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Gene: Zfand2b MGI:1916068

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
zinc finger, AN1 type domain 2B
Synonyms:
1110060O18Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Zfand2b 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 Zfand2b by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Immunodeficiency 69
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Diarrhea, Leukocytosis,... OMIM:618963
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Refractory anemia with ringed sider... ORPHA:75564
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... ORPHA:86841
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Bone marrow hypercellularity, Granulocytic hyperplasia, Myeloid leukemia, Naus... ORPHA:98849
Immunodeficiency 27A
Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Increased ci... OMIM:209950
Essential Thrombocythemia
Myelofibrosis, Abnormality of thrombocytes, Myelodysplasia, Splenomegaly, Abnormal platelet morph... ORPHA:3318
Polycythemia Vera
Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo... OMIM:263300
Primary Myelofibrosis
Bone marrow hypercellularity, Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia,... ORPHA:824
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Increased bone mineral density, Leukopenia, Hyperostosis crania... OMIM:231095
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, ... ORPHA:71493
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Castleman Disease
Nausea and vomiting, Myelofibrosis, Intestinal obstruction, Generalized lymphadenopathy, Abdomina... ORPHA:160
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Refractory anemia with ringed siderob... OMIM:133180
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Lymphoproliferative disorder, Autoimmune thrombocyt... OMIM:614470
Thrombocythemia 3
Thrombocytosis, Increased micromegakaryocyte count OMIM:614521
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Delayed femoral head ossification, Enlarged tonsils, Multicentric femoral head ossi... ORPHA:168621
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Chronic Myeloid Leukemia
Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di... ORPHA:521
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, B-cell lymphoma, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Chronic lymphatic... OMIM:616005
Thrombocythemia 2
Thrombocytosis, Increased megakaryocyte count OMIM:601977
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Decreased cir... OMIM:619281
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased... OMIM:617780
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia, Recurr... OMIM:615615
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Mantle Cell Lymphoma
B-cell lymphoma, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy, Abnormal bone marrow cell ... ORPHA:52416
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Abnormality of thrombocytes, Splenomegaly, Leukocytos... OMIM:612840
Fanconi Anemia, Complementation Group G
Myelodysplasia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Portal hypertension, Abdominal pain, Leukocytosis, Osteoporosis, Hepatospl... ORPHA:98850
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno... ORPHA:75233
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Myelofibrosis, Increased RBC distribution width, Macrothrombocytopen... OMIM:187900
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia OMIM:188000
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Myelofibrosis, Portal hypertension, Abdominal pain, Po... ORPHA:729
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Test... ORPHA:83469
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis... ORPHA:3260
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thr... ORPHA:231401
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Myelodysplasia, Anemia, Increased ... OMIM:619041
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Wei... ORPHA:100024
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Lymphoma, Polyclonal elevation of IgM... OMIM:153600
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Osteoporosis, Thrombocytopenia OMIM:616937
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute l... ORPHA:3226
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Lymphoproliferative disorder, Decreased CD4:CD8 rat... OMIM:615897
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Refractory anemia with ringed sideroblasts, Redu... OMIM:619523
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Granulocytic hyperplasia, Myelodysplasia OMIM:162830
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis, Bon... OMIM:616871
Erythrocytosis, Familial, 2
Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Hemangioma, Failure to... OMIM:263400
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure ... OMIM:619151
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Acute Monoblastic/Monocytic Leukemia
Bone marrow hypercellularity, Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphade... ORPHA:514
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Asplenia, ... OMIM:614034
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Chronic diarrhea, Decreased proportion of class-switched... OMIM:619652
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Splenomegaly, Jaundice, Chronic lympha... ORPHA:90033
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Hema... ORPHA:3243
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Abdominal pain, Diarrhea, Decreased circulating antibody le... OMIM:226300
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, Myelodysplasia, B lymphocytopenia, Cervica... OMIM:614172
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inad... ORPHA:231222
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... ORPHA:507
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Hemangioma, Ascites, Polycythemia ORPHA:284227
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Single lineage myelodysplasia... ORPHA:86839
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Leukocytosis, Bone marrow hypocellularity, Multiple linea... ORPHA:98827
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdomi... ORPHA:822
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Reticular Dysgenesis
Abnormality of neutrophils, Diarrhea, Decreased circulating antibody level, Weight loss, Leukopen... ORPHA:33355
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Hematemesis, Thrombocytopeni... ORPHA:906
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Anorexia, Splenomegaly, Lymphoma, Breast carcinoma, Lymphadenopath... ORPHA:86893
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatospl... OMIM:259710
Mitochondrial Neurogastrointestinal Encephalomyopathy
Small intestinal dysmotility, Poor appetite, Abdominal pain, Cachexia, Abdominal distention, Gast... ORPHA:298
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Malignant eosinophil proliferation, Myeloproliferative disorder OMIM:131440
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Cachexia, Congenital hypoplastic anemia, Splenomega... ORPHA:77297
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Leukemia, Decreased CD4:CD8 ratio, Verrucae OMIM:614038
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Elevated circulating C-reactive protein concentration, Increased circulating I... OMIM:615934
Cronkhite-Canada Syndrome
Hepatomegaly, Anorexia, Abdominal pain, Cachexia, Splenomegaly, Diarrhea, Hamartomatous polyposis... ORPHA:2930
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Abdominal pain, Abdominal distention, Diarrhea, Lymphoma, Osteoporosis, Ricket... OMIM:212750
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Pancytopenia, Aplastic anemia, Myelodysplasia, Mediastinal lymphadenopathy, Gastroeso... OMIM:614742
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Myelodysplasia, Thrombocytopenia OMIM:252270
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Osteopenia, Aplastic anemia, Eosinophilia, Myelodysplasia, Abdominal pain... ORPHA:486
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Abdominal pain, Perianal abscess, Diarrhea... OMIM:301074
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Feeding difficulties ... OMIM:257200
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux... OMIM:608971
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Leukemia, Chronic Myeloid
Ph-positive acute lymphoblastic leukemia, Chronic myelogenous leukemia OMIM:608232
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Reduced n... OMIM:616050
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Complete or n... OMIM:615401
Rhabdoid Tumor
Nausea and vomiting, Renal neoplasm, Poor appetite, Abdominal pain, Lymphadenopathy, Anemia, Neop... ORPHA:69077
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Cirrhosis, Myeloid leukemia OMIM:614743
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Brain neoplasm, Elevated carcinoma antigen 125 lev... ORPHA:370348
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Failure to thrive, Abdominal distention, Diarrhea, Thrombocytopenia, Cholestasis, H... OMIM:608104
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss ORPHA:79238
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Anterior Cutaneous Nerve Entrapment Syndrome
Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Decreased body weight, Recurrent in... ORPHA:51890
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Lymphoproliferative disorder, Elevated circulating C-reactive protein... OMIM:615688
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Feeding difficulties, Anemia, Osteopetrosis, Failure to thrive, Throm... OMIM:615085
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Monoclonal elevation of circulating IgA, B-cell lym... ORPHA:91139
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundice, Lymphadenopat... OMIM:603552
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, B-cell lym... OMIM:619924
Cholesteryl Ester Storage Disease
Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Vomiting, Hepatic fibrosis, Hepatic st... OMIM:278000
Sepsis In Premature Infants
Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, A... ORPHA:90051
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis ORPHA:134
Poems Syndrome
Sclerosis of hand bone, Lymphoproliferative disorder, Sclerosis of foot bone, Lymphadenopathy, We... ORPHA:2905
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Increased bone mineral density, Thrombo... OMIM:259720
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Le... ORPHA:2070
Immunodeficiency 16
Splenomegaly, Pancytopenia, Kaposi's sarcoma, Coombs-positive hemolytic anemia OMIM:615593
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Brucellosis
Liver abscess, Anorexia, Elevated circulating C-reactive protein concentration, Increased circula... ORPHA:1304
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis, ... ORPHA:20
Immunodeficiency 76
B-cell lymphoma, Splenomegaly, Chronic diarrhea, Lymphadenopathy, T lymphocytopenia, Colitis, B l... OMIM:619164
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Granulocytic hyperplasi... OMIM:226990
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Lymphoproliferative disorder, B-cell lymphoma, Auto... OMIM:300853
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Hyperprot... ORPHA:90041
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Increased circulating ferritin concentration, Abnormal natural killer cell physiolo... OMIM:613101
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytos... ORPHA:66661
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, T-cell acute lymphoblastic leukemias, Lymphoma OMIM:247640
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Letterer-Siwe Disease
Abdominal distention, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lym... OMIM:613011
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Intraalveolar phospholipid accumulation, Cholestasis, Vomiting, ... OMIM:615486
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive, Jaundice, Ri... ORPHA:79303
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia ORPHA:1802
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of head and neck, Imbalanced hemoglobin synthesi... ORPHA:99867
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Increased mean platelet volume, Feeding difficulties in infancy, A... OMIM:300048
N Syndrome
Leukemia, Neoplasm OMIM:310465
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Immunodeficiency 48
Hepatomegaly, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Failure to thrive, Panhypo... OMIM:269840
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Failure to thrive, T-cell acute lymphoblastic leukemias, Bone marrow hypo... OMIM:605724
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Necrotizing Enterocolitis
Small for gestational age, Abdominal distention, Diarrhea, Leukocytosis, Peritonitis, Bloody diar... ORPHA:391673
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Thrombocytopenia, Splenomegaly, Feed... ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal distention, Hypoch... OMIM:619423
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Feeding difficulties, Thrombocytopenia OMIM:615010
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Lym... ORPHA:169079
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphoma, Lymphadenopat... ORPHA:37748
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Cachexia, Diarrhea, Hematochezia, Hamartomatous polyposis, Vomiting, An... OMIM:175500
Porphyria Due To Ala Dehydratase Deficiency
Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal distention, Diarrhea, Constipation, ... ORPHA:100924
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Poor appetite, Megaloblastic anemia, Anisopoiki... ORPHA:35858
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Abdominal pain, Splenomegaly, Lymphoma, Lymphadenopathy, Asci... ORPHA:100025
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh... ORPHA:324636
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Abdominal pain, Asplenia, Splenomegaly, Splenic infarction, Hypo... ORPHA:251380
Primary Erythromelalgia
Leukemia, Abnormality of thrombocytes ORPHA:90026
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly, Myeloid maturation arrest OMIM:619813
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma, Impair... OMIM:601399
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Abdominal pain, Microcytic anemia, Increased proportion of ... ORPHA:398063
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Abdominal distention, Gastrointestinal d... OMIM:613662
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Cranial hyperostosis, Diaphyseal sclerosis, Hepatosplenomegaly, Ost... OMIM:259730
Classic Hodgkin Lymphoma
Hepatomegaly, Poor appetite, Anorexia, Splenomegaly, Lymphoma, Osteolysis, Lymphadenopathy, Weigh... ORPHA:391
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Syndromic Diarrhea
Lymphopenia, Hepatomegaly, Small for gestational age, Hepatoblastoma, Increased mean platelet vol... ORPHA:84064
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Non-Hodgkin lymphoma, Lymphoproliferative disorder, Impaired T cell function, ... ORPHA:1830
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphoma, Osteolysis, Lymphadenopathy, Anemia, Weight loss, Bone marr... ORPHA:47612
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre... ORPHA:859
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis OMIM:612126
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Myelodysplasia, Erythro... ORPHA:124
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias OMIM:619096
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Hodgkin lymphoma, Absent circulating B c... OMIM:620282
Gray Platelet Syndrome
Splenomegaly, Myelodysplasia, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Abdominal pain, Splenomegaly, Recurrent tonsillitis, Lymphadenop... OMIM:618852
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Eosinophilia, Autoimmune thrombocytope... ORPHA:911
B-Cell Expansion With Nfkb And T-Cell Anergy
Lymphoid hyperplasia, Decreased specific antibody response to polysaccharide vaccine, Splenomegal... OMIM:616452
Neurofibromatosis Type 1
Astrocytoma, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromocytoma, Meningio... ORPHA:636
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... ORPHA:275761
Kasabach-Merritt Syndrome
Reticulocytosis, Abdominal pain, Abdominal distention, Thrombocytopenia, Abnormal lymphatic vesse... ORPHA:2330
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Increased circulating ferritin concentration, Spleno... OMIM:300635
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatomegaly, Failure to thrive, Feeding difficulties in infancy, Diarrhea, Vomiting,... OMIM:212065
Lead Poisoning
Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Increased circulating ... ORPHA:330015
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Single lineage myelodysplasia, Anemia of inadequate product... ORPHA:98826
Acrocephalopolydactyly
Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Secretory diarrhea, Iron deficiency anemia, Colitis, Vomiting, Hypoalbuminemia, Neutropenia, Auto... ORPHA:37042
Trichohepatoenteric Syndrome 1
Hepatomegaly, Failure to thrive, Small for gestational age, Increased mean platelet volume, Splen... OMIM:222470
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Aredyld Syndrome
Craniofacial hyperostosis, Hepatomegaly, Cachexia, Splenomegaly, Refractory anemia with ringed si... ORPHA:1133
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Pancytopenia, Anorexia, Abdominal pain, Thrombocytopenia, Leukocyto... ORPHA:520
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Absence of lymph node germinal center, Diarrhea, Increased circulating IgE lev... ORPHA:277
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Nasu-Hakola Disease
Reduced bone mineral density, Bone cyst, Functional abnormality of the gastrointestinal tract, Ac... ORPHA:2770
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia, B-cell lymphoma OMIM:619437
Shwachman-Diamond Syndrome
Normocytic anemia, Osteopenia, Transient neutropenia, Aplastic anemia, Leukopenia, Neutropenia, P... ORPHA:811
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Anorexia, Abdominal pain, Cachexia, Splenomegaly, Diar... ORPHA:3452
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Small for gestational age, Myelodysplasia, Pe... OMIM:260400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Increased c... OMIM:615513
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 19
Chronic diarrhea, T lymphocytopenia, Abnormal B cell morphology, Failure to thrive, Abnormal natu... OMIM:615617
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Wilson Disease
Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Increased body weight, We... ORPHA:905
Familial Cold Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly, Leukocytosis... OMIM:611762
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Abdominal pain, Disseminated cutaneous warts, Chronic diarrhea,... ORPHA:90362
Chylomicron Retention Disease
Acanthocytosis, Abdominal distention, Diarrhea, Vomiting, Increased hepatocellular lipid droplets... ORPHA:71
Babesiosis
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Jaundice, Leukopenia... ORPHA:108
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Meningioma OMIM:602501
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Splenomegaly, Diarrhea, Lymphadenop... OMIM:618495
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Pediatric Systemic Lupus Erythematosus
Abdominal pain, Abdominal distention, Diarrhea, Lymphadenopathy, Leukopenia, Ascites, Vomiting, M... ORPHA:93552
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphoma, Lymphadenopathy, Acute leukemia, Abnormal bon... ORPHA:99812
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of the tonsils, Chronic diarrhea, Abnormality ... ORPHA:47
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Feeding difficulties, Thrombocytopenia OMIM:610333
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphoma, Lymphadenopa... ORPHA:545
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... ORPHA:67
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Malnutrition, ... OMIM:612714
Indolent Systemic Mastocytosis
Hepatomegaly, Hematological neoplasm, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased prop... ORPHA:98848
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome... ORPHA:846
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Diarrhea, Neutropenia, Lymphadenopathy, B lymphocy... OMIM:150550
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Decreased calvarial ossification, C... ORPHA:313855
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin con... OMIM:618892
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Diarrhea, Hypereosinophilia, Lymphadenop... OMIM:615387
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Diarrhea, Thrombocytopenia, L... OMIM:603554
Lig4 Syndrome
Pancytopenia, Small for gestational age, Myelodysplasia, Acute lymphoblastic leukemia, Failure to... OMIM:606593
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Prolonged ne... OMIM:300908
Gaucher Disease, Type Ii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Feeding difficulties, Gastroesophageal reflux, Prot... OMIM:230900
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Abnormality of thrombocytes, Splenomegaly, Jaundice, Cholestasis, Reduced bone mine... ORPHA:172
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia OMIM:246470
Sandhoff Disease
Splenomegaly, Failure to thrive, Hepatomegaly ORPHA:796
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig... ORPHA:1302
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Hepatic fibrosis, Cirrh... OMIM:613313
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Increased circulating NT-proBNP concentration, Gastrop... ORPHA:85443
Classic Mycosis Fungoides
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Lymphadenopathy, Neoplasm of the... ORPHA:2584
Galactosemia Iii
Hepatomegaly, Splenomegaly, Jaundice, Vomiting, Failure to thrive OMIM:230350
Bone Marrow Failure Syndrome 6
Osteopenia, Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean co... OMIM:618849
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Splenomegaly, Reduced bone mineral density, Decreased circulating tota... OMIM:620210
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Increased bone mineral density, Splenomegaly, Thrombocytopenia, Os... OMIM:611490
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Chronic noninfectious lymphadenopat... ORPHA:79140
Schimke Immunoosseous Dysplasia
Osteopenia, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytope... OMIM:242900
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Lymphoproliferative disorder, Splenomegaly, Lymphoma... OMIM:615122
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Anorexia, Abnormality of neutrophil... ORPHA:33226
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Pancreatic steatosis, T... OMIM:617052
Ataxia-Telangiectasia
Lymphopenia, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Decreased c... OMIM:208900
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Hodgkin lymphoma, Hepatosplenomegaly, Lymphadenopathy, Decreased ci... OMIM:618261
Cogan Syndrome
Thrombocytosis, Leukocytosis, Anemia ORPHA:1467
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Combined Saposin Deficiency
Hepatomegaly, Splenomegaly, Feeding difficulties OMIM:611721
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis, Abdominal pain OMIM:118830
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Diarrhea, Weight loss, Failure to thrive, Anemia ORPHA:1842
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Abdominal distention, Leukocytosis, Chronic diarrhea, Mediastinal lymphadenopathy, ... OMIM:620233
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Increased circulating ferritin concentration, Jaundice,... OMIM:616860
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Adiposis Dolorosa
Abdominal distention, Constipation, Obesity, Painful subcutaneous lipomas OMIM:103200
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Chronic diarrhea, Lymp... ORPHA:39041
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Vomiting, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Adult Idiopathic Neutropenia
Granulocytic hypoplasia, Helicobacter pylori infection, Bone marrow hypercellularity, Abnormal ne... ORPHA:2688
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Thrombocytopenia, Reticulocytopenia, Bone marrow hypocel... OMIM:227645
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Anorexia, Diarrhea, Hepatitis, Protracted diarrhea, Hepatosplenomegaly... ORPHA:169160
Acute Interstitial Pneumonia
Reduced hematocrit, Elevated circulating C-reactive protein concentration, Lymphadenopathy ORPHA:79126
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Aicardi-Goutières Syndrome
Enchondroma, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepa... ORPHA:51
Kaposi Sarcoma
Generalized lymphadenopathy, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by... ORPHA:33276
Infantile Sialic Acid Storage Disease
Osteopenia, Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Subcutaneous lipoma, Cachexia, Abdominal pain, Di... ORPHA:79076
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Elevated circulating C-reactive protein concentration, Poor appetite, Craniofacial osteosclerosis... ORPHA:324964
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Diamond-Blackfan Anemia 1
Macrocytic anemia, Myelodysplasia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence ... OMIM:105650
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Hemophagocytosis, Subcu... OMIM:618398
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic non... OMIM:603909
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Colitis, Lymphopenia, Thrombocytopenia OMIM:616744
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Eleva... ORPHA:1451
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... ORPHA:2902
Macrophage Activation Syndrome
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... ORPHA:158061
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Osteopenia, Hepatomegaly, Failure to thrive, Abdominal distention, Osteoporosis, Portal fibrosis,... ORPHA:369
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Decreased mean corpuscu... OMIM:615234
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Neuroblastoma, Susceptibility To, 1
Abdominal mass, Ganglioneuroblastoma, Abdominal pain, Diarrhea, Weight loss, Neuroblastoma, Failu... OMIM:256700
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM... OMIM:618394
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Non-Hodgkin lymphoma, Increased circulating IgG level, Colitis, Thy... ORPHA:3261
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abdominal pain, Feeding diff... ORPHA:2924
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Weight loss ORPHA:90060
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anemia of inadequate ... OMIM:224120
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexi... ORPHA:647
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Chronic diarrhea, Decreased circulating total IgM, T l... OMIM:619510
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to Haemophilus influenzae type b (Hib... OMIM:301082
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Craniofacial ost... ORPHA:1328
Neuroleptic Malignant Syndrome
Elevated circulating creatine kinase concentration, Leukocytosis, Vomiting, Dysphagia, Thrombocyt... ORPHA:94093
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... ORPHA:848
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphoma, Decreased circulating antibody level... ORPHA:397596
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Pancreatic Triacylglycerol Lipase Deficiency
Osteomalacia, Abdominal pain, Abdominal distention, Diarrhea, Osteoporosis, Rickets, Weight loss,... ORPHA:309031
Noonan Syndrome 12
Feeding difficulties in infancy, Glabellar hemangioma, Lymphopenia, Thrombocytopenia OMIM:618624
Rothmund-Thomson Syndrome
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Myel... ORPHA:2909
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Ost... ORPHA:79301
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Acute leukemia OMIM:185050
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level ORPHA:930
Rothmund-Thomson Syndrome Type 1
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Myel... ORPHA:221008
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Diarrhea, Neutropenia in presence of anti-n... OMIM:607594
Coproporphyria, Hereditary
Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, Constipation, Vomiting OMIM:121300
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Generalized lymp... OMIM:618986
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Portal hypertension, Nodular regenerative hyperplasia of liver, Hype... ORPHA:64743
Griscelli Syndrome Type 2
Nausea and vomiting, Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemopha... ORPHA:79477
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Immunodeficiency 54
Hepatomegaly, Failure to thrive, Lymphoproliferative disorder, Splenomegaly, Lymphadenopathy, Red... OMIM:609981
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Weight loss, Feeding difficulties, Hamartoma, Gastrostomy tu... ORPHA:141152
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Thrombocytopenia, Anorexia, Weight loss ORPHA:79242
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Poor app... ORPHA:100075
Rothmund-Thomson Syndrome Type 2
Osteopenia, Abnormal trabecular bone morphology, Aplastic anemia, Small for gestational age, Myel... ORPHA:221016
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa... ORPHA:3392
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Neoplasm of the larynx, Anorexia, Oral-pharyngeal dysphagi... ORPHA:100083
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepa... OMIM:606003
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Trehalase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal pain ORPHA:103909
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Thrombocytop... ORPHA:91547
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Neonatal hypoproteinemia OMIM:152800
Systemic Capillary Leak Syndrome
Abdominal pain, Leukocytosis, Diarrhea, Weight loss, Multiple myeloma, Pancreatitis ORPHA:188
Tyrosinemia Type 1
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower... ORPHA:882
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat... OMIM:610377
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Splenomegaly, Macrocytic anemia, Failure to thrive OMIM:619046
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia ORPHA:281090
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Vomiting, Hypoalbuminem... OMIM:277900
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Lymphoproliferative disorder, F... ORPHA:276
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Mandibular hyperostosis, Multiple lipomas, Calvarial hyperosto... OMIM:176920
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Decreased mean p... OMIM:617718
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Increased circulating ferritin ... OMIM:603553
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Anorexia, Abdominal pain,... ORPHA:77259
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Impaired T cell function, Pure red cell aplasia, ... OMIM:613179
Takayasu Arteritis
Anemia, Gastrointestinal infarctions, Anorexia, Weight loss ORPHA:3287
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... OMIM:618886
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Esophageal neoplas... ORPHA:2198
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Congenital Pancreatic Cyst
Anorexia, Abdominal pain, Abdominal distention, Jaundice, Vomiting, Pancreatitis ORPHA:313906
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Hypoalbuminemia, Failure t... OMIM:619868
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... OMIM:617099
Igg4-Related Aortitis
Intestinal obstruction, Increased circulating IgG4 level, Elevated circulating C-reactive protein... ORPHA:449400
Malt Lymphoma
Nausea and vomiting, B-cell lymphoma, Abdominal pain, Mediastinal lymphadenopathy, Lymphadenopath... ORPHA:52417
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decreased circulatin... ORPHA:381
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Decreased body weight, Jaundice, Iron deficiency anemia, Abn... ORPHA:1667
Cystic Echinococcosis
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Abscess, Hepatic c... ORPHA:400
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... ORPHA:829
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hepatomegaly, Splenomegaly, Osteolytic defects of the pha... OMIM:228000
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocytopenia, Splenomegaly... OMIM:616100
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Cardiomegaly, Diarrhe... ORPHA:42
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Gastrointestinal hemorrhage, Intestinal obstruction, Decreased circulating apolipoprot... ORPHA:85450
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Jaund... OMIM:267700
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Reduced natural killer cell activity, Increased circulating ferritin concentration,... ORPHA:540
Cold Agglutinin Disease
Nausea and vomiting, Hemolytic anemia, Hepatomegaly, Splenomegaly, Diarrhea, Lymphadenopathy ORPHA:56425
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Absent peripheral lymph nodes in presence of infection, Abnormal i... ORPHA:98813
Osteootohepatoenteric Syndrome
Increased intestinal transit time, Abdominal pain, Microvesicular hepatic steatosis, Secretory di... OMIM:619377
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Hepatosplenomegaly, T lymphocytopenia... OMIM:242700
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation OMIM:616801
Sitosterolemia 1
Reticulocytosis, Abdominal pain, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis,... OMIM:210250
Cyclic Neutropenia
Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervical lymphadenopathy, Peritonitis, Recu... ORPHA:2686
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Myelofibrosis, Large for gestational age, Feeding difficulties, Hemangioma, Failure to thrive OMIM:607721
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Thrombocytopenia, Splenomegaly, Ch... ORPHA:398124
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Thrombocytopenia, Annular pancreas, Reticulocytopenia, B... OMIM:227646
Microsporidiosis
Brain abscess, Cholangitis, Anorexia, Abdominal pain, Cachexia, Abnormality of the spleen, Lympha... ORPHA:2552
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Craniosynostosis, Splenomegaly, Anemi... OMIM:259700
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Portal hypertension, Myelodysplasia, Anemia, Squamous cell carcinoma of the skin, Lym... OMIM:620365
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Chronic neutropenia, Lymp... OMIM:614700
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Abdominal pain, Portal hypertension, Hepatic cysts, Abn... ORPHA:284
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Increased circulating ferritin concentration, Thrombocytopenia, Splen... ORPHA:158048
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Myelodysplasia, Decreased circulating antibody level, Bone marrow hypocellularity, ... OMIM:619767
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea OMIM:616868
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Hepatit... ORPHA:319218
Bloom Syndrome
Poor appetite, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Decreased circulating I... ORPHA:125
Pyoderma Gangrenosum
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level, Myel... ORPHA:48104
Lysinuric Protein Intolerance
Hepatomegaly, Protein avoidance, Increased circulating ferritin concentration, Diarrhea, Malnutri... OMIM:222700
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Functional intestinal obstruction, Intestinal pse... ORPHA:1333
Turcot Syndrome With Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Neoplasm of the central nervous system, Vomiti... ORPHA:99818
Moynahan Syndrome
Cachexia ORPHA:2574
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Abdominal pain, Splenomegaly, L... OMIM:615895
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Lymphopenia, Severe B lymphocytopenia, Aplasia of the thymus, ... OMIM:102700
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abdominal pain, Abnormal erythrocyte morphology, Splenomegaly,... ORPHA:288
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Primary Hepatic Neuroendocrine Carcinoma
Intrahepatic cholestasis with episodic jaundice, Anorexia, Elevated carcinoembryonic antigen leve... ORPHA:100085
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thyroid lymphangiectasia, Splenomegaly, Abdominal distention, Pancreatic lymphangie... OMIM:235255
Lymphatic Malformation 7
Abdominal distention, Ascites, Anemia OMIM:617300
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating ant... OMIM:617591
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Multiple Myeloma
Osteopenia, Increased circulating IgA level, Splenomegaly, Functional abnormality of the gastroin... ORPHA:29073
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Perianal abscess, Diarrhea, Decreased circulating antibody level, T lymphocyto... OMIM:618108
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly ORPHA:2204
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Failure to thrive, Portal hypertension, Osteo... OMIM:619487
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... OMIM:616828
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Lymphoma,... OMIM:240500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Feed... ORPHA:2072
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive protein concentr... OMIM:619381
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Bicoronal synostosis, Leukemia, Myelodysplasia, Feeding difficulties OMIM:619951
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Abdominal pain, Abdominal distention, Incre... ORPHA:90003
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Feeding difficulties OMIM:613224
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Abdominal pain, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic... OMIM:603903
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ... ORPHA:131
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Anemia, Thrombocytopenia ORPHA:290
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Sézary Syndrome
Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal immunoglobulin level, Splenomegaly, Lymphoma, L... ORPHA:3162
Ataxia-Telangiectasia
Lymphopenia, Decreased circulating antibody level, Neoplasm, Failure to thrive, Aplasia/Hypoplasi... ORPHA:100
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Congenital Disorder Of Glycosylation, Type Iij
Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis,... OMIM:613489
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... ORPHA:2968
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Soft tissue sarcoma, Anorexia, Weight loss ORPHA:2023
Mirage Syndrome
Myelodysplasia, Thrombocytopenia, Radial club hand, Chronic diarrhea, Hypoplastic spleen, Leukope... OMIM:617053
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Primary Effusion Lymphoma
Abnormal peritoneum morphology, Abdominal distention, B-cell lymphoma, Abdominal pain ORPHA:48686
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Multiple myeloma, Thrombocytopenia OMIM:230800
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Increased circulating antibody level, Prolonged neonatal jaun... OMIM:170100
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Splenomegaly, Abdominal distention, Pancreatic lymphangiectasis, Pulmonary lymphang... ORPHA:1655
Spondyloepimetaphyseal Dysplasia, Shohat Type
Splenomegaly, Abdominal distention, Delayed epiphyseal ossification, Hepatomegaly OMIM:602557
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss ORPHA:33577
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell f... OMIM:614576
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Eosinophilia, Hepatitis, Lymphadenopathy, Weight loss, Lymphocytosis ORPHA:139402
Mcdonough Syndrome
Cachexia ORPHA:2471
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Polycystic liver disease, Ascites OMIM:174050
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss, Neoplasm, Ascites ORPHA:168811
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Lymphoma, Squamous cell carcinoma, Decreased ... OMIM:210900
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Gastrointestinal str... ORPHA:1572
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abdominal distention, Diarrhea, Weight loss, Hematoch... ORPHA:103910
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Neoplasm, Constipation ORPHA:168816
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... OMIM:256550
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Abdominal pain... ORPHA:199299
Cholestasis-Lymphedema Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pa... ORPHA:1414
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Elevated circulating alpha-fetoprotein concentration, Portal hyp... OMIM:251880
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Neuroendocrine neoplasm, Obesity ORPHA:404443
Small Bowel Atresia
Abdominal distention, Failure to thrive, Vomiting, Feeding difficulties ORPHA:1201
Pneumocystosis
Weight loss, Neoplasm, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Cardiomegaly, M... OMIM:618278
Tarp Syndrome
Failure to thrive, Extramedullary hematopoiesis ORPHA:2886
Gaucher Disease Type 2
Hepatomegaly, Splenomegaly, Dysphagia ORPHA:77260
Somatostatinoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97283
Muckle-Wells Syndrome
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:191900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Large for gestational age, Feeding difficulties in infancy, Abdominal distention, Delayed epiphys... ORPHA:226313
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulati... OMIM:612852
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abdominal pain, Abdominal distention, Chronic diarrhea, Vomiting, Nausea ORPHA:103907
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Elevated circulating C-reactive protein concentration OMIM:120100
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Myelodysplasia, Thrombocytopenia, Osteoporosis, Hepatic necrosis, Leukopenia, In... OMIM:127550
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Diarrhea 12, With Microvillus Atrophy
Osteopenia, Abdominal distention, Dependency on parenteral nutrition, Secretory diarrhea, Vomiting OMIM:619445
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Pyomyositis
Recurrent cutaneous abscess formation, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Thrombocytopenia, Leukocytosis, Hepatitis, Cholest... ORPHA:292
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Inflamma... OMIM:232220
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Hematemesis, Increased... OMIM:615846
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Vomiting, Lymphocytosis, Elevated hepatic iron con... OMIM:619991
Stevens-Johnson Syndrome
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Abnormality of neutrophi... ORPHA:36426
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Glucagonoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Episodic abdominal p... ORPHA:97280
Q Fever
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadeno... ORPHA:781
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Increased circulating ferritin concen... OMIM:619313
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Unusual gas... ORPHA:760
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Cirrhosis, Hepatic failure ORPHA:75234
Alpha-1-Antitrypsin Deficiency
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Tuberculosis
Weight loss ORPHA:3389
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis OMIM:616719
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Abnormal granulocytopoietic cell morphology, Elliptocytosis, Bon... OMIM:300835
Renpenning Syndrome
Cachexia ORPHA:3242
Thyroid Hemiagenesis
Abdominal distention, Jaundice, Constipation ORPHA:95719
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Primary Sclerosing Cholangitis
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Hypoalbuminemia, Hepatic fibro... ORPHA:171
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme lev... ORPHA:264580
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Vipoma
Poor appetite, Anorexia, Secretory diarrhea, Hepatomegaly, Follicular thyroid carcinoma, Episodic... ORPHA:97282
Athyreosis
Abdominal distention, Constipation, Feeding difficulties ORPHA:95713
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Hepatomegaly, Failure to thrive, Chronic neutropenia, Diarrhea, Osteoporosis, Enteroc... ORPHA:79259
Flynn-Aird Syndrome
Bone cyst, Cachexia ORPHA:2047
Shigellosis
Failure to thrive in infancy, Abscess, Anorexia, Abdominal pain, Thrombocytopenia, Leukocytosis, ... ORPHA:810
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Abdominal adhesions, Feeding difficulties, Ne... OMIM:616395
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Diarrhea... OMIM:211600
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abdominal distention, Delayed epiphyseal ossification, Generalized bone demineralization, Hepatos... ORPHA:93352
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Lymphoproliferative disorder, Hodgkin lymphoma, Neutropenia, Lymphop... OMIM:614868
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Megakaryocyte dysplasia, Myelodysplasia, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymph... ORPHA:508542
Cap Polyposis
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Constipation ORPHA:160148
Ileal Neuroendocrine Tumor
Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic cholestasis, Episod... ORPHA:100078
High Altitude Pulmonary Edema
Nausea and vomiting, Leukocytosis, Anorexia ORPHA:330012
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Osteoporosis, Abnormal bone marrow cell morphology, Ascites ORPHA:87876
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Abdominal pain, Splenomegaly... ORPHA:465508
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Herpes Simplex Virus Encephalitis
Nausea and vomiting, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentr... ORPHA:1930
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Abdominal distention, Diarrhea, Malnutrition, Enterocolitis, Choles... ORPHA:95427
Loeffler Endocarditis
Left ventricular hypertrophy, Eosinophilia, Weight loss ORPHA:75566
Sialuria
Splenomegaly, Protuberant abdomen, Hepatomegaly OMIM:269921
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Carpal osteolysis, Metacarpal osteolysis, Osteolysis, Cachexia ORPHA:2774
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarr... OMIM:300972
Free Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced bone mineral density, Ascites ORPHA:834
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Hyper-Igd Syndrome
Neutrophilia, Abdominal pain, Increased circulating IgA level, Splenomegaly, Diarrhea, Chronic di... OMIM:260920
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Myopathy With Extrapyramidal Signs
Extremely elevated creatine kinase, Hepatomegaly, Elevated circulating creatine kinase concentrat... OMIM:615673
Toxic Epidermal Necrolysis
Acute hepatic failure, Gastrointestinal hemorrhage, Nausea and vomiting, Abdominal pain, Thromboc... ORPHA:537
Legionnaires Disease
Nausea and vomiting, Anorexia, Abdominal pain, Splenomegaly, Diarrhea, Jaundice, Hepatitis, Lymph... ORPHA:549
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Oste... OMIM:305000
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level ORPHA:2268
Mosaic Variegated Aneuploidy Syndrome 1
Small for gestational age, Feeding difficulties in infancy, Embryonal rhabdomyosarcoma, Leukemia,... OMIM:257300
Hereditary Chronic Pancreatitis
Elevated circulating C-reactive protein concentration, Abdominal pain, Leukocytosis, Jaundice, Re... ORPHA:676
Glycogen Storage Disease Ixb
Splenomegaly, Diarrhea, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Muckle-Wells Syndrome
Hepatomegaly, Splenomegaly, Anemia, Abdominal pain ORPHA:575
Hemochromatosis, Type 2A
Splenomegaly, Increased circulating ferritin concentration, Cirrhosis, Hepatomegaly OMIM:602390
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Gastrointestinal dysmotil... OMIM:603041
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Gastrostomy tube f... OMIM:613385
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Diarrhea, Osteopo... ORPHA:79240
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypop... OMIM:612541
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Abdominal pain... OMIM:249100
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Hypoal... OMIM:617303
Pediatric-Onset Graves Disease
Nausea and vomiting, Hepatomegaly, Craniosynostosis, Splenomegaly, Diarrhea, Jaundice, Neutropeni... ORPHA:525731
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Glucose/Galactose Malabsorption
Hyperactive bowel sounds, Abdominal distention, Failure to thrive, Chronic diarrhea OMIM:606824
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Acute Radiation Syndrome
Diarrhea, Vomiting, Granulocytopenia, Lymphopenia, Thrombocytopenia ORPHA:454831
Mcleod Syndrome
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, R... OMIM:300842
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Abdominal distention, Hepatitis, Bloody diarrhea, Hypoplasia of the ... ORPHA:436252
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis,... OMIM:601847
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Abdominal distention, Chronic diarrhea, Decreased inte... OMIM:615237
Pseudo-Torch Syndrome 1
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Failure to thrive, Thrombocytopenia OMIM:251290
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Neoplasm, Thrombocytopenia ORPHA:169090
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepatic chole... OMIM:607765
Roifman Syndrome
Lymphadenopathy, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:616651
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Anorexia, Abdominal pai... ORPHA:91500
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced bone mineral density, Cachexia, Weight loss ORPHA:1979
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Down Syndrome
Abnormality of the lymphatic system, Obesity, Acute megakaryocytic leukemia ORPHA:870
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Increased circulating IgA level, Enlarged polycysti... ORPHA:2298
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Micro... OMIM:613070
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia OMIM:618186
B4Galt1-Cdg
Hepatomegaly, Small for gestational age, Elevated circulating creatine kinase concentration, Sple... ORPHA:79332
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Eosinophilia, Abscess, Increased circulating IgE level, Hodg... OMIM:615816
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... ORPHA:77293
Primary Peritoneal Carcinoma
Nausea and vomiting, Abdominal pain, Abdominal distention, Peritonitis, Neoplasm, Constipation ORPHA:168829
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Failure to thrive, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Hepa... OMIM:235555
Gm1-Gangliosidosis, Type Ii
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Dysphagia, Failure to thrive, Thin bony cortex OMIM:230600
Renal Nutcracker Syndrome
Weight loss, Nausea, Anemia, Abdominal pain ORPHA:71273
Achondrogenesis Type 1A
Abdominal distention, Abnormal enchondral ossification ORPHA:93299
Dubowitz Syndrome
Abnormality of neutrophils, Craniosynostosis, Chronic diarrhea, Lymphoma, Acute lymphoblastic leu... ORPHA:235
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... OMIM:611881
Hyperparathyroidism, Neonatal Severe
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Constipation, Failure to thrive, Anemia OMIM:239200
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Ovarian Fibroma
Mesenteric cyst, Odontogenic keratocysts of the jaw, Ovarian fibroma, Abdominal pain, Abdominal d... ORPHA:314473
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Abdominal distention, Microvesicular hepatic steatosis, ... OMIM:618528
Hirschsprung Disease, Susceptibility To, 1
Abdominal distention, Constipation, Vomiting, Enterocolitis OMIM:142623
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Nausea and vomiting, Leukocytosis, Thrombocytopenia ORPHA:83601
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction OMIM:193250
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Tetrasomy 12P
Cachexia ORPHA:884
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Osteolysis, Hepatosplenomega... ORPHA:464329
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Generalized Pustular Psoriasis
Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Obesity, Hypoalb... ORPHA:247353
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Increased circulating ferritin concentration, Thromb... ORPHA:167
Folinic Acid-Responsive Seizures
Abdominal distention ORPHA:79097
Dubowitz Syndrome
Aplastic anemia, Feeding difficulties in infancy, Chronic diarrhea, Lymphoma, Acute lymphoblastic... OMIM:223370
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration OMIM:614204
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Gastroparesis, Abdominal distention, Cachexia ORPHA:1876
Qazi-Markouizos Syndrome
Chronic constipation, Delayed ossification of carpal bones, Abdominal distention ORPHA:3010
Polyembryoma
Abnormal peritoneum morphology, Abdominal mass, Elevated circulating alpha-fetoprotein concentrat... ORPHA:180229
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia, Abnormal granulocytopoietic cell morphology OMIM:612376
Achondrogenesis, Type Ib
Abdominal distention, Absent or minimally ossified vertebral bodies OMIM:600972
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Abdominal pain, Splenomegaly, Increased circulating ferritin concentr... OMIM:235200
Nephrotic Syndrome, Type 1
Small for gestational age, Abdominal distention, Gastroesophageal reflux, Hypoalbuminemia, Hypopr... OMIM:256300
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Congenital Tufting Enteropathy
Abdominal distention, Chronic diarrhea, Secretory diarrhea, Weight loss, Cholestatic liver diseas... ORPHA:92050
Rat-Bite Fever
Abdominal aseptic abscess, Lymphadenitis, Diarrhea, Weight loss, Vomiting, Pancreatitis, Anemia ORPHA:31205
Hurler Syndrome
Hepatomegaly, Splenomegaly, Cranial hyperostosis, Enlarged tonsils, Hepatosplenomegaly, Protubera... OMIM:607014
Erdheim-Chester Disease
Nausea and vomiting, Increased bone mineral density, Abdominal pain, Retroperitoneal fibrosis, Os... ORPHA:35687
Joubert Syndrome 33
Splenomegaly OMIM:617767
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss, Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Splenomegaly, Jaundice... OMIM:615512
Cryptococcosis
Lymphoid leukemia, Mediastinal lymphadenopathy, Peritonitis, Osteolysis, Neoplasm, Vomiting, Cirr... ORPHA:1546
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Splenomegaly, Hepatosplenomegaly, Failure to thrive, Poor suck OMIM:613563
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadeno... ORPHA:809
Addison Disease
Nausea and vomiting, Normocytic anemia, Anorexia, Abdominal pain, Thiamine-responsive megaloblast... ORPHA:85138
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Cardiomegaly, Splenomegaly, Malnutrition, Hypoalbuminemia, ... ORPHA:75565
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma, Protuberant abdomen, Large for gestational age OMIM:618272
Tyrosinemia, Type I
Acute hepatic failure, Gastrointestinal hemorrhage, Hepatomegaly, Failure to thrive, Elevated cir... OMIM:276700
Immunodeficiency 55
Absent natural killer cells, Myelodysplasia, Diarrhea, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r... ORPHA:206436
Meckel Syndrome, Type 8
Abdominal distention, Enlarged kidney OMIM:613885
Hirschsprung Disease
Nausea and vomiting, Intestinal obstruction, Failure to thrive in infancy, Abdominal pain, Diarrh... ORPHA:388
Acute Adrenal Insufficiency
Nausea and vomiting, Normocytic anemia, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipa... ORPHA:95409
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Constipation ORPHA:99745
Niemann-Pick Disease, Type C1
Hepatomegaly, Fatal liver failure in infancy, Bone-marrow foam cells, Fetal ascites, Splenomegaly... OMIM:257220
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Ovarian neoplasm, Lymphadenopathy, Weight loss, Neoplasm, Neopla... ORPHA:2221
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Constipation, Gastroesopha... ORPHA:813
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Decreased body weight, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Asci... OMIM:608013
Doors Syndrome
Sagittal craniosynostosis, Feeding difficulties, Gastroesophageal reflux, Capillary hemangioma, T... ORPHA:79500
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Oropharyngeal squamous cell carcinoma, Autoimmune thromb... ORPHA:391487
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Failure to thrive, Abdominal distention, Rickets, Increased hepatic gly... ORPHA:2088
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased circulating IgA le... OMIM:256040
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Delayed pubic bone ossification, Small for gestational age, Protu... OMIM:613330
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Eosinophilia, Abdominal pain, Weight loss, Gastroeso... ORPHA:183
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia, Feeding difficulties ORPHA:217346
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Diarrh... OMIM:619849
Gm1 Gangliosidosis
Coarse metaphyseal trabecularization, Splenomegaly, Hepatosplenomegaly, Feeding difficulties, Wei... ORPHA:354
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Necrotizing enterocolitis, Lympho... OMIM:619573
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abdominal pain, Abdominal distention, Peritonitis, Fibro... ORPHA:314478
Caroli Syndrome
Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,... ORPHA:480520
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal pain, Splenomegaly... ORPHA:85414
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Splenomegaly, Diarrhea, Dense calvaria OMIM:252920
Urachal Cyst
Abdominal mass, Abscess, Elevated circulating C-reactive protein concentration, Abdominal pain, L... ORPHA:488
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Abnormality of the pancreas, Reduced bone mineral density, Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Spondylocostal Dysostosis 1, Autosomal Recessive
Abdominal distention, Protuberant abdomen OMIM:277300
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia ORPHA:391307
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Cholestat... ORPHA:65682
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Hepatic bridging fibrosis, Splenomegaly, Diarrhea, Intrahepatic ... OMIM:613812
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Thrombocytopenia, Diarrhea, Leukocytosis, Schistocytosis, Perito... ORPHA:90038
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure OMIM:615630
Pachydermoperiostosis
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Osteoporosis, Osteolysis, Neoplasm of th... ORPHA:2796
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Diarrhea, Jaundi... ORPHA:677
Staphylococcal Necrotizing Pneumonia
Leukopenia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:36238
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Pancolitis, Inflammation of the large intestine, B lymphocytopenia, Bone marrow hyp... OMIM:620133
Donohue Syndrome
Abdominal distention, Cholestasis, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Severe fa... OMIM:246200
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Pelvic mass, Soft tissue neoplasm, Vaginal neoplasm, Reduced C-pe... ORPHA:2126
X-Linked Creatine Transporter Deficiency
Ileus, Constipation, Cachexia ORPHA:52503
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Attrv30M Amyloidosis
Diarrhea, Weight loss, Constipation, Cardiomegaly ORPHA:85447
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Normocytic anemia, Elevated circulating C-reactive protein concentration, An... ORPHA:49041
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Diarrhea, Intrahepatic cholestasis, Jaundice, Portal inflammation, Po... OMIM:602347
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Gastroesophageal reflux, Hepatomegaly ORPHA:2414
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Fulminant hepatitis, Odynophagia, Diarrhea... ORPHA:319213
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Mucolipidosis Type Ii
Craniosynostosis, Splenomegaly, Hepatosplenomegaly, Weight loss, Protuberant abdomen, Left ventri... ORPHA:576
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Pleural Mesothelioma
Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia ORPHA:50251
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac... ORPHA:100082
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Anorexia, Abdominal pain, Weight loss, ... ORPHA:79430
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Decreased circulating total IgM,... OMIM:612301
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Ellis Van Creveld Syndrome
Abnormal bone marrow cell morphology, Failure to thrive, Acute leukemia ORPHA:289
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Abnormality of T cell physiology, Generalized lymphadenopathy, Anorex... OMIM:181000
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Decreased circulating antibody level, Delayed ossification of carpal bones, Lymphop... OMIM:617425
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Prolonged neonatal jaundice, Thrombo... OMIM:225750
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Hamartomatous polyposi... ORPHA:109
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Splenomegaly, Elevated circ... OMIM:205400
Proteus Syndrome
Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Capillary hemangioma, E... ORPHA:744
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Diarrhea, Dense calvaria, Hepatomegaly OMIM:252900
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Poikiloderma With Neutropenia
Splenomegaly, Leukopenia, Elevated circulating creatine kinase concentration, Neutropenia OMIM:604173
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Splenomegaly, Neutropenia, Feeding difficulties OMIM:617050
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Osteoporosis, Osteolys... ORPHA:79277
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Failure to thrive, Hepatocellular carcinoma, Reye syndrome-l... OMIM:256810
Noonan Syndrome 2
Leukemia OMIM:605275
Greenberg Dysplasia
Hepatomegaly, Costal cartilage calcification, Patchy variation in bone mineral density, Anterior ... OMIM:215140
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Anemia, Inc... ORPHA:77261
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Elevated circulating C-reactive protein concentration, Abdominal pain, Sp... ORPHA:32960
Mucolipidosis Ii Alpha/Beta
Osteopenia, Hepatomegaly, Increased serum beta-hexosaminidase, Craniosynostosis, Cardiomegaly, Sp... OMIM:252500
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Abdominal distention, Jaundice, Osteoporosi... ORPHA:186
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatic steatosis, Hepatomegaly, Pancreatic fibrosis, Small for ge... ORPHA:699
Whim Syndrome
Bone marrow hypercellularity, Myelokathexis, Lymphadenitis, Abnormal neutrophil morphology, Decre... ORPHA:51636
Lipodystrophy, Congenital Generalized, Type 4
Osteopenia, Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Ileus... OMIM:613327
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Hepatomegaly, Facial capillary hemangioma, Abdominal distention, Gastrointesti... OMIM:270400
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac... ORPHA:100080
Reni Syndrome
Lymphopenia, Hypoalbuminemia OMIM:617575
Gonadoblastoma
Abdominal distention, Ovarian gonadoblastoma, Dysgerminoma, Abdominal pain ORPHA:206484
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Failure to thrive OMIM:201100
Mucopolysaccharidosis, Type Vii
Splenomegaly, Protuberant abdomen, Hepatomegaly OMIM:253220
American Trypanosomiasis
Hepatomegaly, Abnormal large intestine physiology, Abdominal pain, Splenomegaly, Diarrhea, Lympha... ORPHA:3386
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Eisenmenger Syndrome
Brain abscess, Hepatomegaly, Elevated circulating C-reactive protein concentration, Abdominal dis... ORPHA:97214
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Microcytic anemia, Leukocytosis, Chronic d... ORPHA:99843
Leukocyte Adhesion Deficiency, Type I
Leukocytosis, Chronic diarrhea, Rectal abscess, Elevated circulating C-reactive protein concentra... OMIM:116920
Xfe Progeroid Syndrome
Failure to thrive, Ascites, Hypoalbuminemia, Cachexia OMIM:610965
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Abdominal pain, Splenomegaly, Mediast... ORPHA:91138
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Obesity, Inflammation of the large intesti... ORPHA:70591
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Niemann-Pick Disease, Type C2
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, Prolonged neonatal j... OMIM:607625
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Oculopharyngodistal Myopathy
Impaired oropharyngeal swallow response, Weight loss, Oral-pharyngeal dysphagia ORPHA:98897
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Secondary Intestinal Lymphangiectasia
Lymphopenia, Abdominal colic, Intestinal obstruction, Decreased circulating IgG1 level, B-cell ly... ORPHA:90363
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Craniosynostosis, T... OMIM:620005
Juvenile Xanthogranuloma
Myeloproliferative disorder ORPHA:158000
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegal... ORPHA:1775
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Splenomegaly, Diarrhea, Dysphagia, Dense calvaria OMIM:252930
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis, Hepatomegaly OMIM:618541
Fraser Syndrome 2
Abdominal distention, Hypoplasia of the thymus OMIM:617666
Erythrokeratodermia Variabilis
Neoplasm of the skin, Weight loss ORPHA:317
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Osteopor... ORPHA:97685
Mosaic Variegated Aneuploidy Syndrome
Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Osteolysis, Acute lymphoblastic leukemia, Neo... ORPHA:1052
Fanconi-Bickel Syndrome
Hepatomegaly, Osteomalacia, Poor appetite, Abdominal distention, Intrahepatic cholestasis, Ricket... OMIM:227810
Nk-Cell Enteropathy
Lymphoproliferative disorder, Abdominal pain, Diarrhea, Increased T cell count, Hematochezia, Con... ORPHA:263665
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Abnormal number of gra... ORPHA:99826
Gm1-Gangliosidosis, Type I
Splenomegaly, Vacuolated lymphocytes, Hepatomegaly OMIM:230500
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Isaacs Syndrome
Weight loss ORPHA:84142
Vici Syndrome
Lymphopenia, Failure to thrive, Left ventricular hypertrophy, Elevated circulating creatine kinas... OMIM:242840
Cockayne Syndrome
Hepatomegaly, Cachexia, Feeding difficulties in infancy, Splenomegaly, Gastroesophageal reflux, G... ORPHA:191
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Protuberant abdomen, Failure to... OMIM:264700
8P11.2 Deletion Syndrome
Splenomegaly, Hemolytic anemia, Spherocytosis, Feeding difficulties ORPHA:251066
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Protuberant abdomen, Failure to... OMIM:277440
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Abdominal pain, Splenome... ORPHA:2137
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
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
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:440437
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Schwartz-Jampel Syndrome
Increased bone mineral density, Abnormally ossified vertebrae, Elevated circulating creatine kina... ORPHA:800
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Cowden Syndrome 1
Fibroadenoma of the breast, Breast carcinoma, Decreased circulating antibody level, Hamartomatous... OMIM:158350
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Khan-Khan-Katsanis Syndrome
Failure to thrive, Dysphagia, Feeding difficulties, Neutropenia, Lymphopenia, Anemia OMIM:618460
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Hamartoma of tongue, Splenomegaly, Periportal fibrosis, Protuberant abdomen, Ascites OMIM:269860
Cushing Syndrome Due To Ectopic Acth Secretion
Anorexia, Pancreatoblastoma, Neoplasm of the thymus, Pituitary corticotropic cell adenoma, Pancre... ORPHA:99889
Mucopolysaccharidosis Type 3
Hepatomegaly, Craniofacial hyperostosis, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsi... ORPHA:581
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Protuberant abdomen OMIM:618019
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ... ORPHA:97289
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, T... OMIM:263700
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Feeding difficulties in infancy, Feeding difficultie... OMIM:180849
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Lymphopenia, Anemia OMIM:616541
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Diarrhea, Lymphadenopathy, Abnormal liver parenchyma morphology,... ORPHA:1332
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Diarrhea, Gastrointestinal inflammatio... ORPHA:95455
Huntington Disease-Like 2
Weight loss OMIM:606438
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Failure to thrive in infancy, Nephroblastoma, Ependymoma, Annular pancre... ORPHA:798
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaundice, Copper accumul... ORPHA:309854
Gaucher Disease
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Elevated circulating C-re... ORPHA:355
Diaphanospondylodysostosis
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero... OMIM:608022
Nephroblastoma
Abdominal pain, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Weight loss, Neopla... ORPHA:654
Fusariosis
Brain abscess, Lung abscess, Hematological neoplasm, Abnormality of the spleen, Peritonitis, Abno... ORPHA:228119
Grfoma
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Pheochromocytoma, Hepatome... ORPHA:97261
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Lynch Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:144
Visceral Myopathy, Familial, With External Ophthalmoplegia
Abdominal distention, Malnutrition, Gastroparesis, Abdominal pain OMIM:277320
Ppoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Episodic abdominal pain, Intermitten... ORPHA:97278
Chime Syndrome
Osteolysis, Acute leukemia ORPHA:3474
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating creatine kinase concentration, An... ORPHA:732
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hepatic bridging fibros... OMIM:618641
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Lymphadenopathy, Neoplasm of the lung, Malignant neoplasm of the... ORPHA:142
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Large for gestational age, Protuberant abdomen, Decreased circulating IgA level ORPHA:457485
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Left ventricular hypertrophy, Weight loss ORPHA:3208
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Thrombocytopenia, Increased T ... ORPHA:797
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Sclerosis of skull base, Neutrop... OMIM:607944
Noonan Syndrome 3
Left unilambdoid synostosis, Juvenile myelomonocytic leukemia, Sagittal craniosynostosis OMIM:609942
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Juvenile Huntington Disease
Weight loss ORPHA:248111
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Leukemia, Lymphoma ORPHA:2526
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Feeding difficulties in infancy, Recurrent tonsillitis, Weight loss... ORPHA:171876
Alternating Hemiplegia Of Childhood
Anorexia, Oral-pharyngeal dysphagia, Abdominal distention, Gastrointestinal dysmotility, Diarrhea... ORPHA:2131
Hereditary Fructose Intolerance
Hepatomegaly, Abdominal pain, Abdominal distention, Diarrhea, Jaundice, Constipation, Vomiting, C... ORPHA:469
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Abdominal distention, Gastroesophageal reflux, Feeding difficulties OMIM:620275
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Elevated circulating C-... ORPHA:900
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Diarrhea 1, Secretory Chloride, Congenital
Abdominal distention, Failure to thrive, Secretory diarrhea, Increased circulating renin level OMIM:214700
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Abdominal distention, Microvesicular hepatic steatosis, Jaundice, Cholestasis,... OMIM:617156
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Abdominal pain, Increased ci... ORPHA:449395
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Protuberant abdom... ORPHA:289157
Mirizzi Syndrome
Abdominal colic, Anorexia, Abdominal pain, Abdominal distention, Jaundice, Pancreatitis, Gallblad... ORPHA:521219
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Ascites, Truncal obesity, Hepatic failure, Th... OMIM:301072
Dermatomyositis
Abnormal eosinophil morphology, Feeding difficulties in infancy, Gastrointestinal stroma tumor, L... ORPHA:221
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Abdominal pain, Biliary hyperplasia... ORPHA:567983
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Vomiting, Hepatic fibrosis, Intrahepatic bile duct dil... OMIM:301068
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Weight loss, Episodic abdominal pain, Paraganglioma, Nausea ORPHA:94080
Liposarcoma
Nausea and vomiting, Sarcoma, Weight loss, Abdominal pain ORPHA:69078
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia ORPHA:220295
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgG level, Le... ORPHA:99827
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Brain abscess, Abdominal pain, Thrombocytopenia, Diarrhea, Leukocytosis, Secret... ORPHA:544482
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, Increased hepatic echogenici... OMIM:619525
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Cavernous hemangioma, Right ventricular hype... OMIM:616028
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Acute Intermittent Porphyria
Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi... ORPHA:79276
Platyspondylic Dysplasia, Torrance Type
Abdominal distention ORPHA:85166
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae ORPHA:3035
Cirrhosis, Familial
Abdominal distention, Fulminant hepatitis, Micronodular cirrhosis, Jaundice, Biliary cirrhosis, C... OMIM:215600
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Delayed pubic bone ossification, Protuberant abdomen OMIM:184250
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Lymp... ORPHA:79078
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Chronic diarrhea, Cachexia ORPHA:3217
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Vacuolated lympho... ORPHA:565612
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Meckel Syndrome 14
Abdominal distention, Decreased calvarial ossification, Hepatic fibrosis, Protuberant abdomen OMIM:619879
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Myelodysplasia, Thrombocytopenia, Weight loss, Reduce... ORPHA:84
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Acute lymphoblastic leukemia, Hepatomegaly, Large for gestational age OMIM:280000
Poland Syndrome
Retinal hamartoma, Reduced bone mineral density, Acute leukemia, Abnormality of the liver, Neopla... ORPHA:2911
Yellow Fever
Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Abdominal p... ORPHA:99829
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Protuberant abdomen OMIM:617102
Ovarian Hyperstimulation Syndrome
Nausea and vomiting, Abdominal pain, Enlarged polycystic ovaries, Abdominal distention, Ascites, ... ORPHA:64739
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Prot... ORPHA:97287
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Increased circulating thyroglobulin level, Portal hypertension, Sagitta... OMIM:610199
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Lymphadenopathy ORPHA:411703
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Hepatomegaly, Craniosynostosis, Decreased proportion of CD8-positive T cells, Increa... ORPHA:508533
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly, Abdominal distent... OMIM:619534
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Down Syndrome
Myeloproliferative disorder, Acute megakaryocytic leukemia OMIM:190685
Polyarteritis Nodosa
Weight loss, Elevated circulating C-reactive protein concentration, Abdominal pain ORPHA:767
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly, Episodic abdominal pain, Vomiting, Nausea OMIM:238600
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Poor appetite, Weight loss ORPHA:312
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Multiple Endocrine Neoplasia Type 2
Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma of head and neck, Neoplasm of the ske... ORPHA:653
Trisomy 18
Cachexia ORPHA:3380
Reynolds Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis... OMIM:613471
Hemorrhagic Fever-Renal Syndrome
Abdominal pain, Hematemesis, Thrombocytopenia, Diarrhea, Leukocytosis, Melena, Vomiting, Decrease... ORPHA:340
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Abdominal distention, Diarrhea, Mal... OMIM:155310
Thyroid Hypoplasia
Abdominal distention, Jaundice, Constipation ORPHA:95720
Colchicine Poisoning
Leukocytosis, Diarrhea, Vomiting, Nausea ORPHA:31824
Biotinidase Deficiency
Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Vomiting OMIM:253260
Graves Disease, Susceptibility To, 1
Abnormal abdomen morphology, Weight loss OMIM:275000
Metachromatic Leukodystrophy, Late Infantile Form
Feeding difficulties in infancy, Abdominal distention, Cholecystitis ORPHA:309256
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Lymphoproliferative disorder, Lymphoma, Biliary cirr... ORPHA:289390
Seckel Syndrome
Craniosynostosis, Cachexia ORPHA:808
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Splenomegaly, Pancreatitis, Decreased circulating apolipoprotein C-II concentration OMIM:207750
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar neoplasm, Vaginal neop... ORPHA:1018
Fibrochondrogenesis 2
Protuberant abdomen OMIM:614524
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenom... ORPHA:652
Huntington Disease-Like 1
Weight loss ORPHA:157941
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism,... ORPHA:731
Hepatoerythropoietic Porphyria
Osteopenia, Hemolytic anemia, Splenomegaly, Osteoporosis, Osteolysis, Erythroid hyperplasia ORPHA:95159
Colonic Atresia
Abdominal distention, Abnormal mesentery morphology, Abdominal situs inversus ORPHA:1198
Familial Tumoral Calcinosis
Hyperostosis, Splenomegaly, Neoplasm of the skin, Hepatomegaly ORPHA:53715
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Hep... OMIM:602782
Hennekam Syndrome
Benign neoplasm of the central nervous system, Craniosynostosis, Splenomegaly, Pulmonary lymphang... ORPHA:2136
Chronic Graft Versus Host Disease
Pancytopenia, Anorexia, Abdominal pain, Diarrhea, Weight loss, Gastroesophageal reflux, Dysphagia... ORPHA:99921
Isotretinoin-Like Syndrome
Lymphopenia, Gastroesophageal reflux, Feeding difficulties ORPHA:2306
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Craniosynostosis, Splenomegaly, Reduced bone mineral density, Lymphadenopathy, Oste... ORPHA:667
Beckwith-Wiedemann Syndrome
Cardiomegaly, Feeding difficulties in infancy, Large for gestational age, Leiomyosarcoma, Neoplas... ORPHA:116
Viss Syndrome
Exostosis of the external auditory canal, Abdominal distention, Chronic diarrhea, Increased circu... OMIM:619472
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Inflammation of the large intestine, Lymphopenia, Dysphagia OMIM:619708
Behçet Disease
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Splenomegaly, Lymphad... ORPHA:117
Metachromatic Leukodystrophy, Adult Form
Abdominal distention, Cholecystitis, Bowel incontinence, Neoplasm of the gallbladder ORPHA:309271
Schneckenbecken Dysplasia
Advanced tarsal ossification, Advanced ossification of carpal bones, Protuberant abdomen OMIM:269250
Metachromatic Leukodystrophy, Juvenile Form
Abdominal distention, Cholecystitis ORPHA:309263
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Lipoma, Splenomegaly, Nephroblastoma, Cranial hyperostosis OMIM:612918
Osteosarcoma
Osteolysis, Weight loss ORPHA:668
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... ORPHA:2388
Cushing Disease
Pituitary corticotropic cell adenoma, Leukocytosis, Osteoporosis, Increased body weight, Truncal ... ORPHA:96253
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Abdominal distention, Secretory diarrhea OMIM:270420
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Anorexia ORPHA:1969
Giant Cell Arteritis
Abnormality of thrombocytes, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Weight loss, ... ORPHA:397
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Nasogastric tube feeding in infancy, Cavernous hemangioma of the face, Acute myelomonocytic leuke... ORPHA:99646
Kawasaki Disease
Nausea and vomiting, Abdominal pain, Leukocytosis, Diarrhea, Cervical lymphadenopathy, Hepatitis,... ORPHA:2331
X-Linked Acrogigantism
Abdominal distention, Pituitary adenoma, Increased body mass index ORPHA:300373
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Chronic diarrhea, Failure to thrive, Recurrent infection of the gastr... OMIM:612132
Thanatophoric Dysplasia, Type I
Protuberant abdomen OMIM:187600
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Decreased cranial base ossification, Protuberant abdomen OMIM:151210
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Schwannoma, Feeding difficulties, Weight lo... ORPHA:221098
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Large for gestational age, Hepatosplenomegaly, Feeding difficulties, Epiphyseal sti... ORPHA:96334
Perry Syndrome
Weight loss ORPHA:178509
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Rickets, Wei... OMIM:219800
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Periportal fibros... OMIM:263200
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... ORPHA:99978
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Os... ORPHA:143
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Splenomegaly,... ORPHA:342
Familial Visceral Myopathy
Abdominal distention, Abdominal situs inversus ORPHA:2604
Yao Syndrome
Diarrhea, Weight loss, Abdominal pain OMIM:617321
Zollinger-Ellison Syndrome
Pituitary corticotropic cell adenoma, Multiple lipomas, Pituitary prolactin cell adenoma, Nausea,... ORPHA:913
Familial Glucocorticoid Deficiency
Anorexia, Diarrhea, Testicular adrenal rest tumor, Episodic abdominal pain, Weight loss, Constipa... ORPHA:361
Leprechaunism
Hepatomegaly, Enlarged ovaries, Abdominal distention, Increased circulating renin level, Decrease... ORPHA:508
Glycogen Storage Disease Ia
Hepatomegaly, Osteoporosis, Protuberant abdomen, Hepatocellular carcinoma, Intermittent diarrhea,... OMIM:232200
Microvillus Inclusion Disease
Abdominal distention, Diarrhea ORPHA:2290
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Episodic... ORPHA:276621
Marfan Syndrome
Osteopenia, Osteoporosis, Slender build, Cachexia ORPHA:558
Currarino Syndrome
Perianal abscess, Gastrointestinal obstruction, Abdominal distention, Presacral teratoma, Chronic... OMIM:176450
Achondrogenesis, Type Ia
Abnormal hand bone ossification, Abnormal foot bone ossification, Protuberant abdomen, Unossified... OMIM:200600
Stickler Syndrome
Cachexia, Feeding difficulties in infancy, Reduced bone mineral density, Gastroesophageal reflux,... ORPHA:828
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Dysphagia ORPHA:216866
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... ORPHA:29072
Achondrogenesis, Type Ii
Absent vertebral body mineralization, Protuberant abdomen OMIM:200610
Goodpasture Syndrome
Anemia, Weight loss OMIM:233450
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... ORPHA:103918
Dyggve-Melchior-Clausen Disease
Failure to thrive, Protuberant abdomen ORPHA:239
Fibrochondrogenesis 1
Protuberant abdomen OMIM:228520
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Elevated hemoglobin A1c, Splenomeg... OMIM:269700
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abdominal distention, Vomiting, Elevated circulating creatine kinase concentration ORPHA:158684
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Peritonitis, Weight loss, Gastr... ORPHA:679
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abdominal distention, Neoplasm of the heart, Hypoperistalsis ORPHA:2241
Riddle Syndrome
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Abdominal pain... ORPHA:420741
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Weight loss, Failure to thrive, Enlarged kidney ORPHA:79128
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Adrenocortical Carcinoma
Abdominal pain, Adrenocortical carcinoma, Increased body weight, Weight loss, Lung adenocarcinoma ORPHA:1501
Lethal Kniest-Like Dysplasia
Protuberant abdomen ORPHA:2347
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Bullous Pemphigoid
Weight loss ORPHA:703
Acrodermatitis Enteropathica
Poor appetite, Anorexia, Chronic diarrhea, Weight loss, Failure to thrive ORPHA:37
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Craniosynostosis, Small cell lung carcinoma, Feeding diffic... ORPHA:821
Atelosteogenesis Type Ii
Facial midline hemangioma, Protuberant abdomen ORPHA:56304
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Elevated circulating creatine kinase concentration, Elevated circula... ORPHA:93672
Cranioectodermal Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Sagittal craniosynostosis, Osteoporosis, ... OMIM:218330
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Diarrhea, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Weight loss,... ORPHA:3385
Opsismodysplasia
Protuberant abdomen OMIM:258480
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Hypothyroidism, Congenital, Nongoitrous, 2
Feeding difficulties in infancy, Abdominal distention, Increased circulating thyroglobulin level,... OMIM:218700
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Perry Syndrome
Weight loss OMIM:168605
Digeorge Syndrome
Impaired T cell function, Splenomegaly, Obesity, Anemia, Abnormal thymus morphology, Hypoplasia o... OMIM:188400
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Abdominal distention ORPHA:79403
Thyroid Ectopia
Abdominal distention, Jaundice, Constipation ORPHA:95712
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... ORPHA:48435
Pyknoachondrogenesis
Craniofacial hyperostosis, Abnormal intramembranous ossification, Abdominal distention, Poorly os... ORPHA:3003
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Abdominal distention, Peritonitis OMIM:619351
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Weight loss, Dysphagia, Mildly elevated creatine ki... OMIM:607459
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Nocardiosis
Brain abscess, Liver abscess, Anorexia, Lymphadenitis, Peritonitis, Weight loss, Vomiting, Cutane... ORPHA:31204
Neu-Laxova Syndrome 2
Protuberant abdomen OMIM:616038
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Abdominal distention OMIM:271520
Atelosteogenesis, Type I
Protuberant abdomen OMIM:108720
Weill-Marchesani Syndrome 2
Thin bony cortex, Protuberant abdomen OMIM:608328
Arboleda-Tham Syndrome
Craniosynostosis, Feeding difficulties, Gastroesophageal reflux, Protuberant abdomen, Dysphagia OMIM:616268
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention OMIM:619362
Norrie Disease
Cachexia, Neoplasm of the eye, Failure to thrive, Vascular neoplasm ORPHA:649
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Protuberant abdomen ORPHA:50945
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Feeding difficulties, Protuberant abdomen, Tube feeding OMIM:619479
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Dysphagia ORPHA:411602
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Thyrotoxic Periodic Paralysis
Weight loss, Constipation, Mildly elevated creatine kinase, Obesity ORPHA:79102
Atresia Of Urethra
Abdominal distention, Ascites ORPHA:105
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Feeding difficulties, Weight loss, Dysphagia,... ORPHA:2020
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Stippled calcification in carpal bones, Increased circulating surfactant protein le... ORPHA:60025
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Osteopenia, Osteoporosis, Weight loss, Vomiting ORPHA:91347
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Oculopharyngodistal Myopathy 1
Weight loss, Elevated circulating creatine kinase concentration, Dysphagia OMIM:164310
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Abdominal distention, Abnormal pelvis bone ossification, Congenital hepatic fibrosis, Absent or m... ORPHA:93271
Reactive Arthritis
Inflammation of the large intestine, Weight loss, Diarrhea, Abdominal pain ORPHA:29207
Mowat-Wilson Syndrome
Abdominal distention, Constipation, Vomiting OMIM:235730
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Testicular adrenal rest tumor, Weight loss, Feeding difficulties, Vomiting, Failure to thrive ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Reduced bone mineral density, Weight loss, Progressive clavicular acroosteolysis, Osteolytic defe... ORPHA:740
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Weight loss ORPHA:3337

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 Zfand2b

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 Zfand2b.

No publications found that use IMPC mice or data for Zfand2b.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Zfand2btm438506(L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Zfand2btm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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