Gene Summary

Name:
WD repeat and FYVE domain containing 3
Synonyms:
2610509D04Rik,  Ggtb3,  Alfy,  Bchs,  D5Ertd66e,  Bwf1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
enlarged liver Wdfy3em1(IMPC)Mbp HET Late adult 0.00
abnormal liver morphology Wdfy3em1(IMPC)Mbp HET Late adult 0.00
embryonic growth retardation Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
abnormal facial morphology Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
enlarged spleen Wdfy3em1(IMPC)Mbp HET Late adult 0.00
enlarged lymph nodes Wdfy3em1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
enlarged lymph nodes Wdfy3em1(IMPC)Mbp HET Late adult 0.00
abnormal lymph node morphology Wdfy3em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Wdfy3em1(IMPC)Mbp HOM   Early adult 0.00
abnormal blood vessel morphology Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
abnormal spleen morphology Wdfy3em1(IMPC)Mbp HET Late adult 0.00
abnormal kidney morphology Wdfy3em1(IMPC)Mbp HET Late adult 0.00
small kidney Wdfy3em1(IMPC)Mbp HET Late adult 0.00
abnormal liver size Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
edema Wdfy3em1(IMPC)Mbp HOM E15.5 0.00
abnormal lymph node morphology Wdfy3em1(IMPC)Mbp HET Late adult 0.00

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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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

54 Images

X-ray

XRay Images Whole Body Lateral Orientation

18 Images

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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.

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
Microcephaly OMIM:617520
Non-Specific Syndromic Intellectual Disability
Microcephaly, Abnormal corpus callosum morphology, Frontal cortical atrophy ORPHA:528084

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Pachygyria, Megalencephaly OMIM:614499
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Lissencephaly, Pachy... OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Microcephaly, Pachygyria, Cortical... OMIM:615412
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver OMIM:235550
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormal corpus callosum morphology, Schizencephaly, Gray matter heterotopia, Microcephaly, Lisse... OMIM:604317
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormal corpus callosum morphology, Ventriculomegaly, Microcephaly, Cortical dysplasia, Hydrocep... OMIM:618709
Sub-Cortical Nodular Heterotopia
Subcortical heterotopia, Abnormality of the basal ganglia, Agenesis of corpus callosum, Abnormal ... ORPHA:101029
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Abnormal cerebral morphology, Small cerebral cortex, Microcephaly, Simplified gyral pattern, Abno... ORPHA:329228
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Ventriculomegaly, Gray matter heterotopia, Partial age... OMIM:604213
Lissencephaly 1
Agyria, Gray matter heterotopia, Subcortical band heterotopia, Lissencephaly, Pachygyria, Seconda... OMIM:607432
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Band Heterotopia
Agenesis of corpus callosum, Ventriculomegaly, Gray matter heterotopia, Subcortical band heteroto... OMIM:600348
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Microlissencephaly
Cerebral dysmyelination, Subcortical heterotopia, Periventricular heterotopia, Microcephaly, Liss... ORPHA:1083
Lissencephaly, X-Linked, 1
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Lissencephaly, Pachygyria, Death in... OMIM:300067
Microcephaly 7, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:612703
Microcephaly 12, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern OMIM:616080
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Polymicrogyria, Megalencephaly, Ventriculomegaly, Hydrocephalus OMIM:615938
Lissencephaly 3
Agyria, Agenesis of corpus callosum, Gray matter heterotopia, Microcephaly, Lissencephaly, Pachyg... OMIM:611603
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Hypoplasia of the corpus callosum, Ventriculomegaly, Hemimegalencephaly, Hydrocephalus, Polymicro... OMIM:615937
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Progressive microcephaly, Periventricular nodular heterotopia, Periventricular heterotopia, Micro... OMIM:608097
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly OMIM:206400
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Ventriculomegaly, Gray matter heterotopia, Pachygyria, Enlarged sylvian cistern ORPHA:1084
Immunodeficiency 104
Lymphadenopathy, T lymphocytopenia, Splenomegaly, Hepatomegaly OMIM:608971
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Hepatomegaly ORPHA:46532
Hemoglobin H Disease
Splenomegaly, Hepatomegaly, HbH hemoglobin, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Tyrosinemia Type 1
Generalized aminoaciduria, Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carc... ORPHA:882
Periventricular Nodular Heterotopia 7
Gray matter heterotopia, Periventricular nodular heterotopia, Cortical dysplasia, Hypoplasia of t... OMIM:617201
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Ventriculomegaly, Lissencephaly, Thick cerebral cortex, Hypoplasia of the corpus callosum, Perive... OMIM:618677
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Agenesis of corpus callosum, Microcephaly, Lissencephaly, Frontoparietal cortical dysplasia, Pach... OMIM:610031
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Gray matter heterotopia, Dysgyria, Hydrocephalus, Type II lissencephaly,... ORPHA:352682
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Hepatic fibrosis OMIM:614480
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Lissencephaly, Fron... OMIM:614039
Lissencephaly 5
Hydrocephalus, Occipital encephalocele, Porencephalic cyst, Gray matter heterotopia, Subcortical ... OMIM:615191
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Lymphadenopathy OMIM:618852
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Periventricular Nodular Heterotopia 8
Microcephaly, Periventricular nodular heterotopia OMIM:618185
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Ventriculomegaly, Lissencephaly,... ORPHA:2185
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Mismatch Repair Cancer Syndrome 4
Agenesis of corpus callosum, Gray matter heterotopia OMIM:619101
Bilateral Striopallidodentate Calcinosis
Cerebral calcification, Ventriculomegaly, Microcephaly, Abnormality of neuronal migration ORPHA:1980
Lissencephaly 4
Microcephaly, Lissencephaly, Simplified gyral pattern, Agenesis of corpus callosum OMIM:614019
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Nephronophthisis 19
Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly,... OMIM:616217
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Bence Jones Proteinuria, Anemia, Abnormal B cell count, Lymphadenopat... ORPHA:100024
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the corpus callosum, Abnormal caudate nucleus ... ORPHA:300573
Hemimegalencephaly
Focal cortical dysplasia, Hyperintensity of cerebral white matter on MRI, Gray matter heterotopia... ORPHA:99802
Microcephaly 3, Primary, Autosomal Recessive
Microcephaly, Simplified gyral pattern, Small cerebral cortex OMIM:604804
Kerion Celsi
Lymphadenopathy ORPHA:499
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Microcephaly, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Pol... OMIM:618730
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Microcephaly, Periventricular nodular heterotopia OMIM:618572
Kimura Disease
Follicular hyperplasia, Lymphadenopathy ORPHA:482
Portal Hypertension, Noncirrhotic, 1
Elevated hepatic transaminase, Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Galactosuria OMIM:230350
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly, Pachygyria OMIM:614870
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Splenomegaly, Hepatomegaly ORPHA:417
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Galactose Epimerase Deficiency
Aminoaciduria, Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Immunodeficiency 7
Lymphadenopathy OMIM:615387
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Central Neurocytoma
Cerebral calcification, Abnormal lateral ventricle morphology, Hydrocephalus ORPHA:73256
Symmetrical Thalamic Calcifications
Cerebral calcification, Microcephaly, Abnormality of neuronal migration ORPHA:1314
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Lymphadenopathy, Elevated hepatic transaminase, Hepatomegaly OMIM:615895
Microcephaly 5, Primary, Autosomal Recessive
Agenesis of corpus callosum, Small cerebral cortex, Ventriculomegaly, Simplified gyral pattern, M... OMIM:608716
Holoprosencephaly 5
Central diabetes insipidus, Semilobar holoprosencephaly, Holoprosencephaly, Lobar holoprosencepha... OMIM:609637
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Periventricular Nodular Heterotopia 6
Gray matter heterotopia, Periventricular nodular heterotopia OMIM:615544
Amyloidosis, Familial Visceral
Nephrotic syndrome, Cholestasis, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Nephropathy OMIM:105200
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Subependymal Nodular Heterotopia
Myelomeningocele, Focal cortical dysplasia, Occipital encephalocele, Nasofrontal encephalocele, G... ORPHA:101030
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Cortical Malformations, Occipital
Polymicrogyria, Pachygyria OMIM:614115
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites ORPHA:100025
Ceroid storage disease
Hepatic failure, Abnormality of the spleen OMIM:214200
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Microcephaly, Polymicrogyria, Neonatal death OMIM:619602
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly, Trimethylaminuria OMIM:602079
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Elevated hepatic transaminase, C... ORPHA:79301
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Autosomal Recessive Primary Microcephaly
Agenesis of corpus callosum, Hypoplasia of the frontal lobes, Gray matter heterotopia, Ventriculo... ORPHA:2512
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Intellectual Developmental Disorder, X-Linked 103
Polymicrogyria, Dilation of lateral ventricles OMIM:300982
Brain Small Vessel Disease 2
Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Ventriculomegaly, Polymicrogyria OMIM:614483
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Decreased proportion of CD4-positive helpe... ORPHA:543
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Reduced natural killer cell count OMIM:618261
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Colpocephaly, Gray matter heterotopia, Ventriculomegaly, Simplified ... OMIM:615219
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating alanine aminotransferase concentration, Cholestasis, Hepatic bridging fibros... OMIM:619658
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Hyperintensity of cerebral white matter on MRI, Thick cerebral cortex... ORPHA:65683
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Dilation of lateral ventricles, Agenesis of corpus callosum, Hydrocephalus OMIM:300864
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Agenesis of corpus callosum, Occipital encephalocele, Anencephaly, Gray matter heterotopia, Ventr... OMIM:615287
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, Splenomegaly, ... OMIM:619375
Retinitis Pigmentosa 59
Micropenis, Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency OMIM:613861
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Congenital Muscular Dystrophy Without Intellectual Disability
Ventriculomegaly, Gray matter heterotopia, Microcephaly, Pachygyria, Abnormal cerebral white matt... ORPHA:370980
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic failure, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Unilateral Hemispheric Polymicrogyria
Thick cerebral cortex, Dilation of lateral ventricles, Cortical dysplasia, Cerebral hypoplasia ORPHA:101071
Bile Acid Synthesis Defect, Congenital, 5
Hepatic failure, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemi... OMIM:616278
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Polyrrhinia
Dilation of lateral ventricles, Abnormal third ventricle morphology ORPHA:141091
Pontocerebellar Hypoplasia, Type 15
Agenesis of corpus callosum, Simplified gyral pattern, Partial agenesis of the corpus callosum, H... OMIM:619302
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Nephrotic syndrome, Hepatosplenomegaly, Elevated circulat... OMIM:615559
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Acalvaria
Holoprosencephaly, Spina bifida, Abnormality of neuronal migration, Hydrocephalus ORPHA:945
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Cirrhosis, Neonatal cholesta... OMIM:214900
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volume, Hypochromia OMIM:615234
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Type II lissencephaly, Ventriculomegaly, Hydrocephalus OMIM:614830
Granulomatous Slack Skin
Abnormality of the lymph nodes, Nephrocalcinosis, Acute kidney injury ORPHA:33111
Oculocerebrocutaneous Syndrome
Agenesis of corpus callosum, Gray matter heterotopia, Dandy-Walker malformation, Orbital encephal... OMIM:164180
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Elevated hepatic transaminase, Cirrhosis, Hepatic fibrosis OMIM:613313
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly OMIM:605911
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of urine homeostasis, Bili... ORPHA:1414
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Klatskin Tumor
Cholangiocarcinoma, Hepatomegaly, Extrahepatic cholestasis, Jaundice, Lymphadenopathy ORPHA:99978
Heme Oxygenase 1 Deficiency
Elevated circulating alanine aminotransferase concentration, Hematuria, Proteinuria, Thrombocytos... OMIM:614034
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Ventriculomegaly, Death in childhood, Dandy-Walker malformation, Lissencephaly, Pachygyri... OMIM:613153
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Immunodeficiency 72 With Autoinflammation
Increased proportion of memory T cells, Hepatosplenomegaly, Lymphadenopathy, Increased B cell count OMIM:618982
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Agenesis of corpus callosum, Frontal encephalocele, Microcephaly, Lissence... ORPHA:1528
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Lissencephaly 6 With Microcephaly
Periventricular heterotopia, Ventriculomegaly, Simplified gyral pattern, Lissencephaly, Microceph... OMIM:616212
Intellectual Developmental Disorder, Autosomal Dominant 13
Microcephaly, Pachygyria, Abnormality of neuronal migration, Hypoplasia of the corpus callosum OMIM:614563
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Increased urinary porphobilinogen, Jaundice, Elevated urinary delta-a... OMIM:121300
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia OMIM:613101
Acromelic Frontonasal Dysostosis
Agenesis of corpus callosum, Choroid plexus cyst, Periventricular nodular heterotopia, Hypopituit... OMIM:603671
Chiari Malformation Type Ii
Myelomeningocele, Agenesis of corpus callosum, Gray matter heterotopia, Spina bifida, Hydrocephal... OMIM:207950
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Ele... OMIM:616828
Harderoporphyria
Red urine, Splenomegaly, Hepatomegaly, Increased urine harderoporphyrin level, Increased urinary ... OMIM:618892
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Polymicrogyria, Megalencephaly, Hydrocephalus ORPHA:83473
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis ORPHA:75234
Lissencephaly 2
Microcephaly, Lissencephaly, Thick cerebral cortex, 4-layered lissencephaly OMIM:257320
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Ascites, Decreased liver function, Hepatomegaly, Jaundice, Elevated hepatic tr... OMIM:301045
Carcinoma Of Esophagus
Lymphadenopathy ORPHA:70482
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Lissencephaly Syndrome, Norman-Roberts Type
Cerebral calcification, Agenesis of corpus callosum, Primary microcephaly, Hypoplasia of the corp... ORPHA:89844
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Elevated hepatic transaminase, Ascites, Cardiome... ORPHA:858
Immunodeficiency, Common Variable, 2
Lymphadenopathy, Follicular hyperplasia, Splenomegaly, Hepatomegaly OMIM:240500
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Lissencephaly 8
Occipital encephalocele, Ventriculomegaly, Microcephaly, Lissencephaly, Hypoplasia of the corpus ... OMIM:617255
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Agenesis of corpus callosum, Periventricular heterotopia, Ventriculomegaly, Abnormal periventricu... OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration OMIM:608840
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Nephrotic syndrome, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Autoimmune thrombocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper... OMIM:300853
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly ORPHA:158
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Microcephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Dilati... OMIM:617751
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly, Hypoplasia of the corpus callosum ORPHA:401815
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Eleva... OMIM:619463
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, ... OMIM:615122
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Reduced amygdala volume, Hypoplastic hippocampus, Death in childhood, Microcephaly, Partial agene... OMIM:619517
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Walker-Warburg Syndrome
Abnormal cortical gyration, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissence... ORPHA:899
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Frontal encephalocele, Lissencephaly, Absent septum pellucidum, Arrh... OMIM:218670
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Agyria, Hydrocephalus, Subcortical heterotopia, Gray matter heterotopia, Ventriculomegaly, Dandy-... OMIM:614643
Glycogen Storage Disease Vi
Increased hepatic glycogen content, Elevated hepatic transaminase, Hepatomegaly OMIM:232700
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormality of the pancreas, Neutrophilia, Anemia, Elevated hepatic transaminase, Liver abscess, ... ORPHA:54251
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly ORPHA:664
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hepatic failure, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphad... OMIM:308240
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Hypotonia, Infantile, With Psychomotor Retardation
Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:616816
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Agenesis of corpus callosum, Microcephaly, Dandy-Walker malformation, Spina bifida occulta, Dilat... OMIM:618736
Congenital Muscular Dystrophy With Cerebellar Involvement
Agenesis of corpus callosum, Dilated fourth ventricle, Occipital encephalocele, Gray matter heter... ORPHA:370959
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly OMIM:607906
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Dilation of lateral ventricles, Diffuse cerebral atrophy ORPHA:363654
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Isolated Polycystic Liver Disease
Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas, Multiple renal cysts ORPHA:2924
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Pyruvate Dehydrogenase E1-Alpha Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Basal ganglia cysts, Basal ganglia gliosis, Basal ... ORPHA:79243
Immunodeficiency 54
Lymphadenopathy, Splenomegaly, Hepatomegaly, Reduced natural killer cell count OMIM:609981
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Martsolf Syndrome 2
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:619420
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Microcephaly, Abnormal basal ganglia MRI signal i... ORPHA:79326
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Agenesis of corpus callosum, Periventricular heterotopia, Ventriculomegaly... ORPHA:255138
Intellectual Developmental Disorder, X-Linked 12
Ventriculomegaly, Microcephaly, Gliosis, Abnormality of neuronal migration, Abnormal cerebral whi... OMIM:300957
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Pleural Mesothelioma
Lymphadenopathy, Hepatomegaly ORPHA:50251
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Anemia, Lym... ORPHA:507
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Renal cyst, Portal hypertension, Periportal fibrosis, Pancreatic cysts, Splenome... OMIM:263200
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemiparkinsonism-Hemiatrophy Syndrome
Dilation of lateral ventricles, Cerebral cortical hemiatrophy ORPHA:306669
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Pseudomyxoma Peritonei
Lymphadenopathy, Abnormality of the peritoneum, Ascites ORPHA:26790
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Cyanosis, Transient Neonatal
Hepatomegaly, Jaundice, Anemia, Reticulocytosis, Methemoglobinemia OMIM:613977
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Poretti-Boltshauser Syndrome
Abnormal periventricular white matter morphology, Gray matter heterotopia, Dilated fourth ventricle OMIM:615960
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Cerebral atrophy, Agenesis of corpus callosum, Dilated third ventricle, Leukoencephalopathy, Simp... OMIM:619244
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Elevated... OMIM:613027
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Cervical lymphadenopathy, Abnormally low T cell receptor excision circle level OMIM:618987
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Nephrotic syndrome, Thrombocytopenia, Splenomegaly OMIM:615846
Peroxisome Biogenesis Disorder 8A (Zellweger)
Elevated circulating aspartate aminotransferase concentration, Hepatomegaly, Jaundice OMIM:614876
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Elevated hepatic transaminase, Ascites, Renal insufficiency ORPHA:890
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Microcephaly, Dilation of lateral ventricles, Hypoplasia of the corpus callosum OMIM:618890
Immunodeficiency With Hyper-Igm, Type 5
Lymphadenopathy OMIM:608106
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hemoglobinuria, Hepatomegaly, Jaundice,... OMIM:194380
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Primary microcephaly, Simplified gyral pattern, Lissencephaly, Hypoplasia of the corpus callosum,... ORPHA:284417
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:59303
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly OMIM:608540
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Gray matter heterotopia OMIM:300337
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Elevated hepatic transaminase ORPHA:75563
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Nephrotic syndrome, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, ... OMIM:603909
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Bile Acid Synthesis Defect, Congenital, 2
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Elevated hepatic... OMIM:235555
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Thro... OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Multiple Symmetric Lipomatosis
Hepatomegaly ORPHA:2398
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Nephroblastoma
Lymphadenopathy, Neoplasm of the liver, Hematuria ORPHA:654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Type II lissencephaly, Polymicrogyria, Leukoencephalopathy, Hydrocephalus OMIM:615181
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Hypoplasia of penis, Anemia, Ascites, Hypospadias ORPHA:1046
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Cholestasis, Hepatomegaly, Asplenia, Hepatic fibrosis OMIM:615415
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, Lymphadenopathy... OMIM:150550
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Immunodeficiency 32B
Splenomegaly OMIM:226990
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Ventriculomegaly, Abnormality of neuronal migration ORPHA:2772
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Anemia, Abnormality of the peritoneum, Lymphadenopathy, Ascites, Mediastinal lympha... ORPHA:83469
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Hepatomegaly ORPHA:2432
Microphthalmia-Brain Atrophy Syndrome
Microcephaly, Dilation of lateral ventricles, Diffuse cerebral atrophy, Corpus callosum atrophy ORPHA:77299
Ventriculomegaly With Defects Of The Radius And Kidney
Dilation of lateral ventricles, Ventriculomegaly, Hydrocephalus OMIM:602200
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Immunodeficiency 91 And Hyperinflammation
Nephrotic syndrome, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis, Hepatosplenomegaly,... OMIM:619644
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:97290
Desmosterolosis
Abnormal cortical gyration, Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Lissence... ORPHA:35107
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Hemochromatosis, Type 2A
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:602390
3-Methylglutaconic Aciduria Type 1
3-Methylglutaconic aciduria, Hepatomegaly ORPHA:67046
Osteopetrosis, Autosomal Dominant 3
Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Babesiosis
Hepatic failure, Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insuff... ORPHA:108
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Hepatic failure, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatos... OMIM:278000
Renal-Hepatic-Pancreatic Dysplasia 1
Biliary cirrhosis, Enlarged kidney, Ureteral atresia, Cholestasis, Bile duct proliferation, Pancr... OMIM:208540
Autosomal Dominant Non-Syndromic Intellectual Disability
Cerebral atrophy, Abnormal hippocampus morphology, Leukoencephalopathy, Bilateral generalized pol... ORPHA:178469
Thanatophoric Dysplasia Type 2
Ventriculomegaly, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration, Encephalocele ORPHA:93274
Immunodeficiency, Common Variable, 6
Enlarged kidney, Hydronephrosis, Autoimmune thrombocytopenia, Glomerulonephritis, Macroscopic hem... OMIM:613496
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy ORPHA:319487
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Splenomegaly, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis OMIM:613489
Carnitine Palmitoyltransferase Ii Deficiency
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Pachygyria... ORPHA:157
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenom... ORPHA:100026
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Gray matter heterotopia, Thin corpus callosum OMIM:619694
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly OMIM:605309
Immunodeficiency 55
Neutropenia, Lymphadenopathy OMIM:617827
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Macrophage Activation Syndrome
Elevated circulating alanine aminotransferase concentration, Hemophagocytosis, Elevated circulati... ORPHA:158061
Joubert Syndrome
Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Abnormality of neuronal... ORPHA:475
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepa... ORPHA:131
16P13.11 Microdeletion Syndrome
Agenesis of corpus callosum, Ventriculomegaly, Microcephaly, Holoprosencephaly, Abnormality of ne... ORPHA:261236
Biliary Atresia, Extrahepatic
Bile duct proliferation, Atretic gallbladder, Hepatomegaly, Jaundice, Extrahepatic biliary duct a... OMIM:210500
Rhabdoid Tumor
Hematuria, Neoplasm of the liver, Anemia, Lymphadenopathy, Thrombocytopenia ORPHA:69077
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice, ... OMIM:618641
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hepatic steatosis, Hepatic failure, Portal hypertension, Periportal fi... OMIM:251880
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Proteinuria, Increased hepatic glycogen content, Hepatomegaly, Portal fibrosis, Elevated hepatic ... ORPHA:369
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Jaundice, Acute hepatic failure, Elevated hepatic... OMIM:613070
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Splenomegaly, Hepatomegaly, Anemia, Hepatitis, Abnormal hemogl... ORPHA:848
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:618974
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Hydrocephalus ORPHA:1895
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia OMIM:608184
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Joubert Syndrome With Oculorenal Defect
Aplasia/Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Encephalocele, Hydr... ORPHA:2318
Mulibrey Nanism
Hepatomegaly ORPHA:2576
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ectopic kidney, Cystic renal dysplasia, Hepatomegaly OMIM:613730
Dubin-Johnson Syndrome
Abnormality of the liver, Abnormal urinary color, Hepatomegaly, Jaundice, Biliary tract abnormality ORPHA:234
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Galactose Mutarotase Deficiency
Decreased liver function, Hepatomegaly, Cholestasis ORPHA:570422
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Hematuria, Proteinuria, Splenomegaly, Hepatomegaly, Re... ORPHA:91138
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Agyria, Abnormal caudate nucleus morphology, Cerebral white matter atrophy, Pachygyria, Hypoplasi... ORPHA:2148
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurren... OMIM:618935
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Elevated circulating alanine aminotransferase concentration, P... ORPHA:53035
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Nephrotic syndrome, Hepatosplenomegaly, Lymphadenitis, Autoimmune thrombocytopenia,... ORPHA:911
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Wolman Disease
Hepatic failure, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Bile Acid Conjugation Defect 1
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elevated circulatin... OMIM:619232
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly OMIM:269920
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Nephrotic syndrome, Leukocytosis, Splenomegaly, Hep... ORPHA:39041
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Anemia of inadeq... OMIM:612714
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Thanatophoric Dysplasia, Type I
Neonatal death, Gray matter heterotopia, Hydrocephalus OMIM:187600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cerebral calcification, Abnormality of the basal ganglia, Agenesis of corpus callosum, Ventriculo... ORPHA:228308
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatic failure, Cholestasis, Hepatomegaly, Jaundice, Elevated hepatic transaminase OMIM:618528
Polycystic Liver Disease 2 With Or Without Kidney Cysts
Hepatic cysts, Hepatomegaly OMIM:617004
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Mitochondrial Complex I Deficiency, Nuclear Type 11
Macrovesicular hepatic steatosis, Hepatomegaly OMIM:618234
Congenital Disorder Of Glycosylation, Type Ib
Hepatic failure, Lymphangiectasis, Hepatomegaly, Cirrhosis, Hepatic fibrosis OMIM:602579
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Sialidosis Type 2
Splenomegaly, Hepatomegaly, Nephropathy, Ascites ORPHA:87876
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Normal pressure hydrocephalus, Hypoplasia of the corpus callosum, Abnormality of the basal gangli... ORPHA:300570
D-2-Hydroxyglutaric Aciduria 1
Dilation of lateral ventricles, Multifocal cerebral white matter abnormalities, Subependymal cysts OMIM:600721
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Hepatic steatosis, Hepatic failure, Hepatomegaly OMIM:617872
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Absence of lymph node germinal center, Absent tonsils, B lymphocytopenia, Lymp... ORPHA:277
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal insufficiency, Thrombocytopenia ORPHA:79312
Galloway-Mowat Syndrome
Microcephaly, Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration ORPHA:2065
Glutamine Deficiency, Congenital
Neonatal death, Dilation of lateral ventricles, Subependymal cysts, Hypoplasia of the corpus call... OMIM:610015
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Niemann-Pick Disease, Type A
Microcytic anemia, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:257200
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia OMIM:300049
Hepatitis, Fulminant Viral, Susceptibility To
Hepatic failure, Hepatomegaly, Jaundice, Elevated hepatic transaminase, Fulminant hepatitis OMIM:618549
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia OMIM:614859
Pseudo-Torch Syndrome 2
Cerebral calcification, Gray matter heterotopia, Ventriculomegaly, Microcephaly, Polymicrogyria, ... OMIM:617397
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Hematuria, Splenomegaly, Hepa... OMIM:603903
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Elevated circulat... OMIM:619048
Halperin-Birk Syndrome
Semilobar holoprosencephaly, Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly, Death i... OMIM:618651
Alkuraya-Kucinskas Syndrome
Aplasia/Hypoplasia of the corpus callosum, Gray matter heterotopia, Ventriculomegaly, Lissencepha... OMIM:617822
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia, Lymphadenopathy OMIM:618048
Leber Congenital Amaurosis
Abnormality of neuronal migration, Encephalocele ORPHA:65
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Bilateral Generalized Polymicrogyria
Abnormal hippocampus morphology, Hypoplastic hippocampus, Microcephaly, Hypoplasia of the corpus ... ORPHA:208447
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Lissencephaly, Macrogyria, Exencephaly, Pachygyria, Polymicrogyria, A... ORPHA:2211
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatic failure, Cholestasis, Chronic kidney disease, Hepatomegaly, Splenomegaly, Nephronophthisi... OMIM:615630
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Proximal t... ORPHA:231222
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Diffuse Cutaneous Mastocytosis
Abnormality of the liver, Myeloproliferative disorder, Hepatomegaly, Abnormality of the spleen, L... ORPHA:79456
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Aggressive Systemic Mastocytosis
Pancytopenia, Abnormal mast cell morphology, Portal hypertension, Hepatosplenomegaly, Leukemia, L... ORPHA:98850
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Nephrotic syndrome, Hepatosplenomegaly, Proteinuria, Decreased gl... ORPHA:85450
Neurocutaneous Melanocytosis
Ventriculomegaly, Dandy-Walker malformation, Death in infancy, Meningocele, Abnormality of neuron... ORPHA:2481
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Vacuolated lymphocytes, Proteinuria, Splenomega... OMIM:256550
Vici Syndrome
Agenesis of corpus callosum, Death in infancy, Cerebral cortical atrophy, Gray matter heterotopia ORPHA:1493
Cach Syndrome
Cerebral atrophy, T2 hypointense thalamus, Dysgyria, Microcephaly, Dilation of lateral ventricles ORPHA:135
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatic failure, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Sple... ORPHA:158057
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Ventriculomegaly, Microcephaly, Lissencephaly... ORPHA:2671
Thanatophoric Dysplasia
Ventriculomegaly, Gray matter heterotopia, Hydrocephalus ORPHA:2655
Meckel Syndrome, Type 3
Bile duct proliferation, Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ... OMIM:607361
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Roifman Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:616651
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migration ORPHA:2518
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy, Neoplasm of the liver ORPHA:424019
Coach Syndrome 1
Unilateral renal agenesis, Renal cyst, Stage 5 chronic kidney disease, Portal hypertension, Multi... OMIM:216360
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Urinary retention, Porta... ORPHA:79124
Pontocerebellar Hypoplasia, Type 13
Hypoplastic hippocampus, Microcephaly, Dandy-Walker malformation, Hypoplasia of the corpus callos... OMIM:618606
Peroxisome Biogenesis Disorder 13A (Zellweger)
Jaundice, Hepatomegaly, Cholestasis OMIM:614887
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Cntnap2-Related Developmental And Epileptic Encephalopathy
Periventricular leukomalacia, Abnormal neuron morphology, Abnormality of neuronal migration ORPHA:163681
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Lymphadenopathy, Elevated hepatic transaminase, Renal insuf... ORPHA:83313
Propionic Acidemia
Organic aciduria, Hepatomegaly ORPHA:35
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Cerebral atrophy, Dilation of lateral ventricles, Dilate... OMIM:617296
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Decreased liver function, Neutropenia, An... ORPHA:540
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Abnormal urinary color, Splenomegaly ORPHA:90037
16P13.2 Microdeletion Syndrome
Hydrocephalus, Dilated third ventricle, Cerebral white matter atrophy, Ventriculomegaly, Microcep... ORPHA:500055
Weiss-Kruszka Syndrome
Ventriculomegaly, Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum OMIM:618619
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Hepatomegaly, Renal insufficiency ORPHA:28
Mevalonic Aciduria
Splenomegaly ORPHA:29
Kaposi Sarcoma
Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen ORPHA:33276
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3386
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Hepatic failure, Portal hypertension, Splenomegaly, Hepatomega... ORPHA:567983
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Castleman Disease
Hematuria, Abdominal mass, Generalized lymphadenopathy, Jaundice, Anemia, Follicular hyperplasia,... ORPHA:160
Bile Acid Synthesis Defect, Congenital, 4
Hepatic failure, Hepatomegaly, Intrahepatic cholestasis, Giant cell hepatitis, Prolonged neonatal... OMIM:214950
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Hemoglobinuria, Splenomegaly, Pro... OMIM:300908
Familial Partial Lipodystrophy, Köbberling Type
Hepatic steatosis, Hepatomegaly, Pancreatitis ORPHA:79084
Fetal Gaucher Disease
Pancytopenia, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Familial Pancreatic Carcinoma
Exocrine pancreatic insufficiency, Hepatosplenomegaly, Neoplasm of the liver, Jaundice, Extrahepa... ORPHA:1333