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Gene: Gimap5 MGI:2442232

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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:
GTPase, IMAP family member 5
Synonyms:
E230026N22Rik

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 Gimap5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Gimap5 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463

The table below shows human diseases predicted to be associated to Gimap5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Anemia, Leukopenia, I... OMIM:615285
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Villous atrophy, Skin rash, Elevated circulating C-reactive prot... OMIM:616050
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Failure to thrive in infancy, Eczema, Chronic diarrhea, Oligoarthri... OMIM:619510
Immunodeficiency 57 With Autoinflammation
Failure to thrive, Gastritis, Skin rash, Perianal abscess, Diarrhea, Bronchiectasis, Decreased ci... OMIM:618108
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Recurrent pne... OMIM:619281
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Diarrhea, Eczematoid derm... OMIM:269840
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Immunodeficiency 70
Decreased circulating total IgG, Furuncle, Celiac disease, Decreased circulating antibody level, ... OMIM:618969
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Recurrent otitis media, Decreased prop... OMIM:615615
Immunodeficiency, Common Variable, 11
Failure to thrive, Mucoid diarrhea, Increased circulating IgE level, Decreased proportion of clas... OMIM:615767
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Abnormal natura... OMIM:613101
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Acne, Recurrent skin infection... OMIM:300635
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Pneumonia, Splenomegaly, Diarrhea, Recurrent pneumonia, N... OMIM:607594
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphopenia, Autoimmune hemolytic anemia, Atrophic gastritis, Psoriasiform dermatit... OMIM:616100
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Hepatomegaly, Recurrent skin infections, Short stature, Postnatal growth retardation... OMIM:620210
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis, Ulcerative colitis, Decreased circu... OMIM:618394
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia, Pneumonia, Increased circulating IgE level, Chronic diarrhea, Atopic dermatitis, Ul... OMIM:617638
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... ORPHA:86841
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... OMIM:616860
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Eczema, Decreased proportion of CD8-posi... OMIM:617241
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Eosinophilic infiltration of the esophagus, Eczema, Increased circulating IgE level... OMIM:243700
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Decreased proportion of CD3-positive T cells, Decreased cir... ORPHA:331206
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Villous atrophy, Uveitis, Inflammation of the la... OMIM:614700
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Diarrhea, Decreased circulating antibody level, Growth delay, Decreased circulating to... OMIM:614069
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Abnormal small intestinal villus morphology, Hypoalbuminemia, Hypocalcemia, ... ORPHA:90362
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, De... ORPHA:169154
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Short stature, Pneumonia, Malabsorption, Protruding tongue, Diarrhe... OMIM:242860
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody le... ORPHA:33355
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Autoimmune thrombocytopenia, Spl... OMIM:617514
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Colitis, Infectious ence... OMIM:616098
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Increased circulating IgE level, Recurrent pneumonia, Bro... OMIM:619752
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Gastroeso... ORPHA:443811
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decrea... OMIM:619705
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent c... OMIM:613501
Immunodeficiency 20
Recurrent otitis media, Reduced natural killer cell count, Recurrent sinusitis, Reduced natural k... OMIM:615707
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Intestin... OMIM:600802
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly OMIM:609981
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Leukocytosis, Diarrhea, Hepat... OMIM:209950
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Elevated circulating C-reactive protein c... OMIM:619381
Wiskott-Aldrich Syndrome 2
Eczema, Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defec... OMIM:614493
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating total IgM, Neutropenia, Intrauterine growth retardati... ORPHA:2643
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Increased circulating IgE level, Hypereosinophilia, ... OMIM:212050
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Absence of lymph node germina... ORPHA:277
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytop... OMIM:619164
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Chro... OMIM:616433
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Abdominal pain, Malabsor... ORPHA:100025
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Chronic diarrhea,... OMIM:102700
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, Chronic diarrhea, Hepatosplen... ORPHA:911
Immunodeficiency 22
Failure to thrive, Pericarditis, Abscess, Thrombocytopenia, Diarrhea, Protracted diarrhea, Decrea... OMIM:615758
Sea-Blue Histiocyte Disease
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Elevated circulating... OMIM:269600
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymphadenopathy, De... ORPHA:397596
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Enterocolitis, Ulcerative colitis, Decreased proportion of class-switched memory B cells, Decreas... OMIM:614878
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... OMIM:602450
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Lymphadenopathy, Decreased proportion of class-switched memory B ce... OMIM:615513
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Immunodeficiency 61
Frequent Giardia lamblia infestation, Decreased circulating IgG4 level, Malabsorption, Obesity, A... OMIM:300310
Immunodeficiency, Common Variable, 14
Psoriasiform dermatitis, Chronic diarrhea, Decreased proportion of class-switched memory B cells,... OMIM:617765
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Decreased lymph... OMIM:619313
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Immunodeficiency 46
Chronic oral candidiasis, Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating ... OMIM:616740
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic diarrh... OMIM:615607
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Postnatal growth retardation, Decreased circulating antibody level, Leukopen... OMIM:615190
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunct... OMIM:601457
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Abnormality of the liver, Thrombocytopenia ORPHA:1980
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Chronic oral candidiasis, Eosinophilia, Anorexia, Pneumonia, Diarrhea, Recurrent pne... ORPHA:169160
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... ORPHA:64743
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Abnormal blood ion concentration, Iron deficiency anemia, Tubuloint... ORPHA:37042
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia ORPHA:231249
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency By Defective Expression Of Mhc Class Ii
Sinusitis, Abnormal CD4:CD8 ratio, Acute otitis media, T lymphocytopenia, Neutropenia, Autoimmune... ORPHA:572
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Increased circulating antibody level, Histiocytosis OMIM:235900
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Diarrhea,... OMIM:275350
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Failure to thrive, Lymphocytic interstitial pneumonia,... OMIM:618495
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Decreased lymphocyte proliferati... OMIM:620282
Agammaglobulinemia, X-Linked
T lymphocytopenia, Decreased circulating IgE, Conjunctivitis, Neutropenia, Decreased circulating ... OMIM:300755
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
X-Linked Agammaglobulinemia
Sinusitis, Glossoptosis, Conjunctivitis, Hypocalcemia, Neutropenia, Chronic otitis media, Recurre... ORPHA:47
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorex... ORPHA:507
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Increased circul... ORPHA:100024
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Recurrent infection of the gastrointestinal tract, Decreased circ... OMIM:609529
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Growth delay, Decreased circulating total Ig... OMIM:619774
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia OMIM:189800
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Rhizomelia, Decreased circulating antibody level, Anemia, Leukopenia, Bone... OMIM:618116
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Elevated circulating C-react... OMIM:613011
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... OMIM:301000
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, R... OMIM:617780
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Psoriasiform dermatitis, Decreased lymphocyte proliferation in response... ORPHA:221139
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Hepatic necrosis, Anemia, Leukopenia, Increased mean corpuscular volume, Bone ma... OMIM:127550
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Cholangitis, Pneumonia, Leukocytosis, Chronic diarrhea, Decreased pr... OMIM:619652
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Hypoalbuminemia, Vomiting, Hypocholesterolemia, Constrictive pericarditis, A... ORPHA:90363
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Skin rash, Neutrophilic infiltration of the skin, Elevated circulating C... OMIM:618048
Reticuloendotheliosis, X-Linked
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly OMIM:312500
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiectasis, Chr... OMIM:616005
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hep... OMIM:604416
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Pneumonia, Glomerulonephritis, Plasmacytosis, Increased circulating ... OMIM:247800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... OMIM:304790
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Recurrent otitis media, B lymphocytopenia OMIM:616941
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Chronic oral candidiasis, Reduced natural killer ce... OMIM:608233
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Lymphopenia, Hypoproteinemia, Decreased circulating antibody level ORPHA:1116
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Schnitzler Syndrome
Hepatomegaly, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM l... ORPHA:37748
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Anterior uveitis, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small intestinal dysmot... ORPHA:298
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Anisocytosis OMIM:604273
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Malabsorption, Intestinal lymphangiectasia, Lymphopenia, Neonata... OMIM:152800
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... OMIM:618213
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Abdominal pain, Malabsorption, Diarrhea, Decreased circulat... OMIM:226300
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Diarrhea, Recurrent... OMIM:240500
Bloom Syndrome
Poor appetite, Uveitis, Gastroesophageal reflux, Otitis media, Stomach cancer, Decreased circulat... ORPHA:125
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... ORPHA:98870
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Short stature, Abscess, Eczema, Anal fissure, Perianal absc... OMIM:618935
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Cachexia, Splenomegaly, Diarrhea, M... ORPHA:2930
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Celiac disease, ... OMIM:615952
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Short stature, Feeding difficulties, Growth delay, Gastroesophageal r... ORPHA:251009
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, T lymphocytopenia, Hemolytic anemia, Psoriasiform dermatitis, Decreased proporti... OMIM:606367
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Abnormal nasopharyngeal adenoid morphology... ORPHA:3392
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Boutonneuse Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Abdominal pain, Cervical lymph... ORPHA:83313
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Elevated hepatic transaminase, Jaundi... OMIM:301045
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Anorexia, Cachexia... ORPHA:824
Dyskeratosis Congenita, Digenic
Failure to thrive, Short stature, Decreased circulating total IgM, Gastroesophageal reflux, Oral ... OMIM:620040
Syndromic Diarrhea
Villous atrophy, Bloody diarrhea, Abnormality of the liver, Colitis, Hypoplasia of the thymus, He... ORPHA:84064
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Abdominal dist... ORPHA:75233
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly, Lymphadenopath... OMIM:301078
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ... OMIM:614699
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Abnormal lymphocyte physiol... ORPHA:99867
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Diarrhea, Hepatiti... ORPHA:33110
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic failure, Thrombocytop... ORPHA:108
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Anisocytosis, Microvesicular ... OMIM:618278
Hereditary Folate Malabsorption
Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili... ORPHA:90045
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, B ... OMIM:150550
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... ORPHA:848
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Failure to thrive, Sinusitis, Skin rash, Abnormality of th... ORPHA:229717
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,... OMIM:229050
Immunodeficiency 75 With Lymphoproliferation
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Lymphadenopathy, H... OMIM:619126
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Atrophic gastritis, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Pyloric stenosis... ORPHA:381
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... OMIM:251880
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Secretory Component Deficiency
Chronic intestinal candidiasis, Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Generalized lymphadenopathy, P... OMIM:618986
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis... OMIM:618963
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature, Bronchiectasis OMIM:615139
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Elevated hepatic transaminase, Diffuse hepatic stea... ORPHA:2137
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva... ORPHA:90051
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Increased circulating IgM level, Monocy... ORPHA:2688
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Ataxia-Telangiectasia
Elevated hepatic transaminase, Lymphopenia, Short stature, Abnormal testis morphology, Decreased ... ORPHA:100
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hy... OMIM:620005
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Skin rash, Elevated circulating C-reactive protein co... OMIM:617099
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Abnormality of thrombocyte... OMIM:612840
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Abnormality of thrombocytes, Anemia ORPHA:3204
Transaldolase Deficiency
Thrombocytopenia, Cirrhosis, Anemia, Hepatosplenomegaly ORPHA:101028
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thro... OMIM:610333
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis,... OMIM:608898
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Cervi... ORPHA:2686
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Congenital hyp... ORPHA:77297
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Beta-Thalassemia Major
Extramedullary hematopoiesis, Hepatic fibrosis, Hypoparathyroidism, Hepatomegaly, Anemia of inade... ORPHA:231214
Icf Syndrome
Short stature, Abnormality of neutrophils, Malabsorption, Protruding tongue, Decreased circulatin... ORPHA:2268
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Failure to thriv... OMIM:610377
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Myositis, S... OMIM:617591
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocyt... ORPHA:391487
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:278000
Roifman Syndrome
Short stature, Eosinophilia, Eczema, Postnatal growth retardation, Recurrent pneumonia, Hepatospl... ORPHA:353298
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Mogs-Cdg
Hepatomegaly, Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating tot... ORPHA:79330
Mirage Syndrome
Patent ductus arteriosus, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia OMIM:617053
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Vomiting, Hypocalcemia, Short stature, Abdominal pain, Delayed puberty, E... OMIM:212750
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Maculo... ORPHA:822
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Bronchiectasis, Feeding diffi... OMIM:620184
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased circulating IgE level, Bronchiectasi... OMIM:618523
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hemophagocytosis, Hepatosplenomegaly OMIM:607624
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Cachexia, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomat... OMIM:175500
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Nausea and vomiting, Cach... ORPHA:83469
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Short stature, Eczema, Alle... OMIM:618131
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Splenomegaly... OMIM:170100
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Agammaglobulinemia 1, Autosomal Recessive
Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agam... OMIM:601495
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia... ORPHA:83471
Good Syndrome
Abnormal leukocyte morphology, Sinusitis, Recurrent skin infections, Mediastinal lymphadenopathy,... ORPHA:169105
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, As... OMIM:614034
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis... ORPHA:67
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Agammaglobulinemia, Eczematoid dermatitis, Absent circulating B cells, Fai... OMIM:619693
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Short stature, Elevated circulating C-reactive protein concentration, Microcytic anemia, Recurren... OMIM:619750
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset d... ORPHA:158048
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Elevated circulating C-re... OMIM:619573
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Decreased lymphocyte proliferation in response to anti-CD3,... OMIM:615468
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i... OMIM:619130
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Anemia, Leukopenia, Pancreatitis, Thrombocytopenia ORPHA:27
Iga Pemphigus
Neutrophilic infiltration of the skin, Eosinophilia, Monoclonal elevation of circulating IgA, Inc... ORPHA:555905
Bloom Syndrome
Small for gestational age, Elevated hemoglobin A1c, Postnatal growth retardation, Cryptorchidism,... OMIM:210900
Gaucher Disease, Type Iii
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatomegaly OMIM:231000
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Anemia, Decreased circulating total IgM, Growth ... OMIM:612301
Shigellosis
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Bloody diarrhea, Par... ORPHA:810
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Rhabdoid Tumor
Thrombocytopenia, Lymphadenopathy, Anemia, Neoplasm of the liver ORPHA:69077
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Impaired Ig class switch recombination, Lympha... OMIM:605258
Malaria
Anemia, Thrombocytopenia ORPHA:673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:289916
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Thrombocytopenia, Splenomega... ORPHA:77259
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Elevated circulating C-reactive protein ... ORPHA:2070
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Recurrent ... ORPHA:275
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Increased circulating inter... ORPHA:3243
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Patent ductus arteriosus, Anemia, Hepatomegaly ORPHA:2123
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, He... ORPHA:210136
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Portal Hypertension, Noncirrhotic, 2
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... OMIM:619463
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hepatomegaly, Sh... OMIM:614162
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Elevat... ORPHA:449400
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... OMIM:618849
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Neonatal Lupus Erythematosus
Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... ORPHA:398124
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Impaired Ig class switch recombination, Absence of ly... OMIM:608184
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Decreased response to growth hormo... OMIM:615577
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:614727
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Intestinal perforation, Rectal prolapse, Bloody diarrhea, Vomiting, Acute colitis, Hyponatremia, ... ORPHA:90038
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Whipple Disease
Hyponatremia, Hepatomegaly, Gastrointestinal hemorrhage, Myositis, Pericarditis, Anorexia, Abdomi... ORPHA:3452
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Anorexia, Knee osteoarthrit... ORPHA:1304
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Immunodeficiency 23
Hemolytic anemia, Failure to thrive, Membranoproliferative glomerulonephritis, Eosinophilia, Absc... OMIM:615816
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Short stature, Abnormal l... ORPHA:1830
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:619151
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, ... OMIM:242700
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Enter... OMIM:307200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation, Decreased circulating antibo... OMIM:618042
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... ORPHA:905
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia OMIM:616959
Hemophagocytic Lymphohistiocytosis, Familial, 2
Leukopenia, Hypoalbuminemia, Infectious encephalitis, Hyponatremia, Hepatomegaly, Hepatosplenomeg... OMIM:603553
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:617388
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Chronic decreased circulating tota... OMIM:613496
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, Anemia, Thrombocytopenia ORPHA:290
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Myositis, Skin rash, Elevated circulating C-reactive protein concentration, In... OMIM:615934
Bone Marrow Failure Syndrome 5
Short stature, Pure red cell aplasia, Erythroid hypoplasia, Decreased circulating antibody level,... OMIM:618165
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Hemochromatosis, Neonatal
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... OMIM:231100
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Schimke Immunoosseous Dysplasia
Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Bilateral cryptorchidism,... OMIM:242900
Zika Virus Disease
Maculopapular exanthema, Skin rash, Increased circulating IgM level, Arthritis, Conjunctivitis, V... ORPHA:448237
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis... ORPHA:171
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Microcytic anemia, Iron deficiency anemia, Hypoalbuminemia, H... ORPHA:398063
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Hemochromatosis, Type 3
Elevated hepatic transaminase, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Meckel diverticulum, Short stature, Increased circulating IgA level, Bilateral crypt... OMIM:616395
Angiostrongyliasis
Projectile vomiting, Poor appetite, Increased circulating IgA level, Abdominal pain, Hypereosinop... ORPHA:74
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia ORPHA:67048
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Osteomyelitis, Mandibular osteomyelitis, Hepatospleno... OMIM:259710
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eosinophilia, Eczema, Increased circulating IgE level, ... OMIM:618282
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Recurrent skin infections, Short stature, Decreased circulating IgA level, Dec... OMIM:617744
Felty Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Ab... ORPHA:47612
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Elevated circulating C-reactive protein concentration,... ORPHA:2902
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Hepatosplenomeg... OMIM:619644
Preeclampsia
Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Small fo... ORPHA:275555
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Abdominal pain, Lymphadenitis, Leukocyt... OMIM:260920
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Erythroderma,... OMIM:617425
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Poor appetite, Hypoalbuminemia, Hepatic steatosis, Hyper... ORPHA:247598
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia OMIM:617827
Coproporphyria, Hereditary
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... OMIM:121300
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Abdominal symptom, Elevated hepatic transaminase, H... ORPHA:400
Netherton Syndrome
Decreased circulating IgG level, Villous atrophy, Recurrent skin infections, Eczema, Allergic rhi... OMIM:256500
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Aicardi-Goutieres Syndrome 5
Feeding difficulties in infancy, Chilblains, Thrombocytopenia, Increased circulating interferon-g... OMIM:612952
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Short stature, Small for gestational age, Macronodular cirrhosis, Abnormal T cell morphology, Dec... OMIM:215250
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, Th... OMIM:613839
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Splenomegaly, Micronodular cirrhosis, Patent ductus arteriosus, Hepat... OMIM:606003
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Superficial dermal perivascular inflam... ORPHA:83617
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Cog7-Cdg
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... ORPHA:79333
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Short stature, Thrombocytopenia, Leukoc... OMIM:259720
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Letterer-Siwe Disease
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Cryptorchidism, Feeding difficulties, Thrombocytopenia, De... OMIM:616638
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Anorexia, Abdomina... ORPHA:330015
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Lymphadenopathy, Increased circulating IgM ... OMIM:608106
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Aganglionic megacolon, Malabsorption, Abnormality of the pancreas, Agammaglobulinemia, Lymphopeni... ORPHA:935
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Thr... ORPHA:263501
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Junctional Epidermolysis Bullosa Inversa
Growth delay, Anemia, Gastrointestinal inflammation ORPHA:79405
Juvenile Polyposis Of Infancy
Refractory anemia, Gastrointestinal hemorrhage, Short stature, Cachexia, Abdominal pain, High, na... ORPHA:79076
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, L... ORPHA:470
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Abdominal distention, Diarrhea, Elevated circulating creatinine c... OMIM:608104
Relapsing Fever
Elevated hepatic transaminase, Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thromboc... ORPHA:91547
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s... ORPHA:811
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Anorexi... ORPHA:33226
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Nphp3-Related Meckel-Like Syndrome
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology ORPHA:3032
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Elevated circulating C-reactive prot... ORPHA:324964
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Gas... OMIM:613385
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Sinusitis, Short stature, Elevat... OMIM:208900
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Increased circulating IgM leve... OMIM:617303
Late-Onset Junctional Epidermolysis Bullosa
Growth delay, Anemia, Gastrointestinal inflammation ORPHA:79406
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Increased circulating interleukin... ORPHA:160
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Lactose Intolerance, Adult Type
Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,... OMIM:223100
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... ORPHA:562639
Q Fever
Anorexia, Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculop... ORPHA:781
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Cirrhosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice... OMIM:214500
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Elevated circulating C-reactive protein concentration, Cervical lymphadenopathy, Recur... OMIM:617718
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Short stature, Esophageal stricture, Chronic diarrhea, Leukopenia,... OMIM:613989
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunoglobulin A Deficiency 1
Malabsorption, Recurrent infection of the gastrointestinal tract, Decreased circulating IgA level OMIM:137100
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227990
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... ORPHA:79277
Isovaleric Acidemia
Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:243500
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Small intestinal dysmotility, Aganglionic m... ORPHA:95427
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine... ORPHA:906
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent pneumonia, Anemia, Recurrent otitis media, Neutrop... OMIM:617475
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... ORPHA:2552
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Diarrhea, Chronic... OMIM:614602
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro... OMIM:267700
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Dysgammaglobulinemia, Short stature, Diarr... OMIM:251260
Self-Improving Dystrophic Epidermolysis Bullosa
Growth delay, Anemia, Gastrointestinal inflammation ORPHA:79411
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Short stature, Eosinophilia, Atopic dermatitis, Hepatosplenomega... OMIM:618999
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia... ORPHA:227982
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Rhizomelia, Cryptorchidism, Recurrent pneumonia, Fe... OMIM:607143
Propionic Acidemia
Hepatomegaly, Pancytopenia, Short stature, Eczema, Poor appetite, Feeding difficulties in infancy... OMIM:606054
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Pediatric Hepatocellular Carcinoma
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis ORPHA:33402
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... ORPHA:699
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Eosinophilia, Pancreatic cysts, A... ORPHA:284
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level OMIM:614102
Classic Mycosis Fungoides
Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly ORPHA:2584
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorex... OMIM:181000
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Short stature, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurren... OMIM:266265
Pediatric Systemic Lupus Erythematosus
Abnormality of the gastrointestinal tract, Myositis, Skin rash, Abdominal pain, Discoid lupus ras... ORPHA:93552
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Hyperhomocystinemia, Feeding difficult... OMIM:614857
Lambert Syndrome
Failure to thrive in infancy, Jaundice, Cholestasis, Decreased circulating antibody level, Intrah... ORPHA:1296
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Impaired ristocetin-induced platelet aggregation, Giant platelets, M... OMIM:231200
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Pneumonia, Abdominal pain, Recurrent skin ... ORPHA:486
Alg12-Cdg
Hyponatremia, Elevated hepatic transaminase, Intestinal malrotation, Partial absence of specific ... ORPHA:79324
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Pneumonia, Elevated circulating alpha-fetoprotein con... ORPHA:420741
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... ORPHA:723
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hepatitis, Cholestasis, Anemia, Leukopenia, Neutrop... ORPHA:292
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Trichohepatoenteric Syndrome 1
Villous atrophy, Hypoalbuminemia, Hepatic fibrosis, Intractable diarrhea, Bifid uvula, Hepatomega... OMIM:222470
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Cholesteryl Ester Storage Disease
Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esopha... ORPHA:75234
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Hepatocellular carcinoma, Abnormal erythrocyte en... ORPHA:101330
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Villous atrophy, Pericarditis, Fe... OMIM:212065
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia ORPHA:318
Myh9-Related Disease
Elevated hepatic transaminase, Increased mean platelet volume, Giant platelets, Neutrophil inclus... ORPHA:182050
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Jaundice, Hepatitis, Uveitis, An... ORPHA:319251
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Neutropenia, Pancreatitis, Thrombocytopenia OMIM:251000
Caroli Syndrome
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... ORPHA:480520
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Carcinoid Syndrome
Elevated hepatic transaminase, Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the gastrointestinal tract, Increased c... ORPHA:85443
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Vomi... ORPHA:264580
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss, Gro... ORPHA:79238
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Periodontitis, Hepatic steatosis, Hepatomegaly, Short statur... ORPHA:79259
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic... ORPHA:35858
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Elevated hepatic transaminase, Myocardial nec... OMIM:260400
Insulin-Resistance Syndrome Type B
Osteoarthritis, Increased body weight, Increased circulating IgG level, Leukopenia, Hypoalbuminem... ORPHA:2298
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Failure to thrive, Severe B lymphocytopenia, Psoriasiform dermatitis, Decreased res... ORPHA:293978
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Legionnaires Disease
Hyponatremia, Nausea and vomiting, Pericarditis, Anorexia, Abdominal pain, Splenomegaly, Jaundice... ORPHA:549
Cowden Syndrome 1
Colonic diverticula, Thyroiditis, Decreased circulating antibody level, Hydrocele testis, Ovarian... OMIM:158350
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Growth delay, Colitis, Pyoderma, Cro... OMIM:613148
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Small for gestational age, Skin rash, Short s... OMIM:277380
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Bloody diarrh... ORPHA:99826
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Neutrophilia, Small for gestational age, Severe periodontitis, Short stature, Micro... ORPHA:99843
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Short stature, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Dec... OMIM:201100
Galactosemia I
Hemolytic anemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Di... OMIM:230400
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, High palate, Bone marrow hypocellularity, Neutropenia, Failure... OMIM:614520
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Tick-Borne Encephalitis
Elevated hepatic transaminase, Elevated circulating C-reactive protein concentration, Anorexia, L... ORPHA:297
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Abnormality of the gastrointestinal tract, Membrano... ORPHA:91139
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-fetopro... ORPHA:90003
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ... ORPHA:343
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Vo... ORPHA:85450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M... ORPHA:79456
Spondyloepimetaphyseal Dysplasia, Krakow Type
Rhizomelia, Eczema, Allergic rhinitis, Feeding difficulties, Decreased circulating total IgM, Con... OMIM:618162
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia ORPHA:88
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Pelger-Huet Anomaly
Eczema, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutr... OMIM:169400
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Short stature, Feeding difficulties, Chronic constipation, Gastroesophageal reflux, Failure to th... OMIM:616577
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Lymphadenopathy, ... ORPHA:42642
Alg8-Cdg
Hyponatremia, Abnormality of the gastrointestinal tract, Elevated hepatic transaminase, Small for... ORPHA:79325
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia OMIM:613280
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Abdominal pain, Fe... OMIM:616809
Xq28 (MECP2) duplication
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Dysphagia, Failure to thr... DECIPHER:45
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, Leukopenia, Hepatic hema... ORPHA:2330
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Congenital Disorder Of Glycosylation, Type Ii
Hepatomegaly, Short stature, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High pala... OMIM:607906
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Portal hypertension, Hepatic fibrosis, Bone marrow hypocellularity, Abnormally low ... OMIM:617341
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... ORPHA:289390
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Short stature, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegal... OMIM:601847
Stuve-Wiedemann Syndrome 2
Intrauterine growth retardation, Eczema, Thrombocytopenia, Dysphagia OMIM:619751
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di... OMIM:300048
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Conjugated hyperbilirubinemia, Abdominal di... ORPHA:186
Mulibrey Nanism
Hepatomegaly, Short stature, Cachexia, Intrauterine growth retardation ORPHA:2576
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Growth delay, ... OMIM:266600
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Combined Oxidative Phosphorylation Deficiency 14
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... OMIM:614946
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Gastroparesis, Dec... ORPHA:79329
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Rhizomelia, Diarrhea, Weight loss, Severe short-limb dwarfism,... ORPHA:1842
Ficolin 3 Deficiency
Necrotizing enterocolitis OMIM:613860
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Short stature, Anemia, Bone marrow hypocellularity, Intrauterine g... ORPHA:3322
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Abdominal distention, Diarrh... ORPHA:71
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... OMIM:249100
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... ORPHA:829
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Vomiting, Neutropenia, Hypopl... OMIM:557000
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Eleva... OMIM:256040
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Acute pancreatitis, Elevated cir... ORPHA:99829
Blue Rubber Bleb Nevus
Iron deficiency anemia, Abnormality of the liver, Thrombocytopenia OMIM:112200
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatic melanin-like lysosomal pigmentation,... OMIM:208085
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Failure to thrive, Elevated circulating creatine ki... OMIM:242840
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Cleft palate, Decreased circulating antibody level ORPHA:85317
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:42
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:613327
Niemann-Pick Disease, Type A
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... OMIM:257200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Hypoalbuminemia, Obesity ORPHA:88643
Immunodeficiency 56
Failure to thrive, Cholangitis, Chronic diarrhea, Recurrent pneumonia, Bronchiectasis, Panhypogam... OMIM:615207
Pseudo-Torch Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Patent ductus arteriosus, De... OMIM:251290
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Leigh Syndrome
Hepatocellular necrosis OMIM:256000
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Failure to thrive, Aplastic anemia, Eczema, Short stature, ... OMIM:617052
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation ORPHA:1133
Recessive Dystrophic Epidermolysis Bullosa Inversa
Growth delay, Esophageal stricture, Anemia, Gastrointestinal inflammation ORPHA:79409
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Decre... ORPHA:90060
Kaposi Sarcoma
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Skin rash, Abnormality of... ORPHA:33276
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul... ORPHA:79240
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Intrauterine growth retardation, Decreased circulating antibo... OMIM:616910
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level... ORPHA:100924
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Intestinal pseudo-obstruction, Intestinal perforation, Gastrointestinal dysmotility, Hyperactive ... OMIM:603041
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Gastroesophageal reflux, Bone marrow ... OMIM:614742
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Short stature, Hepatocellular c... OMIM:232220
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Short stature, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, Rhizomelic arm shortening... ORPHA:508542
Neuronal Intestinal Pseudoobstruction
Malabsorption, Decreased circulating antibody level ORPHA:99811
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Short stature, Conjugated hyperbil... OMIM:211600
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Growth ... OMIM:248500
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Anorexia, Poor appetite, Splenomegaly, Lymphadenopathy, Weight loss, Bon... ORPHA:391
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Cryptorchidism, ... OMIM:603467
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hepatic steatosis, Hepatic necrosis OMIM:231530
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Failure to thrive in infancy, Microcytic anemia, Chronic diarrhea, Elevated circula... OMIM:618805
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Myotonic Dystrophy 2
Elevated circulating creatine kinase concentration, Oligozoospermia, Decreased circulating total ... OMIM:602668
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Diarrhea, Elevated c... OMIM:605911
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Conjugated ... OMIM:607765
Glycogen Storage Disease Ixb
Hepatomegaly, Short stature, Splenomegaly, Diarrhea, Growth delay, Hyperuricemia, Increased hepat... OMIM:261750
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia ORPHA:2582
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hepatic steatosis, Hepatocellular necrosis OMIM:201475
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Increased circulating IgE level, Secretory diarrhea, Recurrent pneumonia, Vomiting, Fail... OMIM:616069
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Renpenning Syndrome
Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic... ORPHA:3242
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Vomiting, ... ORPHA:53035
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Decreased ... OMIM:620321
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Decreased prealbumin level, Recurr... ORPHA:930
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Anal stenosis, Short stature, Cachexia, Chronic di... ORPHA:647
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Trehalase Deficiency
Diarrhea, Abdominal pain OMIM:612119
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia OMIM:611126
Acute Liver Failure
Elevated hepatic transaminase, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular necrosis, He... ORPHA:90062
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Nausea and vomiting, Hypoparathyroidism, Hype... ORPHA:199299
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Growth delay, Iron deficiency anemia... ORPHA:309031
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Thrombocytopenia, Pancytopenia, Anemia OMIM:613845
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Macroglossia, ... ORPHA:505248
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Prostatiti... ORPHA:449432
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... OMIM:274150
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia, Exocrine... OMIM:617941
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Hepatomegaly, Gastrointestinal hemorrhage, Poor appetite, Abnormal large int... ORPHA:2198
Cholestasis, Progressive Familial Intrahepatic, 3
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic ... OMIM:602347
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Short stature, Nausea, Protein avoidance, Increased circulating ferr... OMIM:222700
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Growth delay, Anemia, Gastrointestinal inflammation ORPHA:79410
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Feeding difficulties, Intrauterine growth retardation, Failure to thrive, Thrombo... OMIM:615597
Pediatric-Onset Graves Disease
Nausea and vomiting, Hepatomegaly, Episcleritis, Elevated hepatic transaminase, Keratitis, Spleno... ORPHA:525731
Stt3B-Cdg
Cryptorchidism, Feeding difficulties, Intrauterine growth retardation, Failure to thrive, Thrombo... ORPHA:370924
Aspergillosis
Sinusitis, Osteomyelitis, Eosinophilia, Pneumonia, Keratitis, Increased circulating IgE level, He... ORPHA:1163
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... ORPHA:2072
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia, Feeding difficulties, Constipation, Intrauterine growth r... OMIM:616801
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... ORPHA:66628
Hennekam Syndrome
Mild postnatal growth retardation, Malabsorption, Splenomegaly, Pyloric stenosis, Pulmonary lymph... ORPHA:2136
Rabies
Nausea and vomiting, Diarrhea, Anorexia ORPHA:770
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain OMIM:619367
Bleeding Disorder, Platelet-Type, 21
Psoriasiform dermatitis, Eczema, Increased mean platelet volume, Impaired ADP-induced platelet ag... OMIM:617443
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Growth delay, Increased circulating antibody le... ORPHA:77261
Catastrophic Antiphospholipid Syndrome
Myocarditis, Arthritis, Coombs-positive hemolytic anemia, Gastrointestinal infarctions, Microangi... ORPHA:464343
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent skin infections, Feeding difficulties, Decreased circulating antibody level, Growth del... ORPHA:79396
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Decreased circulating complement factor B concentration, Thrombocytopenia, Hyper... OMIM:235400
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Patent ductus ... OMIM:612561
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Celiac disease, Postnatal growth retardation, Increased circulating IgE le... OMIM:618985
Necrotizing Enterocolitis
Hyponatremia, Small for gestational age, Abdominal distention, Leukocytosis, Peritonitis, Diarrhe... ORPHA:391673
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Pituitary hypothyroidism, Obesity, Hypoplasia of the ovary, Decreased propo... ORPHA:179494
Maternal Uniparental Disomy Of Chromosome 4
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Short stature, Acanthoc... ORPHA:96180
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, I... OMIM:613812
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Tarp Syndrome
Extramedullary hematopoiesis, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Abnorma... ORPHA:2886
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Crimean-Congo Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Anorexia, Increased circulating IgG level, Le... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Chronic diarrhea, F... OMIM:613489
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Postinfectious Vasculitis
Elevated circulating C-reactive protein concentration, Anorexia, Gastrointestinal inflammation, U... ORPHA:48435
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Abnormality of the lymphatic system, Hepatosplenomegaly, Anemia, ... ORPHA:464329
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Hyperammonemia, Weight loss, Keratoconjunctivitis, Growth ... ORPHA:79242
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:230900
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Nasogastric tube feeding in infancy, Hig... ORPHA:369837
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... OMIM:301056
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Superficial dermal perivascular inflammatory infiltrate, Autoimmune ... ORPHA:324636
Bile Acid Synthesis Defect, Congenital, 2
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Jaundice, Intrahepa... OMIM:235555
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical ... ORPHA:50918
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema... OMIM:174900
Cinca Syndrome
Nausea and vomiting, Hepatomegaly, Abnormality of thrombocytes, Abnormality of neutrophils, Eleva... ORPHA:1451
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, J... ORPHA:79239
Acquired Purpura Fulminans
Hepatic failure, Thrombocytopenia ORPHA:49566
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Growth delay, Macroglossia, Constipation, Anemia OMIM:614450
Hyperlipoproteinemia, Type Id
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Osteopetrosis, Autosomal Recessive 3
Extramedullary hematopoiesis, Short stature, Anemia, Hepatosplenomegaly OMIM:259730
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Gastritis, Folate-unresponsive megaloblastic anemia, Abnormal erythrocyte morphology, Megaloblast... ORPHA:2575
Mcdonough Syndrome
Cryptorchidism, Short stature, Cachexia ORPHA:2471
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Anorexia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocy... ORPHA:514
Igg4-Related Pachymeningitis
Sinusitis, Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protei... ORPHA:449427
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Increased RBC distribution width, Macrothrombocytopenia, Absence of ... OMIM:187900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Aganglionic megacolon, Hypocalcemia, Cachexia ORPHA:1438
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Short stature, Cryptorchidism, Growth delay, Leukopenia, Bone marr... OMIM:613990
Sengers Syndrome
Thrombocytopenia OMIM:212350
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Lassa Fever
Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Increased circulating IgM level, Conjunc... ORPHA:99824
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Microcytic anemia, T lymphocytopenia, He... ORPHA:2959
Vitamin B12-Responsive Methylmalonic Acidemia
Nausea and vomiting, Hepatomegaly, Hyperammonemia, Failure to thrive, Anemia ORPHA:28
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Hepatic fibrosis, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Weight loss, Feeding difficulties, Aspiration ... ORPHA:141152
Adams-Oliver Syndrome
Portal hypertension, Congenital hepatic fibrosis, Leukopenia, Cirrhosis, Thrombocytopenia ORPHA:974
Overlap Myositis
Elevated hepatic transaminase, Leukopenia, Thrombocytopenia ORPHA:206572
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic... ORPHA:97280
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Prolonged neonatal jaundice, Thrombocy... OMIM:225750
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:256810
B4Galt1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Inflammatory abnormality of the skin, Small for gest... ORPHA:79332
Snakebite Envenomation
Hyponatremia, Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Hypopituitaris... ORPHA:449285
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase... ORPHA:263665
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Short stature, Elevated circulating C-reactive protein... ORPHA:355
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97283
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Patent ductus arteriosus, Thrombocytopenia OMIM:617397
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Patent ductus arteriosus, Increased size of nasopharyngeal adenoids OMIM:619769
Dubowitz Syndrome
Aplastic anemia, Eczema, Short stature, Feeding difficulties in infancy, Cryptorchidism, Velophar... OMIM:223370
Say-Barber-Miller Syndrome
Short stature, Eczema, Erythema nodosum, Cryptorchidism, Transient hypogammaglobulinemia of infan... ORPHA:3132
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Skin rash, Abdominal pain, Splenomegaly, Diarrhea, Con... ORPHA:99745
Cartilage-Hair Hypoplasia
Hepatomegaly, Aganglionic megacolon, Rhizomelia, Malabsorption, Abnormality of the pancreas, Decr... ORPHA:175
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... ORPHA:449395
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Diarrhea, Vomiting, Abnormal intestine morphology, Failure to th... OMIM:606528
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Intestinal obstruction, Fasciitis, Myositis, Pericarditis, Elevated circulating C-reactive protei... ORPHA:32960
Farber Disease
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Hepatosplenomegal... ORPHA:333
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like epi... ORPHA:20
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased liver function, Hepati... ORPHA:26791
Trehalase Deficiency
Malabsorption, Abdominal pain, Abdominal distention, Diarrhea, Vomiting ORPHA:103909
Pancreatic Colipase Deficiency
Megaloblastic anemia, Chronic diarrhea, Growth delay, Steatorrhea, Cholelithiasis, Fat malabsorpt... ORPHA:309108
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Hepatic steatosis, Thrombocytopenia, Neutropenia OMIM:616271
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Esophageal stenosis, Short stature, Abnormality of neutro... ORPHA:1775
Lujo Hemorrhagic Fever
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Elevated circulating C-reactiv... ORPHA:319213
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Peutz-Jeghers Syndrome
Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pancreatic adenocarcinoma... ORPHA:2869
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Short stature, Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation,... ORPHA:371364
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Portal hypertension, Increased T cell count, Abnorm... ORPHA:797
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Oral-pharyngeal dysphagia, Weight loss, Elevated... ORPHA:100083
Diarrhea 7, Protein-Losing Enteropathy Type
Abdominal colic, Villous atrophy, Hyperlipidemia, Diarrhea, Hypoalbuminemia, Vomiting, Protein-lo... OMIM:615863
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Anal stenosis, Aga... OMIM:250250
Poems Syndrome
Weight loss, Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Polycythemia,... ORPHA:2905
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Hepatic steatosis, Hepatic necrosis, Elevated hepatic transaminase ORPHA:71212
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Postnatal growth retardation, Hyperhomocystin... ORPHA:2169
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Dela... ORPHA:1328
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Elevated hepatic transam... ORPHA:537
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Elevated hepatic transaminase, Chronic noninfectious lymphaden... ORPHA:100075
American Trypanosomiasis
Hepatomegaly, Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pa... ORPHA:3386
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice OMIM:231680
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jaundice, Choleli... OMIM:603903
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612926
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Short stature, Cachexia, Abnormal circulating creatine concentration, Ileu... ORPHA:52503
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Diarrhea, Atopic dermatitis, Hypochromic microcytic... ORPHA:3240
Silver-Russell Syndrome
Failure to thrive in infancy, Short stature, Cachexia, Postnatal growth retardation, Cryptorchidi... ORPHA:813
Liver Failure, Infantile, Transient
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Feeding difficulties in infan... OMIM:613070
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Elevated hepatic transam... ORPHA:36426
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Short stature, Thrombocytopenia, Cryptorchidism, Reticul... OMIM:227645
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Failure to thrive in infancy, ... ORPHA:388
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Oste... OMIM:606069
Hypocomplementemic Urticarial Vasculitis
Nausea and vomiting, Hepatomegaly, Episcleritis, Skin rash, Abdominal pain, Splenomegaly, Diarrhe... ORPHA:36412
Japanese Encephalitis
Hyponatremia, Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, ... ORPHA:79139
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Acute hepatic failure, Elevate... ORPHA:131
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Ring Chromosome 21 Syndrome
Azoospermia, Short stature, Decreased circulating antibody level ORPHA:1445
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Gastroparesis, ... OMIM:619350
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Intermittent diarrhea, Intrauterine growth retardation, Obesity, Feeding difficulties OMIM:620270
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology ORPHA:1332
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Short stature, Thrombocytopenia, Cryptorchidism, Esophag... OMIM:227646
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Leukocytosis, Diarrhea, Weight loss, Pancreatitis ORPHA:188
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612925
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Thrombocytopenia, Microangiopathic hemolytic anemia, Anemia OMIM:612924
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Hepatic failure, Thrombocytopenia OMIM:608013
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil... OMIM:301068
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Short stature, Postnatal growth retardation, Anemia, Intestinal bleeding, Bone marrow hypocellula... OMIM:612199
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Intrahepatic cholestasis, Mitochondrial swelling, H... OMIM:606812
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... OMIM:277900
Netherton Syndrome
Skin rash, Eczema, Short stature, Malabsorption, Increased circulating IgE level, Decreased circu... ORPHA:634
Tetrasomy 12P
Abnormal soft palate morphology, Anal atresia, Short stature, Cachexia ORPHA:884
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:79322
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Acute Lung Injury
Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Elevated circul... ORPHA:178320
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:619183
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Hepatic steatosis, Thrombocytopenia, Elevated hepatic transaminase ORPHA:99901
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Fgfr2-Related Bent Bone Dysplasia
Extramedullary hematopoiesis, Hepatosplenomegaly ORPHA:313855
Familial Pancreatic Carcinoma
Nausea and vomiting, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-... ORPHA:1333
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T cell morpholog... ORPHA:760
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Hyperammonemia, Weight loss, Vomiting, Hyperurice... ORPHA:134
Neuropathy, Congenital Hypomyelinating, 3
High palate, Narrow palate, Gastroesophageal reflux, Cachexia OMIM:618186
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Diarrhea, Pust... ORPHA:31205
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Increased circulating interleukin 6 concentration, Pneumonia, Glom... ORPHA:340
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Large for gestational age, Cryptorchidism, Protuberant abdomen, Intestinal p... ORPHA:457485
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, I... OMIM:617056
Eosinophilic Fasciitis
Myositis, Fasciitis, Abnormal eosinophil morphology, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Feeding difficulties... OMIM:606056
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Cryptogenic Organizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Weig... ORPHA:1302
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Thrombocytopenia-Absent Radius Syndrome
Short stature, Eosinophilia, Seborrheic dermatitis, Pancreatic cysts, Leukocytosis, Cleft palate,... OMIM:274000
Congenital Factor Xiii Deficiency
Myeloid leukemia, Hepatic failure, Inflammation of the large intestine ORPHA:331
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Short stature, Rhizomelia, Feeding difficulties in infancy, Cryptor... OMIM:611209
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Cholelithiasis, Thrombocytopenia OMIM:263700
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ... ORPHA:97282
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, Bronchiectasis, Chro... OMIM:614868
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout, Inflamm... OMIM:232240
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated hepatic transaminase, Short stature, Feeding difficulties in infancy, Neutropenia, Steat... OMIM:618752
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Hypoalbuminemia, Gastroesophageal reflux, Decreased ... ORPHA:89842
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Brunner Syndrome
Diarrhea OMIM:300615
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Elevated circulating C-reactive protein... ORPHA:449563
Lathosterolosis
Hepatomegaly, Intrahepatic cholestasis, Anisopoikilocytosis, Abnormal platelet morphology, Hepati... ORPHA:46059
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Nausea and vomiting, Elevated carcinoma antigen 125 level, Elevated cir... ORPHA:370348
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Mediastinal lymphadenopathy, Abnormal proportion of CD4-posit... ORPHA:133
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th... ORPHA:2785
Trichothiodystrophy 5, Nonphotosensitive
Short stature, Chronic diarrhea, Chronic decreased circulating IgG1, Intrauterine growth retardat... OMIM:300953
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, ... OMIM:619487
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Failure to thrive, Villous atrophy, Diarrhea, Steatorrhea, Hypoalbuminemia, Hepatic... OMIM:602579
Chylomicron Retention Disease
Failure to thrive, Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocy... OMIM:246700
Wolcott-Rallison Syndrome
Hyponatremia, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Short stature, ... ORPHA:1667
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hypoalbuminemia, Hepati... ORPHA:79319
Hellp Syndrome
Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat... ORPHA:244242
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Combined Oxidative Phosphorylation Deficiency 55
Short stature, Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopen... OMIM:619743
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Liver Disease, Severe Congenital
Chronic gastritis, Biliary hyperplasia, Leukopenia, Vomiting, Hypocalcemia, Lymphocytosis, Elevat... OMIM:619991
Abcd Syndrome
Polycythemia OMIM:600501
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Braddock-Carey Syndrome 1
Anteriorly placed anus, Cleft palate, Growth delay, Thrombocytopenia OMIM:619980
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227650
19Q13.11 Microdeletion Syndrome
Supernumerary nipple, Cachexia, Cryptorchidism, Feeding difficulties, Growth delay, Intrauterine ... ORPHA:217346
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Skin rash, Megaloblastic anemia, Cleft palate, Elevated circulating palmitoley... ORPHA:79284
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Failure to thrive, Anemia OMIM:256700
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... ORPHA:293173
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Intestinal fistula, Functional intestinal obstruction, Gastrointes... ORPHA:100078
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Developmental And Epileptic Encephalopathy 50
Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Failure... OMIM:616457
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... ORPHA:70578
Mosaic Trisomy 9
Asplenia, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Diarrhea 6
Chronic diarrhea, Crohn's disease, Abdominal pain OMIM:614616
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Nausea and vomiting, Aganglionic megacolon, Abnormal hemoglobin, Short stature, Feeding difficult... ORPHA:847
Addison Disease
Hyponatremia, Normocytic anemia, Nausea and vomiting, Hypoparathyroidism, Primary testicular fail... ORPHA:85138
Citrullinemia, Type Ii, Adult-Onset
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... OMIM:603471
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Cleft soft palate, Pure red cell aplasia, Shor... ORPHA:124
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Lig4 Syndrome
Pancytopenia, Psoriasiform dermatitis, Small for gestational age, Cryptorchidism, Acute lymphobla... OMIM:606593
Gastrointestinal Stromal Tumor
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, ... ORPHA:44890
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Digeorge Syndrome
Impaired T cell function, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology... OMIM:188400
Dracunculiasis
Nausea and vomiting, Recurrent cutaneous abscess formation, Skin rash, Diarrhea, Arthritis ORPHA:231
Trichothiodystrophy
Congenital exfoliative erythroderma, Eczema, Cryptorchidism, High, narrow palate, Increased mean ... ORPHA:33364
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Short stature, Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Increased inflammatory response, Increased circulating interleukin... ORPHA:542323
Vici Syndrome
Decreased circulating IgG level, Short stature, Feeding difficulties in infancy, Feeding difficul... ORPHA:1493
Alopecia Antibody Deficiency
Short stature, Decreased circulating antibody level ORPHA:1006
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein conce... OMIM:614204
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Intestinal obstruction, Myositis, Sinusitis... ORPHA:183
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Short stature, Decreased response to growth hor... OMIM:619004
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma... OMIM:175200
22Q11.2 Deletion Syndrome
Impaired T cell function, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the t... ORPHA:567
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
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrhea, Abdominal distention, ... OMIM:620233
21Q22.11Q22.12 Microdeletion Syndrome
Failure to thrive in infancy, Short stature, Feeding difficulties in infancy, Postnatal growth re... ORPHA:261323
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Growth delay, Increased mean corpuscular volume, Esophagitis, Ne... OMIM:612562
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Dubowitz Syndrome
Hypoparathyroidism, Anal stenosis, Short stature, Eczema, Abnormality of neutrophils, Malabsorpti... ORPHA:235
Johanson-Blizzard Syndrome
Short stature, Malabsorption, Abnormality of the pancreas, Anteriorly placed anus, Anal atresia, ... ORPHA:2315
Paroxysmal Nocturnal Hemoglobinuria 2
Hemolytic anemia, Diarrhea, Abdominal pain OMIM:615399
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hematemesis, Intestinal perforation, Bloody diarrhea, Hematochezia, ... ORPHA:464321
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, P... OMIM:618398
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Chronic diarrhea, Chronic const... OMIM:619005
Maternal Uniparental Disomy Of Chromosome 6
Eczema, Cleft palate, Hydrocele testis, Intrauterine growth retardation, Congenital adrenal hyper... ORPHA:96181
Diamond-Blackfan Anemia 11
Bilateral cleft palate, Short stature, Anemia of inadequate production, Bone marrow hypocellulari... OMIM:614900
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Plague
Glossitis, Hepatomegaly, Chapped lip, Skin rash, Anorexia, Abdominal pain, Hematemesis, Splenomeg... ORPHA:707
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Postnatal growth retardation, Cryptorchidism, Diarrh... ORPHA:90321
Fanconi Anemia, Complementation Group R
Growth delay, Anal atresia, Bone marrow hypocellularity, Anemia OMIM:617244
Fanconi Anemia, Complementation Group B
Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Growth delay, Intrauterine growth... OMIM:300514
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, P... ORPHA:731
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Severe short stature, Intestinal pseudo-obstruction, Short stature, Splenomegaly, D... OMIM:309900
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Hepatomegaly, Acute hyperammonemia, Poor appetite, Reye syndrome-like episodes, Hyperglutaminemia... ORPHA:927
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Short stature, Cryptorchidism, Esophageal stricture, Anal m... OMIM:305000
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Neoplasm of the liver, De... ORPHA:77293
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia, Dysphagia ORPHA:52368
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Vomiting, Gastroesophageal r... ORPHA:206436
Rett Syndrome
Constipation, Short stature, Gastroesophageal reflux, Cachexia OMIM:312750
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Elevated hepatic transaminase, Anorexia, Abdominal pain, Jaundice, Chronic d... ORPHA:65682
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein... ORPHA:2929
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... ORPHA:75565
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Hepatic failure, Thrombocytopenia OMIM:301072
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic fibrosis, Vomiting, Hypocholest... ORPHA:14
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Chronic active hepatitis, Chronic diarrhea, R... OMIM:614379
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... ORPHA:456312
Rothmund-Thomson Syndrome Type 1
Calcinosis, Aplastic anemia, Small for gestational age, Short stature, Cryptorchidism, Diarrhea, ... ORPHA:221008
Pelizaeus-Merzbacher Disease
Cachexia, Short stature, Failure to thrive in infancy, Bowel incontinence ORPHA:702
Fusariosis
Brain abscess, Fasciitis, Lung abscess, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, ... ORPHA:228119
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Hyperglutamatemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Hyperprolinemia, Anem... OMIM:620358
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Abdominal colic, Vomiting, Diarrhea ORPHA:35122
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... ORPHA:300298
Diamond-Blackfan Anemia 21
Short stature, Erythroid hypoplasia, Chronic diarrhea, Obesity, Anemia, Thrombocytopenia OMIM:620072
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Iridoc... OMIM:240300
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent diarrhea, Recurrent asp... OMIM:619971
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Patent ductus arteriosus, Abnormal B cell morphology, Aplasia of the thymus OMIM:618223
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Secretory diarrhea, Decreased circulating ant... OMIM:618183
Fabry Disease
Abdominal pain, Diarrhea, Tenesmus, Vomiting, Delayed puberty, Nausea, Anemia OMIM:301500
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
Sucrase-Isomaltase Deficiency, Congenital
Diarrhea, Malabsorption, Abdominal pain OMIM:222900
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Severe... ORPHA:440713
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Feeding difficulties in infancy,... OMIM:277400
Livedoid Vasculopathy
Leukocytosis, Pancytopenia, Polycythemia, Anemia ORPHA:542643
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Jaundice, Hyperammonemia, Elevat... ORPHA:79282
Rothmund-Thomson Syndrome Type 2
Calcinosis, Aplastic anemia, Small for gestational age, Short stature, Cryptorchidism, Diarrhea, ... ORPHA:221016
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio... OMIM:611881
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Small for gestational age, Short stature, Malabsorption, Chronic diarrhea... OMIM:601675
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Discoid lupus rash, Cheilitis, Lymphadenopathy, Leukopenia, Ar... ORPHA:536
Diarrhea 13
Elevated hepatic transaminase, Secretory diarrhea, Hypoalbuminemia, Vomiting, Failure to thrive, ... OMIM:620357
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactiv... OMIM:612852
Combined Immunodeficiency-Enteropathy Spectrum
Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Abdominal distentio... ORPHA:436252
Ectodermal Dysplasia And Immunodeficiency 2
Hepatomegaly, Splenomegaly, Defective production of NFKB1-dependent cytokines, Chronic diarrhea, ... OMIM:612132
Listeriosis
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Vomiting, Cholecystiti... ORPHA:533
Sandhoff Disease, Juvenile Form
Diarrhea, Failure to thrive, Constipation, Dysphagia ORPHA:309162
Diarrhea 9
Diarrhea, Failure to thrive, Villous atrophy OMIM:618168
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Abdominal pain, ... ORPHA:465508
Herpes Simplex Virus Encephalitis
Hyponatremia, Nausea and vomiting, Neutrophilia, Elevated circulating C-reactive protein concentr... ORPHA:1930
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Malnutrition, Protracted diarrhea, Growth delay, Abnormal intestine morphology OMIM:251850
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Nausea and vomiting, Hypercalcemia, Anorexia, Abdominal pain, Di... ORPHA:95409
Jacobsen Syndrome
Short stature, Eczema, Intestinal malrotation, Feeding difficulties in infancy, Cryptorchidism, P... ORPHA:2308
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Hepatomegaly, Diarrhea, Dysphagia OMIM:252930
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion ORPHA:83453
Leukocyte Adhesion Deficiency, Type I
Osteomyelitis, Elevated circulating C-reactive protein concentration, Leukocytosis, Chronic diarr... OMIM:116920
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Rothmund-Thomson Syndrome
Calcinosis, Aplastic anemia, Small for gestational age, Skin rash, Short stature, Nasogastric tub... ORPHA:2909
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Abdominal ... ORPHA:103907
Cockayne Syndrome
Elevated hepatic transaminase, Hepatomegaly, Severe short stature, Cachexia, Feeding difficulties... ORPHA:191
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... OMIM:212140
Carney Triad
Nausea and vomiting, Gastrointestinal hemorrhage, Anorexia, Abdominal pain, Gastrointestinal stro... ORPHA:139411
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Elevated circulating C-... ORPHA:91500
Diamond-Blackfan Anemia 1
Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Reticulocytopenia, Cleft palate,... OMIM:105650
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, ... ORPHA:94093
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:619525
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Ab... ORPHA:103910
Paroxysmal Cold Hemoglobinuria
Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia ORPHA:90035
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Exocrine pancreatic insufficiency OMIM:609812
Cardiofacioneurodevelopmental Syndrome
Asplenia, Abdominal situs inversus OMIM:619123
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Hypoglycinemia, Short stature, Megaloblastic anemia, Hyposerinemia, Feeding difficulties, Gastroe... ORPHA:79351
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Rhizomelia, Disproportionate short-limb short stature, Neutropenia OMIM:271510
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Microvesicula... OMIM:619418
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Esophageal stricture, Malnutrition, Abnormal blood ion conc... ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Recurrent skin infections, Glomerulonephritis, Abnormal circulating selenium concentration, Anal ... ORPHA:79408
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Feeding difficulties, Increased mean corpuscular volume, High palate, Dysphagia, ... ORPHA:261250
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormality of the skin, Skin rash,... ORPHA:95455
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Intractable diarrhea, F... OMIM:613217
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Diarrhea OMIM:252920
Ivic Syndrome
Patent ductus arteriosus, Leukocytosis, Thrombocytopenia OMIM:147750
Familial Mediterranean Fever
Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Pericarditis, Skin rash, Abdo... ORPHA:342
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Esophageal stricture, Malnutrition, Growth delay, Abnormal es... OMIM:226600
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... ORPHA:100085
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Melas
Hypoparathyroidism, Intestinal pseudo-obstruction, Short stature, Gastrointestinal dysmotility, D... ORPHA:550
Anemia, Hypochromic Microcytic, With Iron Overload 1
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... OMIM:206100
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Citrullinemia Type Ii
Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyp... ORPHA:247585
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo... ORPHA:97278
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hepatomegaly, Diarrhea OMIM:252900
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Hematemesis, Giant platelets, Decreased platelet glycoprotein Ib-IX-... ORPHA:274
Diarrhea 4, Malabsorptive, Congenital
Diarrhea, Failure to thrive, Vomiting OMIM:610370
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Tyrosinemia, Type I
Hypertyrosinemia, Hepatomegaly, Acute hepatic failure, Gastrointestinal hemorrhage, Failure to th... OMIM:276700
Immunodeficiency 9
Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... OMIM:612782
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate... ORPHA:109
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Elevated circulating C-reactive protein concentration, Leukocytosis, Acu... ORPHA:36238
Combined Malonic And Methylmalonic Aciduria
Diarrhea, Failure to thrive, Vomiting OMIM:614265
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Uveitis, W... ORPHA:85408
Biotinidase Deficiency
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties i... OMIM:253260
Okur-Chung Neurodevelopmental Syndrome
Failure to thrive, Protruding tongue, Feeding difficulties, Decreased circulating antibody level,... OMIM:617062
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Feeding difficulties, Growth dela... ORPHA:541423
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ... ORPHA:329971
Holocarboxylase Synthetase Deficiency
Skin rash, Feeding difficulties in infancy, Hyperammonemia, Vomiting, Thrombocytopenia OMIM:253270
Tuberculosis
Weight loss ORPHA:3389
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Patent ductus arteriosus ORPHA:210122
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Feeding difficulties in infancy, Splenomegaly, Primary h... OMIM:239200
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Diarrhea, Abnormal blood ion concentration, Hypophosphat... ORPHA:31824
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Mitchell-Riley Syndrome
Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ... OMIM:615710
Reynolds Syndrome
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestas... OMIM:613471
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Protruding tongue, Postnatal growth retardation, Cryptorchidism, Reduced alpha/beta synthesis rat... OMIM:301040
Dopamine Beta-Hydroxylase Deficiency
Diarrhea, Elevated circulating creatinine concentration, Rhinitis, Vomiting, Increased blood urea... ORPHA:230
X-Linked Intellectual Disability, Cabezas Type
Short stature, Cachexia, Obesity, High palate, Decreased testicular size ORPHA:85293
Combined Malonic And Methylmalonic Acidemia
Dicarboxylic acidemia, Methylmalonic acidemia, Elevated hepatic transaminase, Vomiting, Intermitt... ORPHA:289504
Enteric Anendocrinosis
Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting ORPHA:83620
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Short stature ORPHA:391307
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Abdominal distention, Dependency on parenteral nutrition... OMIM:619445
Fanconi Anemia
Leukopenia, Abnormality of the liver, High palate, Short stature, Aplasia/Hypoplasia of the uvula... ORPHA:84
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Abdominal pain, Diarrhea, Hyperammonemia, Vomiting, Pancreatitis OMIM:620137
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Interstitial Lung And Liver Disease
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... OMIM:615486
Trisomy 18
Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Cleft palate, Narrow palate, Growth ... ORPHA:3380
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Duodenal atresia, Anemia, Intestinal atresia ORPHA:3405
Malt Lymphoma
Nausea and vomiting, Abdominal pain, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, C... ORPHA:52417
Rapadilino Syndrome
Short stature, High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate OMIM:266280
Noonan Syndrome 4
Cryptorchidism, Short stature, Thrombocytopenia, Large for gestational age OMIM:610733
Central Diabetes Insipidus
Hyponatremia, Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Constipation, High nonceruloplasmin-bound serum copper, Thrombocytopenia, Gastrostomy tube feedin... ORPHA:457351
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypoalbuminemia, Hypocalcemia, Vomiting, Gastroesophageal reflux, High palate, Hepatic steatosis,... OMIM:613658
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Diarrhea, High palate, Vomiting, Failure to thrive, Bifid uvula OMIM:601110
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Cervical lymphadenopat... ORPHA:2331
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... ORPHA:729
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Atelis Syndrome 2
Thrombocytopenia, Patent ductus arteriosus, Anemia OMIM:620185
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia, Dysphagia OMIM:254900
Hyperprolinemia Type 2
Abdominal pain, Diarrhea, Hyperprolinemia, Feeding difficulties, Hyperglycinemia, Dysphagia, Hype... ORPHA:79101
Gm1 Gangliosidosis
Short stature, Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Weight loss, Macroglossia,... ORPHA:354
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Elevated circulating C-reactive protein concentration, Abdominal pain, Diarrhea, Colitis, Recurre... OMIM:613960
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Abdomina... OMIM:142680
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Skin rash, Diarrhea, Vomiting, Episodic vomiting OMIM:618321
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Patent ductus arteriosus, Anemia, Absent gallbladder ORPHA:163979
Turcot Syndrome With Polyposis
Intestinal polyposis, Abdominal pain, Diarrhea, Pituitary adenoma, Adenomatous colonic polyposis,... ORPHA:99818
Short Stature, Microcephaly, And Endocrine Dysfunction
Abnormal circulating lipid concentration, Short stature, Cryptorchidism, Truncal obesity, Disprop... OMIM:616541
Congenital Short Bowel Syndrome
Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ... OMIM:615237
Hereditary Central Diabetes Insipidus
Growth delay, Diarrhea, Vomiting, Weight loss ORPHA:30925
Reni Syndrome
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Cryptorchidism OMIM:617575
Chronic Thromboembolic Pulmonary Hypertension
Osteomyelitis, Elevated circulating C-reactive protein concentration, Obesity, Inflammation of th... ORPHA:70591
Wars2-Related Combined Oxidative Phosphorylation Defect
Intrauterine growth retardation, High palate, Thrombocytopenia, Dysphagia ORPHA:572798
Osteopetrosis, Autosomal Recessive 9
Hyperparathyroidism, Postnatal growth retardation, Elevated circulating creatinine concentration,... OMIM:620366
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Nausea and vomiting, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita... ORPHA:64744
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bow... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bow... ORPHA:100082
Alg1-Cdg
Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Hypoalbu... ORPHA:79327
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Proportionate short stature, Feeding d... ORPHA:171876
Bile Acid Malabsorption, Primary, 1
Chronic diarrhea, Growth delay, Increased fecal bile acid, Steatorrhea, Fat malabsorption, Failur... OMIM:613291
Cutaneous Mastocytoma
Maculopapular exanthema, Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea ORPHA:79455
Khan-Khan-Katsanis Syndrome
Failure to thrive, Short stature, Neutropenia, Feeding difficulties, Dysphagia, Intrauterine grow... OMIM:618460
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Interstitial pneumonitis, Anemia OMIM:620296
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Decreased mitochondrial number, Elevated circulating creatine kinase concentration, Poor appetite... ORPHA:352447
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Sweeney-Cox Syndrome
Asplenia, Patent ductus arteriosus OMIM:617746
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Gastric ulcer, Decreased circulating antibody level OMIM:604928
Cocaine Intoxication
Elevated circulating creatine kinase concentration, Glomerulonephritis, Abdominal pain, Intestina... ORPHA:90068
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:255120
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration, Anemia, Seborrheic dermatitis OMIM:121270
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Patent ductus arteriosus, Increased mean platelet volume OMIM:616737
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Diaphanospondylodysostosis
Abnormal liver lobulation OMIM:608022
Cystic Fibrosis
Hepatomegaly, Meconium ileus, Diarrhea, Ileus, Rectal prolapse, Biliary cirrhosis, Bronchiectasis... OMIM:219700
Schwartz-Jampel Syndrome
Short stature, Elevated circulating creatine kinase concentration, Cachexia, Feeding difficulties... ORPHA:800
Mowat-Wilson Syndrome
Asplenia, Cleft hard palate, Gastrointestinal dysmotility, Vomiting, Bifid uvula, Short stature, ... ORPHA:2152
Myopathy, Myofibrillar, 1
Diarrhea, Constipation OMIM:601419
Malonyl-Coa Decarboxylase Deficiency
Short stature, Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting OMIM:248360
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:608836
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Bloody diarrhea, Feeding difficulties OMIM:615119
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Intestinal malrotation, Hiatus hernia, Abnormality of the spleen, Esophageal atresi... ORPHA:2538
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Severe short stature, Cachexia, Hypoalbuminemia, Failure to thrive OMIM:610965
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Diarrhea, Constipation OMIM:615548
Mucopolysaccharidosis, Type Iiid
Hepatomegaly, Short stature, Splenomegaly, Diarrhea, Macroglossia, Dysphagia, Recurrent otitis me... OMIM:252940
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Isotretinoin-Like Syndrome
Postnatal growth retardation, Cleft palate, Feeding difficulties, Gastroesophageal reflux, Hypoca... ORPHA:2306
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:913
Acquired Hypertrichosis Lanuginosa
Poor appetite, Chronic diarrhea, Weight loss, Ovarian neoplasm, Lymphadenopathy, Macroglossia, Gl... ORPHA:2221
Senior-Boichis Syndrome
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... ORPHA:84081
Satoyoshi Syndrome
Diarrhea, Short stature, Mildly elevated creatine kinase, Malabsorption OMIM:600705
Cornelia De Lange Syndrome 1
Short stature, Pneumonia, Hiatus hernia, Malrotation of colon, Cryptorchidism, Pyloric stenosis, ... OMIM:122470
Fanconi Anemia, Complementation Group L
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Feeding difficulties, Growth delay, ... OMIM:614083
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Sinusitis, Pericarditis... ORPHA:900
Congenital-Onset Steinert Myotonic Dystrophy
Abdominal pain, Encopresis, Diarrhea, Obesity, Constipation, Gastroesophageal reflux, Dysphagia, ... ORPHA:589821
Erythrokeratodermia Variabilis
Abnormal testis morphology, Skin rash, Short stature, Weight loss ORPHA:317
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Distal Renal Tubular Acidosis
Hemolytic anemia, Short stature, Poor appetite, Diarrhea, Growth delay, Hypokalemia, Vomiting, Co... ORPHA:18
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bow... ORPHA:100080
Hyaline Fibromatosis Syndrome
Diarrhea, Failure to thrive OMIM:228600
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormality of thrombocytes, Anorexia, Abdominal pain, Malabsorption... ORPHA:79430
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Gastrointestinal hemorr... ORPHA:440437
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Chronic diarrhea, Elevated circula... OMIM:619481
Camurati-Engelmann Disease
Poor appetite, Bone marrow hypocellularity, Delayed puberty, Slender build, Anemia OMIM:131300
Trichohepatoneurodevelopmental Syndrome
Hepatomegaly, Splenomegaly, Chronic diarrhea, Steatorrhea, Feeding difficulties, Macroglossia, Re... OMIM:618268
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases during infection... ORPHA:509
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... ORPHA:263455
Jacobsen Syndrome
Cryptorchidism, Pyloric stenosis, Intrauterine growth retardation, Annular pancreas, Failure to t... OMIM:147791
Chromosome 19P13.13 Deletion Syndrome
Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting OMIM:613638
Maculopapular Cutaneous Mastocytosis
Diarrhea, Vomiting, Nausea, Abdominal pain ORPHA:79457
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Fasciitis, Anorexia, Abdominal pain, Urinary bladder... ORPHA:99921
Monosomy 18Q
Short stature, Bilateral cryptorchidism, Growth delay, High palate, Failure to thrive, Slender bu... ORPHA:1600
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Short stature, Chilblains, Neonatal alloimmune thrombocy... ORPHA:51
Sponastrime Dysplasia
Small for gestational age, Rhizomelia, Recurrent pneumonia, Decreased circulating antibody level,... ORPHA:93357
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Feeding difficulties in infancy, Gastroesophageal reflux, Per... ORPHA:534
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Eosinophilia, Chronic diarrhea, Recurrent pneumonia, Chronic mucocutaneous candidiasis... OMIM:158310
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Aa Amyloidosis
Hepatomegaly, Abdominal pain, Malabsorption, Chronic diarrhea, Malnutrition, Cholestasis, Vomitin... ORPHA:85445
Intellectual Developmental Disorder, Autosomal Dominant 51
Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti... OMIM:617788
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Neoplasm of the stomach, Pancreatob... ORPHA:99889
Ogden Syndrome
Microvesicular hepatic steatosis, Iron deficiency anemia, Vomiting, Macrovesicular hepatic steato... OMIM:300855
Lynch Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Pancreatic adenocarcinoma, Gastrointestinal hemorr... ORPHA:144
Yao Syndrome
Pericarditis, Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Lissencephaly, X-Linked, 2
Feeding difficulties in infancy, Diarrhea, High palate, Decreased testicular size OMIM:300215
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Acne, Abdominal pain, Retrobulbar optic neuritis, Ly... ORPHA:117
Glucose/Galactose Malabsorption
Malabsorption, Abdominal distention, Hyperactive bowel sounds, Chronic diarrhea, Failure to thrive OMIM:606824
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... ORPHA:732
Microscopic Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Episcleritis, Sinusitis, Increased inflammatory... ORPHA:727
Vascular Hyalinosis
Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption OMIM:277175
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Weight loss, Enthesitis, Arthriti... ORPHA:29207
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia ORPHA:2058
Spontaneous Periodic Hypothermia
Nausea and vomiting, Diarrhea, Skin rash ORPHA:29822
Gitelman Syndrome
Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Delayed puberty, Hyperma... ORPHA:358
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Weight loss, Testicular teratoma ORPHA:764
Pulmonary Non-Tuberculous Mycobacterial Infection
Diarrhea, Weight loss, Bronchiectasis, Lymphadenopathy ORPHA:411703
Turner Syndrome Due To Structural X Chromosome Anomalies
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic ... ORPHA:99413
Mosaic Monosomy X
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic ... ORPHA:99228
Monosomy X
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic ... ORPHA:99226
Turner Syndrome
High, narrow palate, Gastrointestinal inflammation, Inflammation of the large intestine, Hepatic ... ORPHA:881
Viss Syndrome
Chronic gastritis, High, narrow palate, Increased circulating IgG level, Gastroesophageal reflux,... OMIM:619472
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Growth delay, Hepatic fibrosis, Cirrhosis, Increased circ... OMIM:609313
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:614921
Feingold Syndrome 1
Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia, Annular pancreas OMIM:164280
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Peritonitis, Recurrent tonsillitis, Bone ... ORPHA:2968
Noonan Syndrome 14
Cryptorchidism, Lymphopenia, Short stature, High, narrow palate OMIM:619745
Methanol Poisoning
Hyperlipidemia, Vomiting, Diarrhea, Abdominal pain ORPHA:31825
Sandhoff Disease
Hepatomegaly, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia OMIM:268800
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Patent ductus arteriosus, Abnormality of the lymphatic system, Increased mean p... ORPHA:487796
Anaplastic Thyroid Carcinoma
Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Dysphagia, Nodular goiter, Goiter ORPHA:142
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Retroperitoneal fibrosis, Weight l... ORPHA:35687
Hurler Syndrome
Hepatomegaly, Short stature, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feeding ... ORPHA:93473
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Feeding difficulties in infancy, Diarrhea, Hyperkalemia, Vomiting, Failure to thrive OMIM:264350
Huntington Disease
Abnormal circulating cholesterol concentration, Weight loss, Decreased body mass index, Oral-phar... ORPHA:399
Distal Deletion 19P
Cleft palate, Decreased circulating antibody level ORPHA:96129
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Severe short stature, Malabsorption, Chronic diarrhea,... ORPHA:2176
Neuroendocrine Neoplasm Of Appendix
Poor appetite, Anorexia, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i... ORPHA:100079
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Enterokinase Deficiency
Diarrhea, Failure to thrive, Hypoproteinemia OMIM:226200
Renal Nutcracker Syndrome
Weight loss, Nausea, Anemia, Abdominal pain ORPHA:71273
Methionine Malabsorption Syndrome
Diarrhea, Positive ferric chloride test OMIM:250900
Familial Glucocorticoid Deficiency
Hyponatremia, Anorexia, Cryptorchidism, Diarrhea, Hyperkalemia, Testicular adrenal rest tumor, Ep... ORPHA:361
Angioedema, Hereditary, 1
Intestinal edema, Abdominal pain, Diarrhea, Reduced hemolytic complement activity, Vomiting, Decr... OMIM:106100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Diarrhea, Failure to thrive, Vomiting OMIM:560000
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... ORPHA:85436
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ... ORPHA:276152
Proteus Syndrome
Thymus hyperplasia, Cachexia, Testicular neoplasm, Neoplasm of the thymus, Splenomegaly, Enlarged... ORPHA:744
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Polycythemia, Pancreatic islet cell adenoma, Pancreatic cysts ORPHA:892
Multiple Endocrine Neoplasia Type 1
Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El... ORPHA:652
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Diarrhea, Hyperkalemia, Feeding difficulties, Increased circulating renin level, Vo... OMIM:177735
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Porphyria, Acute Intermittent
Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea OMIM:176000
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Spastic Paraplegia 84, Autosomal Recessive
Crohn's disease OMIM:619621
Congenital Myopathy 20
Failure to thrive, Chronic diarrhea, High palate OMIM:620310
Isolated Succinate-Coq Reductase Deficiency
Severe short stature, Proportionate short stature, Feeding difficulties in infancy, Weight loss, ... ORPHA:3208
Adult Intestinal Botulism
Diarrhea ORPHA:178487
Acrodermatitis Enteropathica
Glossitis, Short stature, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Chei... ORPHA:37
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Short stature, Skin rash, Cachexia ORPHA:220295
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Hypercalcemia, Elevated circulating growth hormone concentration, ... OMIM:131100
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Elevated circulating C-reactive protein ... ORPHA:767
Stickler Syndrome
Short stature, Cachexia, Feeding difficulties in infancy, Osteoarthritis, Short hard palate, Uvei... ORPHA:828
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function, Allergic rhinitis, Short stature, Allergic c... OMIM:176690
Blue Diaper Syndrome
Elevated hepatic transaminase, Hypercalcemia, Diarrhea, Increased body weight, Hyperphosphatemia ORPHA:94086
Aspartylglucosaminuria
Hepatomegaly, Acne, Short stature, Diarrhea, Vacuolated lymphocytes, Macroglossia, Neutropenia, M... OMIM:208400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short stature, Short hard palate, Anorexia ORPHA:1969
Glucose-Galactose Malabsorption
Failure to thrive, Hypercalcemia, Abdominal distention, Diarrhea, Malnutrition, Hyperactive bowel... ORPHA:35710
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Patent ductus arteriosus, Biliary atresia, Abdominal situs inversus, Poly... OMIM:306955
Visceral Myopathy 1
Intestinal pseudo-obstruction, Gastroparesis, Aganglionic megacolon, Abdominal pain, Abdominal di... OMIM:155310
Cogan Syndrome
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... ORPHA:1467
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Vomiting, Hyp... ORPHA:348
Proprotein Convertase 1/3 Deficiency
Diarrhea, Malabsorption, Obesity, Villous atrophy OMIM:600955
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Elev... ORPHA:97287
Glutaric Aciduria Iii
Diarrhea, Failure to thrive, Vomiting, Goiter OMIM:231690
Mitochondrial Dna Depletion Syndrome 11
Chronic diarrhea, Elevated circulating creatine kinase concentration, Nausea OMIM:615084
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Patent ductus... OMIM:249000
Acute Intermittent Porphyria
Hyponatremia, Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudob... ORPHA:79276
Hereditary Fructose Intolerance
Hepatomegaly, Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Hypermagnesemia, Growth d... ORPHA:469
Adiposis Dolorosa
Recurrent skin infections, Diarrhea, Xerostomia, Obesity, Arthritis, Constipation ORPHA:36397
Cholestasis, Progressive Familial Intrahepatic, 6
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Chronic d... OMIM:619484
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Cryptorchidism, Pyloric stenosis, Ulcerative colitis, Cleft pala... OMIM:617137
Mucopolysaccharidosis Type 3
Hepatomegaly, Adenoiditis, Malabsorption, Splenomegaly, Recurrent tonsillitis, Macroglossia, Cons... ORPHA:581
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Cons... ORPHA:2126
Malignant Atrophic Papulosis
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal fistula, Abdominal pain, Intestinal ... ORPHA:679
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Keratitis, Esophageal neoplasm, Weight loss, Abn... ORPHA:1018
Velocardiofacial Syndrome
Hypoparathyroidism, Short stature, Impaired T cell function, Cryptorchidism, Velopharyngeal insuf... OMIM:192430
Nephroblastoma
Neoplasm of the liver, Abdominal pain, Weight loss, Lymphadenopathy ORPHA:654
Houge-Janssens Syndrome 1
Pyloric stenosis, Chronic diarrhea, Intrauterine growth retardation OMIM:616355
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pancreatic islet cell adenoma, Hypercalcemia, Neoplasm of ... ORPHA:97289
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Abdominal pain, Abdominal distention, Jaundice, Diarrh... ORPHA:677
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Vomiting, Hy... ORPHA:466650
Retinal Dystrophy And Microvillus Inclusion Disease
Chronic diarrhea, Bronchiectasis OMIM:619446
Giant Cell Arteritis
Pericarditis, Abnormality of thrombocytes, Anorexia, Abdominal pain, Mediastinal lymphadenopathy,... ORPHA:397
Isaacs Syndrome
Weight loss ORPHA:84142
Non-Functioning Paraganglioma
Weight loss, Hypercalcemia, Nausea, Episodic abdominal pain ORPHA:94080
Roberts Syndrome
Postnatal growth retardation, Cryptorchidism, Cleft palate, High palate, Severe intrauterine grow... ORPHA:3103
Seckel Syndrome
Intrauterine growth retardation, Short stature, Cachexia ORPHA:808
Complement Component 5 Deficiency
Intractable diarrhea, Decreased circulating complement C5 concentration, Reduced hemolytic comple... OMIM:609536
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Hypercalcemia, Weight loss OMIM:143880
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Feeding difficulties, Hyposerinemia, Gastroesophageal reflux, Esoph... ORPHA:79350
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis, Cleft palate, Para... ORPHA:2237
Huntington Disease-Like 2
Weight loss OMIM:606438
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Feeding difficulties in infancy, Diarrhea, Elevated circulating creatinine concentration, Growth ... OMIM:223900
Ethylmalonic Encephalopathy
Diarrhea, Failure to thrive ORPHA:51188
Mucolipidosis Type Ii
Short stature, Postnatal growth retardation, Splenomegaly, Weight loss, Hepatosplenomegaly, Protu... ORPHA:576
19P13.13 Microdeletion Syndrome
Abdominal pain, Diarrhea, Functional abnormality of the gastrointestinal tract, Feeding difficult... ORPHA:357001
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Failure to thrive in infancy, Aganglionic megacolon, High, narrow palate, Di... OMIM:162300
Intellectual Developmental Disorder, Autosomal Dominant 57
Short stature, Diarrhea, Feeding difficulties, Constipation, High palate, Otitis media, Intermitt... OMIM:618050
Erythermalgia, Primary
Keratoconjunctivitis sicca, Diarrhea, Xerostomia, Constipation OMIM:133020
Radiculoneuropathy, Fatal Neonatal
Chronic diarrhea OMIM:266250
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Small for gestational age, Decreased response to growth hormone stimulation test, Poor appetite, ... ORPHA:96182
Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:1267
Juvenile Huntington Disease
Weight loss ORPHA:248111
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Short stature, Oral-pharyngeal dysphagi... OMIM:219800
Multiple Endocrine Neoplasia Type 2
Aganglionic megacolon, Hypercalcemia, Thyroid C cell hyperplasia, Abdominal distention, Cervical ... ORPHA:653
Foodborne Botulism
Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia ORPHA:228371
Tetraamelia Syndrome 1
Asplenia OMIM:273395
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Short stature, Feeding difficulties in infancy, Overweight, Cryptorchidism, Chronic diarrhea, Chr... ORPHA:500055
Cholera
Hyponatremia, Achlorhydria, Abdominal pain, Diarrhea, Abnormal blood ion concentration, Hypokalem... ORPHA:173
Pseudoaminopterin Syndrome
Asplenia ORPHA:221120
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Abdominal pain, Orchitis, Follicular hyperplasia... ORPHA:556
Encephalopathy, Ethylmalonic
Failure to thrive, Elevated circulating butyrylcarnitine concentration, Chronic diarrhea, Feeding... OMIM:602473
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Diarrhea, Skin rash, Hepatomegaly OMIM:601979
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Abdominal distention, Ex... ORPHA:100086
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Patent ductus arteriosus, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Telangiectasia, Hereditary Hemorrhagic, Type 2
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:600376
Osteogenesis Imperfecta
Intestinal obstruction, Small for gestational age, Short stature, Rhizomelia, Osteoarthritis, Gro... ORPHA:666
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build ORPHA:558
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Gastroparesis, Failure to thrive in infancy, Proportionate short stature, Fee... ORPHA:500150
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Short stature, Hyperlipidemia, Delayed puberty, Gout... OMIM:232200
Familial Hypoaldosteronism
Hyponatremia, Nausea and vomiting, Diarrhea, Hyperkalemia, Feeding difficulties, Growth delay, In... ORPHA:427
Focal Myositis
Myositis, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Alg9-Cdg
Hepatomegaly, Villous atrophy, Rhizomelia, Diarrhea, Periportal fibrosis, Hypoplasia of the ovary... ORPHA:79328
Intestinal Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia ORPHA:178481
Middle Ear Neuroendocrine Tumor
Chronic diarrhea, Chronic noninfectious lymphadenopathy ORPHA:100084
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... OMIM:163950
Esophageal Atresia
Barrett esophagus, Small for gestational age, Failure to thrive in infancy, Intestinal malrotatio... ORPHA:1199
African Trypanosomiasis
Hepatomegaly, Pericarditis, Keratitis, Splenomegaly, Jaundice, Diarrhea, Myocarditis, Hepatosplen... ORPHA:3385
Beckwith-Wiedemann Syndrome
Hepatomegaly, Splenomegaly, Abnormal pancreas morphology, Hepatoblastoma, Polycythemia, Exocrine ... ORPHA:116
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Feeding difficulties in infancy, Gastrointestinal s... ORPHA:221
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Short stature, Dia... OMIM:241200
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Cryptorchidism, Pyloric steno... ORPHA:261537
Cushing Disease
Adrenal hyperplasia, Acne, Pituitary corticotropic cell adenoma, Leukocytosis, Increased body wei... ORPHA:96253
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Intractable diarrhea, Esophageal atresia, Congenital pyloric atresia, Elevated maternal serum alp... OMIM:226730
Alternating Hemiplegia Of Childhood
Abnormality of the gastrointestinal tract, Anorexia, Oral-pharyngeal dysphagia, Abdominal distent... ORPHA:2131
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating aspartate ... ORPHA:2388
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Abdominal pain, Jaundice, Extrahepatic cholestasis, Lymphadenop... ORPHA:99978
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Abdominal distention, Secretory diarrhea, Elevated stool chloride content, Hypochlo... OMIM:214700
Amyloidosis, Hereditary, Transthyretin-Related
Episodic vomiting, Diarrhea, Constipation OMIM:105210
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Congenital Disorder Of Glycosylation, Type Im
Inflammatory abnormality of the skin, Increased circulating free fatty acid level, Diarrhea, Vomi... OMIM:610768
Juvenile Dermatomyositis
Calcinosis, Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Elevated circulating ... ORPHA:93672
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Nocardiosis
Brain abscess, Pericarditis, Liver abscess, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Lympha... ORPHA:31204
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Postnatal growth retardation, Cryptor... ORPHA:2896
Inhalational Botulism
Nausea and vomiting, Diarrhea, Xerostomia, Constipation ORPHA:254504
Neuropathy, Hereditary Sensory And Autonomic, Type V
Osteomyelitis, Diarrhea, Osteoarthritis, Constipation, Septic arthritis OMIM:608654
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating creatine kinase ... OMIM:615356
Huntington Disease-Like 1
Weight loss ORPHA:157941
Aromatic L-Amino Acid Decarboxylase Deficiency
Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea OMIM:608643
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Hypercalcemia, Testicular neoplasm, Peptic ulcer,... ORPHA:143
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Bronchiectasis, Weight loss, Kerato... ORPHA:79128
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Abnormal small intestinal villus morphology, Villous atrophy ORPHA:2290
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Cerebrotendinous Xanthomatosis
Cholelithiasis, Abnormal circulating cholesterol concentration, Pseudobulbar paralysis, Diarrhea OMIM:213700
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Hereditary Angioedema Type 1
Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiting, Dysphagia,... ORPHA:100050
Graves Disease, Susceptibility To, 1
Goiter, Weight loss OMIM:275000
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Hematochezia, Hamartomatous polyposis, Gastrointestinal carc... OMIM:175050
Autosomal Dominant Epidermolytic Ichthyosis
Erythroderma, Poor appetite, Weight loss ORPHA:312
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Chronic diarrhea, High palate ORPHA:457279
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aganglionic megacolon, Short stature, Bowel incontinence, Asplenia, Cryptorchidism, Pyloric steno... ORPHA:261552
Telangiectasia, Hereditary Hemorrhagic, Type 1
Brain abscess, Cirrhosis, Hepatic arteriovenous malformation, Polycythemia, Anemia OMIM:187300
Erythroderma Desquamativum
Diarrhea, Failure to thrive, Seborrheic dermatitis ORPHA:314
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist... OMIM:270420
Mucopolysaccharidosis Type 2, Severe Form
Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Hepatosplenomegaly, Growth delay... ORPHA:217085
Bartter Syndrome, Type 1, Antenatal
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Small for... OMIM:601678
Young-Onset Parkinson Disease
Diarrhea, Constipation, Nausea, Gastroparesis ORPHA:2828
8P23.1 Microdeletion Syndrome
Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Intrauterine grow... ORPHA:251071
Mucopolysaccharidosis Type 2, Attenuated Form
Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Hepatosplenomegaly, Growth delay... ORPHA:217093
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Pmm2-Cdg
Elevated hepatic transaminase, Hepatic fibrosis, Abnormal liver parenchyma morphology, Impaired n... ORPHA:79318
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Intestinal pseudo-obstruction, Decreased response to growth hormon... ORPHA:273
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Hypercalcemia, Weight loss, Adrenal pheochromocytoma, Episodic abd... ORPHA:276621
Mucopolysaccharidosis Type 2
Hepatomegaly, Short stature, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Growth delay, Macr... ORPHA:580
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Diarrhea, Weight loss, Thyroid hyperplasia, Goiter ORPHA:424
Charge Syndrome
Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Postnat... OMIM:214800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Intestinal pseudo-obstruction, Gastroparesis, Weight loss, Dysphagia, Mildly elevated creatine ki... OMIM:607459
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Serotonin Syndrome
Diarrhea, Hepatic failure, Nausea ORPHA:43116
Proximal Renal Tubular Acidosis
Mild postnatal growth retardation, Short stature, Malabsorption, Diarrhea, Bicarbonaturia, Growth... ORPHA:47159
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hypokalemia, Weight loss OMIM:188580
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia, Weight loss OMIM:613239
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Short Syndrome
Severe short stature, Poor appetite, Weight loss ORPHA:3163
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Zttk Syndrome
Absent gallbladder, Short stature, Feeding difficulties in infancy, Chronic diarrhea, Submucous c... OMIM:617140
Chikungunya
Maculopapular exanthema, Skin rash, Erythema nodosum, Cervical lymphadenopathy, Diarrhea, Crustin... ORPHA:324625
Helsmoortel-Van Der Aa Syndrome
Short stature, Decreased response to growth hormone stimulation test, Cryptorchidism, High, narro... OMIM:615873
Familial Gestational Hyperthyroidism
Goiter, Diarrhea, Thyroid hyperplasia, Weight loss ORPHA:99819
Tropical Pancreatitis
Pancreatic adenocarcinoma, Nausea, Jaundice, Malnutrition, Weight loss, Chronic calcifying pancre... ORPHA:103918
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Rheumatoid Arthritis
Rheumatoid arthritis, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Perry Syndrome
Weight loss ORPHA:178509
Adrenocortical Carcinoma
Abdominal pain, Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss, Hypok... ORPHA:1501
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Hypercalcemia, Weight loss, Adrenal pheochromocytoma, Episodic abd... ORPHA:29072
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia, Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:614441
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Failure to thrive, Small for gestational age, Intestinal malrotation, Exocrine pancreatic insuffi... ORPHA:2255
Scorpion Envenomation
Acute pancreatitis, Increased circulating NT-proBNP concentration, Elevated circulating aspartate... ORPHA:466677
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Small for gestational age, Diarrhea, Feeding difficulties, Recurrent pancre... OMIM:606721
Norrie Disease
Cryptorchidism, Failure to thrive, Cachexia, Delayed puberty ORPHA:649
Goodpasture Syndrome
Weight loss, Glomerulonephritis, Anemia, Increased blood urea nitrogen OMIM:233450
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Enlarged pituitary gland, Elevated circulating growth hormone concentration,... ORPHA:91347
Osteosarcoma
Weight loss ORPHA:668
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Dysphagia ORPHA:411602
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Constipatio... ORPHA:79102
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hi... OMIM:304150
Perry Syndrome
Weight loss OMIM:168605
Congenital Fiber-Type Disproportion Myopathy
Poor appetite, Nasogastric tube feeding in infancy, Feeding difficulties, Weight loss, High palat... ORPHA:2020
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Abnormal circulating calcium concentration, Bronchiectasis, Weight loss, Increased ... ORPHA:60025
Oculopharyngodistal Myopathy 1
Weight loss, High palate, Elevated circulating creatine kinase concentration, Dysphagia OMIM:164310
Neonatal Inflammatory Skin And Bowel Disease
Chapped lip, Recurrent bacterial skin infections, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Short stature, Abnormal tongue morphology, Chronic diarrh... ORPHA:158668
Cerebrotendinous Xanthomatosis
Cholelithiasis, Chronic diarrhea, Prolonged neonatal jaundice ORPHA:909
Isolated Permanent Neonatal Diabetes Mellitus
Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Reduced p... ORPHA:99885
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Acne, Short stature, Hyperkalemia, Testicular adrenal rest tumor, Feeding difficult... ORPHA:90794
Nmda Receptor Encephalitis
Ovarian teratoma, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular teratoma ORPHA:217253
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Secretory diarrhea, Acne, Seborrheic dermatitis OMIM:167100
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Omphalocele Syndrome, Shprintzen-Goldberg Type
Feeding difficulties in infancy, Chronic diarrhea, Gastroesophageal reflux, Anal atresia ORPHA:3164
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Growth delay, Hypokalemia, Decreased... ORPHA:3337
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Delayed menarche, Ankyloglossia ORPHA:740

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 Gimap5

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 Gimap5.

No publications found that use IMPC mice or data for Gimap5.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gimap5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gimap5tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Gimap5tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Gimap5tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Gimap5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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