Gene: Nkx2-3 MGI:97348

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

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

Human diseases associated with Nkx2-3 (0 diseases)
Human diseases predicted to be associated with Nkx2-3 (1570 diseases)

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	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

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