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Gene: Cobll1 MGI:2442894

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Gene Summary

Name:
Cobl-like 1
Synonyms:
D430044D16Rik,  Coblr1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal ovary morphology Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lymph node morphology Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged lymph nodes Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal uterus morphology Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Cobll1em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal tooth color Cobll1em1(IMPC)Ccpcz HOM Early 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 Skull Lateral Orientation

14 Images

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X-ray

XRay Images Forepaw

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

28 Images

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X-ray

XRay Images Hind Leg and Hip

28 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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Human diseases caused by Cobll1 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 Cobll1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306

The table below shows human diseases predicted to be associated to Cobll1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the ovary, Abnormal lymph ... ORPHA:543
Amelogenesis Imperfecta, Type If
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta OMIM:616270
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:615887
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Oral ulcer, Lymphadenopathy OMIM:618852
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Oral ulcer, Lymphadenopathy, T lymphocytopenia OMIM:608971
Kerion Celsi
Lymphadenopathy ORPHA:499
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Amelocerebrohypohidrotic Syndrome
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... ORPHA:1946
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly OMIM:616622
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth OMIM:125490
Jalili Syndrome
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta ORPHA:1873
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel... ORPHA:69087
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Peritonitis, Gonadal calcif... ORPHA:314473
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100024
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Abnormal oral cavity morphology, Lymphadenopathy ORPHA:42642
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Usher Syndrome Type 2
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:231178
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Recurrent sinusitis,... OMIM:613101
Localized Junctional Epidermolysis Bullosa
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia ORPHA:251393
Jalili Syndrome
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis OMIM:217080
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno... ORPHA:2975
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Micrognathia, Splenomegaly, Thin vermilion border, Hypogonadism OMIM:608540
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Craniofacial hyperostosis, Anemia ORPHA:1802
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Micrognathia, Splenomegaly, Thin vermilion border, Narrow mouth... ORPHA:1046
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Gonadoblastoma
Gonadal calcification, Dysgerminoma, Gonadal dysgenesis with female appearance, male, Ambiguous g... ORPHA:206484
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... ORPHA:2228
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Isolated Anencephaly
Cleft lip, Thymus hyperplasia ORPHA:563609
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Abnormality of the ovary, Decreased testicular size ORPHA:1875
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Hyperparathyroidism, Splenomegaly, Gingivitis, Premature loss of teeth, Anemia OMIM:618107
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Recurrent sinusitis, Absent circulating ... OMIM:620282
Alopecia Antibody Deficiency
Abnormality of dental color ORPHA:1006
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Recurrent aphthous stomatitis, Lymphadenopathy OMIM:611762
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Jaundice, Cho... ORPHA:59303
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Hepatic Adenomas, Familial
Hepatocellular adenoma, Polycystic ovaries OMIM:142330
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Recurrent ... OMIM:150550
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Recurrent sinusitis OMIM:240500
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... ORPHA:2980
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta OMIM:617297
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy ORPHA:158014
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Cyclic Neutropenia
Premature loss of permanent teeth, Lymphopenia, Sinusitis, Cyclic neutropenia, Cervical lymphaden... ORPHA:2686
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatospl... OMIM:615122
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Erythrodontia, Splenomegaly, Jaundice, Cholelithiasis, Thrombocyt... OMIM:263700
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center OMIM:608184
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy... OMIM:607594
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Abnormal oral mucosa morphology, Sple... ORPHA:507
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Chronic si... ORPHA:397596
Immunodeficiency 10
Amelogenesis imperfecta, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopen... ORPHA:277
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... ORPHA:1031
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Carious teeth, Widely spaced teeth, Yellow-brown discoloration of the ... OMIM:619229
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Usher Syndrome
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology ORPHA:886
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Proteus-Like Syndrome
Mandibular prognathia, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the parathyroi... ORPHA:2969
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Ascites, Anemia ORPHA:858
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Intellectual Developmental Disorder, Autosomal Recessive 41
Mandibular prognathia, Hepatomegaly, Splenomegaly, High palate, Retrognathia OMIM:615637
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Lymphangioma, Mandibular hyperostosis, Open mouth OMIM:176920
Schimmelpenning-Feuerstein-Mims Syndrome
Precocious puberty, Abnormality of dental color OMIM:163200
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Cirrhosis OMIM:602390
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Progressive Familial Intrahepatic Cholestasis
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly ORPHA:172
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia OMIM:607616
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Recu... OMIM:301078
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Exocrine pa... OMIM:612714
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... ORPHA:314478
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Hypoplasia of penis, Male pseudohermaphroditism, Ago... ORPHA:983
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcification of dental enamel... ORPHA:169090
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Mucopolysaccharidosis, Type Iva
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth OMIM:253000
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hepatomegaly OMIM:121300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Open bite, Splenomegaly, Dental m... ORPHA:61
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Mucopolysaccharidosis, Type Ivb
Mandibular prognathia, Hepatomegaly, Grayish enamel, Carious teeth, Wide mouth, Widely spaced teeth OMIM:253010
Roifman Syndrome
Thin upper lip vermilion, Hypogonadotropic hypogonadism, Eosinophilia, Lymphadenopathy, Downturne... ORPHA:353298
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Hypoplasia of the uterus, Bone marrow hypocellularity... OMIM:619151
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Oral ul... OMIM:618935
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Microcytic anemia, Deep philtrum, Lymphadenopathy, Hepatosplenomegaly, Hig... OMIM:619750
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Tularemia
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... ORPHA:3392
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616719
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Roifman Syndrome
Thin upper lip vermilion, Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy, Downturned c... OMIM:616651
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Aredyld Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hepatomegaly, Abnormal dental enamel morphology... ORPHA:1133
Hepatoerythropoietic Porphyria
Erythroid hyperplasia, Splenomegaly, Erythrodontia, Hemolytic anemia ORPHA:95159
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Abnormality of the dentition, Carious teeth, Grayish enamel, W... ORPHA:582
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi... ORPHA:3473
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Erythrodontia, Anisocytosis, Splenomegaly, Leukopenia, Poikilo... ORPHA:79277
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Melkersson-Rosenthal Syndrome
Macroglossia, Furrowed tongue, Cheilitis, Lymphadenopathy ORPHA:2483
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Splenomegaly, Deep philtrum, Micronodular cirrh... OMIM:606003
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pure red cell aplasia, Autoimmune thrombocytopenia, Splen... OMIM:613179
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Micrognathia, Cryptorchidism, Leukocytosis, Lymp... ORPHA:99812
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Joubert Syndrome 33
Splenomegaly OMIM:617767
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Thick vermi... OMIM:616354
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Oral ulc... ORPHA:169154
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Agammaglobulinemia 8B, Autosomal Recessive
Everted upper lip vermilion, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, al... OMIM:619824
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Gonadal dysgenesis, Ele... OMIM:612964
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Thin upper lip vermilion, Hepatomegaly, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ... ORPHA:1655
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Splenomegaly, Cleft palate, Leukopenia, Lymphopenia OMIM:620210
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxi... OMIM:226990
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Müllerian Aplasia And Hyperandrogenism
Cleft palate, Hypoplasia of the uterus, Short philtrum, Abnormal vagina morphology, Abnormality o... ORPHA:247768
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
Partial Androgen Insensitivity Syndrome
Fused labia majora, Bifid scrotum, Clitoral hypertrophy, Hypospadias, Elevated circulating lutein... ORPHA:90797
Complete Androgen Insensitivity Syndrome
Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating luteinizing hormone... ORPHA:99429
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, High palate, Thrombocytopenia ORPHA:85212
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, O... OMIM:607626
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... ORPHA:666
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Immunodeficiency, Common Variable, 7
Splenomegaly OMIM:614699
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Felty Syndrome
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellula... ORPHA:47612
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus, Micrognathia OMIM:266810
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism OMIM:300510
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cirrhosis, ... OMIM:235200
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth, Hepatic steatosis, Pa... ORPHA:2348
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Hydatidiform Mole
Enlarged uterus, Anemia ORPHA:99927
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Satoyoshi Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Hypoplasia of the ovary, Abnormality of the ... ORPHA:3130
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Absent peripheral lymph nodes in presence of infection, Conical tooth, Increased T cell count, Re... ORPHA:98813
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Micrognathia, Cleft upper lip, Cleft palate, Hypoplasia of the uterus, Azoospermia, Bicornuate ut... OMIM:601076
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thin upper lip vermilion, Hepatomegaly, Micrognathia, Thyroid lymphangiectasia, Splenomegaly, Pan... OMIM:235255
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... ORPHA:1916
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... ORPHA:85450
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Lethal Omphalocele-Cleft Palate Syndrome
Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula ORPHA:2736
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Sinusitis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, Anemia OMIM:617591
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Micrognathia OMIM:619036
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... OMIM:614841
Papa Syndrome
Lymphadenopathy ORPHA:69126
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Splenomegaly, Hydrocele testis, High palate, Long philtrum, Lymph... OMIM:605309
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Hepatomegaly ORPHA:2414
Scheie Syndrome
Hepatomegaly, Splenomegaly, Wide mouth, Thick vermilion border, Everted lower lip vermilion ORPHA:93474
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lym... ORPHA:379
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Gingival overgrowth, Lymphadenopathy, Leukopenia, G... ORPHA:520
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... OMIM:300755
Hypoplasminogenemia
Cervicitis, Gingival overgrowth, Gingivitis, Periodontitis, Abnormal fallopian tube morphology, A... ORPHA:722
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... OMIM:602782
Beta-Thalassemia Major
Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp... ORPHA:231214
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Sialuria
Thin upper lip vermilion, Hepatomegaly, Splenomegaly, Macroglossia, High palate, Hypoplastic nipp... OMIM:269921
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Recurrent aphthous stomatitis, Lymphadenopathy ORPHA:343
Familial Tumoral Calcinosis
Hepatomegaly, Abnormality of the dentition, Splenomegaly, Abnormality of the gingiva, Gingivitis,... ORPHA:53715
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Coombs-p... OMIM:304790
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Hypospadias, Precocious puberty in females, Elevated circulating luteinizing hormo... ORPHA:90793
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hennekam Syndrome
Delayed eruption of teeth, Lymphopenia, Abnormal dental morphology, Abnormal oral mucosa morpholo... ORPHA:2136
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Castleman Disease
Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal lymphadenopathy,... ORPHA:160
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... OMIM:616005
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Perrault Syndrome 4
Increased circulating gonadotropin level, Cleft palate, Hypoplasia of the uterus, Hypoplasia of t... OMIM:615300
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Oral ulcer, Lymphadenopathy, Hepatosplen... OMIM:260920
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... OMIM:603553
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Microretrognathia, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis... OMIM:619418
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Graft Versus Host Disease
Trismus, Jaundice, Oral ulcer, Lymphadenopathy, Hepatosplenomegaly, Chronic hepatitis, Hemophagoc... ORPHA:39812
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Carious teeth, Splenomegaly, Thrombocytopenia, Calvarial osteoscleros... OMIM:259700
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogeusia, Hypogonadism, Decreased testicular size OMIM:201100
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Abnormality of the dentition, Non-obstructive... ORPHA:432
Vaginal Atresia
Cervicitis, Vaginal hematocele, Abdominal mass, Pelvic mass, Transverse vaginal septum, Uterus di... ORPHA:65681
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex reversal, Hypoplasia o... OMIM:154230
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count OMIM:618394
8P11.2 Deletion Syndrome
Hemolytic anemia, Hypoplasia of penis, Hypogonadotropic hypogonadism, Micrognathia, Splenomegaly,... ORPHA:251066
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
H Syndrome
Microcytic anemia, Cleft upper lip, Gingival overgrowth, Lymphadenopathy, Hepatosplenomegaly, Azo... ORPHA:168569
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic steatosis OMIM:618641
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Gingival b... ORPHA:77259
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cheilitis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Hypoplasia of... ORPHA:64
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Ascites, Lymphadenopathy ORPHA:36412
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li... OMIM:119500
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Micrognathia ORPHA:3035
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Hermansky-Pudlak Syndrome 2
Thin upper lip vermilion, Hepatomegaly, Absent platelet dense granules, Carious teeth, Splenomega... OMIM:608233
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... OMIM:158330
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Bardet-Biedl Syndrome 1
Decreased testicular size, Dental crowding, High, narrow palate, Biliary tract abnormality, Hepat... OMIM:209900
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Abnormality of the dentition,... ORPHA:1775
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypop... OMIM:618419
Igg4-Related Submandibular Gland Disease
Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E... ORPHA:449432
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sinusitis, Aplasia of the thymus, Atypical or prolonged he... ORPHA:83471
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Gingival bleeding... OMIM:153670
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... ORPHA:809
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Aphthous ulcer, Leukocytosis, Oral... OMIM:615688
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Hepatosple... ORPHA:464329
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Enanthema, Hepatitis, Lymphadenopathy, Lymphocytosis ORPHA:139402
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Gingi... ORPHA:33226
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia, Retrognathia, Smooth philtrum OMIM:617050
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy OMIM:616028
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hypoplasia of t... OMIM:615866
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia ORPHA:139411
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Cleft palate, Parathyroid hypoplasia, Aplas... ORPHA:2237
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Nodular Non-Suppurative Panniculitis
Splenomegaly, Hepatomegaly ORPHA:33577
Pediatric Systemic Lupus Erythematosus
Oral ulcer, Lymphadenopathy, Leukopenia, Ascites, Microangiopathic hemolytic anemia, Lymphopenia,... ORPHA:93552
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Splenomegaly, Erythroid hypoplasia, Thrombocytopenia... OMIM:612541
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Microphthalmia, Syndromic 9
Micrognathia, Cryptorchidism, Multilobulated spleen, Hypoplasia of the uterus, Bicornuate uterus,... OMIM:601186
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Limb-Mammary Syndrome
Absent nipple, Cleft hard palate, Cleft lip, Cleft palate, Bilateral breast hypoplasia, Breast ap... ORPHA:69085
Poems Syndrome
Lymphadenopathy, Hypogonadism, Thrombocytosis, Ascites, Polycythemia, Visceromegaly, Increased ci... ORPHA:2905
Fanconi Anemia, Complementation Group L
Micrognathia, Cleft palate, Bone marrow hypocellularity, Aplasia of the uterus, Micropenis, Anemia OMIM:614083
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia, Aplasia of the uterus, Cleft palate, Micrognathia ORPHA:3320
Lumbar Syndrome
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... ORPHA:83628
Meckel Syndrome 14
Microretrognathia, Micrognathia, Hepatic fibrosis, Aplasia of the uterus, Ambiguous genitalia, Re... OMIM:619879
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Thin upper lip vermilion, Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepa... OMIM:610199
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Hydro... OMIM:617088
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An... OMIM:615934
Lipodystrophy, Congenital Generalized, Type 1
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Splenomegaly, Labial hypertrophy, Polycy... OMIM:608594
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Familial Mediterranean Fever
Orchitis, Splenomegaly, Peritonitis, Pancreatitis, Lymphadenopathy, Ascites, Oral leukoplakia ORPHA:342
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Sinusitis, Aplasia of the th... OMIM:102700
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Gingival... ORPHA:729
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Q Fever
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn... ORPHA:781
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia, Bifid uvula, Micrognathia OMIM:616258
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Conical tooth, Splenomegaly, Aplasia of the sweat glands, Hypodontia OMIM:612132
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormality of the temporomandibular joint, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Chromosome 17Q12 Deletion Syndrome
Mandibular prognathia, Micrognathia, Cryptorchidism, Abnormal upper lip morphology, Ovarian cyst,... OMIM:614527
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Long penis, Gingiva... OMIM:135500
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Lymphadenopathy, Hepatosplenom... ORPHA:333
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Lipodystrophy, Congenital Generalized, Type 2
Mandibular prognathia, Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Splenomegaly, L... OMIM:269700
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Abnormal morphology of female internal genitalia, Lymphadeno... ORPHA:538
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Hypospadias, Micrognathia, Bifid uterus, Cleft palate, Adrena... OMIM:236680
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, H... OMIM:620233
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Malakoplakia
Orchitis, Prostate neoplasm, Abnormality of the tongue, Follicular hyperplasia ORPHA:556
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Short lingual frenulum, Supernumerary nipple, Bifid uterus, Abnormal reproductive system morpholo... ORPHA:1521
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Eosinophilia, Retroperitoneal fibrosis, Orchitis, Abnormality of the ante... ORPHA:449563
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Oral ulcer, Neutropeni... OMIM:232220
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Aphthous ulcer, Peritonitis OMIM:249100
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Penoscrotal hypospadias, Unilateral cryptorchidism, Cryptorchidi... OMIM:618280
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Lymphaden... ORPHA:667
Lymphatic Malformation 6
Micrognathia, Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Ascites OMIM:616843
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Breast hypoplasia, Hypopla... ORPHA:785
Pontocerebellar Hypoplasia Type 7
Micrognathia, Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, High palate, Microph... ORPHA:284339
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr... ORPHA:97287
Multiple Myeloma
Splenomegaly, Anemia, Lymphadenopathy ORPHA:29073
Meckel Syndrome, Type 1
Accessory spleen, Thin upper lip vermilion, Natal tooth, External genital hypoplasia, Malformatio... OMIM:249000
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm, Neoplasm of the thymu... ORPHA:744
Coccidioidomycosis
Abnormal sperm morphology, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, ... ORPHA:228123
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Recurrent sinusitis, Neutropenia... OMIM:607944
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Multiple Endocrine Neoplasia Type 2
Cervical neoplasm, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Abnormal tongue morpholo... ORPHA:653
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Micrognathia, Pancreatic cysts, Thrombocytopenia, Leukocytosis, Cleft palate, Hepat... OMIM:274000
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Wolf-Hirschhorn Syndrome
Accessory spleen, Hypospadias, Micrognathia, Cleft upper lip, Cryptorchidism, Precocious puberty,... OMIM:194190
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis, Neutropenia in... ORPHA:37042
Systemic Lupus Erythematosus
Hemolytic anemia, Cheilitis, Oral ulcer, Lymphadenopathy, Abnormal pigmentation of the oral mucos... ORPHA:536
Brucellosis
Hepatomegaly, Liver abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocytopenia, Orchiti... ORPHA:1304
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Micrognathia, Hypersplenism, Splenomegaly, ... ORPHA:731
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon... ORPHA:100079
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Phocomelia, Schinzel Type
Hypoplasia of penis, Micrognathia, Cryptorchidism, High, narrow palate, Cleft palate, Aplasia of ... ORPHA:2879
Satoyoshi Syndrome
Hypoplasia of the uterus OMIM:600705
Okamoto Syndrome
Exaggerated median tongue furrow, Tented upper lip vermilion, Bifid uterus, Open bite, Splenomega... ORPHA:2729
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Oral ulcer, Hepatiti... OMIM:619381
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Oeis Complex
Bifid uterus, Cryptorchidism, Epispadias, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... ORPHA:79078
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Orchitis, Splenomegaly, Leukocytosi... ORPHA:99827
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Thrombocytopenia, Biliary cirrhosis... ORPHA:289390
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly, Cervical lymp... ORPHA:3260
Aspartylglucosaminuria
Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, G... ORPHA:93
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Digeorge Syndrome
Parathyroid agenesis, Micrognathia, Splenomegaly, High, narrow palate, Thrombocytopenia, Cleft pa... OMIM:188400
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Woodhouse-Sakati Syndrome
Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone stimulation ... ORPHA:3464
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Abnormal reproductive system m... ORPHA:797
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Microcytic anemia, Splenomegaly, Thrombocytopenia, Thick lower lip ve... OMIM:256040
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Lip telangiectasia, Cholestasis, Lymphop... OMIM:613471
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level, High palate OMIM:110100
Behçet Disease
Orchitis, Splenomegaly, Oral ulcer, Lymphadenopathy, Recurrent aphthous stomatitis, Pancreatitis ORPHA:117
Igg4-Related Kidney Disease
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... ORPHA:449395
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Hypogonadotropic hypogonadism, Abnormal external genitalia, Precocious pubert... ORPHA:90794
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Hepatomegaly ORPHA:100075
Woodhouse-Sakati Syndrome
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallopian tube, ... OMIM:241080
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Lymphopenia, Autoim... OMIM:619573
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc... OMIM:615846
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Cheilitis, Hepatitis, Cholecystitis, Glossitis ORPHA:2331
Renal Cysts And Diabetes Syndrome
Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, Bicornuate uterus, Epididymal c... OMIM:137920
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Turner Syndrome Due To Structural X Chromosome Anomalies
Micrognathia, Abnormality of the dentition, High, narrow palate, Increased circulating gonadotrop... ORPHA:99413
Turner Syndrome
Micrognathia, Abnormality of the dentition, High, narrow palate, Increased circulating gonadotrop... ORPHA:881
Mosaic Monosomy X
Micrognathia, Abnormality of the dentition, High, narrow palate, Increased circulating gonadotrop... ORPHA:99228
Monosomy X
Micrognathia, Abnormality of the dentition, High, narrow palate, Increased circulating gonadotrop... ORPHA:99226
Coffin-Siris Syndrome 1
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Conical tooth, Cryptorchidism, ... OMIM:135900
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Open mouth, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Riddle Syndrome
Generalized lymphadenopathy, Chronic sinusitis, Recurrent sinusitis ORPHA:420741
Blau Syndrome
Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morphology, Anemia ORPHA:90340
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Thin vermilion border, Periodontitis, Uterine ... OMIM:130050
Chikungunya
Cervical lymphadenopathy, Gingival bleeding, Lymphadenopathy ORPHA:324625
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Johanson-Blizzard Syndrome
Hepatomegaly, Hypospadias, Portal hypertension, Septate vagina, Urethrovaginal fistula, Splenomeg... OMIM:243800
Loeys-Dietz Syndrome
Micrognathia, Orofacial cleft, High palate, Uterine rupture, Malar flattening, Bifid uvula ORPHA:60030
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Cleft palate, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hyp... OMIM:309801
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... ORPHA:99826
Peters-Plus Syndrome
Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Micrognathia, Hypoplasia ... OMIM:261540
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pol... ORPHA:572333
Exstrophy-Epispadias Complex
Bifid scrotum, Bifid uterus, Cryptorchidism, Epispadias, Cystocele, Penoscrotal transposition, Ab... ORPHA:322
Plague
Chapped lip, Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Glossitis ORPHA:707
Vascular Ehlers-Danlos Syndrome
Uterine prolapse, Hypospadias, Premature loss of primary teeth, Abnormality of the dentition, Car... ORPHA:286
Neu-Laxova Syndrome 1
Cleft upper lip, Swollen lip, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Bifid uter... OMIM:256520
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Cryptorchidism, Vesicovaginal fist... OMIM:201750
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Narrow palate, Anteriorly displaced genitalia, High p... OMIM:276820
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level ORPHA:3385
Peters Plus Syndrome
Thin upper lip vermilion, Exaggerated cupid's bow, Hypospadias, Cleft upper lip, Micrognathia, Cr... ORPHA:709
Pallister-Killian Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Sma... OMIM:601803
Norrie Disease
Malar flattening, Thin vermilion border, Uterine rupture, Cryptorchidism ORPHA:649
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Bifid uterus, Cryptorchidism, Rectovaginal fis... OMIM:107480

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Cobll1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Cobll1.

No publications found that use IMPC mice or data for Cobll1.

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

MGI Allele Allele Type Produced
Cobll1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Cobll1em1(IMPC)Ccpcz Exon Deletion Mice

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