truncus arteriosus, Ventricular septal defect, Bicuspid aort...	ORPHA:2299
Heterotaxy, Visceral, 1, X-Linked	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Left superior ve...	OMIM:306955
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Elevated circulating hepatic transaminase concentratio...	OMIM:619463
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Aortic valve prolapse, Ventricular sep...	ORPHA:99094
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Abnormality of neuronal migration, Pachygyria, Gray matter heterotopia, Lissencep...	OMIM:604317
Heart Defects, Congenital, And Other Congenital Anomalies	Interrupted aortic arch, Total absence of the pericardium, Hypoplastic tricuspid valve, Tetralogy...	OMIM:600001
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Systemic Primary Carnitine Deficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration	ORPHA:158
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph...	OMIM:615122
3-Methylglutaconic Aciduria Type 1	Hepatomegaly, 3-Methylglutaconic aciduria	ORPHA:67046
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:610539
Indomethacin Embryofetopathy	Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis	ORPHA:1909
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou...	OMIM:618316
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Thoracic aortic aneurysm, Dextrotransposition of the gr...	OMIM:619657
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology	ORPHA:488635
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatomegaly	OMIM:609016
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly, Bone-marrow foam cells	OMIM:607616
Rheumatic Fever	Erythema, Abnormal heart valve morphology, Pallor, Abnormal aortic valve morphology, Abnormal mit...	ORPHA:3099
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Mungan Syndrome	Perimembranous ventricular septal defect, Pulmonic stenosis	OMIM:611376
Pontocerebellar Hypoplasia, Type 12	Lateral ventricle dilatation, Death in infancy	OMIM:618266
Immunodeficiency 69	Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A...	OMIM:618963
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Tetralogy Of Fallot	Tetralogy of Fallot, Intrauterine growth retardation	ORPHA:3303
Atrial Fibrillation, Familial, 10	Stroke, Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation	OMIM:614022
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
2,4-Dienoyl-Coa Reductase Deficiency	Ventriculomegaly, Death in childhood, Death in infancy, Colpocephaly, Hydrocephalus	OMIM:616034
Joubert Syndrome 30	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Gray matter heterotopia, Dandy-Wal...	OMIM:617622
Perching Syndrome	Camptodactyly, Cyanosis, Joint contracture	OMIM:617055
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Ventriculomegaly, Dilated third ventricle, Lateral ventricle dilatation, Type II lissencephaly, H...	OMIM:613154
Breath-Holding Spells	Pallor, Cyanosis	OMIM:607578
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Asbestos Intoxication	Cor pulmonale, Oxygen desaturation on exertion, Cyanosis, Hypoxemia, Edema, Myocardial fibrosis	ORPHA:2302
Hemimegalencephaly	Ventriculomegaly, Polymicrogyria, Gray matter heterotopia, Gliosis, Pachygyria, Abnormal neuron m...	ORPHA:99802
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Intrauterine growth retardation, Death in...	OMIM:608779
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Splenomega...	ORPHA:251380
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Hepatomegaly, Splenomegaly	ORPHA:2204
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Abnormal heart morphology...	ORPHA:980
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Splenomegaly	ORPHA:664
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Periventricular heterotopia, Simplified gyral pattern	OMIM:616171
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Abnormal heart morphology, Patent foramen ovale, C...	ORPHA:2041
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Colpocephaly, Hydrocephalus	OMIM:620156
Megabladder, Congenital	Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Bicuspid aortic valve, ...	OMIM:618719
Combined Oxidative Phosphorylation Deficiency 31	Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy...	OMIM:617228
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Unilateral Hemispheric Polymicrogyria	Lateral ventricle dilatation	ORPHA:101071
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Gaucher Disease Type 2	Hepatomegaly, Splenomegaly	ORPHA:77260
Gray Platelet Syndrome	Splenomegaly, Thrombocytopenia	ORPHA:721
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Pallor, Myocarditis, Edema	ORPHA:3386
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Polycystic liver disease, Abnormality of the pancreas	ORPHA:2924
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells	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, Hemolytic anemia, Splenomegaly, Thrombocytopenia	OMIM:615010
Congenital Muscular Dystrophy With Cerebellar Involvement	Ventriculomegaly, Decreased thalamic volume, Occipital encephalocele, Polymicrogyria, Type II lis...	ORPHA:370959
Tafro Syndrome	Ascites, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Leukocytosis, Anemia, Lymphadenop...	ORPHA:457077
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m...	OMIM:252011
Autoimmune Lymphoproliferative Syndrome, Type Iia	Nephritis, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmun...	OMIM:603909
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276556
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Coarctation of aorta, Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death	OMIM:601612
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly, Hepatocel...	OMIM:601847
Fumarase Deficiency	Ascites, Pallor, Reduced subcutaneous adipose tissue, Perimembranous ventricular septal defect, P...	OMIM:606812
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular hyperplasia, Autoimmune hemolytic...	OMIM:601859
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Aortic root aneurysm, Abnormal coronary artery morphology, Abnormal hear...	ORPHA:3400
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Abnormal hemidiaphragm morph...	ORPHA:2257
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice	OMIM:613977
Glycogen Storage Disease Vi	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepatic glycogen...	OMIM:232700
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Hepatic Veno-Occlusive Disease	Elevated circulating hepatic transaminase concentration, Ascites, Renal insufficiency, Hepatomega...	ORPHA:890
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Combined Oxidative Phosphorylation Deficiency 20	Left ventricular noncompaction, Hypertrophic cardiomyopathy	OMIM:615917
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly	ORPHA:401815
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Halperin-Birk Syndrome	Intrauterine growth retardation, Congenital diaphragmatic hernia, Death in childhood, Perimembran...	OMIM:618651
Neuralgic Amyotrophy	Upper limb muscle weakness, Redundant neck skin, Scapular winging, Acrocyanosis, Upper limb amyot...	ORPHA:2901
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276575
Lymphoproliferative Syndrome, X-Linked, 1	Hepatic failure, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Ascites, Abnormality of the ureter, Splenomegaly, Anemia, Hypoplasia of penis, Hypospadias	ORPHA:1046
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Situs inversu...	OMIM:605376
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Cholestasis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice	ORPHA:59303
Idiopathic/Heritable Pulmonary Arterial Hypertension	Right ventricular dilatation, Pedal edema	ORPHA:422
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Cholelithiasis, Hepatitis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Ret...	OMIM:194380
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Primary Ciliary Dyskinesia	Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, Abnormal inferior...	ORPHA:244
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:235555
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice	OMIM:614876
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Pallor	ORPHA:276580
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hepatitis, Elevated circula...	OMIM:613812
Familial Aortic Dissection	Descending thoracic aorta aneurysm, Aortic root aneurysm, Aortic dissection, Mucoid extracellular...	ORPHA:229
Aicardi-Goutieres Syndrome 4	Elevated circulating hepatic transaminase concentration, Pancytopenia, Hepatosplenomegaly, Spleno...	OMIM:610333
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Walker-Warburg Syndrome	Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus c...	ORPHA:899
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Intrauterine growth retardation, Redundant neck skin, Ventricular septal defect, Double outlet ri...	OMIM:301056
Heterotaxy, Visceral, 5, Autosomal	Total anomalous pulmonary venous return, Atrioventricular canal defect, Dextrotransposition of th...	OMIM:270100
Kallmann Syndrome-Heart Disease Syndrome	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Anomalous origin of left coronary artery fro...	ORPHA:2326
Thrombocythemia 1	Splenomegaly, Thrombocytosis	OMIM:187950
Desmoplastic Small Round Cell Tumor	Ascites, Anemia, Lymphadenopathy, Abnormal peritoneum morphology, Hepatomegaly, Mediastinal lymph...	ORPHA:83469
Mitochondrial Phosphate Carrier Deficiency	Hypertrophic cardiomyopathy, Cyanosis	OMIM:610773
Double Outlet Left Ventricle	Cyanosis, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Pulmonary artery ste...	ORPHA:3427
Adams-Oliver Syndrome 2	Lateral ventricle dilatation, Hydrocephalus, Polymicrogyria	OMIM:614219
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Multiple Symmetric Lipomatosis	Hepatomegaly	ORPHA:2398
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Osteopetrosis, Autosomal Recessive 8	Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia	OMIM:615085
Nephroblastoma	Hematuria, Neoplasm of the liver, Lymphadenopathy	ORPHA:654
X-Linked Sideroblastic Anemia	Anemia, Elevated circulating hepatic transaminase concentration, Splenomegaly	ORPHA:75563
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria	OMIM:618731
Aortic Aneurysm, Familial Thoracic 4	Aortic dissection, Anterior cerebral artery stenosis, Coronary artery atherosclerosis, Stroke, Bi...	OMIM:132900
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Meacham Syndrome	Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept...	OMIM:608978
Myopathic Ehlers-Danlos Syndrome	Increased variability in muscle fiber diameter, Joint contracture of the hand, Ankle flexion cont...	ORPHA:536516
Chromosome 9P Deletion Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Ventric...	OMIM:158170
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Portal hypertension, Splenomegaly...	ORPHA:824
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Splenomegaly	OMIM:608540
Lipodystrophy, Congenital Generalized, Type 3	Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis	OMIM:612526
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Reticulocytosis, Nonspherocytic h...	OMIM:235700
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia	ORPHA:231401
Immunodeficiency 91 And Hyperinflammation	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute hepatic failure,...	OMIM:619644
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Splenomegaly, Autoimmune hemolyti...	OMIM:301078
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
8P23.1 Duplication Syndrome	Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect	ORPHA:251076
Lissencephaly Syndrome, Norman-Roberts Type	Abnormality of neuronal migration, Microlissencephaly, 4-layered lissencephaly, Agenesis of corpu...	ORPHA:89844
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Splenomegaly, Increased hepatic glycogen...	OMIM:613027
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:618736
Renal Tubular Dysgenesis	Tetralogy of Fallot, Oligohydramnios, Polyhydramnios	ORPHA:3033
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Pontocerebellar Hypoplasia, Type 1A	Lateral ventricle dilatation, Basal ganglia gliosis, Degeneration of anterior horn cells	OMIM:607596
Adams-Oliver Syndrome 6	Hepatic fibrosis, Renal hypoplasia, Portal hypertension, Splenomegaly	OMIM:616589
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Babesiosis	Hepatic failure, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, J...	ORPHA:108
Hurler-Scheie Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly	ORPHA:93476
Maternal Phenylketonuria	Hypoplastic left heart, Tetralogy of Fallot, Abnormal heart morphology, Intrauterine growth retar...	ORPHA:2209
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Ascites, Elevated circulating aspartate aminotransferase concentration, M...	OMIM:257200
Immunodeficiency, Common Variable, 6	Abnormal T cell count, Stage 5 chronic kidney disease, Abnormal B cell count, Hydronephrosis, Glo...	OMIM:613496
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
X-Linked Parkinsonism-Spasticity Syndrome	Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly	OMIM:300635
Hemochromatosis, Type 2A	Hepatomegaly, Cirrhosis, Splenomegaly	OMIM:602390
Hypotonia, Infantile, With Psychomotor Retardation	Lateral ventricle dilatation	OMIM:616816
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly	OMIM:618107
Ventricular Septal Defect 3	Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect	OMIM:614432
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Splenomegaly, Chol...	OMIM:266200
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level, B lymphocytopenia	OMIM:618987
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Polyh...	ORPHA:3405
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Cardiac Valvular Dysplasia 2	Pulmonary artery dilatation, Central cyanosis, Bicuspid aortic valve, Subvalvular aortic stenosis...	OMIM:620067
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa...	OMIM:278000
Benign Paroxysmal Torticollis Of Infancy	Pallor, Torticollis	ORPHA:71518
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Thanatophoric Dysplasia Type 2	Ventriculomegaly, Encephalocele, Abnormality of neuronal migration, Hydrocephalus, Holoprosencephaly	ORPHA:93274
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology, Lateral ventricle dilatation, Gliosis	OMIM:221770
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Patent ductus arteriosus	OMIM:616501
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridi...	OMIM:309801
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Right ventricular dilatation	OMIM:618920
Hepatoportal Sclerosis	Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran...	ORPHA:64743
Anemia, Hypochromic Microcytic, With Iron Overload 2	Sideroblastic anemia, Splenomegaly, Anemia, Elevated hepatic iron concentration, Poikilocytosis, ...	OMIM:615234
Hoxha-Aliu Syndrome	Perimembranous ventricular septal defect, Atrial septal defect, Contracture of the proximal inter...	OMIM:620662
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric...	OMIM:618773
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Right ventricular dilatation	OMIM:615616
Dermatitis, Atopic	Dry skin, Facial erythema, Pallor	OMIM:603165
Buerger Disease	Vasculitis, Livedo reticularis, Acrocyanosis, Skin ulcer	ORPHA:36258
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Fetal Trimethadione Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of...	ORPHA:1913
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Hypertrophic cardiomyopathy, A...	OMIM:261740
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation	ORPHA:306669
Yuan-Harel-Lupski Syndrome	Bicuspid aortic valve, Double outlet right ventricle, Aortic root aneurysm, Ventricular septal de...	OMIM:616652
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm...	ORPHA:381
Ogden Syndrome	Facial wrinkling, Ventricular septal defect, Pulmonary edema, Bicuspid aortic valve, Atrial septa...	OMIM:300855
Budd-Chiari Syndrome	Elevated circulating hepatic transaminase concentration, Ascites, Acute hepatic failure, Portal h...	ORPHA:131
Biliary Atresia, Extrahepatic	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Atretic gallbladder, Ci...	OMIM:210500
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Leukoencephalopathy, Progressive, With Ovarian Failure	Lateral ventricle dilatation	OMIM:615889
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,...	OMIM:263200
Martsolf Syndrome 2	Lateral ventricle dilatation	OMIM:619420
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No...	OMIM:613470
Familial Focal Epilepsy With Variable Foci	Pallor, Flushing	ORPHA:98820
Spherocytosis, Type 1	Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:182900
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J...	OMIM:612714
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Hemolytic anemia, Impaired...	OMIM:618935
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation	OMIM:619972
Right Atrial Isomerism	Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr...	OMIM:208530
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Do...	ORPHA:371428
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundice, Hepatom...	OMIM:211600
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Incre...	ORPHA:369
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Hepatomeg...	OMIM:615415
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventricular septal defect, Atrial ...	OMIM:609053
Edinburgh Malformation Syndrome	Abnormality of neuronal migration, Hydrocephalus	ORPHA:1895
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Wolcott-Rallison Syndrome	Ascites, Double outlet right ventricle, Atrial septal defect, Jaundice, Dehydration	ORPHA:1667
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope...	ORPHA:276
Ventriculomegaly With Defects Of The Radius And Kidney	Ventriculomegaly, Lateral ventricle dilatation, Hydrocephalus	OMIM:602200
Gaucher Disease, Type Iii	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia	OMIM:231000
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Congenital Tracheomalacia	Abnormal pulmonary artery morphology, Abnormal heart morphology, Tetralogy of Fallot, Right aorti...	ORPHA:95430
Omenn Syndrome	Severe B lymphocytopenia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphaden...	OMIM:603554
Pulmonary Capillary Hemangiomatosis	Pleural effusion, Cyanosis, Pulmonary edema, Abnormal pulmonary vein morphology, Pericardial effu...	ORPHA:199241
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Renal insufficiency, Sp...	OMIM:603903
Infantile Sialic Acid Storage Disease	Ascites, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephrotic syndrome	OMIM:269920
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Ventriculomegaly, Lateral ventricle dilatation, Perisylvian polymicrogyria	OMIM:618291
Rhabdoid Tumor	Hematuria, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia, Anemia	ORPHA:69077
Macrophage Activation Syndrome	Hepatitis, Decreased liver function, Hemophagocytosis, Elevated circulating aspartate aminotransf...	ORPHA:158061
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Craniosynostosis 6	Spina bifida occulta, Lateral ventricle dilatation, Dandy-Walker malformation, Agenesis of corpus...	OMIM:616602
Mulibrey Nanism	Hepatomegaly	ORPHA:2576
Wolman Disease	Hepatic failure, Ascites, Splenomegaly, Anemia, Hepatomegaly, Bone-marrow foam cells	ORPHA:75233
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Glio...	ORPHA:79243
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Lateral ventricle dilatation, Lissencephaly, Simplified gyral pattern	ORPHA:284417
Overhydrated Hereditary Stomatocytosis	Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P...	OMIM:185000
Cryoglobulinemic Vasculitis	Abnormality of the liver, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly...	ORPHA:91138
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Ventriculomegaly, Colpocephaly, Periventricular heterotopia, Hydrocephalus	OMIM:619833
Spherocytosis, Type 4	Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:612653
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormal aortic morphology, Abnormality of ...	ORPHA:1166
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Dubin-Johnson Syndrome	Abnormal urinary color, Abnormality of the liver, Biliary tract abnormality, Hepatomegaly, Jaundice	ORPHA:234
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Splenomegaly, Anemia, Pancreatitis, Neutropenia, Thrombocytopenia, Hepatomegaly	ORPHA:79312
Sialidosis Type 2	Hepatomegaly, Nephropathy, Splenomegaly, Ascites	ORPHA:87876
Galactose Mutarotase Deficiency	Cholestasis, Hepatomegaly, Decreased liver function	ORPHA:570422
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ...	ORPHA:98913
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Stroke-like episode, Abnormal cardiac atrium morphology, Peripheral edema...	ORPHA:563
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in childhood	OMIM:619517
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Cholestasis, Ascit...	ORPHA:53035
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100083
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cirrhosis...	OMIM:613489
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Ventricular septal defect, Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus...	OMIM:126320
Atrial Standstill	Muscular dystrophy, Skeletal muscle atrophy, Cardiomyopathy, Left ventricular noncompaction, Abno...	ORPHA:1344
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Simplified gyral pattern, Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corp...	OMIM:619244
Congenital Fibrinogen Deficiency	Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Left ventricular hypertrophy, Right v...	ORPHA:335
Catel-Manzke Syndrome	Intrauterine growth retardation, Ventricular septal defect, Overriding aorta, Coarctation of aort...	OMIM:616145
Desmosterolosis	Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Agenesis of corpus callosum, Abnorm...	ORPHA:35107
Holoprosencephaly 14	Ventriculomegaly, Alobar holoprosencephaly, Periventricular heterotopia, Hydrocephalus, Gray matt...	OMIM:619895
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Bile Acid Conjugation Defect 1	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Elevated circulat...	OMIM:619232
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
16P13.11 Microdeletion Syndrome	Abnormality of neuronal migration, Ventriculomegaly, Holoprosencephaly, Agenesis of corpus callosum	ORPHA:261236
Peroxisome Biogenesis Disorder 12A (Zellweger)	Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect	OMIM:614886
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Elliptocytosis 1	Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis	OMIM:611804
Polycystic Liver Disease 2 With Or Without Kidney Cysts	Hepatomegaly, Hepatic cysts	OMIM:617004
Intellectual Developmental Disorder, Autosomal Recessive 41	Hepatomegaly, Splenomegaly	OMIM:615637
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:612126
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly, Cyanosis	ORPHA:391428
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome	Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy	ORPHA:369847
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration, Hydrocephalus, Pa...	ORPHA:157
Cryohydrocytosis	Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis	OMIM:185020
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Pancytopenia, Splenomegaly	OMIM:614979
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Left ventricular noncompaction, Patent foramen ovale, Neonatal death, Lef...	OMIM:619167
Thrombocytopenia With Beta-Thalassemia, X-Linked	Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,...	OMIM:314050
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, 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	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	OMIM:613443
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Apert Syndrome	Overriding aorta, Ventricular septal defect	OMIM:101200
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular septal defect, Polyhydramnios, Arthr...	OMIM:607598
Neurocutaneous Melanocytosis	Ventriculomegaly, Death in infancy, Abnormality of neuronal migration, Meningocele, Dandy-Walker ...	ORPHA:2481
Acute Interstitial Pneumonia	Peripheral edema, Pleural effusion, Cyanosis, Pericardial effusion, Hypoxemia	ORPHA:79126
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Spherocytosis, Type 2	Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia	OMIM:616649
Alg2-Cdg	Lateral ventricle dilatation	ORPHA:79326
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Aggressive Systemic Mastocytosis	Decreased liver function, Ascites, Hepatosplenomegaly, Hypersplenism, Portal hypertension, Pancyt...	ORPHA:98850
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Primary Lateral Sclerosis, Juvenile	Spasticity of facial muscles, Pallor	OMIM:606353
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Pulmonary artery atresia, Mitral atresia, Intraute...	OMIM:618164
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
X-Linked Intellectual Disability, Nascimento Type	Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Dry skin, Oligohydramnios, Mitral sten...	ORPHA:163956
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Truncus arteriosus, Ventricular septal defect...	ORPHA:508498
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	Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Splenom...	OMIM:615630
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:611490
Beta-Thalassemia Intermedia	Cholelithiasis, Proximal tubulopathy, Decreased liver function, Extramedullary hematopoiesis, Per...	ORPHA:231222
Free Sialic Acid Storage Disease	Ascites, Splenomegaly, Proteinuria, Hepatomegaly, Nephrotic syndrome	ORPHA:834
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased liver function, Abnormal lymph...	ORPHA:85450
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Pallor	ORPHA:99931
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum	ORPHA:255138
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Jaundice,...	OMIM:618549
Necrotizing Enterocolitis	Abnormal heart morphology, Cyanosis, Edema, Ascites	ORPHA:391673
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Death in early adulthood, Palmoplantar scaling...	OMIM:605676
Joubert Syndrome 33	Splenomegaly	OMIM:617767
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, A...	ORPHA:1686
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Ascites, Increased urinary O-linked sialopeptid...	OMIM:256550
Cardiomyopathy, Familial Restrictive, 6	Ascites, Hepatomegaly, Portal vein hypoplasia, Hepatic artery hyperplasia	OMIM:619433
Pulmonary Arteriovenous Malformation	Bacterial endocarditis, Transient ischemic attack, Ischemic stroke, Cyanosis, Pulmonary arteriove...	ORPHA:2038
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Re...	ORPHA:83313
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Lymphopenia, Leukopenia, Splenomegaly	OMIM:620210
Congenital Tracheal Stenosis	Hypoplastic left heart, Fetal ascites, Anomalous origin of left pulmonary artery from ascending a...	ORPHA:141127
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect	OMIM:301040
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Pericardial And Diaphragmatic Defect	Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tetralogy of Fallot, Mit...	ORPHA:2847
Castleman Disease	Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, Hematuria, Anemia, Generalized...	ORPHA:160
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Frontal polymicrogyria	OMIM:608629
Hereditary Bullous Dystrophy, Macular Type	Abnormal heart morphology, Acrocyanosis	ORPHA:1867
Roifman Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Optic Atrophy 1	Pallor	OMIM:165500
Meckel Syndrome, Type 3	Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Hepatom...	OMIM:607361
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag...	OMIM:619802
Down Syndrome	Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular canal defect, Paten...	OMIM:190685
Atrial Septal Defect, Coronary Sinus Type	Transient ischemic attack, Anomalous origin of the left common carotid artery from the main pulmo...	ORPHA:99104
Polysyndactyly With Cardiac Malformation	Polyhydramnios, Ventricular septal defect, Atrial septal defect, Stillbirth	OMIM:263630
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy, Right ventricular dilatation	OMIM:619705
Retinitis Pigmentosa 59	Hepatomegaly, Micropenis, Elevated circulating hepatic transaminase concentration, Renal insuffic...	OMIM:613861
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Hepatic failure, Proximal tubulopathy, Renal cyst, Cirrhosis, Lymphangiectasis,...	OMIM:602579
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Ventricu...	ORPHA:261183
Classic Glucose Transporter Type 1 Deficiency Syndrome	Cyanosis	ORPHA:71277
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
Methimazole Embryofetopathy	Intrauterine growth retardation, Abnormal aortic morphology, Ventricular septal defect, Coarctati...	ORPHA:1923
Propionic Acidemia	Hepatomegaly, Organic aciduria	ORPHA:35
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Anemia, Renal insufficiency	ORPHA:28
Coach Syndrome 1	Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat...	OMIM:216360
Immunodeficiency 32B	Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne...	OMIM:226990
Williams Syndrome	Death in early adulthood, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid ao...	ORPHA:904
Fetal Cytomegalovirus Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Anemia, Thrombo...	ORPHA:294
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Reduced renal corticomedullary differentiation, Splenomegaly	OMIM:618541
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Elevated urinary inosine level, Lymphopenia, Lymph node hypoplasia, Sple...	OMIM:613179
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Peripheral edema, Cyanosis, Left atrial enlargement, Left ventricula...	ORPHA:99106
Thanatophoric Dysplasia	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	ORPHA:2655
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Waardenburg Syndrome Type 3	Acrocyanosis, Atrial septal defect, Camptodactyly of finger	ORPHA:896
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Reduced natural killer ...	ORPHA:158057
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Abnormality of neuronal migration,...	ORPHA:228308
Polycythemia Vera	Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul...	OMIM:263300
Cardiomyopathy, Dilated, 1D	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:601494
Hereditary Spherocytosis	Jaundice, Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ventriculomegaly, Periventricular heterotopia, Agenesis of corpus callosum, Hydrocephalus, Dandy-...	OMIM:618476
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Neonatal death, Persistent left superior vena cava, Transposition ...	OMIM:314390
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Splenomegaly, Sclerosing cholangitis, Enlarged ...	OMIM:308230
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenome...	ORPHA:846
Fetal Gaucher Disease	Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly	ORPHA:85212
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Pediatric Hepatocellular Carcinoma	Portal vein thrombosis, Hepatic fibrosis, Hepatic necrosis, Hepatomegaly	ORPHA:33402
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Splenomegaly, Abnormal urinary color	ORPHA:90037
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest...	OMIM:615895
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Splenomegaly, Reticulocytosis, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Evans Syndrome	Jaundice, Bruising susceptibility, Pallor, Petechiae	ORPHA:1959
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Overriding aorta	ORPHA:3186
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Hepatic failure, Cholestasis, Portal hypertension, Splenomegaly, Sclerosing cho...	OMIM:607626
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Nodular regenerative hyperplasia of liver, Hepatic failure, Increased mean corpuscular volume, Po...	OMIM:620367
Glutamine Deficiency, Congenital	Subependymal cysts, Lateral ventricle dilatation, Neonatal death	OMIM:610015
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit...	OMIM:300400
Farber Lipogranulomatosis	Hepatomegaly, Splenomegaly, Lipogranulomatosis	OMIM:228000
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr...	OMIM:224120
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Lateral ventricle dilatation, Polymicrogyria	OMIM:617751
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Anemia, Eosinophilia, Glomerulonephritis, Neu...	OMIM:304790
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233710
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati...	OMIM:251880
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Tetralogy of Fallot, Mitral valve prolapse, Ventricular septal defect, A...	OMIM:612561
Cholestasis, Benign Recurrent Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Pancreatitis, Intermittent jaundice	OMIM:243300
Alpha-1-Antitrypsin Deficiency	Hepatic failure, Nephrotic syndrome, Hepatitis, Cholestasis, Cirrhosis, Hepatomegaly, Jaundice, H...	ORPHA:60
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Van Der Woude Syndrome 1	Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate	OMIM:119300
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Heparan sulfate excretion in urine, Cardiomegaly, Splenomegaly	OMIM:252920
Scrub Typhus	Renal insufficiency, Splenomegaly, Lymphadenopathy	ORPHA:83317
Galactosemia I	Aminoaciduria, Galactosuria, Decreased liver function, Elevated circulating aspartate aminotransf...	OMIM:230400
Glutaric Acidemia I	Lateral ventricle dilatation, Hydrocephalus	OMIM:231670
Isolated Biliary Atresia	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	ORPHA:30391
Acute Myelomonocytic Leukemia	Pallor	ORPHA:517
Erythrocytosis, Familial, 1	Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red...	OMIM:133100
Chromosome 6Q24-Q25 Deletion Syndrome	Intrauterine growth retardation, Mitral valve prolapse, Dysplastic tricuspid valve, Dysplastic pu...	OMIM:612863
Immunodeficiency, Common Variable, 7	Splenomegaly	OMIM:614699
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Hemochromatosis, Type 1	Elevated circulating hepatic transaminase concentration, Ascites, Splenomegaly, Cardiomegaly, Cir...	OMIM:235200
Immunodeficiency 114, Folate-Responsive	Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly	OMIM:620603
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, Perimembranous ven...	OMIM:612474
Cleft Lip/Palate	Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg-shaped maxillary lateral i...	ORPHA:199306
Dravet Syndrome	Pallor, Cyanotic episode	ORPHA:33069
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Hypertrophic cardiomyopathy, Abnormal pericardium morphology, Transient ischemic atta...	ORPHA:183
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Lateral ventricle dilatation	OMIM:614105
Giant Cell Arteritis	Vasculitis, Aortic dissection, Double outlet right ventricle with subpulmonary ventricular septal...	ORPHA:397
Cach Syndrome	T2 hypointense thalamus, Lateral ventricle dilatation, Dysgyria	ORPHA:135
Aicardi-Goutieres Syndrome 1	Vasculitis, Erythema, Cardiomyopathy, Petechiae, Prolonged neonatal jaundice, Acrocyanosis, Purpura	OMIM:225750
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Elevated circulating hepatic transaminase concentr...	ORPHA:400
Hypocomplementemic Urticarial Vasculitis	Ascites, Renal insufficiency, Splenomegaly, Hematuria, Proteinuria, Lymphadenopathy, Hepatomegaly	ORPHA:36412
Diffuse Neonatal Hemangiomatosis	Ascites, Renal insufficiency, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:2123
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Lymph...	OMIM:617591
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly, Hypoplasia of penis	ORPHA:99812
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Tetralogy of Fallot, Ventricular septal defect, ...	ORPHA:1727
Caroli Syndrome	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	ORPHA:480520
Diabetic Embryopathy	Tetralogy of Fallot, Abnormal aortic morphology, Abnormality of the pulmonary artery, Ventricular...	ORPHA:1926
Esophageal Atresia	Tetralogy of Fallot, Pallor, Cyanosis, Ventricular septal defect, Coarctation of aorta, Polyhydra...	ORPHA:1199
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Pallor	ORPHA:276608
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation	OMIM:615716
Brain Small Vessel Disease 2	Subcortical heterotopia, Ventriculomegaly, Polymicrogyria	OMIM:614483
Transaldolase Deficiency	Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope...	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	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Hepatomeg...	OMIM:233690
Non-Functioning Paraganglioma	Pallor, Flushing, Cerebral hemorrhage	ORPHA:94080
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Edema, Pallor, Jaundice, Dehydration	ORPHA:20
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per...	ORPHA:139507
Sarcoidosis, Susceptibility To, 2	Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly	OMIM:612387
Naxos Disease	Dilated cardiomyopathy, Abnormal heart morphology, Right ventricular cardiomyopathy, Cardiomegaly...	OMIM:601214
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity...	OMIM:614437
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Congenital Disorder Of Deglycosylation 2	Ventriculomegaly, Polymicrogyria, Hypothalamic hamartoma, Gray matter heterotopia, Partial agenes...	OMIM:619775
Neonatal Lupus Erythematosus	Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Abnorm...	ORPHA:398124
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Atrial Septal Defect, Sinus Venosus Type	Stroke, Right ventricular dilatation, Anomalous pulmonary venous return	ORPHA:99105
Rubinstein-Taybi Syndrome 1	Hypoplastic left heart, Aortic isthmus hypoplasia, Mitral valve prolapse, Ventricular septal defe...	OMIM:180849
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	OMIM:617296
Cholestasis, Benign Recurrent Intrahepatic, 2	Hepatomegaly, Intrahepatic cholestasis, Cholelithiasis, Jaundice	OMIM:605479
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Renal insufficiency, Splenomegaly, Hematuria...	ORPHA:549
Histiocytoid Cardiomyopathy	Stroke-like episode, Pallor, Cyanosis, Ventricular septal defect, Cardiomegaly, Pulmonary edema	ORPHA:137675
Autoimmune Hepatitis	Elevated circulating hepatic transaminase concentration, Viral hepatitis, Ascites, Splenomegaly, ...	ORPHA:2137
Gaucher Disease Type 1	Splenic infarction, Cholelithiasis, Hepatic failure, Ascites, Hepatosplenomegaly, Hypersplenism, ...	ORPHA:77259
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	OMIM:219730
Meckel Syndrome 14	Oligohydramnios, Cyanosis, Increased nuchal translucency, Single ventricle	OMIM:619879
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atrioventricular canal ...	ORPHA:251071
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Leukocytosis, Splenomegaly	OMIM:618042
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Hydrocephalus, Neonatal death	OMIM:187600
Microphthalmia, Syndromic 9	Hypoplastic left atrium, Right aortic arch with mirror image branching, Tetralogy of Fallot, Intr...	OMIM:601186
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Charge Syndrome	Secundum atrial septal defect, Tetralogy of Fallot, Right aortic arch, Ventricular septal defect,...	OMIM:214800
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Abnormal thalamus morphology, Lateral ventricle dilatation, Polymicrogyria, Type II lissencephaly...	ORPHA:300570
Waldenström Macroglobulinemia	Vasculitis, Cutis marmorata, Pleural effusion, Pallor, Stroke, Periorbital edema, Purpura, Pedal ...	ORPHA:33226
Lymphatic Malformation 5	Facial edema, Predominantly lower limb lymphedema, Cleft palate	OMIM:153200
Prolidase Deficiency	Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Prolonged neonatal j...	OMIM:170100
Joubert Syndrome	Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Polymicrogyria	ORPHA:475
Carnitine-Acylcarnitine Translocase Deficiency	Rhabdomyolysis, Cyanosis, Cardiomyopathy	ORPHA:159
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Kcnq2-Related Epileptic Encephalopathy	Cerebral edema, Facial erythema, Pallor	ORPHA:439218
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Pa...	OMIM:603553
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Renal tubular dysfunction, Anemia, Pancreatitis, Neutropenia, Thrombocytopen...	ORPHA:289916
Atrial Septal Defect, Ostium Secundum Type	Transient ischemic attack, Cyanosis, Abnormal mitral valve morphology, Stroke, Right atrial enlar...	ORPHA:99103
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Scheie Syndrome	Hepatomegaly, Mucopolysacchariduria, Splenomegaly	ORPHA:93474
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Hemochromatosis, Type 4	Hepatomegaly, Anemia, Cirrhosis, Hepatic steatosis	OMIM:606069
Meacham Syndrome	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Conotruncal defect, Situs inv...	ORPHA:3097
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Aicardi Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Choroid plexus cyst, Spina...	OMIM:304050
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Pachygyria, Agyria, Lateral ventricle dilatation	ORPHA:2148
Spontaneous Periodic Hypothermia	Pallor	ORPHA:29822
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Warsaw Breakage Syndrome	Tetralogy of Fallot, Cutis marmorata, Intrauterine growth retardation, Ventricular septal defect	OMIM:613398
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe...	OMIM:618528
Frank-Ter Haar Syndrome	Secundum atrial septal defect, Mitral valve prolapse, Ventricular septal defect, Patent foramen o...	OMIM:249420
Dominant Beta-Thalassemia	Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Pallor, Jaundice	ORPHA:231226
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Cholestatic liver disease, Giant cell hepatitis, Nephropathy, Elevated circulating hepatic transa...	OMIM:613404
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation	OMIM:600721
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Ja...	ORPHA:90033
Papa Syndrome	Proteinuria, Lymphadenopathy	ORPHA:69126
3C Syndrome	Ventriculomegaly, Death in infancy, Abnormality of neuronal migration, Hydrocephalus, Dandy-Walke...	ORPHA:7
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly	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	Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Mediastinal lymphadenopathy, Liver abscess	ORPHA:379
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Aa Amyloidosis	Chronic kidney disease, Nephropathy, Acute kidney injury, Cholestasis, Proteinuria, Hepatomegaly,...	ORPHA:85445
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Aredyld Syndrome	Hepatomegaly, Abnormality of the ureter, Splenomegaly	ORPHA:1133
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Ascites, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermitte...	ORPHA:100086
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Ventriculomegaly, Occipital encephalocele, Type II lissencephaly, Agenesis of corpus callosum, Hy...	OMIM:615287
Eosinophilic Fasciitis	Myositis, Muscular edema, Acrocyanosis, Edema	ORPHA:3165
Agammaglobulinemia 8B, Autosomal Recessive	B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo...	OMIM:619824
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation	ORPHA:208447
Holt-Oram Syndrome	Hypoplasia of deltoid muscle, Mitral valve prolapse, Ventricular septal defect, Atrial septal def...	OMIM:142900
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Ventriculomegaly, Gray matter heterotopia	ORPHA:370980
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Encephalocele	ORPHA:2318
Hereditary Orotic Aciduria	Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria,...	ORPHA:30
Fucosidosis	Cardiomegaly, Acrocyanosis, Vascular skin abnormality, Decreased muscle mass	ORPHA:349
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Peripheral pulmonary artery stenosis, Joint contracture of the hand, Tetralogy of Fallot, Dry ski...	OMIM:280000
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Renal ...	ORPHA:139402
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly...	ORPHA:331206
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation	OMIM:619278
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Lateral ventricle dilatation, Hydrocephalus, Death in childhood	OMIM:612301
Distal Deletion 15Q	Hypoplastic left heart, Abnormal aortic arch morphology, Double outlet right ventricle with doubl...	ORPHA:1596
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Renal insufficiency, Leukoc...	ORPHA:293173
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, Renal hypoplasia, 3-Methylglutaconic aciduria, Anisocytosis, Lacticaciduria, Hepat...	OMIM:604273
Pontocerebellar Hypoplasia, Type 13	Lateral ventricle dilatation, Dandy-Walker malformation	OMIM:618606
Gaucher Disease, Type I	Hypersplenism, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly	OMIM:230800
Glycogen Storage Disease Xii	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Decreased erythrocyte fructose-1,...	OMIM:611881
Eisenmenger Syndrome	Bacterial endocarditis, Generalized edema, Abnormal heart morphology, Tetralogy of Fallot, Atriov...	ORPHA:97214
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Contracture of the proximal interphalangeal joint of the 3rd finger, Double outlet right ventricl...	OMIM:618223
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Aqueductal stenosis, Pachygyria	ORPHA:2065
Sick Sinus Syndrome 2	Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse	OMIM:163800
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Splenomegaly	ORPHA:33577
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase...	OMIM:618805
Familial Tumoral Calcinosis	Hepatomegaly, Nephrocalcinosis, Splenomegaly	ORPHA:53715
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Lateral ventricle dilatation, Dilated third ventricle, Hydrocephalus	OMIM:619575
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V...	OMIM:619472
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Neoplasm of the thymus, Chronic noninfectious lymphadenopathy, Pancreati...	ORPHA:97289
High Altitude Pulmonary Edema	Pulmonary edema, Hypoxemia, Cyanosis	ORPHA:330012
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Hyperinsulinism Due To Hnf1A Deficiency	Pallor	ORPHA:324575
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria	OMIM:608840
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Patent foramen ovale, Ventricular septal defect, Double outlet right vent...	OMIM:301043
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog...	ORPHA:3202
Hereditary Methemoglobinemia	Cyanosis	ORPHA:621
Mixed Connective Tissue Disease	Nephropathy, Hemolytic anemia, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastin...	ORPHA:809
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Ventriculomegaly, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation,...	ORPHA:397715
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Ventriculomegaly, Gliosis	OMIM:300957
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	ORPHA:367
Lymphatic Malformation 6	Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P...	OMIM:616843
Alkuraya-Kucinskas Syndrome	Lissencephaly, Ventriculomegaly, Hydrocephalus, Gray matter heterotopia, Dandy-Walker malformation	OMIM:617822
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Pallor	OMIM:613839
Malan Overgrowth Syndrome	Ventriculomegaly, Lateral ventricle dilatation	ORPHA:420179
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Skeletal muscle atrophy, Angioedema, Transient ischemic attack, Cutis mar...	ORPHA:3260
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Hemophagocytosis, Pancytopenia, Splenomegaly	OMIM:618398
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid leve...	OMIM:260920
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration, Ventriculomegaly	ORPHA:2772
Kaposiform Lymphangiomatosis	Hepatosplenomegaly, Splenomegaly, Lymphangioma, Abnormality of the lymphatic system, Abnormal lym...	ORPHA:464329
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Renal insufficiency, Macrocytic anemia, Anemia, Pancreatitis, Thrombocytopenia, Hepat...	ORPHA:27
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Lateral ventricle dilatation, Gliosis, Death in childhood	OMIM:619847
Alternating Hemiplegia Of Childhood	Dehydration, Cardiomyopathy, Pallor, Facial hypotonia, Flushing	ORPHA:2131
Beta-Thalassemia Major	Hypoplasia of the musculature, Dilated cardiomyopathy, Skin ulcer, Pallor, Jaundice	ORPHA:231214
Developmental And Epileptic Encephalopathy 31B	Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum	OMIM:620352
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:3078
Pseudo-Torch Syndrome 1	Elevated circulating hepatic transaminase concentration, Decreased liver function, Renal insuffic...	OMIM:251290
Galactokinase Deficiency	Hepatomegaly, Increased level of galactitol in urine, Hepatosplenomegaly	ORPHA:79237
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Ventriculomegaly, Hydrocephalus	ORPHA:1860
Tangier Disease	Hepatomegaly, Left ventricular hypertrophy, Splenomegaly	OMIM:205400
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas...	ORPHA:100093
Niemann-Pick Disease, Type C1	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Fatal liver failure in infancy, Prolonged ne...	OMIM:257220
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Erythema, Dry skin, Reduced subcutaneous adipose tissue, Hip contracture, Ventricular septal defe...	OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Hepatomegaly, Renal hypoplasia, Ketonuria	OMIM:619053
Hydrocephaly-Low Insertion Umbilicus Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous return	ORPHA:2184
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Ascites, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cysti...	OMIM:200995
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor, Ragged-red muscle fibers, Scapular winging, Generalized limb muscle atrophy	OMIM:600462
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Eleva...	OMIM:276700
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Abnormal heart morphology, Radial artery aplasia, Pallor, Ven...	ORPHA:124
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C...	OMIM:614823
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating hepatic transa...	OMIM:600649
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Cyanosis, Misalignment of the pulmonary veins, Neonatal death	OMIM:265120
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232220
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Ascites, Chronic noninfectious lymphaden...	ORPHA:100085
Intellectual Developmental Disorder, Autosomal Dominant 56	Lateral ventricle dilatation	OMIM:617854
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Secundum atrial septal defect, Tetralogy of Fallot, Intrauterine growt...	OMIM:612562
Sepsis In Premature Infants	Pallor, Petechiae, Cyanosis, Jaundice, Purpura, Edema	ORPHA:90051
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Acute Panmyelosis With Myelofibrosis	Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye...	ORPHA:86843
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ventriculomegaly, Polymicrogyria, Death in infancy, Agenesis of corpus callosum, Abnormality of n...	OMIM:608836
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Colpocephaly, Gray matte...	OMIM:618820
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Gray matter heterotopia	OMIM:300049
Liver Failure, Infantile, Transient	Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Acute hepatic fai...	OMIM:613070
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Ventriculomegaly, Periventricular heterotopia, Simplified gyral pattern	OMIM:618273
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Cyanosis, Hypoxemia	ORPHA:70587
Acute Monoblastic/Monocytic Leukemia	Oliguria, Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, L...	ORPHA:514
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Ascites, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, ...	OMIM:306400
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Skeletal muscle atrophy	ORPHA:2400
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Aortic dissection, Medial calcification of large arteries, Arterial calc...	ORPHA:51608
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:614582
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Portal hypertension, Splenic cys...	OMIM:610199
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Penile freckling, Splenomegaly	OMIM:605309
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Macroglossia, Transposition of the great arteries, Patent foramen ovale	OMIM:616789
Immunodeficiency 36 With Lymphoproliferation	Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel...	OMIM:616005
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Periventricular nodular heterotopia, Choroid plexus cyst, Polymicrogyria	OMIM:617201
Lymphangiectasia, Pulmonary, Congenital	Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Mild postnatal growth re...	OMIM:265300
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Cya...	OMIM:252010
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
16Q24.3 Microdeletion Syndrome	Ventriculomegaly, Colpocephaly, Periventricular heterotopia	ORPHA:261250
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Fanconi Anemia, Complementation Group E	Abnormal heart morphology, Anemic pallor, Bruising susceptibility	OMIM:600901
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio...	ORPHA:1454
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation	OMIM:256850
Melkersson-Rosenthal Syndrome	Oligosacchariduria, Lymphadenopathy	ORPHA:2483
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Fanconi Anemia, Complementation Group C	Bruising susceptibility, Intrauterine growth retardation, Ventricular septal defect, Anemic pallo...	OMIM:227645
Acrocardiofacial Syndrome	Camptodactyly of finger, Tetralogy of Fallot, Intrauterine growth retardation, Mitral stenosis, D...	ORPHA:2008
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Hydranencephaly, Dilated third ventricle, Lateral ventricle dilatation, Polymicrogyria, Colpoceph...	OMIM:620371
Unilateral Polymicrogyria	Abnormal heart morphology, Stroke, Cyanosis, Pulmonary arteriovenous malformation	ORPHA:268943
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Acquired Purpura Fulminans	Pyoderma gangrenosum, Intracranial hemorrhage, Acrocyanosis, Macular purpura	ORPHA:49566
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Dextrotransposition of the great arteries, Lower limb hypertonia, Ventricular septal defect	OMIM:619995
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Renal insufficiency, Hepatic cysts, Multiple renal cysts, Hepatom...	OMIM:613095
Majeed Syndrome	Leukocytosis, Splenomegaly, Proteinuria, Congenital hypoplastic anemia, Hypochromic microcytic an...	ORPHA:77297
Tarp Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Cyanosis, Persistent left superior vena cav...	ORPHA:2886
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Von Hippel-Lindau Disease	Macular edema, Upper limb muscle weakness, Cardiomyopathy, Pallor, Stroke, Distal lower limb musc...	ORPHA:892
Poems Syndrome	Ascites, Pleural effusion, Plethora, Pericardial effusion, Acrocyanosis, Edema	ORPHA:2905
Fanconi-Bickel Syndrome	Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Glycosuria, Elevated c...	ORPHA:2088
Lymphedema-Distichiasis Syndrome	Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se...	OMIM:153400
Mcleod Syndrome	Elevated circulating aspartate aminotransferase concentration, Acanthocytosis, Splenomegaly, Elev...	OMIM:300842
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Ketonuria, Increased hepatic echogenicity, Hepatic steatosis, Elevated circulati...	OMIM:261680
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:544488
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Medium chain dicarboxyl...	OMIM:201450
Neu-Laxova Syndrome	Lissencephaly, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Abnormality of neuro...	ORPHA:2671
Fanconi Anemia, Complementation Group A	Abnormal heart morphology, Anemic pallor, Bruising susceptibility	OMIM:227650
Tay-Sachs Disease	Pallor, Cherry red spot of the macula	OMIM:272800
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Ventriculomegaly, Polymicrogyria, Periventricular heterotopia, Agenesis of corpus callosum, Pachy...	ORPHA:468631
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Long Qt Syndrome 15	Left ventricular noncompaction	OMIM:616249
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial septal defect, Pulmonary...	OMIM:265380
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:214950
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Gray matter heterotopia, Agenesis of corpus callosum	ORPHA:314679
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly	OMIM:618394
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepatoblastoma, Jaun...	ORPHA:731
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Splenomegaly, Hydronephrosis, Thyroid lymp...	OMIM:235255
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Intrauterine growth retardation, Perimembranous ventricular septal defect, Contracture of the dis...	ORPHA:83617
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Lateral ventricle dilatation, Gliosis	OMIM:607485
6Q Terminal Deletion Syndrome	Polymicrogyria, Periventricular heterotopia, Abnormality of neuronal migration, Colpocephaly, Gra...	ORPHA:75857
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	ORPHA:210122
Congenital Myasthenic Syndrome	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Cyanosis, Distal low...	ORPHA:98914
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation	OMIM:620075
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:602782
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Hypoplastic tricuspid valve, Congenital defect of the pericardium, Tetra...	ORPHA:2255
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Renal tu...	ORPHA:79240
Hyperlipoproteinemia, Type Id	Hepatomegaly, Recurrent pancreatitis, Pancreatitis, Splenomegaly	OMIM:615947
Combined Oxidative Phosphorylation Deficiency 19	Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ...	OMIM:615595
Pulmonary Alveolar Microlithiasis	Oxygen desaturation on exertion, Calcification of the aorta, Peripheral edema, Cyanosis, Mitral v...	ORPHA:60025
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat...	OMIM:255120
Pediatric Systemic Lupus Erythematosus	Nephritis, Microangiopathic hemolytic anemia, Ascites, Lymphopenia, Leukopenia, Dark urine, Renal...	ORPHA:93552
Diamond-Blackfan Anemia 1	Intrauterine growth retardation, Pallor, Ventricular septal defect, Coarctation of aorta, Atrial ...	OMIM:105650
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
Alg9-Cdg	Hypoplasia of the musculature, Abnormal heart morphology, Oligohydramnios, Abnormal renal artery ...	ORPHA:79328
Hurler-Scheie Syndrome	Hepatomegaly, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine	OMIM:607015
Adams-Oliver Syndrome 5	Portal vein thrombosis, Hypersplenism, Right ventricular hypertrophy, Splenomegaly	OMIM:616028
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Autoinflammation With Arthritis And Dyskeratosis	Hepatomegaly, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia	OMIM:617388
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Cardiomegaly, Stroke, Sinus venosus ...	ORPHA:1478
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ...	OMIM:605911
Microphthalmia, Syndromic 2	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Contracture of the proxi...	OMIM:300166
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Splenomegaly, Anemia, Hypercalciuria, Polyuria, Hepatomegaly	OMIM:239200
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Dilated fourth ventricle	OMIM:615960
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Multiple Mitochondrial Dysfunctions Syndrome 7	Partial atrioventricular canal defect, Cyanosis	OMIM:620423
Ververi-Brady Syndrome	Intrauterine growth retardation, Transposition of the great arteries	OMIM:617982
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventriculomegaly, Periventricular heterotopia	OMIM:618974
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Bile duct proliferation, Cleft palate	OMIM:611561
Telangiectasia, Hereditary Hemorrhagic, Type 4	Arteriovenous fistulas of celiac and mesenteric vessels, Tongue telangiectasia, Dilatation of mes...	OMIM:610655
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Hepati...	ORPHA:171
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Ventriculomegaly, Dilated third ventricle, Hydrocephalus	ORPHA:500055
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lateral ventricle dilatation	OMIM:618914
Thakker-Donnai Syndrome	Tetralogy of Fallot, Intrauterine growth retardation, Congenital diaphragmatic hernia, Ventricula...	ORPHA:1780
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatic failure, Ascites, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Hydronep...	ORPHA:1655
Hereditary Elliptocytosis	Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Elliptocytosis, Splenomegaly, Re...	ORPHA:288
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Absent pulmonary artery, Tetralogy of Fallot, Death in childhood, Ventricular septal defect, Coar...	OMIM:600460
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Lateral ventricle dilatation	ORPHA:488627
Restrictive Dermopathy 2	Intrauterine growth retardation, Cyanosis	OMIM:619793
Peroxisome Biogenesis Disorder 1B	Hepatic fibrosis, Hyperoxaluria, Renal cyst, Cirrhosis, Hepatomegaly	OMIM:601539
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a...	OMIM:253800
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Agenesis of corpus callosum	OMIM:620113
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Glycosu...	OMIM:616026
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Renal hypoplasia, Splenomegaly	OMIM:612918
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Hematuria, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:520
Sporadic Pheochromocytoma/Secreting Paraganglioma	Pallor, Flushing, Cerebral hemorrhage	ORPHA:276621
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Ly...	ORPHA:39812
Orofaciodigital Syndrome I	Abnormal cortical gyration, Myelomeningocele, Agenesis of corpus callosum, Hypothalamic hamartoma...	OMIM:311200
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Ventriculomegaly, Colpocephaly, Agenesis o...	OMIM:617260
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Beta-Ketothiolase Deficiency	Pallor, Dehydration, Edema	ORPHA:134
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect	OMIM:243440
Dermatomyositis	Vasculitis, Periorbital edema, Erythema, Skin ulcer, V-sign, Dry skin, Inflammatory myopathy, Cut...	ORPHA:221
Gray Platelet Syndrome	Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia	OMIM:139090
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood, Dehydration	OMIM:246450
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, B lymphocytopenia, Neutropenia, Enteroviral hepatitis, Anemia, T lymphocyt...	OMIM:300755
Acromelic Frontonasal Dysostosis	Ventriculomegaly, Hypopituitarism, Periventricular nodular heterotopia, Encephalocele, Agenesis o...	OMIM:603671
Gaucher Disease, Type Iiic	Cardiomegaly, Hepatomegaly, Pancytopenia, Splenomegaly	OMIM:231005
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
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
Tetrasomy 5P	Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, Redundant neck skin	ORPHA:3309
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta...	OMIM:231680
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Agenesis of corpus callosum, Stillbirth, Gray matter heterotopia, Ane...	OMIM:236680
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Spondyloenchondrodysplasia	Decreased response to growth hormone stimulation test, Ventriculomegaly, Abnormal lateral ventric...	ORPHA:1855
Niemann-Pick Disease, Type C2	Fetal ascites, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, J...	OMIM:607625
Hypermanganesemia With Dystonia 1	Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ...	OMIM:613280
Interstitial Lung And Liver Disease	Aminoaciduria, Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate ami...	OMIM:615486
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Ascit...	ORPHA:333
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Aminoaciduria, Nephrocalcinosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Schistocy...	OMIM:616084
Infection-Related Hemolytic Uremic Syndrome	Generalized edema, Pallor, Myocarditis, Pleural empyema, Edema	ORPHA:544482
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal ca...	ORPHA:96147
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Hepatitis, Leukocytosis, Splenomegaly, Autoimmune hemolytic an...	OMIM:620565
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia...	OMIM:615688
Lymphatic Filariasis	Urethral obstruction, Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Hema...	ORPHA:2035
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia	OMIM:619694
Autosomal Recessive Malignant Osteopetrosis	Pulmonary artery stenosis, Abnormal pulmonary valve morphology, Bruising susceptibility, Pallor	ORPHA:667
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Conotruncal defect	ORPHA:40366
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis, Foam cells	ORPHA:747
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Multiple Myeloma	Nephropathy, Acute kidney injury, Splenomegaly, Lymphadenopathy, Anemia, Nephrotic syndrome	ORPHA:29073
Immunodeficiency 31C	Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Impaired lymphocyte tran...	OMIM:614162
Chronic Thromboembolic Pulmonary Hypertension	Hypocapnia, Right atrial enlargement, Right ventricular dilatation, Edema	ORPHA:70591
Telangiectasia, Hereditary Hemorrhagic, Type 1	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Telangiectasia, Arteriovenous fistu...	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
Irida Syndrome	Pallor	ORPHA:209981
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cirrhosis, Hepatomegaly, Jau...	OMIM:301068
Slc35A2-Cdg	Lateral ventricle dilatation, Dandy-Walker malformation	ORPHA:356961
Basel-Vanagaite-Smirin-Yosef Syndrome	Dilated third ventricle, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:464738
Hyperlipoproteinemia, Type I	Jaundice, Hepatosplenomegaly, Acute pancreatitis, Splenomegaly	OMIM:238600
Degcags Syndrome	Premature graying of hair, Intrauterine growth retardation, Pallor, Patent foramen ovale, Ventric...	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	Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Carotid artery occlus...	ORPHA:740
Bronchial Neuroendocrine Tumor	Hepatomegaly, Hepatic failure, Chronic noninfectious lymphadenopathy	ORPHA:97287
Hypoadrenocorticism, Familial	Cyanosis	OMIM:240200
Aicardi-Goutières Syndrome	Hypertrophic cardiomyopathy, Moyamoya phenomenon, Dry skin, Calcification of the aorta, Cutis mar...	ORPHA:51
Carpenter Syndrome 1	Joint contracture of the hand, Tetralogy of Fallot, Ventricular septal defect, Transposition of t...	OMIM:201000
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert...	OMIM:618280
Igg4-Related Kidney Disease	Chronic kidney disease, Lymphadenitis, Abnormal mesentery morphology, Urethritis, Hematuria, Tubu...	ORPHA:449395
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal cortical gyration, Lateral ventricle dilatation, Polymicrogyria, Pachygyria, Death in ch...	OMIM:210710
Familial Mediterranean Fever	Nephropathy, Nephrocalcinosis, Acute hepatic failure, Ascites, Leukocytosis, Splenomegaly, Protei...	ORPHA:342
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly	OMIM:601979
Meckel Syndrome, Type 6	Hepatic fibrosis, Occipital encephalocele, Cleft upper lip, Absent gallbladder, Hepatic cysts, An...	OMIM:612284
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Pallor	ORPHA:263455
Orofaciodigital Syndrome Vi	Polymicrogyria, Periventricular nodular heterotopia, Agenesis of corpus callosum, Hypothalamic ha...	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	Gray matter heterotopia, Dandy-Walker malformation, Agenesis of corpus callosum	OMIM:605039
Myopathy, Mitochondrial, And Ataxia	Increased variability in muscle fiber diameter, Distal amyotrophy, Pallor	OMIM:617675
Immunodeficiency 92	Leukocytosis, Sclerosing cholangitis, Lymphocytosis, Decreased proportion of class-switched memor...	OMIM:619652
Neuroblastoma	Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid, Elevated urinary cate...	ORPHA:635
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Stomatocytosis, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia	OMIM:608885
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Micropenis, Histiocytosis, Enlarged kidney	ORPHA:168569
Lymphoid Interstitial Pneumonia	Hepatomegaly, Mediastinal lymphadenopathy, Enlarged kidney	ORPHA:79128
Fanconi Anemia, Complementation Group D2	Prolonged G2 phase of cell cycle, Hydrocephalus, Agenesis of corpus callosum	OMIM:227646
Letterer-Siwe Disease	Jaundice, Pallor	OMIM:246400
Argininemia	Portal fibrosis, Micronodular cirrhosis, Cholestasis, Oroticaciduria, Hepatomegaly, Diaminoacidur...	OMIM:207800
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Hepatomegaly, Splenomegaly, Neutrophilia	OMIM:612852
Syndromic Diarrhea	Hepatic fibrosis, Renal hypoplasia, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypoplas...	ORPHA:84064
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Reduced red cel...	OMIM:102700
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Ascites, Portal hypertension, Sp...	ORPHA:186
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis	OMIM:615238
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hydronephrosis, Iron de...	ORPHA:100078
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Splenome...	ORPHA:158048
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Polycythemia, Ab...	ORPHA:309854
Peroxisome Biogenesis Disorder 5A (Zellweger)	Polymicrogyria, Death in infancy, Agenesis of corpus callosum, Death in adolescence, Colpocephaly...	OMIM:614866
Biotinidase Deficiency	Hepatomegaly, Organic aciduria, Splenomegaly	OMIM:253260
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Cholecystitis, Splenomegaly, Macrocytic anemia, Prolonged neon...	OMIM:615512
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Left ventricular hypertrophy, Orange d...	ORPHA:31150
Classical Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Poor wound healing, Bruising susceptibility, Dilatatio...	ORPHA:287
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Lateral ventricle dilatation	ORPHA:293725
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Splenomegaly, Hepa...	OMIM:610717
Hereditary Pheochromocytoma-Paraganglioma	Pallor, Flushing, Cerebral hemorrhage	ORPHA:29072
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Pancreatitis, Lymphadenopathy, Thromboc...	ORPHA:499009
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Increased mean platelet volume	OMIM:153670
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated circulating hepatic transaminase concentration, Hepatitis, Splenomegaly, Autoimmune hemo...	ORPHA:37042
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood, Hydrops fetalis, Dehydration	OMIM:557000
Polycythemia Vera	Acute leukemia, Polycythemia, Portal hypertension, Splenomegaly, Leukocytosis, Portal vein thromb...	ORPHA:729
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Postinfectious Vasculitis	Bacterial endocarditis, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis marmorata, I...	ORPHA:48435
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
Mosaic Trisomy 1	Polymicrogyria, Lateral ventricle dilatation, Agenesis of corpus callosum	ORPHA:1692
Aneurysm Of Sinus Of Valsalva	Stroke, Bacterial endocarditis, Dilatation of the sinus of Valsalva, Edema	ORPHA:1054
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Distal Deletion 10Q	Spina bifida occulta, Lateral ventricle dilatation	ORPHA:96148
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova...	OMIM:300967
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Elevated circulating hepatic transaminase concentration, Decr...	OMIM:232200
Wars2-Related Combined Oxidative Phosphorylation Defect	Ventriculomegaly, Dilated fourth ventricle, Lateral ventricle dilatation	ORPHA:572798
Hereditary Folate Malabsorption	Pallor, Skeletal muscle atrophy	ORPHA:90045
Surfactant Metabolism Dysfunction, Pulmonary, 3	Hypoxemia, Cyanosis, Death in infancy, Neonatal death	OMIM:610921
Reynolds Syndrome	Elevated circulating hepatic transaminase concentration, Biliary cirrhosis, Cholestasis, Lymphope...	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, Transposition of the great arteries, Patent ductus arteriosus, E...	OMIM:313850
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Limb hypertonia, Cyanosis	OMIM:619580
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Cog5-Cdg	Lateral ventricle dilatation	ORPHA:263487
Holoprosencephaly	Spinal dysraphism, Panhypopituitarism, Encephalocele, Abnormality of neuronal migration, Hydrocep...	ORPHA:2162
Carney Triad	Ascites, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Intrauterine growth retardation, Pallor	OMIM:301310
Wilson Disease	Acute hepatic failure, Hepatic steatosis, Cirrhosis, Elevated circulating alanine aminotransferas...	OMIM:277900
Porphyria, Congenital Erythropoietic	Cholelithiasis, Reduced erythrocyte uroporphyrinogen III cosynthase activity, Splenomegaly, Red u...	OMIM:263700
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He...	ORPHA:167
Sitosterolemia 1	Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb...	OMIM:210250
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l...	ORPHA:100075
Hennekam Syndrome	Ascites, Horseshoe kidney, Lymphopenia, Splenomegaly, Lymphadenopathy, Pulmonary lymphangiectasia...	ORPHA:2136
Familial Mediterranean Fever	Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Peritonitis, Neutrophilia, Hepatomega...	OMIM:249100
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Polymicrogyria, Periventricular heterotopia, Partial agenesis of the cor...	OMIM:615948
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
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	Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Coa...	OMIM:618748
Cystic Fibrosis	Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Cirrhosis, Pancreatitis...	OMIM:219700
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Facial telangiectasia, Cerebral art...	OMIM:600376
Chime Syndrome	Erythema, Skin ulcer, Tetralogy of Fallot, Ventricular septal defect, Pulmonary valve atresia, Tr...	ORPHA:3474
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Lymphangioleiomyomatosis	Abnormal urinary color, Ascites, Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic sys...	ORPHA:538
Noonan Syndrome 14	Lateral ventricle dilatation	OMIM:619745
Congenital Disorder Of Glycosylation, Type Iig	Lateral ventricle dilatation	OMIM:611209
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	Death in adolescence, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619229
Neu-Laxova Syndrome 1	Yellow subcutaneous tissue covered by thin, scaly skin, Generalized edema, Joint contracture of t...	OMIM:256520
Laryngotracheoesophageal Cleft	Cyanosis	ORPHA:2004
Coffin-Lowry Syndrome	Abnormality of neuronal migration, Ventriculomegaly, Death in early adulthood	ORPHA:192
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hepatomegaly, Hypoplastic spleen, Abnormality of th...	ORPHA:699
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Microvesicular hepati...	OMIM:618278
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn...	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	Abnormal pancreas morphology, Renal insufficiency, Eosinophilia, Lymphadenopathy, Cholangitis, Re...	ORPHA:449432
Congenital Dyserythropoietic Anemia Type Iii	Pallor	ORPHA:98870
Ethylene Glycol Poisoning	Pulmonary edema, Cerebral edema, Facial palsy, Cyanosis	ORPHA:31826
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Brucellosis	Hypersplenism, Abnormality of the liver, Leukopenia, Splenomegaly, Leukocytosis, Thrombocytosis, ...	ORPHA:1304
Orofaciodigital Syndrome Type 14	Dilated third ventricle, Dilated fourth ventricle, Periventricular heterotopia, Partial agenesis ...	ORPHA:434179
Autosomal Recessive Spastic Paraplegia Type 11	Hypothalamic atrophy, Lateral ventricle dilatation	ORPHA:2822
Phace Syndrome	Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal cerebral artery mo...	ORPHA:42775
Tsh-Secreting Pituitary Adenoma	Pericardial effusion, Pallor	ORPHA:91347
Primary Hyperoxaluria	Cutis marmorata, Acrocyanosis, Cardiomyopathy	ORPHA:416
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Ascites, Elevated circulating aspartate aminotransferase concentrat...	OMIM:619573
Non-Functioning Pituitary Adenoma	Pallor	ORPHA:91349
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Nephrocalcinosis, Renal hypoplasia, Renal artery stenosis, Splenomegaly, Hydroneph...	OMIM:617913
Sarcoidosis	Hepatic failure, Nephrocalcinosis, Decreased liver function, Abnormal lymph node morphology, Leuk...	ORPHA:797
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:608594
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Small pituitary gland, Ventriculomegaly, Lateral ventricle dilatation	OMIM:619479
Autoinflammatory Disease, Systemic, With Vasculitis	Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hep...	OMIM:620376
Bainbridge-Ropers Syndrome	Lateral ventricle dilatation, Death in infancy	OMIM:615485
Pagod Syndrome	Encephalocele, Death in infancy, Abnormality of neuronal migration, Spina bifida, Meningocele	ORPHA:991
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventriculomegaly, Periventricular heterotopia	OMIM:618870
Aicardi-Goutieres Syndrome 7	Hepatitis, Pancytopenia, Splenomegaly, Hepatic steatosis, Anemia, Generalized lymphadenopathy, Th...	OMIM:615846
Asparagine Synthetase Deficiency	Ventriculomegaly, Dilated fourth ventricle, 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	Ventriculomegaly, Neonatal death, Pachygyria, Gray matter heterotopia, Frontal polymicrogyria	OMIM:620024
Gaucher Disease Type 3	Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Thrombocytopenia, Hepatomegaly	ORPHA:77261
Cardiogenic Shock	Cyanosis, Hypoxemia, Edema	ORPHA:97292
Imerslund-Gräsbeck Syndrome	Pallor	ORPHA:35858
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Tubulointerstitial fibrosis, Lymphadenopathy, Neutropenia, Autoim...	OMIM:607944
Smith-Lemli-Opitz Syndrome	Periventricular heterotopia, Death in infancy, Colpocephaly, Hydrocephalus, Partial agenesis of t...	OMIM:270400
Panhypophysitis	Pallor	ORPHA:95513
Aicardi-Goutieres Syndrome 9	Lateral ventricle dilatation	OMIM:619487
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Anemic pallor, Edema	ORPHA:329971
Malakoplakia	Urinary bladder inflammation, Urinary hesitancy, Follicular hyperplasia, Hematuria, Proteinuria, ...	ORPHA:556
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Nephrol...	OMIM:269700
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation	OMIM:263520
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Pachygyria, Gray matter heterotopia, Subcortical band hetero...	OMIM:601390
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Colpocephaly	OMIM:620083
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Weaver Syndrome	Ventriculomegaly, Lateral ventricle dilatation	OMIM:277590
Sheehan Syndrome	Dry skin, Pallor	ORPHA:91355
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Coccidioidomycosis	Abnormality of the spleen, Abnormality of the liver, Renal insufficiency, Peritonitis, Eosinophil...	ORPHA:228123
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Ventriculomegaly	OMIM:617563
Pituitary Apoplexy	Pallor	ORPHA:95613
Gabriele-De Vries Syndrome	Lateral ventricle dilatation	OMIM:617557
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Incontinentia Pigmenti	Erythema, Pallor	OMIM:308300
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Peritonitis, Leukocytosis, Splenomegaly, Lymphadenopathy	ORPHA:32960
Prolactinoma	Pallor	ORPHA:2965
Choanal Atresia	Cyanosis	ORPHA:137914
Restrictive Dermopathy	Camptodactyly of finger, Intrauterine growth retardation, Multiple joint contractures, Transposit...	ORPHA:1662
Leptospirosis	Acute kidney injury, Hepatitis, Elevated serum transaminases during infections, Cellular urinary ...	ORPHA:509
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Splenomegaly, Hypercalciuria, Generalized lymphadenopathy, Hepatomegaly, Mediastina...	OMIM:181000
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Splenomegaly	OMIM:612132
Doors Syndrome	Polyhydramnios, Double outlet right ventricle	ORPHA:79500
Vici Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:242840
Galloway-Mowat Syndrome 1	Abnormality of neuronal migration, Ventriculomegaly, Dandy-Walker malformation, Pachygyria	OMIM:251300
Hyperoxaluria, Primary, Type I	Peripheral arterial stenosis, Cutis marmorata, Acrocyanosis, Dehydration	OMIM:259900
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Hypersplenism, Splenomegaly, Acute pro...	ORPHA:77293
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Pallor	OMIM:277400
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Vacuolated lymphocytes, Pancreatitis, Splenomegaly	ORPHA:565612
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Ascites, Pancytopenia, Leukopenia, Leukocytosis, Cholecystitis, Splenomegaly, He...	ORPHA:99827
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Dilated third ventricle	OMIM:619725
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Cyclic neutropenia, Decreased glomerular filtration rate, Chr...	OMIM:232240
Arima Syndrome	Gray matter heterotopia, Dilated fourth ventricle, Occipital meningocele	OMIM:243910
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Decreased proportion of CD8-positive...	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	Gray matter heterotopia, Gliosis	ORPHA:26791
Hypermobile Ehlers-Danlos Syndrome	Arterial dissection, Aortic root aneurysm, Bruising susceptibility, Striae distensae, Mitral valv...	ORPHA:285
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Subependymal cysts, Death in childhood, Polymicrogyria	OMIM:214100
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Lymphopenia, Leukopenia, Chronic hepatitis, Renal insuffici...	ORPHA:289390
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	Decreased response to growth hormone stimulation test, Lateral ventricle dilatation, Anterior pit...	ORPHA:177907
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Blau Syndrome	Nephropathy, Abnormality of the liver, Stage 5 chronic kidney disease, Splenomegaly, Lymphadenopa...	ORPHA:90340
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation	OMIM:618367
Fructose Intolerance, Hereditary	Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, Glycosuria, Transi...	OMIM:229600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lateral ventricle dilatation, Gliosis, Death in infancy	OMIM:300868
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Koolen-De Vries Syndrome	Gray matter heterotopia, Ventriculomegaly	OMIM:610443
Multiple Endocrine Neoplasia Type 2	Proximal amyotrophy, Pallor, Reduced subcutaneous adipose tissue	ORPHA:653
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Knee flexion contracture, Weakness of facial musculature	OMIM:617239
Beckwith-Wiedemann Syndrome	Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephrolith...	OMIM:130650
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation	OMIM:614098
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Hepatitis, Decreased proportion of naive T cells, Splenomegaly...	OMIM:619381
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Death in childhood, Death in infancy	OMIM:618426
Myasthenia Gravis	Myositis, Acrocyanosis	ORPHA:589
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
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
Miller-Dieker Lissencephaly Syndrome	Gray matter heterotopia, Agyria, Lissencephaly, Pachygyria	OMIM:247200
Fontaine Progeroid Syndrome	Periventricular heterotopia, Death in infancy, Neonatal death, Hydrocephalus, Gray matter heterot...	OMIM:612289
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Gray matter heterotopia, Ventriculomegaly	OMIM:620654
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of neuronal migration, Ventriculomegaly, Posterior pituitary hypoplasia	ORPHA:464311
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Systemic Lupus Erythematosus	Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Lymphadenopathy, Thrombocytopenia, Hemolytic...	ORPHA:536
Genitopatellar Syndrome	Pachygyria, Colpocephaly, Periventricular heterotopia, Agenesis of corpus callosum	OMIM:606170
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Microcytic anemia, Splenomegaly, Cardiom...	OMIM:256040
Helsmoortel-Van Der Aa Syndrome	Ventriculomegaly, Lateral ventricle dilatation, Decreased response to growth hormone stimulation ...	OMIM:615873
Vater/Vacterl Association	Tetralogy of Fallot, Intrauterine growth retardation, Ventricular septal defect, Transposition of...	OMIM:192350
Behçet Disease	Pancreatitis, Splenomegaly, Renal insufficiency, Lymphadenopathy	ORPHA:117
Kabuki Syndrome 1	Lateral ventricle dilatation, Hydrocephalus	OMIM:147920
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Elevated circulating hepatic transaminase concentration, L...	ORPHA:99826
Chromosome 1P36 Deletion Syndrome, Distal	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Pachygyria	OMIM:607872
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Lymphadenopathy, Thrombocytopenia, Retroperitoneal fibrosis	ORPHA:79078
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Abnormality of neuronal migration, Bilateral perisylvian polymicrogy...	ORPHA:98889
Igg4-Related Ophthalmic Disease	Eosinophilia, Pancreatitis, Lymphadenopathy, Cholangitis, 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, Knee flexion contracture, Cutis laxa, Transposition of the great arteries...	OMIM:614976
Familial Dysautonomia	Acrocyanosis	ORPHA:1764
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Progressive ventriculomegaly, Lateral ventricle dilatation, Polymicrogyria, Dys...	ORPHA:500150
African Trypanosomiasis	Urinary incontinence, Hepatosplenomegaly, Renal insufficiency, Splenomegaly, Lymphadenopathy, Hep...	ORPHA:3385
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation	OMIM:300896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Muscular dystrophy, Pallor	OMIM:253280
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia	ORPHA:453499
Pitt-Hopkins Syndrome	Acrocyanosis	ORPHA:2896
Plague	Hepatomegaly, Enlarged mesenteric lymph node, Lymphadenitis, Splenomegaly	ORPHA:707
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Simpson-Golabi-Behmel Syndrome, Type 1	Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Congenital diaphragmati...	OMIM:312870
Goodpasture Syndrome	Pallor, Cyanosis	OMIM:233450
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Increased urinary cortisol level, Neop...	ORPHA:99889
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	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	Lateral ventricle dilatation, Neonatal death, Hydrocephalus, Anterior pituitary hypoplasia, Aqued...	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 marmorata, Cutis laxa, Acrocyanosis	OMIM:303600
Choreoacanthocytosis	Lateral ventricle dilatation	ORPHA:2388
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Polymicrogyria, Periventricular heterotopia, Lateral ventricle dilatation, Agenesis of corpus cal...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Polymicrogyria, Periventricular heterotopia, Lateral ventricle dilatation, Agenesis of corpus cal...	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 6 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A genome-wide CRISPR screen identifies WDFY3 as a regulator of macrophage efferocytosis.	Nature communications (December 2022)	Wdfy3^{tm1a(KOMP)Mbp}	PMC9789999
WDFY3 mutation alters laminar position and morphology of cortical neurons.	Molecular autism (June 2022)	Wdfy3^{tm1a(KOMP)Mbp}	PMC9219247
Wdfy3 regulates glycophagy, mitophagy, and synaptic plasticity.	Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism (June 2021)	Wdfy3^{tm1a(KOMP)Mbp}	PMC8669292
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

MicroCT E14.5-E15.5

X-ray

X-ray

Human diseases caused by Wdfy3 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data