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
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Sp... OMIM:612714
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Weight loss, Dysphagia, Obesity,... ORPHA:70482
Wolman Disease
Hepatomegaly, Abdominal distention, Steatorrhea, Splenomegaly, Hepatic failure, Esophageal varix,... ORPHA:75233
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 105
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... OMIM:619924
Immunodeficiency 76
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy OMIM:619164
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Hepatic bridging fibrosis, Esopha... OMIM:278000
Pulmonary Nodular Lymphoid Hyperplasia
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis ORPHA:60026
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Splenomegaly, Episodic vomiting, Reduced natural killer cell activity, Feeding dif... OMIM:616050
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Hypoglossia With Situs Inversus
High palate, Narrow mouth, Hypodontia, Micrognathia, Feeding difficulties in infancy, Malnutritio... OMIM:612776
Immunodeficiency 104
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly OMIM:608971
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Abnormality of ... ORPHA:2070
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Mantle Cell Lymphoma
Weight loss, Lymphadenopathy, Abnormality of the gastrointestinal tract, Splenomegaly ORPHA:52416
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Diarrh... OMIM:607765
Immunodeficiency 31C
Lymphopenia, Diarrhea, Villous atrophy, Autoimmune hemolytic anemia, Abnormal intestine morphology OMIM:614162
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy, Esophageal carcinoma ORPHA:99977
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 32A
Lymphadenopathy OMIM:614893
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Abnormality of the small intestine, Dy... ORPHA:100025
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Steatorrhea, Splenomegaly, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Jau... OMIM:235555
Lactose Intolerance, Adult Type
Abdominal pain, Diarrhea, Flatulence, Lactose intolerance, Decreased small intestinal mucosa lact... OMIM:223100
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Steatorrhea, Splenomegaly, Cirrhosis, Hepatic failure, Diarrhea, Hepatitis, Intrahe... OMIM:613812
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Diarrhea, Vomiting, Villous atrophy, Prote... OMIM:602579
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Bile Acid Malabsorption, Primary, 1
Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea OMIM:613291
Congenital Tufting Enteropathy
Anal atresia, Malabsorption, Elevated fecal osmolality, Abnormal large intestinal mucosa morpholo... ORPHA:92050
Secondary Short Bowel Syndrome
Malabsorption, Constipation, Enterocolitis, Intestinal atresia, Steatorrhea, Small intestinal dys... ORPHA:95427
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... ORPHA:444463
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... OMIM:617514
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Protracted diarrhea, Malnutrition, Abnormal intestine morphology OMIM:251850
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Lymphopenia, Absence of lymph node germinal center, B lymphocytopenia, T... ORPHA:277
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Tube feeding, Lymphopenia, Decreased circulating IgG level, Decr... OMIM:619510
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice OMIM:312500
Refractory Celiac Disease
Malabsorption, Abdominal pain, Increased proportion of HLA DR+ T cells, Normocytic anemia, Macroc... ORPHA:398063
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Diarrhea, Vomiting, Villous atrophy, Protein-losing enteropathy, Hypercholesterol... OMIM:615863
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... OMIM:618261
Laryngotracheoesophageal Cleft Type 4
Intestinal atresia, Tracheoesophageal fistula, Cachexia, Abnormality of the spleen, Abnormality o... ORPHA:93941
Congenital Short Bowel Syndrome
Abdominal distention, Intestinal atresia, Steatorrhea, Intestinal malrotation, Projectile vomitin... OMIM:615237
Kimura Disease
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:482
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Splenomegaly, Decrease... OMIM:614700
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Neutropenia, Steatorrhea OMIM:618752
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Bloody diarrhea, Colonic atresia, Jejunal atresia, Lymphopenia, Enterocolitis, Inte... OMIM:243150
Sweeney-Cox Syndrome
High palate, Anal atresia, Narrow mouth, Gastroesophageal reflux, Cleft palate, Micrognathia, Sho... OMIM:617746
Kerion Celsi
Lymphadenopathy, Recurrent cutaneous abscess formation ORPHA:499
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased specific anti-polysaccharide antibody level, Decreased circulating IgA level, Enlarged ... OMIM:606367
Chylomicron Retention Disease
Abdominal distention, Steatorrhea, Diarrhea, Vomiting, Acanthocytosis, Hypocholesterolemia, Incre... ORPHA:71
Peroxisome Biogenesis Disorder 3B
Hypocholesterolemia, Hepatomegaly, Malar flattening, Steatorrhea OMIM:266510
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Diarrhea, Enamel hyp... OMIM:240300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytope... OMIM:304790
Infantile Systemic Hyalinosis
Malabsorption, Gingival overgrowth, Feeding difficulties, Steatorrhea, Abnormality of the gastroi... ORPHA:2176
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:607594
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... OMIM:300853
Pancreatic Colipase Deficiency
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency, Steatorrhea, Fat malabso... ORPHA:309108
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Anemia, ... ORPHA:100024
Trichohepatoneurodevelopmental Syndrome
High palate, Cholelithiasis, Decreased liver function, Gastroesophageal reflux, Hepatomegaly, Mac... OMIM:618268
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... ORPHA:543
Diarrhea 12, With Microvillus Atrophy
Microvillar PAS-positive secretory granules, Abdominal distention, Vomiting, Villous atrophy, Dep... OMIM:619445
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Folate Malabsorption, Hereditary
Malabsorption, Leukopenia, Diarrhea, Feeding difficulties in infancy, Oral ulcer, Neutropenia, Th... OMIM:229050
Shwachman-Diamond Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Aplastic anemia, Delayed eruption o... ORPHA:811
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Feeding difficulties in infancy... ORPHA:99976
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgA level, Defective T cell proliferation,... OMIM:618534
Diarrhea 9
Villous atrophy, Diarrhea OMIM:618168
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD8-pos... OMIM:619824
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Chylomicron Retention Disease
Steatorrhea, Diarrhea, Vomiting, Hypocholesterolemia, Malnutrition OMIM:246700
Celiac Disease, Susceptibility To, 1
Decreased circulating IgA level, Abdominal distention, Abdominal pain, Steatorrhea, Diarrhea, Vom... OMIM:212750
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Intractable diarrhea OMIM:613217
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia, Short stature ORPHA:3204
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Hypoplasia of the... OMIM:300400
Cronkhite-Canada Syndrome
Malabsorption, Hepatomegaly, Stomach cancer, Splenomegaly, Cachexia, Furrowed tongue, Intestinal ... ORPHA:2930
Feingold Syndrome 1
High palate, Annular pancreas, Duodenal atresia, Everted lower lip vermilion, Tracheoesophageal f... OMIM:164280
Bare Lymphocyte Syndrome, Type Ii
Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogammaglobulinemia, Vil... OMIM:209920
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... OMIM:619220
Lysosomal Acid Lipase Deficiency
Steatorrhea, Hepatic failure, Diarrhea, Vomiting, Esophageal varix, Jaundice, Feeding difficultie... ORPHA:275761
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Cholesteryl Ester Storage Disease
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Diarrhea, Hypertriglyceridemia, Esophagea... ORPHA:75234
Asplenia, Isolated Congenital
Thrombocytosis, Asplenia, Howell-Jolly bodies OMIM:271400
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased circula... OMIM:607271
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... ORPHA:83451
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Anal atresia, Narrow palate, Tooth agenesis, Cryptorchidism, Micrognathia, Abnormality of neurona... ORPHA:2063
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:613502
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, ... OMIM:619802
Pancreatic Lipase Deficiency
Fat malabsorption, Steatorrhea OMIM:614338
Primary Ciliary Dyskinesia
Intestinal malrotation, Chronic sinusitis, Polysplenia, Abnormal sperm motility, Asplenia ORPHA:244
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatomegaly, Steatorrhea, Extramedullary hematopoiesis, Hepatic failure, C... ORPHA:79303
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Malabsorption, Cachexia, Intestinal pseudo-obstruction, Weight loss, Gastrointesti... OMIM:613662
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Diarrhea 11, Malabsorptive, Congenital
Villous atrophy, Diarrhea OMIM:618662
Hypercholanemia, Familial 1
Fat malabsorption, Steatorrhea OMIM:607748
Bile Acid Malabsorption, Primary, 2
Prolonged neonatal jaundice, Periportal fibrosis, Chronic diarrhea, Steatorrhea OMIM:619481
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Pfapa Syndrome
Malabsorption, Hepatomegaly, Abnormal oral cavity morphology, Abdominal pain, Splenomegaly, Nause... ORPHA:42642
Reticular Dysgenesis
Malabsorption, Leukopenia, Diarrhea, Abnormality of neutrophils, Decreased circulating antibody l... ORPHA:33355
Coproporphyria, Hereditary
Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Increased fecal cop... OMIM:121300
Immunodeficiency 7
Lymphadenopathy, Hypereosinophilia OMIM:615387
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Decreased circulating IgG level, Partial absence of specific antibody r... OMIM:618986
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Anal atresia, Intestinal malrotation, Tracheoesophageal fistula, Volvulus, Abse... ORPHA:210122
Variant Abeta2M Amyloidosis
Abnormality of the tongue, Hepatic amyloidosis, Abnormal salivary gland morphology, Gastrointesti... ORPHA:314652
Trichohepatoenteric Syndrome 2
Bloody diarrhea, Colitis, Hepatomegaly, Cirrhosis, Chronic hepatitis, Diarrhea, Villous atrophy, ... OMIM:614602
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Iron defic... OMIM:269200
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Gracile Bone Dysplasia
Failure to thrive, Short stature, Hypoplastic spleen, Ankyloglossia, Asplenia OMIM:602361
Isolated Agammaglobulinemia
Malabsorption, Sinusitis, Diarrhea, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... OMIM:614470
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Bloody diarrhea, Leukocytosis, Ulcerative colitis OMIM:619398
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Lymphopenia, Lymphocytosis, Increased circulating IgA level... ORPHA:169154
Immunodeficiency 36
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... OMIM:616005
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Cachexia, Mediastinal lymphadeno... ORPHA:83469
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen ORPHA:2487
Mulibrey Nanism
Cachexia, Hepatomegaly, Intrauterine growth retardation, Short stature ORPHA:2576
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Steatorrhea, Diar... OMIM:212065
Shwachman-Diamond Syndrome 2
High palate, Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hyperechogenic pancrea... OMIM:617941
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy OMIM:618852
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Cardiofacioneurodevelopmental Syndrome
Cleft palate, Micrognathia, Abdominal situs inversus, Feeding difficulties in infancy, Cleft lip,... OMIM:619123
Microgastria-Limb Reduction Defects Association
Gastroesophageal reflux, Intestinal malrotation, Splenogonadal fusion, Polymicrogyria, Biliary tr... OMIM:156810
Glucagonoma
Hepatomegaly, Constipation, Steatorrhea, Diarrhea, Increased circulating prolactin concentration,... ORPHA:97280
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Decreased proportion of naive T cells, Colitis,... OMIM:619381
Schimke Immuno-Osseous Dysplasia
Hyperlipidemia, Pancreatitis, Hypodontia, Lymphopenia, Abdominal distention, Anemia, Impaired T c... ORPHA:1830
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Splenomegaly, Intestinal malrotation, Pancreatic fibrosis, Cirrhosis, Hyperechogeni... OMIM:208540
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Hepatomegaly, Lymphopenia, Decreased circulatin... OMIM:616100
Hypobetalipoproteinemia, Familial, 1
Hypertriglyceridemia, Hypocholesterolemia, Acanthocytosis, Steatorrhea OMIM:615558
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Hepatomegaly, Abnormal esophagus physiology, Dyspha... ORPHA:2198
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Malabsorption, Exocrine pancreatic insufficiency, Hepatomegaly, Neutropenia, ... OMIM:557000
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morpho... ORPHA:98850
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice, Ly... OMIM:603552
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Impaired Ig cl... OMIM:605258
Cherubism
Alveolar ridge overgrowth, Dental malocclusion, Narrow palate, Submandibular lymph node enlargeme... OMIM:118400
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Duodenal atresia, Reduced progressive sperm motility, Intestinal malrotation, Chronic sinusitis, ... OMIM:619608
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Decreased circulating IgG level, Hemophagocytosis, Splenomegaly, B lymphocytopenia,... OMIM:301078
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Somatostatinoma
Hepatomegaly, Constipation, Steatorrhea, Neoplasm of the small intestine, Diarrhea, Increased cir... ORPHA:97283
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activity, Anemia OMIM:608898
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Solitary median maxillary central incisor, Intestinal malrotation, Asplenia OMIM:619657
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy ORPHA:66661
Immunodeficiency, Common Variable, 11
Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammation of the large inte... OMIM:615767
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low T cell receptor ex... OMIM:602450
Congenital Disorder Of Glycosylation, Type Id
High palate, Diarrhea, Vomiting, Bifid uvula, Villous atrophy OMIM:601110
Netherton Syndrome
Decreased circulating IgG level, Intestinal atresia, Villous atrophy, Hypereosinophilia, Abnormal... OMIM:256500
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:86893
Macrocephaly/Autism Syndrome
Decreased circulating antibody level, Lymphopenia, Hepatomegaly, Splenomegaly OMIM:605309
Mosaic Trisomy 9
High palate, Cleft palate, Intestinal malrotation, Micrognathia, Abnormal liver lobulation, Crypt... ORPHA:99776
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Abdominal distention, Intestinal malrotation, Increased size of the mandible, Vomiting, Pyloric s... OMIM:300048
Cystic Fibrosis
Ileus, Exocrine pancreatic insufficiency, Pancreatitis, Hepatomegaly, Steatorrhea, Meconium ileus... OMIM:219700
Reynolds Syndrome
Hepatomegaly, Steatorrhea, Splenomegaly, Lip telangiectasia, Gastrointestinal hemorrhage, Jaundic... OMIM:613471
Mucocutaneous Ulceration, Chronic
Ileitis, Oral ulcer OMIM:618287
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Heme Oxygenase 1 Deficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Cervical lymphadenopathy, Hemolytic anemia, Throm... OMIM:614034
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Cholestasis, Hypochromic microcytic anemia, Hepatitis, Po... ORPHA:440713
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, L... OMIM:615285
Feingold Syndrome
Annular pancreas, Duodenal atresia, Micrognathia, Abnormality of the spleen, Oral cleft, Esophage... ORPHA:1305
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... OMIM:608106
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Panhypoga... OMIM:600802
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... OMIM:615559
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... ORPHA:699
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Bile Acid Synthesis Defect, Congenital, 6
Steatorrhea OMIM:617308
Trehalase Deficiency
Malabsorption, Abdominal distention, Abdominal pain, Diarrhea, Vomiting ORPHA:103909
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abdominal pain, Splenomegaly, Hepatic failure, Cirr... ORPHA:567983
Lissencephaly Syndrome, Norman-Roberts Type
Microretrognathia, Feeding difficulties, 4-layered lissencephaly, Abnormality of neuronal migrati... ORPHA:89844
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Eruption failure, Supernumerary tooth, Multiple gastric polyps, He... OMIM:175100
Gardner Syndrome
Neoplasm of the pancreas, Adenomatous colonic polyposis, Supernumerary tooth, Multiple gastric po... ORPHA:79665
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreas... OMIM:618495
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Short stature, Cholestasis, Jaundice ORPHA:172
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Diarrhea, Intrahepatic cholestas... OMIM:601847
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Abnormality of the dentition, O... ORPHA:733
Majeed Syndrome
Failure to thrive, Malabsorption, Hepatomegaly, Leukocytosis, Congenital hypoplastic anemia, Sple... ORPHA:77297
Pancreatic Agenesis 2
Pancreatic hypoplasia, Steatorrhea OMIM:615935
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, In... OMIM:209950
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Cholestasis, Jaundice, Fee... OMIM:619573
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Abnormal... OMIM:615952
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Decreased circulating I... OMIM:308240
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abnormality of the peritoneum, Intestinal obstruction, Weigh... ORPHA:26790
Autoimmune Lymphoproliferative Syndrome
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:601859
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Aga... OMIM:613500
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cholestasis, Hepatic fibrosis, Stillbirth, Asplenia OMIM:615415
Mitochondrial Neurogastrointestinal Encephalomyopathy
Atrophic muscularis propria, Gastroesophageal reflux, Small intestinal dysmotility, Cirrhosis, Ca... ORPHA:298
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... OMIM:619375
Inflammatory Skin And Bowel Disease, Neonatal, 1
Duodenitis, Villous atrophy, Increased circulating IgE level, Bloody diarrhea OMIM:614328
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgA level, Abnormal circulating IgM level, Increased circulating IgG level,... OMIM:618048
Syndromic Diarrhea
Bloody diarrhea, Colitis, Gastritis, Hepatoblastoma, Hepatomegaly, Splenomegaly, Lymphopenia, Cir... ORPHA:84064
Shwachman-Diamond Syndrome 1
Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Steatorrhea, Persistence of hemoglo... OMIM:260400
Trichohepatoenteric Syndrome 1
Wide mouth, Narrow mouth, Intractable diarrhea, Hepatomegaly, Splenomegaly, Hepatic failure, Cirr... OMIM:222470
Chronic Diarrhea Due To Glucoamylase Deficiency
Dyspepsia, Malabsorption, Abdominal distention, Abdominal pain, Vomiting, Nausea, Abnormal small ... ORPHA:103907
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo... OMIM:600351
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Cyclic Neutropenia
Periodontitis, Sinusitis, Lymphopenia, Enterocolitis, Abdominal pain, Recurrent tonsillitis, Cerv... ORPHA:2686
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Feeding difficulties, Eclabion, Carious teeth, Pylo... OMIM:616395
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Narrow mouth, Malar flattening, Steatorrhea, Short philtrum, Decreased testicular size, Neutropen... OMIM:601347
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Abnormally low T cell receptor excision circle level, Hepatos... OMIM:242700
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Malabsorption, Duodenal ulcer, Chronic diarrhea, Steatorrhea ORPHA:3217
Cholestasis, Progressive Familial Intrahepatic, 3
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Intrahepatic cholestasis, Bile du... OMIM:602347
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Abdominal pain, Episodic vomiting, Ileoileal intussusception, C... OMIM:619377
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Sinusitis, Decreased circulating IgA level, Macroglossia, Malar flattening, Microg... OMIM:242860
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Immunodeficiency 102
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Hepatomega... OMIM:301082
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Cachexia, Xerostomia, Hematochezia, Glossitis, Protein-losing enteropathy, Anemia,... OMIM:175500
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Increased circulating IgM level, Anemia, Lymphadenopathy ORPHA:37748
48,Xxyy Syndrome
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Delayed eruption of ... ORPHA:10
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells, Decreased proportion of C... OMIM:617241
Hodgkin Lymphoma
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:98293
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Par... OMIM:240500
Fanconi Anemia, Complementation Group W
Duodenal atresia, Polysplenia, Decreased response to growth hormone stimulation test OMIM:617784
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Splen... OMIM:618394
Lysinuric Protein Intolerance
Increased circulating antibody level, Hepatomegaly, Pancreatitis, Decreased response to growth ho... ORPHA:470
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Weight loss, Adrenocorticotropic hormone excess, Oral-phar... ORPHA:100083
Follicular Lymphoma
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:545
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Proprotein Convertase 1/3 Deficiency
Villous atrophy, Malabsorption, Diarrhea, Decreased circulating cortisol level OMIM:600955
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
High palate, Eruption failure, Poor suck, Abnormality of the dentition, Micrognathia, Long philtr... ORPHA:476126
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Anal atresia, Duodenal atresia, Meckel diverticulum, Cleft palate, Intestinal m... OMIM:265380
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Enterocolitis, Hepatosplenomeg... ORPHA:391487
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Cutaneous abscess, Decreased circulating IgA level, Lymphopenia, Persistence of prim... OMIM:619752
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Decreased circ... ORPHA:331206
Cholestasis, Progressive Familial Intrahepatic, 1
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Fat malabsorption, Jaundice, Int... OMIM:211600
Multicentric Reticulohistiocytosis
Histiocytosis, Cachexia ORPHA:139436
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Eosinophilia, X... ORPHA:449432
Oculogastrointestinal Muscular Dystrophy
Malabsorption, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the gastrointestinal ... ORPHA:1876
Stormorken Syndrome
Short stature, Anemia, Thrombocytopenia, Asplenia, Howell-Jolly bodies OMIM:185070
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Cardiospondylocarpofacial Syndrome
High, narrow palate, Failure of eruption of permanent teeth, Tooth malposition ORPHA:3238
Combined Immunodeficiency Due To Zap70 Deficiency
Colitis, Recurrent infection of the gastrointestinal tract, Lymphocytosis, Abnormality of the lym... ORPHA:911
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Panhypogammaglobulinemia, B lymphocytopenia, T lymphocytopenia OMIM:601457
Cog7-Cdg
Narrow mouth, Hepatomegaly, Feeding difficulties, Retrognathia, Micrognathia, Hepatosplenomegaly,... ORPHA:79333
Dyskeratosis Congenita
Hepatomegaly, Hepatic failure, Tracheoesophageal fistula, Abnormality of the dentition, Carious t... ORPHA:1775
Lymphoproliferative Syndrome 1
Hepatomegaly, Decreased circulating IgG level, Splenomegaly, Leukopenia, Autoimmune thrombocytope... OMIM:613011
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... ORPHA:209964
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... ORPHA:98848
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Leukopenia, Abnormal macrophage... ORPHA:507
Splenogonadal Fusion With Limb Defects And Micrognathia
Micrognathia, Crowded maxillary incisors, Stillbirth, Multiple unerupted teeth OMIM:183300
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Homozygous 11P15-P14 Deletion Syndrome
Feeding difficulties in infancy, Abnormal intestine morphology, Diarrhea, Vomiting OMIM:606528
Hennekam Syndrome
Malabsorption, Tooth agenesis, Gingival overgrowth, Narrow mouth, Supernumerary tooth, Splenomega... ORPHA:2136
Hypothyroidism, Congenital, Nongoitrous, 6
Anemia, Constipation, Delayed eruption of teeth, Macroglossia OMIM:614450
Meckel Syndrome, Type 1
Cleft upper lip, Anal atresia, Wide mouth, Cleft palate, Splenomegaly, Intestinal malrotation, Mi... OMIM:249000
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Hypodontia, Macroglossia, Cleft palate, Splenomegal... ORPHA:3473
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of the lymph ... OMIM:612840
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Micrognathia, Anterior hypopituitarism, Delayed erupti... ORPHA:2863
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Abdominal pain, Peritonitis, Diarrhea, Intestinal ... ORPHA:343
Immunodeficiency 57 With Autoinflammation
Gastritis, Diarrhea, B lymphocytopenia, Inflammation of the large intestine, T lymphocytopenia, D... OMIM:618108
Neuronal Intestinal Pseudoobstruction
Malabsorption, Decreased circulating antibody level, Natal tooth ORPHA:99811
Congenital Bile Acid Synthesis Defect Type 1
Failure to thrive, Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormalit... ORPHA:79301
Jejunal Atresia
Jejunal atresia OMIM:243600
Lactase Deficiency, Congenital
Diarrhea, Decreased small intestinal mucosa lactase level, Lactose intolerance OMIM:223000
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Steatorrhea, Pancreatic fibrosis, Hepatic fibrosis, Thin upper lip vermilion, Hepat... OMIM:616263
Tetraamelia Syndrome 1
Cleft upper lip, Anal atresia, Cleft palate, Micrognathia, Asplenia, Adrenal gland agenesis OMIM:273395
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Eruption failure, Maxillozygomatic hypoplasia, Alveolar process hypoplasia, Multiple non-erupting... OMIM:273050
Abetalipoproteinemia
Hepatomegaly, Steatorrhea, Anemia, Cirrhosis, Vomiting, Acanthocytosis, Hypocholesterolemia, Hepa... ORPHA:14
Kaposi Sarcoma
Diarrhea, Abnormality of the gastrointestinal tract, Abnormality of the spleen, Generalized lymph... ORPHA:33276
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Lymphoproliferative Syndrome 2
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Decreased circ... OMIM:615122
Fibromatosis, Gingival, With Distinctive Facies
High palate, Persistence of primary teeth, Everted lower lip vermilion, Gingival fibromatosis, Ir... OMIM:228560
Sucrase-Isomaltase Deficiency, Congenital
Malabsorption, Diarrhea, Abdominal pain OMIM:222900
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Growth delay, Weight loss, Jaundice ORPHA:79238
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Ileal ulcer, Hemolytic anemia, Oral ulcer, Thrombocytopenia OMIM:616744
Autoimmune Polyendocrinopathy Type 4
Thymoma, Leukopenia, Atrophic gastritis, Xerostomia, Autoimmune thrombocytopenia, Macrocytic anem... ORPHA:227990
Pancreatic Triacylglycerol Lipase Deficiency
Exocrine pancreatic insufficiency, Colitis, Abdominal distention, Abdominal pain, Steatorrhea, Di... ORPHA:309031
Microvillus Inclusion Disease
Villous atrophy, Diarrhea, Abdominal distention, Abnormality of small intestinal villus morphology ORPHA:2290
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Multiple Intestinal Atresia
Gastrointestinal atresia, Duodenal stenosis ORPHA:2300
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Abnormality of canine, Abn... ORPHA:2791
Pitt-Hopkins Syndrome
Abnormal palate morphology, Wide mouth, Gastroesophageal reflux, Hiatus hernia, Supernumerary nip... ORPHA:2896
Gingival Fibromatosis-Facial Dysmorphism Syndrome
High palate, Gingival overgrowth, Everted lower lip vermilion, Delayed eruption of teeth, Gingiva... ORPHA:2025
Otodental Dysplasia
Taurodontia, Agenesis of premolar, Long philtrum, Delayed eruption of teeth, Pulp calcification, ... OMIM:166750
Stromme Syndrome
Wide mouth, Duodenal atresia, Cleft palate, Intestinal malrotation, Micrognathia, Accessory splee... OMIM:243605
Budd-Chiari Syndrome
Malabsorption, Hepatomegaly, Splenomegaly, Cirrhosis, Peritonitis, Cholecystitis, Intestinal obst... ORPHA:131
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Abdominal distention, Anemia, Diarrhea, Long philtrum, Vo... OMIM:608104
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
American Trypanosomiasis
Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Achalasia, Lymphadenopathy, Aganglionic meg... ORPHA:3386
Immunodeficiency 69
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocytosis, Pancytopenia, Anemia OMIM:618963
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Lymphopenia, Abnormal circulati... OMIM:616636
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... OMIM:301081
Gapo Syndrome
Eruption failure, Hepatomegaly, High, narrow palate, Abnormality of the dentition, Micrognathia, ... OMIM:230740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Lymphocytosis, Abdominal pain, Myeloproliferative disorder, Diarrhea, Abnormality o... ORPHA:79456
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Intestinal Dysmotility Syndrome
High palate, Abdominal distention, Feeding difficulties, Projectile vomiting, Diarrhea, Decreased... OMIM:620045
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
High palate, Alveolar ridge overgrowth, Hepatomegaly, Abdominal distention, Cleft palate, Splenom... OMIM:235255
Immunodeficiency 54
Lymphadenopathy, Reduced natural killer cell count, Hepatomegaly, Splenomegaly OMIM:609981
Melioidosis
Splenic abscess, Abnormality of the spleen, Brain abscess, Liver abscess, Hepatitis, Lung abscess... ORPHA:31202
Kikuchi-Fujimoto Disease
Hepatomegaly, Lymphocytosis, Abnormality of the lymph nodes, Cervical lymphadenopathy, Splenomega... ORPHA:50918
Whim Syndrome
Sinusitis, Lymphopenia, Lymphadenitis, Severe periodontitis, Abnormality of the small intestine, ... ORPHA:51636
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Hepatosplenomegaly, Lymphadeni... OMIM:618935
Classic Mycosis Fungoides
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:2584
X-Linked Agammaglobulinemia
Malabsorption, Sinusitis, Glossoptosis, Abnormality of the lymphatic system, Abnormality of the t... ORPHA:47
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Decreased circulating IgA level, Lymphopenia, Hepatomegaly... ORPHA:276
Pancreatitis, Hereditary
Exocrine pancreatic insufficiency, Pancreatitis, Abdominal pain, Steatorrhea, Pancreatic pseudocy... OMIM:167800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating IgA level, Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, ... OMIM:102700
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Hepatomegaly, Splenomegaly, Retrognathia, ... OMIM:614576
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Macroglossia, Splenomegaly, Hepatosplenomegaly, Diarrhea, Delayed eruption of teeth... OMIM:309900
Autoimmune Polyendocrinopathy Type 3
Thymoma, Leukopenia, Xerostomia, Autoimmune hypoparathyroidism, Atrophic gastritis, Autoimmune th... ORPHA:227982
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Lymphopenia, Decreased circulating IgG level, Decreased cir... ORPHA:169160
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly, Decrea... ORPHA:35078
Failure Of Tooth Eruption, Primary
Persistence of primary teeth, Hypodontia, Failure of eruption of permanent teeth OMIM:125350
Angioedema, Hereditary, 8
Diarrhea, Episodic vomiting, Abdominal pain, Swollen lip OMIM:619367
Sapho Syndrome
Malabsorption, Abdominal pain, Steatorrhea, Inflammation of the large intestine, Craniofacial ost... ORPHA:793
Autosomal Agammaglobulinemia
High palate, Malabsorption, Sinusitis, Diarrhea, Hepatitis, Neutropenia, Agammaglobulinemia ORPHA:33110
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Supernumerary tooth, Malar flattening, Impacted tooth, Long phi... OMIM:211380
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Renpenning Syndrome
Anal atresia, Severe short stature, High, narrow palate, Cleft palate, Cachexia, Decreased testic... ORPHA:3242
Atresia Of Small Intestine
Failure to thrive, Short stature, Intestinal malrotation, Intestinal hypoplasia, Jejunal atresia,... ORPHA:1201
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Diarrhea, Hepatomegaly OMIM:261750
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Gastroesophageal reflux, Hiatus hernia, Persistence of primary teeth, Feeding difficulties, Persi... OMIM:619769
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... ORPHA:319487
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Thymic Aplasia
Decreased proportion of naive T cells, Malabsorption, Sinusitis, Recurrent infection of the gastr... ORPHA:83471
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Tooth agenesis, Short philtrum, Delayed eruption of teeth, Mandibular prognathia, Anemia, Abnorma... ORPHA:2325
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
High palate, Dental crowding, Overjet, Persistence of primary teeth, Hypodontia, Hepatomegaly, Ev... OMIM:618342
Alg6-Cdg
Feeding difficulties, Macroglossia, Protein-losing enteropathy, Jaundice, Abnormality of the liver ORPHA:79320
Gigantiform Cementoma, Familial
Multiple impacted teeth, Cementoma, Tooth malposition OMIM:137575
Inflammatory Bowel Disease (Crohn Disease) 30
Bloody diarrhea, Ileitis, Gastritis, Abdominal pain, Pancolitis, Vomiting, Protein-losing enterop... OMIM:619079
Pseudoaminopterin Syndrome
High palate, Poor suck, Micrognathia, Short philtrum, Microdontia, Oral cleft, Nasogastric tube f... ORPHA:221120
Waldenström Macroglobulinemia
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Diarrhea, Normocytic anemia, Gingival bleedi... ORPHA:33226
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormality of the lymph nodes, Chronic noninfectious lymphadenopathy, Colon cancer, Nodular goit... ORPHA:97290
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Enteric Anendocrinosis
Malabsorption, Cholestatic liver disease, Diarrhea, Vomiting, Portal hypertension ORPHA:83620
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Duodenal atresia, Aplasia of the thymus ORPHA:3004
Oculoskeletodental Syndrome
Hepatomegaly, Macroglossia, Splenomegaly, Oligodontia, Protein-losing enteropathy, Cryptorchidism OMIM:618440
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Johanson-Blizzard Syndrome
Anal atresia, Malabsorption, Exocrine pancreatic insufficiency, Abnormality of the dentition, Oli... ORPHA:2315
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hemophagocytosis, Intestinal inflammation, Hepatosplenomegaly, Hepatic... OMIM:619858
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Abnormality of the lymph nodes, Brain abscess, Abnormality of the lymphatic system,... ORPHA:54251
Griscelli Syndrome Type 2
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Lymphadenopathy, Jaundice ORPHA:79477
Primary Myelofibrosis
Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... ORPHA:824
Feingold Syndrome 2
Postnatal growth retardation, Intestinal atresia, Short stature OMIM:614326
Disorder Of Bile Acid Synthesis
Abnormality of the liver, Fat malabsorption, Cholestasis, Biliary tract abnormality ORPHA:79168
Al Amyloidosis
Increased circulating antibody level, Hepatomegaly, Abdominal distention, Macroglossia, Xerostomi... ORPHA:85443
Ciliary Dyskinesia, Primary, 1
Chronic sinusitis, Absent frontal sinuses, Asplenia OMIM:244400
Smith-Magenis Syndrome
Cleft upper lip, Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Micrognathia, ... ORPHA:819
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Anemia, Leukopenia, Esophageal stricture, Hypoplastic splee... OMIM:617053
Familial Pancreatic Carcinoma
Neoplasm of the liver, Exocrine pancreatic insufficiency, Jaundice, Extrahepatic cholestasis, Abd... ORPHA:1333
Tetrasomy 12P
Cachexia, Anal atresia, Abnormal soft palate morphology, Short stature ORPHA:884
Fish-Eye Disease
Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:79292
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Immunodeficiency 25
Increased circulating IgA level, Eosinophilia, Increased circulating IgG level, T lymphocytopenia... OMIM:610163
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Aphthous ulcer, I... OMIM:266600
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis, Abnormal platelet morpho... ORPHA:2978
Mpi-Cdg
Decreased liver function, Hepatomegaly, Diarrhea, Vomiting, Hepatic fibrosis, Protein-losing ente... ORPHA:79319
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased liver function, Gastroesophageal reflux, Hepatomegaly, Abdominal pain, Abnor... ORPHA:85450
Whipple Disease
Malabsorption, Hepatomegaly, Splenomegaly, Cachexia, Mediastinal lymphadenopathy, Gastrointestina... ORPHA:3452
Alpha-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... ORPHA:846
Autosomal Dominant Severe Congenital Neutropenia
Premature loss of teeth, Periodontitis, Recurrent infection of the gastrointestinal tract, Lympho... ORPHA:486
Sarcoidosis, Susceptibility To, 1
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Mediastinal lymphaden... OMIM:181000
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Diarrhea, Neutropenia OMIM:613501
Otopalatodigital Syndrome, Type I
Narrow mouth, Malar flattening, Cleft palate, Multiple impacted teeth, Absent frontal sinuses, Se... OMIM:311300
Trichodentoosseous Syndrome
Widely spaced teeth, Taurodontia, Microdontia OMIM:190320
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Cleft palate, Pancreatic fibrosis, Micrognathia, Accessory sple... ORPHA:564
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Hepatosplenomegaly, Absence of lymph node germinal center, T lymphocytopenia, Pancy... ORPHA:79124
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
High palate, Persistence of primary teeth, Eosinophilia, Cutaneous abscess, Increased circulating... OMIM:147060
Hemifacial Atrophy, Progressive
Dental malocclusion, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy OMIM:141300
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Lig4 Syndrome
Malabsorption, Hepatomegaly, Leukocytosis, Thin vermilion border, Micrognathia, Pancytopenia, Cry... ORPHA:99812
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Macroglossia, Glossitis, Chronic diarrhea, Lymphadenopathy, Poor appetite ORPHA:2221
Cold Agglutinin Disease
Hemolytic anemia, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:56425
Spinocerebellar Ataxia 48
Dysphagia, Cachexia OMIM:618093
Catifa Syndrome
Tooth malposition, Cleft palate, Long philtrum, Delayed eruption of teeth, Cleft lip, Increased o... OMIM:618761
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Short stature ORPHA:1144
Aredyld Syndrome
Hepatomegaly, Short stature, Splenomegaly, Cachexia, Intrauterine growth retardation ORPHA:1133
Lowry-Maclean Syndrome
Delayed eruption of teeth, Cleft palate OMIM:600252
5-Oxoprolinase Deficiency
Vomiting, Diarrhea, Enterocolitis, Abdominal pain OMIM:260005
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... OMIM:613489
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Cholestasis, Fat malabsorption, Bile duct prolife... ORPHA:79302
Amelogenesis Imperfecta, Type Ia
Taurodontia, Amelogenesis imperfecta, Generalized microdontia OMIM:104530
Ring Chromosome 10 Syndrome
Cachexia, Intrauterine growth retardation, Aganglionic megacolon ORPHA:1438
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Mitchell-Riley Syndrome
Annular pancreas, Malabsorption, Duodenal atresia, Intestinal malrotation, Biliary atresia, Diarr... OMIM:615710
Osteoglosphonic Dysplasia
Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted teeth ORPHA:2645
Rutherfurd Syndrome
Delayed eruption of primary teeth, Failure of eruption of permanent teeth OMIM:180900
X-Linked Non-Syndromic Intellectual Disability
Long philtrum, Delayed eruption of teeth, Pyloric stenosis, Thin upper lip vermilion, Meckel dive... ORPHA:777
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Lympha... ORPHA:3162
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Micrognathia, Delayed eruption of teeth OMIM:613849
Eiken Syndrome
Eruption failure, Persistence of primary teeth, Short philtrum, Oligodontia, Multiple unerupted t... OMIM:600002
Marbach-Rustad Progeroid Syndrome
Eruption failure, Narrow mouth, Hypodontia, Micrognathia, Poor appetite, Delayed eruption of prim... OMIM:619322
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Meckel diverticulum OMIM:300864
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Anal canal squamous cell carcinoma, Intestinal ble... ORPHA:424019
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Vomiting, Iron deficiency anemia, Intestin... OMIM:226300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
High palate, Alveolar ridge overgrowth, Hepatomegaly, Abdominal distention, Splenomegaly, Hepatic... ORPHA:1655
Typhoid
Hepatomegaly, Constipation, Abdominal pain, Splenomegaly, Diarrhea, Gastrointestinal hemorrhage ORPHA:99745
Granulomatous Slack Skin
Abnormality of the lymph nodes ORPHA:33111
Cheilitis Glandularis
Thick lower lip vermilion, Abnormal salivary gland morphology ORPHA:1221
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Neonatal cholestatic liver ... OMIM:214900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Anemia, Duodenal atresia, Intestinal atresia ORPHA:3405
Idiopathic Achalasia
Dysphagia, Weight loss, Gastroesophageal reflux ORPHA:930
Impacted Teeth, Multiple
Multiple impacted teeth, Supernumerary tooth OMIM:308280
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... OMIM:619767
Bile Acid Synthesis Defect, Congenital, 4
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Intrahepatic cholestasis, Fat malabsorptio... OMIM:214950
Combined Immunodeficiency Due To Dock8 Deficiency
Increased circulating IgE level, B lymphocytopenia, T lymphocytopenia ORPHA:217390
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Sinusitis, Anemia, Diarrhea, Mediastinal lymphadenopathy,... ORPHA:169105
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... OMIM:619705
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Secretory diarrhea, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Thrombocytopenia ORPHA:158029
Moynahan Syndrome
Cachexia, Short stature ORPHA:2574
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count,... ORPHA:3226
Ackerman Syndrome
Broad philtrum, Taurodontia OMIM:200970
Immunodeficiency By Defective Expression Of Mhc Class Ii
Lack of T cell function, Sinusitis, Neutropenia, Recurrent infection of the gastrointestinal trac... ORPHA:572
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Conical incisor, Gingival overgrowth, Narrow palate, Narrow mouth, Malar flattening, Thyroid lymp... OMIM:235510
Tooth Agenesis, Selective, 7
Agenesis of permanent teeth, Taurodontia OMIM:616724
48,Xxxy Syndrome
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Delayed eruption of ... ORPHA:96263
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of molar, Agenesis of later... OMIM:313500
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:391
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Diarrhea, Abnormal erythrocyte e... ORPHA:370
Salivary Gland Adenoma, Pleomorphic
Salivary gland neoplasm OMIM:181030
Igg4-Related Ophthalmic Disease
Sinusitis, Sialadenitis, Orchitis, Pancreatitis, Eosinophilia, Increased circulating IgG4 level, ... ORPHA:449563
Trisomy 9P
Downturned corners of mouth, Impacted tooth, Dental crowding, Non-midline cleft lip ORPHA:236
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
High palate, Wide mouth, Long philtrum, Delayed eruption of teeth, Feeding difficulties in infanc... OMIM:618825
Oculofaciocardiodental Syndrome
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... ORPHA:2712
Cinca Syndrome
Leukocytosis, Eosinophilia, Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:607115
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Pleural Mesothelioma
Dysphagia, Weight loss, Lymphadenopathy, Hepatomegaly ORPHA:50251
Christianson Syndrome
Dysphagia, Cachexia, Gastroesophageal reflux ORPHA:85278
Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair
Oligodontia, Taurodontia OMIM:272980
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Abnormal salivary gland morphology, Thrombocytopenia... ORPHA:79078
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Intestinal malrotation, Abdominal situs inversus, Abdominal situs ambiguus, Asp... OMIM:270100
Familial Mediterranean Fever
Malabsorption, Orchitis, Pancreatitis, Constipation, Splenomegaly, Abdominal pain, Acute hepatic ... ORPHA:342
Graft Versus Host Disease
Recurrent gastroenteritis, Acute hepatitis, Hemophagocytosis, Abdominal pain, Hepatosplenomegaly,... ORPHA:39812
Cranioectodermal Dysplasia 4
Bone marrow hypocellularity, Taurodontia, Smooth philtrum, Thin vermilion border OMIM:614378
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Abnormality of the dentition, Anisocytosis, Diarrhea, Malar pr... ORPHA:231226
49,Xxxxy Syndrome
Taurodontia, Gastroesophageal reflux, Constipation, Cleft palate, Open bite, Delayed eruption of ... ORPHA:96264
Congenital Toxoplasmosis
Hepatomegaly, Diarrhea, Thrombocytopenia, Anemia, Lymphadenopathy, Jaundice ORPHA:858
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Feeding difficulties, Retrognathia, Micrognathia, Poor suck, Nasogastric tube feeding, Dysphagia,... ORPHA:163961
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Diarrhea, Hepatomegaly, Vomiting OMIM:605911
Selective Igm Deficiency
Crohn's disease, Neutropenia in presence of anti-neutropil antibodies, Recurrent infection of the... ORPHA:331235
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Abdominal distention, Abdominal pain, Leukopenia, Diarrhea, Abnormality of the gastr... ORPHA:93552
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Anal atresia, Duodenal atresia, Hepatomegaly, Biliary atresia, Abdominal... OMIM:306955
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Dyskeratosis Congenita, Autosomal Dominant 2
Neutropenia, Abnormality of the dentition, Leukopenia, Aplastic anemia, Esophageal stricture, Hep... OMIM:613989
Tularemia
Increased circulating antibody level, Leukocytosis, Abnormal nasopharyngeal adenoid morphology, A... ORPHA:3392
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Leukopenia, Abnormality of neutrophils, Hepatitis, Decreased circulat... ORPHA:381
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Everted lower lip vermilion, Splenomegaly, Diarrhea, Dysphagia OMIM:252930
Hirschsprung Disease
Short stature, Failure to thrive in infancy, Intestinal obstruction, Intestinal polyposis, Weight... ORPHA:388
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Colitis, Decreased circulating IgG level, Diarrhea, Inflammation of the large ... OMIM:608809
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Splenomegaly, Lymph node hypop... OMIM:613179
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Gastroesophageal reflux, Feeding difficulties, Intermittent diarrhea, Malnutrition, Mandibular pr... OMIM:619971
Shigellosis
Splenic abscess, Paralytic ileus, Acute colitis, Bloody mucoid diarrhea, Bloody diarrhea, Abdomin... ORPHA:810
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Cirrhosis, Diarrhea, Abnormal erythrocyte enzyme level, Hepatocellula... ORPHA:264580
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Alg9-Cdg
Wide mouth, Hypoplasia of the ovary, Gastroesophageal reflux, Microretrognathia, Periportal fibro... ORPHA:79328
Cranioectodermal Dysplasia
Taurodontia, Hypodontia, Everted lower lip vermilion, Abnormality of the dentition, Microdontia, ... ORPHA:1515
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Megaloblastic anemia, Gastritis, Folate-unresponsive megaloblastic anemia, Micrognathia, Diarrhea... ORPHA:2575
Benign Schwannoma
Intestinal polyposis, Abnormal esophagus morphology, Abnormality of the liver, Abnormal parotid g... ORPHA:252164
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gingival overgrowth, Gastroesophageal reflux, Constipation, Morphological abnormali... ORPHA:1834
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Protein-losing enteropathy OMIM:619063
Secretory Component Deficiency
Intermittent diarrhea, Secretory IgA deficiency OMIM:269650
Vascular Hyalinosis
Malabsorption, Diarrhea, Protein-losing enteropathy, Hematochezia OMIM:277175
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Ileus, Malabsorption, Neutropenia in presence of anti-neutropil antibo... ORPHA:37042
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Aa Amyloidosis
Malabsorption, Hepatomegaly, Abdominal pain, Vomiting, Cholestasis, Abnormal oral mucosa morpholo... ORPHA:85445
Immunodeficiency 59 And Hypoglycemia
High palate, Malabsorption, Hepatomegaly, Micrognathia, Decreased proportion of class-switched me... OMIM:233600
Gamma-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Autoimmune thrombocytopenia, Abnormal lymphocyte morphology, Autoimmu... ORPHA:100026
Boutonneuse Fever
Cervical lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased circulating IgM ... ORPHA:83313
Immunodeficiency 92
Decreased circulating IgA level, Hepatomegaly, Lymphocytosis, Leukocytosis, Decreased circulating... OMIM:619652
Immunodeficiency 55
Neutropenia, Lymphopenia, Lymphadenopathy, Absent natural killer cells OMIM:617827
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Hereditary Folate Malabsorption
Megaloblastic anemia, Cheilitis, Gastroesophageal reflux, Anorexia, Eosinophilia, Diarrhea, Gloss... ORPHA:90045
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... ORPHA:231214