Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
NK2 homeobox 3
Synonyms:
Nkx2.3,  Nkx-2.3,  tinman

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Nkx2-3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Nkx2-3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Carious teeth, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequat... OMIM:612714
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D... OMIM:615513
Wolman Disease
Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Anemia, Abdominal distention, H... ORPHA:75233
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea... OMIM:617514
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He... OMIM:278000
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Reduced natural killer cell activity, Panc... OMIM:616050
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Malnutrition, Micrognathia, Narrow mouth, Hypodontia, Feeding difficul... OMIM:612776
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis ORPHA:60026
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, S... OMIM:607765
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting, Lymphadenopathy ORPHA:99977
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Malabsorption, Splenomegaly, Dysgammaglobulinemia, Anemia, L... ORPHA:100025
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino... ORPHA:2070
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l... OMIM:618987
Mantle Cell Lymphoma
Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Congenital Disorder Of Glycosylation, Type Ib
Hepatic fibrosis, Protein-losing enteropathy, Diarrhea, Hepatic failure, Vomiting, Villous atroph... OMIM:602579
Bile Acid Synthesis Defect, Congenital, 2
Intrahepatic cholestasis, Hepatic failure, Diarrhea, Splenomegaly, Hepatomegaly, Jaundice, Steato... OMIM:235555
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody... OMIM:619846
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia... OMIM:619126
Congenital Tufting Enteropathy
Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol... ORPHA:92050
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Lactose Intolerance, Adult Type
Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F... OMIM:223100
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy... OMIM:618752
Bile Acid Malabsorption, Primary, 1
Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea OMIM:613291
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Villous atrophy, Abnormal small intestin... ORPHA:95427
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ... OMIM:619510
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea OMIM:251850
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy... OMIM:267500
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co... OMIM:620282
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618261
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Malnutrition, Abnorm... ORPHA:398063
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pancyto... OMIM:614700
Laryngotracheoesophageal Cleft Type 4
Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In... ORPHA:93941
Diarrhea 7, Protein-Losing Enteropathy Type
Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy, Hyperlipidemia,... OMIM:615863
Chylomicron Retention Disease
Vomiting, Diarrhea, Malnutrition, Hypocholesterolemia, Accumulation of lipid droplets in small-bo... OMIM:246700
Congenital Short Bowel Syndrome
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... OMIM:615237
Kimura Disease
Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ... ORPHA:482
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Villous atro... OMIM:304790
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio... ORPHA:103907
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Intestinal obstruction, Rectal atresia, Duodenal atr... OMIM:243150
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ... ORPHA:277
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG level, Peritoneal eff... ORPHA:90362
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep... OMIM:613812
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti... OMIM:606367
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport... OMIM:300853
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy,... ORPHA:99976
Pancreatic Colipase Deficiency
Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia... ORPHA:309108
Immunodeficiency 48
Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation... OMIM:269840
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath... ORPHA:100024
Chylomicron Retention Disease
Vomiting, Diarrhea, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Abdominal distention,... ORPHA:71
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit... ORPHA:543
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
Diarrhea 12, With Microvillus Atrophy
Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA... OMIM:619445
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG OMIM:613495
Celiac Disease, Susceptibility To, 1
Diarrhea, Abdominal distention, Vomiting, Decreased circulating IgA level, Recurrent aphthous sto... OMIM:212750
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem... OMIM:618982
Diarrhea 5, With Tufting Enteropathy, Congenital
Intractable diarrhea, Villous atrophy, Crypt hyperplasia OMIM:613217
Infantile Systemic Hyalinosis
Aplasia/Hypoplasia of the thymus, Abnormal dental morphology, Malabsorption, Gingival overgrowth,... ORPHA:2176
Shwachman-Diamond Syndrome
Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch... ORPHA:811
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ... OMIM:300400
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level... OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Diarrhea 9
Diarrhea, Villous atrophy OMIM:618168
Congenital Disorder Of Glycosylation, Type Il
Long philtrum, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomegaly, Wide mouth OMIM:608776
Peroxisome Biogenesis Disorder 3B
Hepatomegaly, Hypocholesterolemia, Malar flattening, Steatorrhea OMIM:266510
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno... OMIM:607271
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Cholelithiasis, Diarrhea, Malabsorption, Enamel hypoplasia, Chronic active he... OMIM:240300
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Periapical bone loss, Dental malocclusion, Mandibular osteomyelitis... ORPHA:83451
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Amelogenesis Imperfecta
Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hyp... ORPHA:88661
Lysosomal Acid Lipase Deficiency
Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthelasma, Fatal liver failur... ORPHA:275761
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Decreased circulating IgA level, Chr... OMIM:613502
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ... OMIM:615401
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp... OMIM:620632
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Mhc Class Ii Deficiency 1
Cutaneous anergy, Panhypogammaglobulinemia, Protracted diarrhea, Villous atrophy, Malabsorption, ... OMIM:209920
Primary Ciliary Dyskinesia
Abnormal sperm motility, Polysplenia, Intestinal malrotation, Chronic sinusitis, Asplenia ORPHA:244
Cholesteryl Ester Storage Disease
Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy... ORPHA:75234
Coproporphyria, Hereditary
Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri... OMIM:121300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, Hepatic steatos... ORPHA:79303
Immunodeficiency 31C
Protein-losing enteropathy, Diarrhea, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, ... OMIM:614162
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni... OMIM:618986
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl... ORPHA:210122
Diarrhea 11, Malabsorptive, Congenital
Diarrhea, Villous atrophy OMIM:618662
Sweeney-Cox Syndrome
Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognathia, Me... OMIM:617746
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Hypercholanemia, Familial 1
Steatorrhea, Fat malabsorption OMIM:607748
Bile Acid Malabsorption, Primary, 2
Periportal fibrosis, Copper accumulation in liver, Prolonged neonatal jaundice, Chronic diarrhea,... OMIM:619481
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Tooth agenesis, Micrognathia, Cryptorchidism, Abnormal palate morphology, Abnormality of neuronal... ORPHA:2063
Ras-Associated Autoimmune Leukoproliferative Disorder
Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve... OMIM:614470
Gracile Bone Dysplasia
Failure to thrive, Ankyloglossia, Short stature, Asplenia, Hypoplastic spleen OMIM:602361
Desmoplastic Small Round Cell Tumor
Ileus, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular... ORPHA:83469
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Xan... ORPHA:186
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Trichohepatoenteric Syndrome 2
Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,... OMIM:614602
Trichohepatoneurodevelopmental Syndrome
Cholelithiasis, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Decreased ... OMIM:618268
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce... OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat... ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM OMIM:606445
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen ORPHA:2487
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Micrognathia, Cryptorchidism, Feeding difficulties in infanc... OMIM:619123
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Decreased circulating IgG level, Diarrhea, Vomiting, Hypocholesterolemia, Decre... OMIM:212065
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu... OMIM:613101
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ... ORPHA:2930
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic... OMIM:269200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Mulibrey Nanism
Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature ORPHA:2576
Variant Abeta2M Amyloidosis
Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Hepatic... ORPHA:314652
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Activated Pi3K-Delta Syndrome
Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym... ORPHA:397596
Shwachman-Diamond Syndrome 2
Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutrope... OMIM:617941
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Anoperineal fistula, Decreased circulating total IgG, Follicular hyperplasia, Oral ulce... OMIM:619381
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco... OMIM:615767
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm... ORPHA:2198
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Abdominal distention, Abnormal proportion of naive CD4 T cells, Impa... ORPHA:1830
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Cherubism
Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge overgrowth, Jaw swellin... OMIM:118400
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro... OMIM:616005
Renal-Hepatic-Pancreatic Dysplasia 1
Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole... OMIM:208540
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg... OMIM:603552
Cystic Fibrosis
Biliary cirrhosis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal... OMIM:219700
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, Cachexia, Weight loss OMIM:613662
Feingold Syndrome 1
Accessory spleen, Annular pancreas, Polysplenia, Micrognathia, Jejunal atresia, Tracheoesophageal... OMIM:164280
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Lip telan... OMIM:613471
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Lymphopenia, Decreased circulating... OMIM:616100
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu... OMIM:240500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Intestinal malrotation, Asplenia, High palate, Solitary median maxillary central incisor OMIM:619657
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac... ORPHA:97280
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Decreased circulating IgG level, Inflammation of the large intestine, Conical tooth, Increased ci... ORPHA:98813
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Vomiting, Diarrhea, Hepatic steatosis, Hepatomegaly,... OMIM:605911
Cernunnos-Xlf Deficiency
Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T... ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia OMIM:608898
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota... OMIM:300048
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ... OMIM:301078
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia OMIM:615558
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic a... OMIM:557000
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Immunodeficiency 70
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s... OMIM:618969
Congenital Disorder Of Glycosylation, Type Id
Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate OMIM:601110
Mosaic Trisomy 9
Intestinal malrotation, Micrognathia, Cryptorchidism, Asplenia, High palate, Cleft palate, Abnorm... ORPHA:99776
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula... OMIM:602450
Autoinflammatory Disease, Familial, Behcet-Like 3
Oral ulcer, Ileitis OMIM:618287
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an... ORPHA:440713
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa... OMIM:614034
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Polysplenia, Intestinal malrotation, Chronic sinusitis, Reduced progressive sperm motility, Duode... OMIM:619608
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly... OMIM:618495
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Immunodeficiency 87 And Autoimmunity
Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr... OMIM:619573
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Familial Adenomatous Polyposis 1
Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po... OMIM:175100
Heterotaxy, Visceral, 2, Autosomal
Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Decreased cir... OMIM:619281
Pearson Syndrome
Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Hypopl... ORPHA:699
Feingold Syndrome
Annular pancreas, Abnormality of the spleen, Micrognathia, Orofacial cleft, Esophageal atresia, D... ORPHA:1305
Immunodeficiency 27A
Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,... OMIM:209950
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Hypoplastic ... ORPHA:89844
Gardner Syndrome
Abnormality of the dentition, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla ... ORPHA:79665
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin... OMIM:618459
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog... ORPHA:733
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen OMIM:185070
Pseudomyxoma Peritonei
Inflammation of the large intestine, Intestinal obstruction, Weight loss, Lymphadenopathy, Abnorm... ORPHA:26790
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Hepatic ... ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 2
Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,... OMIM:601847
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy... OMIM:617241
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormality of the dentition, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased ci... OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level, Villous atrophy, Duodenitis, Bloody diarrhea OMIM:614328
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level, Villous atrophy, Recurrent infe... OMIM:256500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Bile Acid Synthesis Defect, Congenital, 6
Steatorrhea OMIM:617308
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Lymphopenia, Absent peri... OMIM:600802
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot... OMIM:620210
Immunodeficiency With Hyper-Igm, Type 4
Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin... OMIM:608184
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular... OMIM:601859
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen... OMIM:242700
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test, Duodenal atresia, Polysplenia OMIM:617784
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro... OMIM:603554
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ... OMIM:613493
Trichothiodystrophy 3, Photosensitive
Carious teeth, Meckel diverticulum, Natal tooth, Bilateral cryptorchidism, Lymphopenia, Increased... OMIM:616395
Syndromic Diarrhea
Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the... ORPHA:84064
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Carious teeth, Increased circulating IgE level, Lymphopenia, Aph... OMIM:620603
Trichohepatoenteric Syndrome 1
Hepatic fibrosis, Bifid uvula, Hepatic failure, Intractable diarrhea, Long philtrum, Cholestasis,... OMIM:222470
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Villous atrophy, Increased in... OMIM:619377
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe... ORPHA:436159
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Anemia, Acute myelo... OMIM:260400
Cyclic Neutropenia
Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph... ORPHA:2686
48,Xxyy Syndrome
Broad jaw, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Thick lower lip ver... ORPHA:10
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA... OMIM:618048
Mitochondrial Neurogastrointestinal Encephalomyopathy
Gastroesophageal reflux, Gastrointestinal dysmotility, Abnormality of the gastrointestinal tract,... ORPHA:298
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Lysinuric Protein Intolerance
Hepatic failure, Diarrhea, Vomiting, Hemophagocytosis, Hepatic amyloidosis, Decreased response to... ORPHA:470
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Schnitzler Syndrome
Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level ORPHA:37748
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ... OMIM:613500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Chr... ORPHA:476126
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ... OMIM:618394
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Steatorrhea, Chronic diarrhea, Duodenal ulcer, Malabsorption ORPHA:3217
Spinocerebellar Ataxia, Autosomal Recessive 20
Dental crowding, Delayed eruption of teeth, Long philtrum, Splenomegaly, Broad philtrum, Thick ve... OMIM:616354
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Oral-phar... ORPHA:100083
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys... ORPHA:199306
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ... OMIM:619752
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Esophageal carcinoma, Diarrhea, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villous atrophy, Auto... ORPHA:391487
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl... ORPHA:2585
Immunodeficiency 32A
Granuloma, Lymphadenitis, Lymphadenopathy OMIM:614893
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... ORPHA:449432
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom... ORPHA:331206
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatosplenomegaly, Pa... ORPHA:98850
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Retrognat... OMIM:265380
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade... OMIM:603909
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl... OMIM:619707
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant... ORPHA:507
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Proprotein Convertase 1/3 Deficiency
Diarrhea, Decreased circulating cortisol level, Villous atrophy, Malabsorption OMIM:600955
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Cachexia, Anemi... OMIM:175500
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Splenogonadal Fusion With Limb Defects And Micrognathia
Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth OMIM:183300
Zimmermann-Laband Syndrome
Bifid uvula, Anterior open-bite malocclusion, Micrognathia, Splenomegaly, Supernumerary tooth, Hy... ORPHA:3473
Cog7-Cdg
Diarrhea, Retrognathia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Hepatomegaly, Jaundice, F... ORPHA:79333
Dyskeratosis Congenita
Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Esophageal stenosis, Hypoplasia of the max... ORPHA:1775
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Leukocyte Adhesion Deficiency, Type Iii
Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S... OMIM:612840
Homozygous 11P15-P14 Deletion Syndrome
Abnormal intestine morphology, Diarrhea, Feeding difficulties in infancy, Vomiting OMIM:606528
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Cleft upper lip, Intesti... OMIM:249000
Galactose Epimerase Deficiency
Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Jejunal Atresia
Jejunal atresia OMIM:243600
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Macroglossia, Constipation, Delayed eruption of teeth OMIM:614450
Hennekam Syndrome
Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Lymphop... ORPHA:2136
Pitt-Hopkins Syndrome
Tooth malposition, Gastroesophageal reflux, Failure of eruption of permanent teeth, Supernumerary... ORPHA:2896
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Abetalipoproteinemia
Hepatic fibrosis, Vomiting, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Reticulocytos... ORPHA:14
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227990
Immunodeficiency 69
Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo... OMIM:618963
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath... OMIM:615122
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt... OMIM:615415
Congenital Disorder Of Glycosylation, Type Ih
Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Long philtrum, Cholesta... OMIM:608104
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif... OMIM:618108
Lactase Deficiency, Congenital
Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level OMIM:223000
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia OMIM:616744
Congenital Syphilis
Diarrhea, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Malabsorp... ORPHA:499009
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ... OMIM:166750
Otodental Syndrome
Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo... ORPHA:2791
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt... OMIM:612692
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b... ORPHA:2025
Mucopolysaccharidosis, Type Ii
Diarrhea, Intestinal pseudo-obstruction, Delayed eruption of teeth, Thick lower lip vermilion, Wi... OMIM:309900
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:609981
Kaposi Sarcoma
Diarrhea, Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnor... ORPHA:33276
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Stromme Syndrome
Accessory spleen, Intestinal malrotation, Micrognathia, Jejunal atresia, Stillbirth, Wide mouth, ... OMIM:243605
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Abdominal di... ORPHA:309031
American Trypanosomiasis
Diarrhea, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly, Abdomina... ORPHA:3386
Microvillus Inclusion Disease
Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology ORPHA:2290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating IgG level, Diarrhea, Retrognathia, Decreased circulating IgA level, B lymph... OMIM:614069
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Short Stature-Wormian Bones-Dextrocardia Syndrome
Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Cryptorchidism, A... ORPHA:2863
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Abnorma... ORPHA:79456
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, M... OMIM:235255
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,... OMIM:616263
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na... ORPHA:276
Melioidosis
Brain abscess, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen, Splenic absces... ORPHA:31202
Intestinal Dysmotility Syndrome
Diarrhea, Decreased intestinal transit time, Projectile vomiting, Broad philtrum, Abdominal diste... OMIM:620045
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Dental crowding, Persistence of hemoglobin F, Persistence of primary tee... OMIM:619769
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Enlargement of pa... ORPHA:50918
Pancreatic Agenesis 2
Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia OMIM:615935
Whim Syndrome
Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m... ORPHA:51636
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi... OMIM:301081
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple... ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Abnormal cortical gyration, Decreased specific anti-polysacc... OMIM:614576
Tetraamelia Syndrome 1
Cleft upper lip, Micrognathia, Adrenal gland agenesis, Asplenia, Anal atresia, Cleft palate OMIM:273395
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia OMIM:601457
Failure Of Tooth Eruption, Primary
Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth OMIM:125350
Alg6-Cdg
Protein-losing enteropathy, Macroglossia, Abnormality of the liver, Jaundice, Feeding difficulties ORPHA:79320
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Oculogastrointestinal Muscular Dystrophy
Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g... ORPHA:1876
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension... ORPHA:824
Small Bowel Atresia
Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Inte... ORPHA:1201
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal... OMIM:619079
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg... OMIM:618935
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal... OMIM:167800
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Oral ulcer, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Stom... OMIM:308230
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt... ORPHA:2325
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat... OMIM:618342
Smith-Magenis Syndrome
Gastroesophageal reflux, Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, D... ORPHA:819
Angioedema, Hereditary, 8
Abdominal pain, Diarrhea, Episodic vomiting, Swollen lip OMIM:619367
Gigantiform Cementoma, Familial
Tooth malposition, Cementoma, Multiple impacted teeth OMIM:137575
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Hepatitis, Lymphopenia, Hepatosplenomegaly, Increased circulatin... ORPHA:169160
Elsahy-Waters Syndrome
Bifid uvula, Anal stenosis, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of t... OMIM:211380
Pseudoaminopterin Syndrome
Micrognathia, Cryptorchidism, Microdontia, Short philtrum, Nasogastric tube feeding in infancy, O... ORPHA:221120
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Acha... OMIM:617053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA... OMIM:102700
Oculoskeletodental Syndrome
Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Oligodontia, Hepatomegaly, Macroglossia OMIM:618440
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... ORPHA:319487
Renpenning Syndrome
High, narrow palate, Severe short stature, Decreased testicular size, Cachexia, Anal atresia, Gro... ORPHA:3242
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane... OMIM:615285
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the l... ORPHA:85443
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan... OMIM:619858
Marbach-Rustad Progeroid Syndrome
Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo... OMIM:619322
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Ciliary Dyskinesia, Primary, 1
Absent frontal sinuses, Asplenia, Chronic sinusitis OMIM:244400
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten... ORPHA:2978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Co... ORPHA:97290
Feingold Syndrome 2
Short stature, Postnatal growth retardation, Intestinal atresia OMIM:614326
Gapo Syndrome
High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Breast hypoplasi... OMIM:230740
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... ORPHA:54251
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Aphthous ulcer, Int... OMIM:266600
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom... ORPHA:98849
Folate Malabsorption, Hereditary
Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Oral ulcer, Feeding ... OMIM:229050
Autosomal Dominant Severe Congenital Neutropenia
Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent i... ORPHA:486
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Gastrointestinal infarctions, Portal hypertension, Cholecystitis, In... ORPHA:131
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Absent natural killer cells, Lack of T cell function, Lymphopeni... ORPHA:35078
Immunodeficiency 25
Increased circulating IgE level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Down Syndrome
Narrow mouth, Protruding tongue, Acute megakaryocytic leukemia, Chronic constipation, Open mouth,... ORPHA:870
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel... OMIM:181000
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Idiopathic Achalasia
Gastroesophageal reflux, Dysphagia, Weight loss ORPHA:930
Heterotaxy, Visceral, 5, Autosomal
Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at... OMIM:270100
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Cystic Fibrosis
Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Abnormality of the li... ORPHA:586
Alexander Disease Type I
Cachexia, Dysphagia, Failure to thrive ORPHA:363717
Mpi-Cdg
Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Vomiting, Diarrhea, De... ORPHA:79319
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, H... ORPHA:1655
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Trichodentoosseous Syndrome
Taurodontia, Microdontia, Widely spaced teeth OMIM:190320
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal... OMIM:311300
Aredyld Syndrome
Intrauterine growth retardation, Splenomegaly, Cachexia, Hepatomegaly, Short stature ORPHA:1133
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft... OMIM:618761
Immunodeficiency 10
Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly... OMIM:612783
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k... ORPHA:79124
Meckel Syndrome
Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Cryptorchidism... ORPHA:564
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... OMIM:615710
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ... OMIM:620430
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia ORPHA:1144
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha... OMIM:147060
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Intrauterine growth retardation, Cachexia ORPHA:1438
Eiken Syndrome
Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet... OMIM:600002
5-Oxoprolinase Deficiency
Diarrhea, Abdominal pain, Vomiting, Enterocolitis OMIM:260005
Familial Pancreatic Carcinoma
Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic... ORPHA:1333
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Osteoglosphonic Dysplasia
Multiple unerupted teeth, Micrognathia, Cryptorchidism, Tooth agenesis ORPHA:2645
Classic Hodgkin Lymphoma
Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:391
Hemifacial Atrophy, Progressive
Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami OMIM:141300
Isolated Agammaglobulinemia
Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Abnormality of the lymphatic system, Abn... ORPHA:229717
Sézary Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep... ORPHA:3162
Sapho Syndrome
Inflammation of the large intestine, Craniofacial osteosclerosis, Malabsorption, Steatorrhea, Abd... ORPHA:793
Pleural Mesothelioma
Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy ORPHA:50251
Tooth Agenesis, Selective, 9
Taurodontia, Selective tooth agenesis, Microdontia OMIM:617275
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Ovarian neoplasm, Poor appetite ORPHA:2221
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Polysplenia, Posteriorly placed anus, Biliary atresia, Hepatomegaly, As... OMIM:306955
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Typhoid
Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Constipation, Hepatomegaly, Abdominal pain ORPHA:99745
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Tetrasomy 12P
Short stature, Abnormal soft palate morphology, Anal atresia, Cachexia ORPHA:884
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ... ORPHA:424019
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Intestinal atresia, Duodenal atresia ORPHA:3405
Cheilitis Glandularis
Abnormal salivary gland morphology, Thick lower lip vermilion ORPHA:1221
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsorption, Micr... OMIM:242860
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile du... ORPHA:79302
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Anemia, Abnormality of neu... ORPHA:33355
Immunodeficiency 11B With Atopic Dermatitis
Increased circulating IgE level, Colonic eosinophilia, Eosinophilia, Decreased circulating total ... OMIM:617638
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Protein-losing enteropathy, Narrow palate, Delayed eruption of teeth, Retrognathia, Intestinal ly... OMIM:235510
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Ackerman Syndrome
Taurodontia, Broad philtrum OMIM:200970
Tooth Agenesis, Selective, X-Linked, 1
Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ... OMIM:313500
48,Xxxy Syndrome
Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Decreased testicula... ORPHA:96263
Good Syndrome
Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Dysphagia, Th... ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iij
Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepa... OMIM:613489
Tooth Agenesis, Selective, 7
Taurodontia, Agenesis of permanent teeth OMIM:616724
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention OMIM:616868
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, Chronic constipation, Feeding difficul... OMIM:618825
Cranioectodermal Dysplasia 4
Taurodontia, Bone marrow hypocellularity, Smooth philtrum, Thin vermilion border OMIM:614378
Tularemia
Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph... ORPHA:3392
Graft Versus Host Disease
Diarrhea, Vomiting, Hemophagocytosis, Hepatosplenomegaly, Recurrent gastroenteritis, Oral ulcer, ... ORPHA:39812
Snijders Blok-Campeau Syndrome
Widely spaced teeth, Taurodontia, Enamel hypoplasia, High palate, Feeding difficulties OMIM:618205
Christianson Syndrome
Cachexia, Gastroesophageal reflux, Dysphagia ORPHA:85278
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Trisomy 9P
Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth ORPHA:236
Dyskeratosis Congenita, Autosomal Dominant 2
Bone marrow hypocellularity, Hepatic fibrosis, Abnormality of the dentition, Aplastic anemia, Ora... OMIM:613989
Congenital Toxoplasmosis
Diarrhea, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice ORPHA:858
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia OMIM:607115
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the subman... ORPHA:79078
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia ORPHA:217390
49,Xxxxy Syndrome
Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Decreased testicula... ORPHA:96264
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig... ORPHA:83313
Benign Schwannoma
Abnormal esophagus morphology, Abnormality of the liver, Intestinal polyposis, Abnormal parotid g... ORPHA:252164
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Diarrhea, Panhypogammaglobulinemia, Lack of T cell function, Protracted d... ORPHA:572
Immunodeficiency 40
Focal active colitis, Eosinophilic granuloma, Intermittent diarrhea, Chronic diarrhea, Reduced an... OMIM:616433
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor... OMIM:619705
Hirschsprung Disease
Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po... ORPHA:388
Johanson-Blizzard Syndrome
Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Exocrine pancrea... ORPHA:2315
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Oculofaciocardiodental Syndrome
Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest... ORPHA:2712
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Esophageal stricture OMIM:616029
Immunodeficiency 15B
Agammaglobulinemia, Reduced natural killer cell count, Decreased circulating antibody level, Mono... OMIM:615592
Axial Mesodermal Dysplasia Spectrum
Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the liver, Anorectal anomaly, ... ORPHA:1834
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Abnormal salivary gland morphology ORPHA:3225
Selective Igm Deficiency
Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport... ORPHA:331235
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Ch... OMIM:615607
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, B lymphocytopenia, Pachygyria, T lymphocytopenia, Simpli... OMIM:615966
Pediatric Systemic Lupus Erythematosus
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Abnor... ORPHA:93552
Igg4-Related Ophthalmic Disease
Colon cancer, Increased circulating IgE level, Increased circulating IgG4 level, Abnormality of t... ORPHA:449563
Mucopolysaccharidosis, Type Iiic
Diarrhea, Splenomegaly, Everted lower lip vermilion, Hepatomegaly, Dysphagia OMIM:252930
Cog4-Cdg
Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Fatal liver failure in inf... ORPHA:263501
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Malnutrition, Intermittent diarrhea, Mandibular prognathia, Feeding diff... OMIM:619971
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath... ORPHA:100026
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Immunodeficiency 9
Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous... OMIM:612782
Shigellosis
Hepatic failure, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Bl... ORPHA:810
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Chylous Ascites
Abnormal intestine morphology, Pancreatitis ORPHA:1160
Alg9-Cdg
Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Long philtrum, Mic... ORPHA:79328
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hepatitis, Failure to thrive in infancy, Ileus, Autoimmune hemolytic anemia, Recurrent gastroente... ORPHA:37042
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Cranioectodermal Dysplasia
Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo... ORPHA:1515
Majeed Syndrome
Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem... ORPHA:77297
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Cholestasis, Hepatic steatosis, Splenomega... ORPHA:264580
Hereditary Folate Malabsorption
Cheilitis, Gastroesophageal reflux, Diarrhea, Pancytopenia, Nausea and vomiting, Eosinophilia, Me... ORPHA:90045
X-Linked Creatine Transporter Deficiency
Short stature, Aganglionic megacolon, Cachexia, Ileus ORPHA:52503
Immune Dysregulation, Autoimmunity, And Autoinflammation
Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia OMIM:620514
Vascular Hyalinosis
Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption OMIM:277175
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Micrognathia... ORPHA:2575
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Adenocarcinoma of the ... ORPHA:100079
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Familial Mediterranean Fever
Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, L... ORPHA:342
Visceral Myopathy 2