Gene Summary

Name:
F-box and WD-40 domain protein 16
Synonyms:
7420402K12Rik

IMPC Data Collections

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
abnormal tooth morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
preweaning lethality, complete penetrance Fbxw16em1(IMPC)Ccpcz HOM   Early adult 0.00
abnormal uterus morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
embryonic lethality prior to organogenesis Fbxw16em1(IMPC)Ccpcz HOM   E9.5 0.00
abnormal spleen morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
abnormal thymus morphology Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
small thymus Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
enlarged spleen Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
enlarged thymus Fbxw16em1(IMPC)Ccpcz HET Early adult 0.00
increased CD8-positive, naive alpha-beta T cell number Fbxw16em1(IMPC)Ccpcz HET Early adult 4.23×10-05

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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

30 Images

X-ray

XRay Images Forepaw

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

15 Images

X-ray

XRay Images Skull Lateral Orientation

15 Images

X-ray

XRay Images Hind Leg and Hip

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

15 Images

Human diseases caused by Fbxw16 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Fbxw16 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Immunodeficiency 104
T lymphocytopenia, Splenomegaly, Hepatomegaly, Oral ulcer, Lymphadenopathy OMIM:608971
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
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia OMIM:269600
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Impa... ORPHA:88661
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Autoinflammation With Episodic Fever And Lymphadenopathy
Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Hepatomegaly, Oral ulcer, Lymphadenopathy OMIM:618852
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency 48
Splenomegaly, Hepatomegaly OMIM:269840
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Erythroleukemia, Familial, Susceptibility To
Leukemia, Acute myeloid leukemia, Splenomegaly, Hepatomegaly, Anemia, Erythroid hyperplasia, Thro... OMIM:133180
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hem... OMIM:615285
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Hemoglobin C-Beta-Thalassemia Syndrome
Microcytic anemia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 15A
Decreased proportion of memory B cells, Cutaneous abscess, Decreased proportion of CD4-positive h... OMIM:618204
Anemia, Hypochromic Microcytic, With Iron Overload 2
Poikilocytosis, Azoospermia, Splenomegaly, Hepatomegaly, Anemia, Decreased mean corpuscular volum... OMIM:615234
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, B lymphocytopenia, Lymphadenopathy, Lymphopenia OMIM:619164
Hyperbilirubinemia, Shunt, Primary
Splenomegaly, Hepatomegaly, Jaundice, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequat... OMIM:237800
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:618495
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:228312
Red Cell Phospholipid Defect With Hemolysis
Reticulocytosis, Intermittent jaundice, Splenomegaly OMIM:179700
Oligodontia
Agenesis of first permanent molar tooth, Agenesis of central incisor, Microdontia, Widely spaced ... ORPHA:99798
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B... OMIM:615513
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly ORPHA:882
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly OMIM:607685
Amelogenesis Imperfecta, Type Ij
Amelogenesis imperfecta, Enamel hypoplasia, Carious teeth, Widely spaced teeth, Increased overbite OMIM:617297
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Anemia, Splenomegaly ORPHA:1802
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia OMIM:618963
Burkitt Lymphoma
Abnormality of the liver, Abnormality of the pancreas, Abnormality of the ovary, Decreased propor... ORPHA:543
Dentin Dysplasia, Type I
Microdontia, Dentinogenesis imperfecta limited to primary teeth, Abnormality of dental morphology... OMIM:125400
Alpha-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Premature ovarian insufficiency ORPHA:100025
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hepatomegaly, Micrognathia, Thin vermilion border, Hypogonadism OMIM:608540
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
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
Isolated Anencephaly
Thymus hyperplasia, Cleft lip ORPHA:563609
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-posit... OMIM:312863
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Portal hypertension, Cholestasis, Oligodontia, Hypodontia, Splenomegaly, Hepatomegaly, Jaundice, ... ORPHA:59303
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy ORPHA:66661
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Hepatomegaly, Anemia, Premature loss of teeth, Gingivitis, Hyperparathyroidism OMIM:618107
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Splenomegaly, Hypoplasia of penis, Micrognathia, Anemia, Ascites, Thin vermilion bo... ORPHA:1046
Immunodeficiency 32B
Sinusitis, Splenomegaly OMIM:226990
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Jaundice, Reticulocytosis, Anemia of inadequate production OMIM:224100
Alpha-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Jaundice, Anemia, Hemolytic anemia, Abnormal hem... ORPHA:846
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Lymphadenopathy ORPHA:100024
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Recurrent aphthous stomatiti... OMIM:150550
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Odontodysplasia, Abnormal dental root morphology, Yellow-brown d... ORPHA:49042
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:610293
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Anemia, Recurrent sinusitis, Lymphadenopathy,... OMIM:613101
Splenoportal Vascular Anomalies
Splenomegaly, Anomalous splenoportal venous system, Ascites, Cirrhosis, Hepatic fibrosis OMIM:271500
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Galactosemia Iii
Splenomegaly, Hepatomegaly, Jaundice OMIM:230350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the thymus, Decreased proportion of CD4-positive helper T cells, Absent tonsils, D... OMIM:611926
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:86893
Hemochromatosis, Type 2B
Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatic fibrosis, Hypogonadism OMIM:613313
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormality of primary teeth, Jaw swelling, Supernumerary tooth, Abno... ORPHA:83451
Immunodeficiency 64
Hepatosplenomegaly, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, Autoimmune hemolytic ane... OMIM:618534
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Microdontia, Taurodontia, Pulp calcification OMIM:313490
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Isolated Splenogonadal Fusion
Abnormality of the epididymis, Unilateral cryptorchidism, Ectopia of the spleen, Abnormal penis m... ORPHA:457083
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Erythroid hyperplasia, Reticulocytosi... OMIM:615631
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Thrombocytopenia, Sea-blue histiocytosis OMIM:607616
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly, Abnormal oral cavity morphology ORPHA:42642
Otodental Dysplasia
Tooth ankylosis, Long philtrum, Delayed eruption of teeth, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:610539
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Premature ovarian insufficiency, Hypergonadotropic... OMIM:300510
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly, Hepatomegaly, Long philtrum OMIM:605309
Immunodeficiency, Common Variable, 1
Splenomegaly, Hepatomegaly, Recurrent sinusitis, Neutropenia in presence of anti-neutropil antibo... OMIM:607594
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells OMIM:615607
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of memory B cells, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmu... OMIM:615559
Anemia, Congenital Dyserythropoietic, Type Ia
Poikilocytosis, Splenomegaly, Anisocytosis, Prolonged neonatal jaundice, Erythroid hyperplasia, R... OMIM:224120
Omenn Syndrome
Eosinophilia, Splenomegaly, Hepatomegaly, Severe B lymphocytopenia, Anemia, Lymphadenopathy, B ly... OMIM:603554
Congenital Bile Acid Synthesis Defect Type 1
Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Anterior open-bite malocclusion, Periapical bone loss, Denti... OMIM:125500
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Hypoplastic anemia, Splenomegaly, Abnormality of ne... ORPHA:2585
Follicular Lymphoma
Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Abnormality of the peritoneum ORPHA:545
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:616719
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Decrea... OMIM:619375
Progressive Familial Intrahepatic Cholestasis
Jaundice, Splenomegaly, Hepatomegaly, Cholestasis ORPHA:172
Spherocytosis, Type 5
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612690
Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:98293
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Carious teeth, Splenomegaly, Hepatomegaly, Jaundice, Anemia, A... OMIM:612714
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Hepatic fibrosis OMIM:619658
46,Xy Sex Reversal 11
Aplasia of the uterus, Elevated circulating luteinizing hormone level, Abnormal internal genitali... OMIM:273250
Proteus Syndrome
Lymphangioma, Open mouth, Splenomegaly, Mandibular hyperostosis, Facial hyperostosis OMIM:176920
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Hepatomegaly, Jaundice, Splenomegaly, Anemia, Elevated hepatic ... OMIM:616860
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Splenomegaly, Anisocytosis, Reduced red cell pyruvate kinase level, Anemia, Prolonged neonatal ja... ORPHA:766
Lymphoproliferative Syndrome 2
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Oral ulcer, Lymph... OMIM:615122
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:615085
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Lymphadenopathy, Splenomegaly OMIM:611762
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:602390
Erythrocytosis, Familial, 8
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:222800
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Abnormal oral mucosa morphology, Spleno... ORPHA:507
Proteus-Like Syndrome
Open bite, Polycystic ovaries, Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperpl... ORPHA:2969
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Aplasia of the uterus, Female hypogonadism, Cryptorchidism, Microp... ORPHA:755
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Splenomegaly, Hepatomegaly, Hepatic fibrosis OMIM:616217
Alpha-Mannosidosis
Open bite, Craniofacial hyperostosis, Widely spaced teeth, Splenomegaly, Hepatomegaly, Macrogloss... ORPHA:61
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Amelogenesis imperfecta, Enamel hypoplasia, Yellow-brown discoloration of the... OMIM:616221
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Thrombocytosis, Splenomegaly, Enlarged mesenteri... OMIM:209950
Cholestasis-Lymphedema Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Cryohydrocytosis
Reticulocytosis, Splenomegaly, Hemolytic anemia, Stomatocytosis OMIM:185020
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Splenomegaly, Acanthocytosis, Hepatomegaly, ... OMIM:616689
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti... OMIM:617241
Hemoglobin E Disease
Splenomegaly, Increased red blood cell count, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Abnormality of the lymph no... OMIM:612840
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Amed Syndrome, Digenic
Hypoplasia of the uterus, Leukopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Anemia... OMIM:619151
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Splenomegaly, Hepatomegaly, Increased proportion of ... ORPHA:98848
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Otodental Syndrome
Abnormality of the maxilla, Long philtrum, Gingival overgrowth, Pulp calcification, Delayed erupt... ORPHA:2791
Bile Acid Synthesis Defect, Congenital, 5
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Coproporphyria, Hereditary
Splenomegaly, Hepatomegaly, Jaundice OMIM:121300
Dysplastic Cortical Hyperostosis
Splenomegaly, Hepatomegaly ORPHA:2204
Aredyld Syndrome
Narrow mouth, Craniofacial hyperostosis, Splenomegaly, Hepatomegaly, Abnormal dental enamel morph... ORPHA:1133
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748
Spherocytosis, Type 4
Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:612653
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:235700
Infantile Sialic Acid Storage Disease
High palate, Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Ascites, Cardiomegaly, Gingival ... OMIM:269920
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypogonadotropic hypogonadism, Splenomegaly, Hepatomegaly, Ane... ORPHA:848
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Hepatitis, Aplastic anemia OMIM:300635
Sea-Blue Histiocytosis
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Gaucher Disease, Type Ii
Trismus, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia OMIM:230900
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Lymphadenopathy, Aplasti... OMIM:308240
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Micropenis, ... OMIM:614837
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Splenomegaly, Anisocytosis, Abnormal mean co... ORPHA:3203
Immunodeficiency, Common Variable, 2
Splenomegaly, Hepatomegaly, Recurrent sinusitis, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185000
Spondylometaphyseal Dysplasia, Axial
Splenomegaly OMIM:602271
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Thrombocytopenia OMIM:610333
Lymphoproliferative Syndrome 1
Pancytopenia, Leukopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Decreased pro... OMIM:613011
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Abnormal palate morphology, Autoimmune hemolytic anemia, Autoimmu... ORPHA:100026
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Hepatosplenomegaly, Carious teeth, Anemia, Mandibular osteomyelitis, Mandibular pro... OMIM:259710
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:182900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Hepatosplenomegaly, Lymphadenitis, Splenomegaly, Recurrent tonsillitis, Absce... OMIM:618935
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver di... OMIM:616828
Sclerosing Cholangitis, Neonatal
Biliary cirrhosis, Sclerosing cholangitis, Portal hypertension, Cholestasis, Splenomegaly, Hepato... OMIM:617394
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:2584
Osteopetrosis, Autosomal Recessive 4
Hepatosplenomegaly, Splenomegaly, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia OMIM:611490
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Splenomegaly, Jaundice OMIM:611804
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Hepatomegaly, Lymphadenopathy, Reduced natural ... OMIM:609981
Spherocytosis, Type 2
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Reticulocytosis OMIM:616649
Amelogenesis Imperfecta, Type Ic
Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Anterior open-bite malocclusion... OMIM:204650
Cholesteryl Ester Storage Disease
Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:75234
Amelogenesis Imperfecta, Type Iiic
Hypocalcification of dental enamel, Amelogenesis imperfecta, Anterior open-bite malocclusion, Yel... OMIM:618386
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:314050
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Abnormal external genitalia, Gingival fibromatosis, Splenomegaly, Hepat... ORPHA:3473
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy OMIM:607271
Cholestasis, Progressive Familial Intrahepatic, 3
Bile duct proliferation, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Portal f... OMIM:602347
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly OMIM:612526
Transaldolase Deficiency
Pancytopenia, Short philtrum, Thin vermilion border, Hepatosplenomegaly, Deep philtrum, Splenomeg... OMIM:606003
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Impaired neutrophil bactericidal activity,... OMIM:613470
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Cryptorchidism, Abnormal morphology of female internal genital... ORPHA:2138
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Hepatomegaly, Neutropenia, An... OMIM:612541
Portal Hypertension, Noncirrhotic, 2
Portal hypertension, Splenomegaly, Hepatomegaly, Nodular regenerative hyperplasia of liver, Ascit... OMIM:619463
Cholestasis-Lymphedema Syndrome
Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Biliary tract abnormality, Acholic sto... ORPHA:1414
Amelogenesis Imperfecta, Type If
Dental enamel pits, Amelogenesis imperfecta, Abnormality of dental color, Enamel hypoplasia OMIM:616270
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Anemia, Carious teeth, Urethral stricture, Enamel hypoplasia OMIM:226670
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Prostat... ORPHA:158057
Harderoporphyria
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia, Reticulocytosis OMIM:618892
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis with female appearance, male, Abnormal vagina morphology, Abnormality of femal... ORPHA:168563
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Griscelli Syndrome Type 2
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Lymphadenopathy ORPHA:79477
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Taurodontia, Yellow-brown discoloration of the teeth, Enamel hypoplasia OMIM:104510
Cold Agglutinin Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly, Hemolytic anemia ORPHA:56425
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Diethylstilbestrol Syndrome
Epididymal cyst, Cryptorchidism, Micropenis, Abnormality of the uterus, Testicular dysgenesis, Ab... ORPHA:1916
Oslam Syndrome
Abnormality of neutrophils, Carious teeth, Increased mean corpuscular volume ORPHA:2760
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615846
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Lymphadenitis, Stomatitis, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Splenomegaly, Hepatomegaly, Hypocalcification of dental enamel, Hemolyti... ORPHA:169090
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormal neutrophil count, Myeloproliferative disorder... ORPHA:3226
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Thrombocytopenia ORPHA:108
Mevalonic Aciduria
Splenomegaly ORPHA:29
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Everted lower lip vermilion, Yellow-brown discoloration of the teeth, ... ORPHA:1028
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Cholecystitis, Splenomegaly, Jaundice, Chronic hemolytic anemia, Reticulocytosis OMIM:266200
Fetal Gaucher Disease
Pancytopenia, High palate, Splenomegaly, Hepatomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Primary Myelofibrosis
Pancytopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Splenomegaly... ORPHA:824
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Abnormal morphology of female internal ... ORPHA:99429
Hurler-Scheie Syndrome
Abnormality of the tonsils, Splenomegaly, Hepatomegaly ORPHA:93476
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis, Micrognathia OMIM:266810
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Hepatosplenomegaly, Cryptorchidism, Micropenis, Alveolar ridge overgrowth, Pancreati... ORPHA:1655
Hepatoportal Sclerosis
Intrahepatic portal vein sclerosis, Leukopenia, Portal hypertension, Periportal fibrosis, Splenom... ORPHA:64743
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, H... OMIM:308230
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Splenomegaly, Hepatomegaly ORPHA:163596
Androgen Insensitivity Syndrome
Cryptorchidism, Abnormal morphology of female internal genitalia, Testicular neoplasm, Aplasia/hy... ORPHA:754
Solute carrier family 4 (anion exchanger), member 1
Splenomegaly, Acanthocytosis, Jaundice, Spherocytosis, Hemolytic anemia, Elliptocytosis, Stomatoc... OMIM:109270
Myelofibrosis
Myeloproliferative disorder, Splenomegaly OMIM:254450
Partial Androgen Insensitivity Syndrome
Aplasia of the uterus, Perineal hypospadias, Azoospermia, Elevated circulating luteinizing hormon... ORPHA:90797
Hydatidiform Mole
Anemia, Enlarged uterus ORPHA:99927
Premature Ovarian Failure 6
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo... OMIM:612310
Dentin Dysplasia, Type Ii
Abnormal dentin morphology, Dentinogenesis imperfecta limited to primary teeth, Pulp calcification OMIM:125420
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Exercise-induced hemolysis, Splenomegaly, Hepatomegaly, Jaundice, Increased mean ... OMIM:194380
Roifman Syndrome
Eosinophilia, Long philtrum, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thin upper lip vermilio... OMIM:616651
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619203
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:79312
Wolman Disease
Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites ORPHA:75233
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Hepatomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Acholic stools, Cirrhosis OMIM:613812
Ovarian Dysgenesis 9
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619665
Glycogen Storage Disease Xii
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Nonspherocytic hemolyti... OMIM:611881
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Hemochromatosis, Type 1
Cardiomegaly, Hypogonadotropic hypogonadism, Azoospermia, Splenomegaly, Hepatomegaly, Testicular ... OMIM:235200
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Anemia, Splenomegaly, Hemophagocytosis OMIM:618398
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Anisocytosis, Splenomegaly, Prolonged neonatal ... OMIM:300908
Classic Hodgkin Lymphoma
Lymphadenopathy, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly ORPHA:391
Beta-Thalassemia Intermedia
Cholelithiasis, Abnormality of the liver, Hepatosplenomegaly, Leukocytosis, Cirrhosis, Splenomega... ORPHA:231222
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Recessive Dystrophic Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Anemia, Vaginal stricture, Urethral stricture ORPHA:79409
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Abnormality of neu... ORPHA:381
Perrault Syndrome 6
Hypoplasia of the uterus, Premature ovarian insufficiency, Streak ovary OMIM:617565
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Hemolytic anemia ORPHA:98375
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Cryptorchidism, Micropenis, Alveolar ridge overgrowth, Pancreatic lymphangiectasis, ... OMIM:235255
Lysosomal Acid Lipase Deficiency
Hepatic steatosis, Leukopenia, Portal hypertension, Periportal fibrosis, Hepatosplenomegaly, Hepa... OMIM:278000
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Splenomegaly, Hemolytic anemia, Stomatocytosis, Increased mean platelet volume OMIM:153670
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Absent external genitalia, Abnormal vas defe... ORPHA:325124
Scheie Syndrome
Thick vermilion border, Everted lower lip vermilion, Splenomegaly, Hepatomegaly, Wide mouth ORPHA:93474
Glycogen Storage Disease Ixc
Bile duct proliferation, Increased hepatic glycogen content, Splenomegaly, Hepatomegaly, Cirrhosis OMIM:613027
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Jaundice, Splenomegaly OMIM:608885
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Splenomegaly, Hepatomegaly OMIM:613489
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Long philtrum, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splen... OMIM:608233
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Bifid uterus, Retrognathia, Cleft palate ORPHA:2736
Neuraminidase Deficiency
Vacuolated lymphocytes, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Ascites, Cardiomegaly OMIM:256550
Dominant Beta-Thalassemia
Hepatosplenomegaly, Cirrhosis, Decreased mean corpuscular hemoglobin concentration, Hepatic fibro... ORPHA:231226
Systemic-Onset Juvenile Idiopathic Arthritis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:85414
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Decreased proportion of memory B cells, Splenomegaly OMIM:618394
Familial Partial Lipodystrophy, Dunnigan Type
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis, Advanced eruptio... ORPHA:2348
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Splenomegaly, Hepatomegaly, Jaundice OMIM:235555
Sialuria
High palate, Long philtrum, Splenomegaly, Hepatomegaly, Hypoplastic nipples, Smooth philtrum, Thi... OMIM:269921
Familial Tumoral Calcinosis
Abnormal palate morphology, Splenomegaly, Hepatomegaly, Abnormality of the gingiva, Gingivitis, A... ORPHA:53715
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158061
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Hepatomegaly, Jaun... OMIM:211600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Azoospermia, Micrognathia, Bicornuate uterus, Hypoplasia of the uterus, Cleft pa... OMIM:601076
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenop... OMIM:616100
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Decreased testicular size, Hypoplasia ... OMIM:614841
Felty Syndrome
Abnormal lymphocyte morphology, Sinusitis, Bone marrow hypocellularity, Splenomegaly, Hepatomegal... ORPHA:47612
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:3162
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Anisopoikilocytosis, Persistence of hemoglob... ORPHA:231214
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Gonadal dysgenesis, male, Gonadoblastoma... OMIM:233420
Chronic Granulomatous Disease
Sinusitis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Liver abscess, Gingivitis, Med... ORPHA:379
Perrault Syndrome 4
Bicornuate uterus, Premature ovarian insufficiency, Increased circulating gonadotropin level, Hyp... OMIM:615300
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Hepatomegaly, Ascites ORPHA:2414
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia, L... ORPHA:39041
Adult-Onset Still Disease
Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generalized lymphadenopathy, Hepatomegal... ORPHA:829
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Sinusitis, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia,... OMIM:102700
Proteasome-Associated Autoinflammatory Syndrome 4
Lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:619183
Congenital Rubella Syndrome
Splenomegaly, Hepatomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Schistocytosis, Reticulocytosis, Macrocytic anemia, Increased mean corpuscular he... ORPHA:3202
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Cryptorchidism, Splenomegaly, Hepatomegaly, Intrahepatic biliary dysgenesis, ... OMIM:614866
Essential Thrombocythemia
Splenomegaly, Acute leukemia, Abnormal platelet morphology ORPHA:3318
Budd-Chiari Syndrome
Portal hypertension, Peritonitis, Cholecystitis, Splenomegaly, Hepatomegaly, Jaundice, Ascites, C... ORPHA:131
Sickle Cell Anemia
Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomegaly, Hepatomegaly, J... OMIM:603903
Bile Acid Synthesis Defect, Congenital, 1
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Acholic sto... OMIM:607765
Hereditary Elliptocytosis
Cholelithiasis, Reticulocytosis, Splenomegaly, Jaundice, Prolonged neonatal jaundice, Hemolytic a... ORPHA:288
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Carious teeth, Splenomegaly, Hepatomegaly, Anemia, Thrombocytopenia, Calvarial oste... OMIM:259700
Chediak-Higashi Syndrome
Leukopenia, Giant neutrophil granules, Hemophagocytosis, Periodontitis, Splenomegaly, Hepatomegal... OMIM:214500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Female external genitalia in individua... ORPHA:90793
Prolidase Deficiency
High palate, Splenomegaly, Hepatomegaly, Micrognathia, Anemia, Prolonged neonatal jaundice, Throm... OMIM:170100
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatic steatosis, Portal hypertension, Periportal fibrosis, Splenomegaly, Depletion of mitochond... OMIM:251880
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Cholestasis, Splenomegaly, Hepatomegaly, Oral cleft, Hepatic fibrosis OMIM:615630
Pseudo-Torch Syndrome 1
High palate, Long philtrum, Splenomegaly, Hepatomegaly, Jaundice, Cleft lip, Microretrognathia, T... OMIM:251290
Gaucher Disease Type 1
Pancytopenia, Leukopenia, Biliary tract obstruction, Gingival bleeding, Splenomegaly, Hepatomegal... ORPHA:77259
Poikiloderma With Neutropenia
Leukopenia, Long philtrum, Carious teeth, Splenomegaly, Micrognathia, Neutropenia, Recurrent sinu... OMIM:604173
Infantile Liver Failure Syndrome 3
Hepatic steatosis, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatomegaly, Jaundice OMIM:618641
Cronkhite-Canada Syndrome
Splenomegaly, Hepatomegaly, Anemia, Furrowed tongue, Hypogeusia ORPHA:2930
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Splenomegaly, Chronic lymphatic leukemia, Jaundice ORPHA:90033
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Hepatitis, Acute hepa... ORPHA:905
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Splenomegaly, Hepatomegaly OMIM:602557
Hermansky-Pudlak Syndrome 10
Splenomegaly, Hepatomegaly, Neutropenia, Smooth philtrum, Retrognathia OMIM:617050
Neonatal Lupus Erythematosus
Pancytopenia, Abnormality of the liver, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Hemolyti... ORPHA:398124
Sitosterolemia 1
Abnormality of the liver, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocytosis... OMIM:210250
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Lymphadenopathy, Lymphopenia OMIM:617591
Niemann-Pick Disease, Type A
Microcytic anemia, Splenomegaly, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundic... OMIM:257200
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Cleft upper lip, Hypoplasia of the vagina, Cryptorchidis... OMIM:119500
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Cholestasis, Enamel hypoplasia, Splenomegaly, Hepatomegaly, Retrognathia, Cirrhosis... OMIM:614576
Gaucher Disease, Type I
Pancytopenia, Splenomegaly, Hepatomegaly, Anemia, Hypersplenism, Thrombocytopenia OMIM:230800
Cinca Syndrome
Leukocytosis, Splenomegaly, Hepatomegaly, Abnormality of neutrophils, Anemia, Lymphadenopathy, Ab... ORPHA:1451
Müllerian Aplasia And Hyperandrogenism
Short philtrum, Abnormality of the ovary, Abnormal vagina morphology, Hypoplasia of the uterus, C... ORPHA:247768
Tangier Disease
Left ventricular hypertrophy, Splenomegaly, Hepatomegaly OMIM:205400
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
8P11.2 Deletion Syndrome
High palate, Hypogonadotropic hypogonadism, Cryptorchidism, Azoospermia, Splenomegaly, Hypoplasia... ORPHA:251066
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Azoospermia, Micropenis, Non-... ORPHA:432
Ovarian Dysgenesis 7
Hypoplasia of the uterus OMIM:618117
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in... OMIM:613179
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Accessory spleen, Hepatopulmonary fusion, Cryptorchidism, Micropenis, Bifi... OMIM:618280
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, Recurrent aphth... ORPHA:3261
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Hepatomegaly, Hypogeusia, Hypogonadism, Decreased testicular size OMIM:201100
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Micrognathia ORPHA:3035
Caroli Disease
Cholelithiasis, Biliary cirrhosis, Portal hypertension, Leukocytosis, Cholestasis, Cholangitis, C... ORPHA:53035
Dyskeratosis Congenita, Autosomal Dominant 1
Oral leukoplakia, Bone marrow hypocellularity, Carious teeth, Thrombocytopenia, Anemia, Aplastic ... OMIM:127550
Mucopolysaccharidosis, Type Iiib
Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:252920
46,Xy Sex Reversal 4
Hypoplastic labia majora, High palate, Long philtrum, Micrognathia, Gonadal dysgenesis, Cleft pal... OMIM:154230
Primary Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Pancreatitis, Cirrhosis ORPHA:90970
Muckle-Wells Syndrome
Abnormal palate morphology, Splenomegaly, Hepatomegaly, Recurrent aphthous stomatitis, Anemia ORPHA:575
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Accessory oral frenulum, Hypodontia, Supernumerary tooth, Vaginal atresia, Splenomegaly, Hepatome... OMIM:617088
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, Jaundice, Hepa... ORPHA:822
X-Linked Lymphoproliferative Disease
Pancytopenia, Histiocytosis, Absent natural killer cells, Increased T cell count, Hepatic necrosi... ORPHA:2442
Gray Platelet Syndrome
Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia OMIM:139090
Gaucher Disease, Perinatal Lethal
Narrow mouth, Hepatosplenomegaly, Open mouth, Everted lower lip vermilion, Splenomegaly, Hepatome... OMIM:608013
Dyskeratosis Congenita
Oral leukoplakia, Bone marrow hypocellularity, Abnormal testis morphology, Abnormal morphology of... ORPHA:1775
Oculoskeletodental Syndrome
Cryptorchidism, Oligodontia, Splenomegaly, Hepatomegaly, Macroglossia OMIM:618440
Vaginal Atresia
Pelvic mass, Vaginal hematocele, Abdominal mass, Uterus didelphys, Vaginal atresia, Transverse va... ORPHA:65681
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:91138
Kagami-Ogata Syndrome
Long philtrum, Splenomegaly, Hepatomegaly, Micrognathia, Hypoplasia of the maxilla, Retrognathia OMIM:608149
Mucopolysaccharidosis, Type Iiic
Everted lower lip vermilion, Splenomegaly, Hepatomegaly OMIM:252930
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Portal hypertension, Pancreatic cysts, Periportal fibrosis, Splenomegaly, Hepato... OMIM:263200
Sarcoidosis, Susceptibility To, 2
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly OMIM:612387
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233710
Hurler-Scheie Syndrome
Splenomegaly, Hepatomegaly, Micrognathia, Thick vermilion border OMIM:607015
Ovarian Dysgenesis 5
Hypoplasia of the uterus OMIM:617690
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Hypoparathyroidism, Cle... ORPHA:2237
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Aplasia of the vagina, Hypoparathyroidism OMIM:146255
Mucopolysaccharidosis Type 6
Sinusitis, Thick lower lip vermilion, Splenomegaly, Macroglossia ORPHA:583
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Portal hypertension, Long philtrum, Cholestasis, Pancreatic cysts, Pancreatic hypoplasia, Splenom... OMIM:610199
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Chronic neutropenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Hennekam Syndrome
Narrow mouth, Short philtrum, Delayed eruption of teeth, Lymphangioma, Abnormal oral mucosa morph... ORPHA:2136
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tube OMIM:158330
Fucosidosis
Vacuolated lymphocytes, Thick lower lip vermilion, Splenomegaly, Hepatomegaly, Macroglossia, Abse... OMIM:230000
Coffin-Siris Syndrome 9
High palate, Short philtrum, Delayed eruption of teeth, Open mouth, Everted lower lip vermilion, ... OMIM:615866
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Mannosidosis, Alpha B, Lysosomal
Vacuolated lymphocytes, Widely spaced teeth, Splenomegaly, Hepatomegaly, Macroglossia, Malar flat... OMIM:248500
Free Sialic Acid Storage Disease
Splenomegaly, Hepatomegaly, Ascites ORPHA:834
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Niemann-Pick Disease, Type C1
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:257220
American Trypanosomiasis
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:3386
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Cryptorchidism, Elevated circulating l... ORPHA:168558
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Abnormal natural killer cell count, N... ORPHA:158048
Pparg-Related Familial Partial Lipodystrophy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Pancreatitis, Cirrhosis ORPHA:79083
Prolidase Deficiency
Carious teeth, Splenomegaly, Hepatomegaly, Micrognathia, Hypoplasia of the zygomatic bone ORPHA:742
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Lymphadenitis, Rectal abscess, Splenomegaly, Hepatomegaly, Granulomatosis, Lymphadenopathy, Liver... OMIM:233690
Niemann-Pick Disease, Type C2
Splenomegaly, Hepatomegaly, Prolonged neonatal jaundice, Bone-marrow foam cells, Sea-blue histioc... OMIM:607625
Coach Syndrome 1
Portal hypertension, Splenomegaly, Hepatomegaly, Intrahepatic bile duct dilatation, Abnormal abdo... OMIM:216360
Zimmermann-Laband Syndrome 1
High palate, Delayed eruption of teeth, Gingival fibromatosis, Thick lower lip vermilion, Splenom... OMIM:135500
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Portal fibrosis, ... ORPHA:370
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia, Cleft palate, Micrognathia ORPHA:3320
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Aplasia of the uterus, Adrenocorticotropic hormone excess, Cryptorchidism, Elevated circulating l... ORPHA:289548
Mucopolysaccharidosis, Type Ii
Hepatosplenomegaly, Delayed eruption of teeth, Widely spaced teeth, Splenomegaly, Hepatomegaly, T... OMIM:309900
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly OMIM:252900
Kaposiform Lymphangiomatosis
Enlarged kidney, Hepatosplenomegaly, Lymphangioma, Pancreatic cysts, Splenomegaly, Abnormal splee... ORPHA:464329
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Splenomegaly, Hepatomegaly, Stomatitis, Abscess OMIM:612852
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Histiocytosis, Azoospermia, Micropenis, Pancreatic hypoplasia, Splenomegaly, ... OMIM:602782
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypoplasia of the ... ORPHA:3130
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right ventricular hypertrophy OMIM:616028
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Leukocytosis, Splenomegaly, Hepatomegaly, Micrognathia, Anemia, Hypochromic microcy... OMIM:259720
Hyper-Igd Syndrome
Hepatosplenomegaly, Leukocytosis, Lymphadenitis, Neutrophilia, Splenomegaly, Oral ulcer, Lymphade... OMIM:260920
Microphthalmia, Syndromic 9
Hypoplastic spleen, Cryptorchidism, Bicornuate uterus, Micrognathia, Multilobulated spleen, Hypop... OMIM:601186
Legionnaires Disease
Bone marrow hypocellularity, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Pancreatitis, Ly... ORPHA:549
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly OMIM:617388
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Cho... ORPHA:540
Kennerknecht Syndrome
High palate, Hypodontia, Hypoplasia of the uterus, Agonadism OMIM:600908
Autoimmune Hepatitis
Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Ascites, Splenomegaly, Jaundice, Fulminant he... ORPHA:2137
Hemophagocytic Lymphohistiocytosis, Familial, 2
Pancytopenia, Leukopenia, Hepatosplenomegaly, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaund... OMIM:603553
Hyperlipoproteinemia, Type I
Pancreatitis, Hepatosplenomegaly, Jaundice, Splenomegaly OMIM:238600
Gm1-Gangliosidosis, Type I
Gingival overgrowth, Splenomegaly, Hepatomegaly, Vacuolated lymphocytes OMIM:230500
Symptomatic Form Of Hemochromatosis Type 1
Cardiomegaly, Hypogonadotropic hypogonadism, Portal hypertension, Cholangiocarcinoma, Splenomegal... ORPHA:465508
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614129
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Splenomegaly, Hepatomegaly, Jaundice, Micrognathia, Retrognathia, Smooth philtrum, ... OMIM:608779
Limb-Mammary Syndrome
Submucous cleft soft palate, Aplasia of the uterus, Bifid uvula, Absent nipple, Cleft hard palate... ORPHA:69085
Hemophagocytic Lymphohistiocytosis, Familial, 1
Leukopenia, Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Anemia, Lymphadenopathy, Thro... OMIM:267700
Juvenile Idiopathic Arthritis
Mediastinal lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:92
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Leukopenia, Portal hypertension, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, ... OMIM:615688
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Aplasia of the uterus, Hepatosplenomegaly, Leukocytosis, Pancreatic cysts, Microgna... OMIM:274000
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Ambiguous genitalia, female, Long penis, Precocious puberty in males, C... OMIM:202010
Dyskeratosis Congenita, Autosomal Recessive 1
Oral leukoplakia, Bone marrow hypocellularity, Microdontia, Carious teeth, Aplastic anemia, Hepat... OMIM:224230
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic steatosis, Cholestasis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Anemia, Portal fi... ORPHA:264580
Polycythemia Vera
Portal hypertension, Gingival bleeding, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:729
Majeed Syndrome
Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Hepatomegaly, Hypochromic microcytic a... ORPHA:77297
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Exocrine pancreatic insufficiency, Microvesicular hepatic steatosis, Hepatic steatosis, High pala... OMIM:619418
Glycogen Storage Disease Ii
Cardiomegaly, Splenomegaly, Hepatomegaly, Macroglossia OMIM:232300
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, High palate, Cryptorchidism, Ovarian cyst, Micrognathia, Aplasia of the va... OMIM:614527
Mixed Connective Tissue Disease
Leukopenia, Splenomegaly, Hepatomegaly, Hemolytic anemia, Lymphadenopathy, Mediastinal lymphadeno... ORPHA:809
Multiple Sulfatase Deficiency
Splenomegaly, Hepatomegaly, Smooth philtrum ORPHA:585
Selective Igm Deficiency
Decreased proportion of CD8-positive T cells, Lymphadenitis, Decreased proportion of CD3-positive... ORPHA:331235
Meckel Syndrome, Type 1
Cleft upper lip, Accessory spleen, Bile duct proliferation, Cryptorchidism, Lobulated tongue, Spl... OMIM:249000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Polycystic ovaries, Splenomegaly, Hepatomegaly, Anemia, Cirrhosis, Hepatocellular carcinoma, Hepa... ORPHA:79240
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hepatic steatosis, Portal hypertension, Splenomegaly, Hepatomegaly, Jaundice, Bil... ORPHA:567983
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Schistocytosis, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia OMIM:616084
Gaucher Disease, Type Iiic
Pancytopenia, Cardiomegaly, Splenomegaly, Hepatomegaly OMIM:231005
Familial Mediterranean Fever
Leukocytosis, Orchitis, Peritonitis, Neutrophilia, Splenomegaly, Hepatomegaly, Aphthous ulcer OMIM:249100
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Pancreatitis OMIM:615947
Common Variable Immunodeficiency
Abnormality of the liver, Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphadeno... ORPHA:1572
Granulomatous Disease, Chronic, X-Linked
Lymphadenitis, Rectal abscess, Ascites, Splenomegaly, Hepatomegaly, Granuloma, Granulomatosis, Ly... OMIM:306400
Isolated Biliary Atresia
Periportal fibrosis, Cholestasis, Bile duct proliferation, Hypopituitarism, Atretic gallbladder, ... ORPHA:30391
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
High palate, Supernumerary nipple, Bifid uterus, Short lingual frenulum, Abnormal reproductive sy... ORPHA:1521
Lipodystrophy, Congenital Generalized, Type 1
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Labial hyp... OMIM:608594
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Micrognathia, Pancreatitis, Ad... ORPHA:280365
Mastocytosis
Chronic leukemia, Mastocytosis, Splenomegaly, Hepatomegaly, Acute leukemia ORPHA:98292
Triosephosphate Isomerase Deficiency
Cholelithiasis, Normocytic anemia, Cholecystitis, Splenomegaly, Jaundice, Prolonged neonatal jaun... OMIM:615512
Porphyria, Congenital Erythropoietic
Cholelithiasis, Erythrodontia, Splenomegaly, Hemolytic anemia, Abnormality of the mouth, Thromboc... OMIM:263700
Chédiak-Higashi Syndrome
Pancytopenia, Hepatosplenomegaly, Vacuolated lymphocytes, Hemophagocytosis, Periodontitis, Gingiv... ORPHA:167
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Hypoplasia of the fallopian tube, Elevated circulating... OMIM:241080
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Polycystic ovaries, Cryptorchidism, Elevated circulating luteinizing ho... ORPHA:90796
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatic steatosis, Leukopenia, Normocytic anemia, Cholestasis,... OMIM:300972
Hydrolethalus Syndrome 1
Accessory spleen, Adrenal gland dysgenesis, Abnormal vagina morphology, Micrognathia, Bifid uteru... OMIM:236680
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, High palate, Cryptorchidism, Micropenis, Thick upper lip vermilion, Absent... ORPHA:284339
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Hypoplasia of the uterus, ... ORPHA:785
Lipodystrophy, Congenital Generalized, Type 2
Acute pancreatitis, Hepatic steatosis, Polycystic ovaries, Splenomegaly, Hepatomegaly, Labial hyp... OMIM:269700
Familial Thrombocytosis
Thrombocytosis, Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly OMIM:612918
Bosma Arhinia Microphthalmia Syndrome
Hypoplastic labia majora, Hypogonadotropic hypogonadism, High palate, Paranasal sinus hypoplasia,... OMIM:603457
Waldenström Macroglobulinemia
Leukemia, Normocytic anemia, Gingival bleeding, Splenomegaly, Hepatomegaly, Abnormality of neutro... ORPHA:33226
Hereditary Orotic Aciduria
Anemia, Splenomegaly ORPHA:30
Hyperparathyroidism, Neonatal Severe
Anemia, Primary hyperparathyroidism, Splenomegaly, Hepatomegaly OMIM:239200
Estrogen Resistance
Hypoplasia of the uterus OMIM:615363
Cranioectodermal Dysplasia 2
High palate, Biliary cirrhosis, Cholestasis, Cholangitis, Bile duct proliferation, Everted lower ... OMIM:613610
Proteus Syndrome
Lymphangioma, Testicular neoplasm, Carious teeth, Splenomegaly, Long penis, Ovarian neoplasm, Thy... ORPHA:744
Phocomelia, Schinzel Type
Aplasia of the uterus, Cryptorchidism, Hypoplasia of penis, Micrognathia, High, narrow palate, Cl... ORPHA:2879
Lymphatic Malformation 6
Intestinal lymphangiectasia, Splenomegaly, Micrognathia, Ascites, Hydrocele testis OMIM:616843
Short-Rib Thoracic Dysplasia 12
Periportal fibrosis, Lobulated tongue, Splenomegaly, Hepatomegaly, Hamartoma of tongue, Natal too... OMIM:269860
Autosomal Recessive Polycystic Kidney Disease
Hepatoblastoma, Enlarged kidney, Portal hypertension, Hepatosplenomegaly, Cholestasis, Cholangiti... ORPHA:731
Kikuchi-Fujimoto Disease
Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, Generalized lymphadenopathy, Ne... ORPHA:50918
Reynolds Syndrome
Biliary cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Lip telangiectasia OMIM:613471
Cockayne Syndrome A
Enamel hypoplasia, Cryptorchidism, Micropenis, Carious teeth, Splenomegaly, Hepatomegaly, Hypopla... OMIM:216400
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus OMIM:277000
Syndromic Diarrhea