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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 (1601 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	Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion	OMIM:183350
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Carious teeth, Malnutrition, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequat...	OMIM:612714
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Anemia, Abdominal distention, H...	ORPHA:75233
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Decreased circulating IgA level, Decrea...	OMIM:617514
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Diarrhea, Acute hepatic failure, Hepatosplenomegaly, Hypersplenism, He...	OMIM:278000
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Secretory diarrhea, Reduced natural killer cell activity, Panc...	OMIM:616050
Hypoglossia With Situs Inversus	Microglossia, Polysplenia, Malnutrition, Micrognathia, Narrow mouth, Hypodontia, Feeding difficul...	OMIM:612776
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Diarrhea, Hypocholesterolemia, S...	OMIM:607765
Squamous Cell Carcinoma Of The Esophagus	Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting, Lymphadenopathy	ORPHA:99977
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Alpha-Heavy Chain Disease	Abnormal small intestine morphology, Malabsorption, Splenomegaly, Dysgammaglobulinemia, Anemia, L...	ORPHA:100025
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino...	ORPHA:2070
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Cervical l...	OMIM:618987
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Weight loss, Splenomegaly, Lymphadenopathy	ORPHA:52416
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Congenital Disorder Of Glycosylation, Type Ib	Hepatic fibrosis, Protein-losing enteropathy, Diarrhea, Hepatic failure, Vomiting, Villous atroph...	OMIM:602579
Bile Acid Synthesis Defect, Congenital, 2	Intrahepatic cholestasis, Hepatic failure, Diarrhea, Splenomegaly, Hepatomegaly, Jaundice, Steato...	OMIM:235555
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Congenital Tufting Enteropathy	Cholestatic liver disease, Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphol...	ORPHA:92050
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Lactose Intolerance, Adult Type	Diarrhea, Lactose intolerance, Abdominal pain, Decreased small intestinal mucosa lactase level, F...	OMIM:223100
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Abnormal immunoglobulin level, Feeding difficulties in infancy...	OMIM:618752
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea	OMIM:613291
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Malnutrition, Cholestasis, Villous atrophy, Abnormal small intestin...	ORPHA:95427
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy, Malnutrition, Protracted diarrhea	OMIM:251850
Reticular Dysgenesis	Impaired T cell function, Lack of T cell function, Lymphopenia, Leukopenia, Congenital agranulocy...	OMIM:267500
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Pancytopenia, Co...	OMIM:620282
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Jejunitis, Microcytic anemia, Malnutrition, Abnorm...	ORPHA:398063
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Pancyto...	OMIM:614700
Laryngotracheoesophageal Cleft Type 4	Abnormal mesentery morphology, Abnormality of the spleen, Cachexia, Tracheoesophageal fistula, In...	ORPHA:93941
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Diarrhea, Vomiting, Abdominal colic, Villous atrophy, Hyperlipidemia,...	OMIM:615863
Chylomicron Retention Disease	Vomiting, Diarrhea, Malnutrition, Hypocholesterolemia, Accumulation of lipid droplets in small-bo...	OMIM:246700
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal...	OMIM:615237
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level, T lymphocytopenia	OMIM:242870
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Villous atro...	OMIM:304790
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Malabsorption, Nausea, Abdominal distentio...	ORPHA:103907
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Intestinal obstruction, Rectal atresia, Duodenal atr...	OMIM:243150
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lack of T cell function, Increased circulating IgE level, ...	ORPHA:277
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Decreased circulating IgG level, Peritoneal eff...	ORPHA:90362
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Diarrhea, Hepatic failure, Hep...	OMIM:613812
Immunodeficiency 103, Susceptibility To Fungal Infections	Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of...	OMIM:212050
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ...	OMIM:616452
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Decreased specific anti-polysaccharide anti...	OMIM:606367
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased specific anti-polysaccharide antibody level, Decreased CD4:CD8 ratio, Decreased proport...	OMIM:300853
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy,...	ORPHA:99976
Pancreatic Colipase Deficiency	Cholelithiasis, Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic dia...	ORPHA:309108
Immunodeficiency 48	Panhypogammaglobulinemia, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation...	OMIM:269840
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopath...	ORPHA:100024
Chylomicron Retention Disease	Vomiting, Diarrhea, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Abdominal distention,...	ORPHA:71
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Abnormalit...	ORPHA:543
Immunodeficiency, Common Variable, 1	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:607594
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Diarrhea 12, With Microvillus Atrophy	Dependency on parenteral nutrition, Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PA...	OMIM:619445
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Immunodeficiency, Common Variable, 5	Abnormal T cell count, Abnormal B cell count, Chronic decreased circulating total IgG	OMIM:613495
Celiac Disease, Susceptibility To, 1	Diarrhea, Abdominal distention, Vomiting, Decreased circulating IgA level, Recurrent aphthous sto...	OMIM:212750
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of mem...	OMIM:618982
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Infantile Systemic Hyalinosis	Aplasia/Hypoplasia of the thymus, Abnormal dental morphology, Malabsorption, Gingival overgrowth,...	ORPHA:2176
Shwachman-Diamond Syndrome	Carious teeth, Aplastic anemia, Hypopituitarism, Pancytopenia, Oral ulcer, Impaired neutrophil ch...	ORPHA:811
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating IgA ...	OMIM:300400
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Congenital Disorder Of Glycosylation, Type Il	Long philtrum, Hypocholesterolemia, Villous atrophy, Splenomegaly, Hepatomegaly, Wide mouth	OMIM:608776
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Hypocholesterolemia, Malar flattening, Steatorrhea	OMIM:266510
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased CD4:CD8 ratio, Decreased circulating IgA level, Spleno...	OMIM:607271
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Atrophic gastritis, Cholelithiasis, Diarrhea, Malabsorption, Enamel hypoplasia, Chronic active he...	OMIM:240300
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia, Short stature	ORPHA:3204
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy...	ORPHA:251380
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Periapical bone loss, Dental malocclusion, Mandibular osteomyelitis...	ORPHA:83451
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Amelogenesis Imperfecta	Abnormal jaw morphology, Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hyp...	ORPHA:88661
Lysosomal Acid Lipase Deficiency	Diarrhea, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Xanthelasma, Fatal liver failur...	ORPHA:275761
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Protein-losing enteropathy, Decreased circulating IgA level, Chr...	OMIM:613502
Immunodeficiency 8 With Lymphoproliferation	Lymphopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine, ...	OMIM:615401
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	OMIM:619802
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Immunodeficiency 115 With Autoinflammation	Decreased circulating IgG level, Intestinal lymphangiectasia, Splenomegaly, Partial absence of sp...	OMIM:620632
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Mhc Class Ii Deficiency 1	Cutaneous anergy, Panhypogammaglobulinemia, Protracted diarrhea, Villous atrophy, Malabsorption, ...	OMIM:209920
Primary Ciliary Dyskinesia	Abnormal sperm motility, Polysplenia, Intestinal malrotation, Chronic sinusitis, Asplenia	ORPHA:244
Cholesteryl Ester Storage Disease	Hepatic failure, Diarrhea, Nausea and vomiting, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hy...	ORPHA:75234
Coproporphyria, Hereditary	Diarrhea, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Increased fecal coproporphyri...	OMIM:121300
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I...	OMIM:150550
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Extramedullary hematopoiesis, Cholestasis, Hepatic steatos...	ORPHA:79303
Immunodeficiency 31C	Protein-losing enteropathy, Diarrhea, Lymphopenia, Villous atrophy, Autoimmune hemolytic anemia, ...	OMIM:614162
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Lymphadeni...	OMIM:618986
Congenital Alveolar Capillary Dysplasia	Annular pancreas, Volvulus, Duodenal stenosis, Intestinal malrotation, Absent gallbladder, Agangl...	ORPHA:210122
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Sweeney-Cox Syndrome	Gastroesophageal reflux, Velopharyngeal insufficiency, Bilateral cryptorchidism, Micrognathia, Me...	OMIM:617746
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia, Fat malabsorption	OMIM:614338
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption	OMIM:607748
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Copper accumulation in liver, Prolonged neonatal jaundice, Chronic diarrhea,...	OMIM:619481
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia	OMIM:233650
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Micrognathia, Cryptorchidism, Abnormal palate morphology, Abnormality of neuronal...	ORPHA:2063
Ras-Associated Autoimmune Leukoproliferative Disorder	Leukemia, Pancytopenia, Splenomegaly, Follicular hyperplasia, Increased circulating antibody leve...	OMIM:614470
Gracile Bone Dysplasia	Failure to thrive, Ankyloglossia, Short stature, Asplenia, Hypoplastic spleen	OMIM:602361
Desmoplastic Small Round Cell Tumor	Ileus, Anemia, Cachexia, Weight loss, Lymphadenopathy, Abnormal peritoneum morphology, Testicular...	ORPHA:83469
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Primary Biliary Cholangitis	Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Xan...	ORPHA:186
Immunodeficiency 50	Lymphopenia, Decreased circulating antibody level, Neutropenia	OMIM:300988
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea	OMIM:619398
Trichohepatoenteric Syndrome 2	Diarrhea, Villous atrophy, Cirrhosis, Chronic hepatitis, Hepatomegaly, Colitis, Chronic diarrhea,...	OMIM:614602
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Gastroesophageal reflux, Dental crowding, Downturned corners of mouth, Decreased ...	OMIM:618268
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Reduce...	OMIM:308240
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Increased circulat...	ORPHA:169154
Persistent Polyclonal B-Cell Lymphocytosis	Hepatomegaly, Lymphocytosis, Splenomegaly, Decreased circulating total IgM	OMIM:606445
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the spleen	ORPHA:2487
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Abdominal situs inversus, Micrognathia, Cryptorchidism, Feeding difficulties in infanc...	OMIM:619123
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Decreased circulating IgG level, Diarrhea, Vomiting, Hypocholesterolemia, Decre...	OMIM:212065
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Abnormal natural killer cell physiology, Recu...	OMIM:613101
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Splenomegaly, ...	ORPHA:2930
Autoimmune Polyendocrine Syndrome, Type Ii	Thymoma, Hepatitis, Exocrine pancreatic insufficiency, Cirrhosis, Iron deficiency anemia, Chronic...	OMIM:269200
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Mulibrey Nanism	Hepatomegaly, Intrauterine growth retardation, Cachexia, Short stature	ORPHA:2576
Variant Abeta2M Amyloidosis	Gastrointestinal infarctions, Abnormal salivary gland morphology, Intestinal perforation, Hepatic...	ORPHA:314652
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Decreased circulating antibody level, Splenomegaly, Lymphadenopathy, B lym...	ORPHA:397596
Shwachman-Diamond Syndrome 2	Normocytic anemia, Diarrhea, Exocrine pancreatic insufficiency, Hyperechogenic pancreas, Neutrope...	OMIM:617941
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Anoperineal fistula, Decreased circulating total IgG, Follicular hyperplasia, Oral ulce...	OMIM:619381
Immunodeficiency, Common Variable, 11	Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Muco...	OMIM:615767
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Abnorm...	ORPHA:2198
Immunodeficiency 112	Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev...	OMIM:620449
Schimke Immuno-Osseous Dysplasia	Bone marrow hypocellularity, Abdominal distention, Abnormal proportion of naive CD4 T cells, Impa...	ORPHA:1830
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Cherubism	Dental malocclusion, Multiple impacted teeth, Oligodontia, Alveolar ridge overgrowth, Jaw swellin...	OMIM:118400
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Splenomegaly, Chro...	OMIM:616005
Renal-Hepatic-Pancreatic Dysplasia 1	Malformation of the hepatic ductal plate, Hepatic fibrosis, Biliary cirrhosis, Polysplenia, Chole...	OMIM:208540
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia, Hepatomeg...	OMIM:603552
Cystic Fibrosis	Biliary cirrhosis, Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal...	OMIM:219700
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, Cachexia, Weight loss	OMIM:613662
Feingold Syndrome 1	Accessory spleen, Annular pancreas, Polysplenia, Micrognathia, Jejunal atresia, Tracheoesophageal...	OMIM:164280
Reynolds Syndrome	Gastrointestinal hemorrhage, Biliary cirrhosis, Cholestasis, Lymphopenia, Splenomegaly, Lip telan...	OMIM:613471
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Lymphopenia, Decreased circulating...	OMIM:616100
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Abnormal T cell count, Impaired T cell function, Decreased circu...	OMIM:240500
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Intestinal malrotation, Asplenia, High palate, Solitary median maxillary central incisor	OMIM:619657
Glucagonoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Ac...	ORPHA:97280
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Inflammation of the large intestine, Conical tooth, Increased ci...	ORPHA:98813
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Vomiting, Diarrhea, Hepatic steatosis, Hepatomegaly,...	OMIM:605911
Cernunnos-Xlf Deficiency	Lymphopenia, Decreased circulating antibody level, Thrombocytopenia, B lymphocytopenia, Anemia, T...	ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Reduced natural killer cell activity, Hepatosplenomegaly, Anemia, Granulocytopenia	OMIM:608898
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Vomiting, Intestinal pseudo-obstruction, Intestinal malrota...	OMIM:300048
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Hemophagocytosis, Agranulocytosis, ...	OMIM:301078
Hypobetalipoproteinemia, Familial, 1	Steatorrhea, Hypocholesterolemia, Acanthocytosis, Hypertriglyceridemia	OMIM:615558
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic a...	OMIM:557000
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Immunodeficiency 70	Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent s...	OMIM:618969
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Diarrhea, Vomiting, Villous atrophy, High palate	OMIM:601110
Mosaic Trisomy 9	Intestinal malrotation, Micrognathia, Cryptorchidism, Asplenia, High palate, Cleft palate, Abnorm...	ORPHA:99776
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Panhypogammaglobulinemia, Increased circula...	OMIM:602450
Autoinflammatory Disease, Familial, Behcet-Like 3	Oral ulcer, Ileitis	OMIM:618287
Isolated Sedoheptulokinase Deficiency	Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Hypochromic microcytic an...	ORPHA:440713
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, Hepa...	OMIM:614034
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Polysplenia, Intestinal malrotation, Chronic sinusitis, Reduced progressive sperm motility, Duode...	OMIM:619608
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce...	OMIM:312863
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat...	OMIM:611926
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly...	OMIM:618495
Somatostatinoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97283
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hepatomegaly, Jaundice, Atr...	OMIM:619573
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Familial Adenomatous Polyposis 1	Carious teeth, Eruption failure, Duodenal adenocarcinoma, Duodenal polyposis, Multiple gastric po...	OMIM:175100
Heterotaxy, Visceral, 2, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Polysplenia	OMIM:605376
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Decreased cir...	OMIM:619281
Pearson Syndrome	Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Hypopl...	ORPHA:699
Feingold Syndrome	Annular pancreas, Abnormality of the spleen, Micrognathia, Orofacial cleft, Esophageal atresia, D...	ORPHA:1305
Immunodeficiency 27A	Increased circulating IgG level, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy,...	OMIM:209950
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, Abnormality of neuronal migration, Microlissencephaly, Dysphagia, Hypoplastic ...	ORPHA:89844
Gardner Syndrome	Abnormality of the dentition, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla ...	ORPHA:79665
Rosaï-Dorfman Disease	Anemia, Dysgammaglobulinemia, Lymphadenopathy	ORPHA:158014
Immunodeficiency 62	Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced isohemagglutinin...	OMIM:618459
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Desmoid tumors, Colorectal polyposis, Abnormal cementum morpholog...	ORPHA:733
Stormorken Syndrome	Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Short philtrum, Hypoplastic spleen	OMIM:185070
Pseudomyxoma Peritonei	Inflammation of the large intestine, Intestinal obstruction, Weight loss, Lymphadenopathy, Abnorm...	ORPHA:26790
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Villous atrophy, Portal hypertension, Hepatic ...	ORPHA:567983
Cholestasis, Progressive Familial Intrahepatic, 2	Intrahepatic cholestasis, Diarrhea, Splenomegaly, Intermittent jaundice, Cirrhosis, Hepatomegaly,...	OMIM:601847
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Reduced delayed hy...	OMIM:617241
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Abnormality of the dentition, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased ci...	OMIM:615952
Inflammatory Skin And Bowel Disease, Neonatal, 1	Increased circulating IgE level, Villous atrophy, Duodenitis, Bloody diarrhea	OMIM:614328
Netherton Syndrome	Decreased circulating IgG level, Increased circulating IgE level, Villous atrophy, Recurrent infe...	OMIM:256500
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Increased circulating antibody level, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Bile Acid Synthesis Defect, Congenital, 6	Steatorrhea	OMIM:617308
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Cutaneous anergy, Absent natural killer cells, Panhypogammaglobulinemia, Lymphopenia, Absent peri...	OMIM:600802
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Lymphopenia, Leukopenia, Splenomegaly, Decreased circulating tot...	OMIM:620210
Immunodeficiency With Hyper-Igm, Type 4	Impaired Ig class switch recombination, Autoimmune thrombocytopenia, Absence of lymph node germin...	OMIM:608184
Agammaglobulinemia 3, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i...	OMIM:613501
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Chronic noninfectious lymphadenopathy, Splenomegaly, Follicular...	OMIM:601859
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Reduced delayed hypersensitivity, Lymphopen...	OMIM:242700
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Duodenal atresia, Polysplenia	OMIM:617784
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Hepatomegaly, Anemia, Lymphadenopathy, Thro...	OMIM:603554
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Decreased circulating IgA level, ...	OMIM:613493
Trichothiodystrophy 3, Photosensitive	Carious teeth, Meckel diverticulum, Natal tooth, Bilateral cryptorchidism, Lymphopenia, Increased...	OMIM:616395
Syndromic Diarrhea	Hepatic fibrosis, Intractable diarrhea, Panhypogammaglobulinemia, Lymphopenia, Abnormality of the...	ORPHA:84064
Immunodeficiency 114, Folate-Responsive	Decreased circulating IgG level, Carious teeth, Increased circulating IgE level, Lymphopenia, Aph...	OMIM:620603
Trichohepatoenteric Syndrome 1	Hepatic fibrosis, Bifid uvula, Hepatic failure, Intractable diarrhea, Long philtrum, Cholestasis,...	OMIM:222470
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Secretory diarrhea, Cholestasis, Villous atrophy, Increased in...	OMIM:619377
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Atrophic gastritis, Decreased circulating IgG level, Inflammation of the large intestine, Diarrhe...	ORPHA:436159
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Anemia, Acute myelo...	OMIM:260400
Cyclic Neutropenia	Recurrent tonsillitis, Periodontitis, Atrophy of alveolar ridges, Cervical lymphadenopathy, Lymph...	ORPHA:2686
48,Xxyy Syndrome	Broad jaw, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Thick lower lip ver...	ORPHA:10
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Abnormal circulating IgM level, Increased circulating IgA...	OMIM:618048
Mitochondrial Neurogastrointestinal Encephalomyopathy	Gastroesophageal reflux, Gastrointestinal dysmotility, Abnormality of the gastrointestinal tract,...	ORPHA:298
Sea-Blue Histiocyte Disease	Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Lysinuric Protein Intolerance	Hepatic failure, Diarrhea, Vomiting, Hemophagocytosis, Hepatic amyloidosis, Decreased response to...	ORPHA:470
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Increased circulating IgM level	ORPHA:37748
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Agammaglobulinemia 2, Autosomal Recessive	Decreased circulating IgA level, Agammaglobulinemia, Absent circulating B cells, Abnormal T cell ...	OMIM:613500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Micrognathia, Chr...	ORPHA:476126
Immunodeficiency 60 And Autoimmunity	Decreased proportion of memory B cells, Decreased circulating IgG level, Pancytopenia, Decreased ...	OMIM:618394
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Steatorrhea, Chronic diarrhea, Duodenal ulcer, Malabsorption	ORPHA:3217
Spinocerebellar Ataxia, Autosomal Recessive 20	Dental crowding, Delayed eruption of teeth, Long philtrum, Splenomegaly, Broad philtrum, Thick ve...	OMIM:616354
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Laryngeal Neuroendocrine Tumor	Adrenocorticotropic hormone excess, Weight loss, Chronic noninfectious lymphadenopathy, Oral-phar...	ORPHA:100083
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Oral-pharyngeal dys...	ORPHA:199306
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Reduced natural killer cell count, Cutaneous abscess, Increased ...	OMIM:619752
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Esophageal carcinoma, Diarrhea, Hepatitis, Lymphopenia, Hepatosplenomegaly, Villous atrophy, Auto...	ORPHA:391487
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Hypopl...	ORPHA:2585
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenom...	ORPHA:331206
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Decreased liver function, Anorexia, Hepatosplenomegaly, Pa...	ORPHA:98850
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Cholestasis, Progressive Familial Intrahepatic, 1	Cholelithiasis, Diarrhea, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Cleft lip, Annular pancreas, Meckel diverticulum, Retrognat...	OMIM:265380
Autoimmune Lymphoproliferative Syndrome, Type Iia	Increased circulating IgG level, Reduced delayed hypersensitivity, Chronic noninfectious lymphade...	OMIM:603909
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Agammaglobulinemia 10, Autosomal Dominant	Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Agammagl...	OMIM:619707
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Leishmaniasis	Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Increased circulating ant...	ORPHA:507
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Proprotein Convertase 1/3 Deficiency	Diarrhea, Decreased circulating cortisol level, Villous atrophy, Malabsorption	OMIM:600955
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Cachexia, Anemi...	OMIM:175500
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia	OMIM:152800
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth	OMIM:183300
Zimmermann-Laband Syndrome	Bifid uvula, Anterior open-bite malocclusion, Micrognathia, Splenomegaly, Supernumerary tooth, Hy...	ORPHA:3473
Cog7-Cdg	Diarrhea, Retrognathia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Hepatomegaly, Jaundice, F...	ORPHA:79333
Dyskeratosis Congenita	Carious teeth, Periodontitis, Cirrhosis, Hepatomegaly, Esophageal stenosis, Hypoplasia of the max...	ORPHA:1775
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Homozygous 11P15-P14 Deletion Syndrome	Abnormal intestine morphology, Diarrhea, Feeding difficulties in infancy, Vomiting	OMIM:606528
Meckel Syndrome, Type 1	Malformation of the hepatic ductal plate, Accessory spleen, Natal tooth, Cleft upper lip, Intesti...	OMIM:249000
Galactose Epimerase Deficiency	Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay	ORPHA:79238
Jejunal Atresia	Jejunal atresia	OMIM:243600
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Macroglossia, Constipation, Delayed eruption of teeth	OMIM:614450
Hennekam Syndrome	Abnormal oral mucosa morphology, Delayed eruption of teeth, Retrognathia, Tooth agenesis, Lymphop...	ORPHA:2136
Pitt-Hopkins Syndrome	Tooth malposition, Gastroesophageal reflux, Failure of eruption of permanent teeth, Supernumerary...	ORPHA:2896
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per...	ORPHA:343
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Abetalipoproteinemia	Hepatic fibrosis, Vomiting, Hypocholesterolemia, Acanthocytosis, Hepatic steatosis, Reticulocytos...	ORPHA:14
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227990
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombo...	OMIM:618963
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath...	OMIM:615122
Transcobalamin Deficiency	Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro...	ORPHA:859
Renal-Hepatic-Pancreatic Dysplasia 2	Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Hepatic cysts, Stillbirt...	OMIM:615415
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Diarrhea, Vomiting, Decreased liver function, Long philtrum, Cholesta...	OMIM:608104
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Partial absence of specif...	OMIM:618108
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Oral ulcer, Ileal ulcer, Thrombocytopenia, Colitis, Hemolytic anemia	OMIM:616744
Congenital Syphilis	Diarrhea, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Malabsorp...	ORPHA:499009
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Pulp calcification, ...	OMIM:166750
Otodental Syndrome	Abnormality of canine, Abnormal dental pulp morphology, Carious teeth, Periodontitis, Abnormal mo...	ORPHA:2791
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, B lymphocyt...	OMIM:612692
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Gingival overgrowth, Exaggerated cupid's b...	ORPHA:2025
Mucopolysaccharidosis, Type Ii	Diarrhea, Intestinal pseudo-obstruction, Delayed eruption of teeth, Thick lower lip vermilion, Wi...	OMIM:309900
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Kaposi Sarcoma	Diarrhea, Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Abnor...	ORPHA:33276
Immunodeficiency 7	Hypereosinophilia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Stromme Syndrome	Accessory spleen, Intestinal malrotation, Micrognathia, Jejunal atresia, Stillbirth, Wide mouth, ...	OMIM:243605
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Iron deficiency anemia, Abdominal di...	ORPHA:309031
American Trypanosomiasis	Diarrhea, Splenomegaly, Aganglionic megacolon, Achalasia, Lymphadenopathy, Hepatomegaly, Abdomina...	ORPHA:3386
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abdominal distention, Abnormal small intestinal villus morphology	ORPHA:2290
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating IgG level, Diarrhea, Retrognathia, Decreased circulating IgA level, B lymph...	OMIM:614069
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ...	OMIM:226300
Short Stature-Wormian Bones-Dextrocardia Syndrome	Broad alveolar ridges, Delayed eruption of teeth, Tooth agenesis, Micrognathia, Cryptorchidism, A...	ORPHA:2863
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Malnutrition, Abnormality of the spleen, Abnorma...	ORPHA:79456
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, M...	OMIM:235255
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Thin upper lip vermilion,...	OMIM:616263
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Reduced na...	ORPHA:276
Melioidosis	Brain abscess, Hepatitis, Cutaneous abscess, Parotitis, Abnormality of the spleen, Splenic absces...	ORPHA:31202
Intestinal Dysmotility Syndrome	Diarrhea, Decreased intestinal transit time, Projectile vomiting, Broad philtrum, Abdominal diste...	OMIM:620045
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Gastroesophageal reflux, Dental crowding, Persistence of hemoglobin F, Persistence of primary tee...	OMIM:619769
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Cervical lymphadenopathy, Anorexia, Leukopenia, Enlargement of pa...	ORPHA:50918
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Steatorrhea, Pancreatic hypoplasia, Pancreatic aplasia	OMIM:615935
Whim Syndrome	Lymphadenitis, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Abnormal small intestine m...	ORPHA:51636
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating IgG level, Hepatosplenomegaly, Complete or near-complete absence of specifi...	OMIM:301081
Autoimmune Polyendocrinopathy Type 3	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the sple...	ORPHA:227982
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Abnormal cortical gyration, Decreased specific anti-polysacc...	OMIM:614576
Tetraamelia Syndrome 1	Cleft upper lip, Micrognathia, Adrenal gland agenesis, Asplenia, Anal atresia, Cleft palate	OMIM:273395
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Panhypogammaglobulinemia, T lymphocytopenia, B lymphocytopenia	OMIM:601457
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Alg6-Cdg	Protein-losing enteropathy, Macroglossia, Abnormality of the liver, Jaundice, Feeding difficulties	ORPHA:79320
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn...	OMIM:615214
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Neutropenia, Monocytosis	OMIM:613107
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Cachexia, Abnormality of the g...	ORPHA:1876
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Portal hypertension...	ORPHA:824
Small Bowel Atresia	Failure to thrive, Intestinal malrotation, Intrauterine growth retardation, Jejunal atresia, Inte...	ORPHA:1201
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Granuloma, Lymphopenia, Hepatosplenomeg...	OMIM:618935
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De...	ORPHA:70593
Immunodeficiency, Common Variable, 13	Decreased circulating antibody level, Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia	OMIM:616873
Pancreatitis, Hereditary	Exocrine pancreatic insufficiency, Pancreatic calcification, Pancreatitis, Steatorrhea, Abdominal...	OMIM:167800
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Oral ulcer, Cirrhosis, Increased circulating IgA level, Neutropenia, Hepatomegaly, Stom...	OMIM:308230
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Delayed eruption of teeth, Tooth agenesis, Abnormal dental enamel morphology, Anemia, Short philt...	ORPHA:2325
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Dental crowding, Retrognathia, Thick lower lip vermilion, Persistence of primary teeth, Micrognat...	OMIM:618342
Smith-Magenis Syndrome	Gastroesophageal reflux, Cleft upper lip, Micrognathia, Open mouth, Tented upper lip vermilion, D...	ORPHA:819
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting, Swollen lip	OMIM:619367
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Hepatitis, Lymphopenia, Hepatosplenomegaly, Increased circulatin...	ORPHA:169160
Elsahy-Waters Syndrome	Bifid uvula, Anal stenosis, Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of t...	OMIM:211380
Pseudoaminopterin Syndrome	Micrognathia, Cryptorchidism, Microdontia, Short philtrum, Nasogastric tube feeding in infancy, O...	ORPHA:221120
Mirage Syndrome	Gastroesophageal reflux, Lymphopenia, Leukopenia, Decreased testicular size, Cryptorchidism, Acha...	OMIM:617053
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Severe B lymphocytopenia, Increased circulating IgE level, Lymphopenia, Decreased circulating IgA...	OMIM:102700
Oculoskeletodental Syndrome	Protein-losing enteropathy, Splenomegaly, Cryptorchidism, Oligodontia, Hepatomegaly, Macroglossia	OMIM:618440
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:319487
Renpenning Syndrome	High, narrow palate, Severe short stature, Decreased testicular size, Cachexia, Anal atresia, Gro...	ORPHA:3242
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating antibody level, Ane...	OMIM:615285
Al Amyloidosis	Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Gastroparesis, Abnormality of the l...	ORPHA:85443
Autoinflammatory-Pancytopenia Syndrome	Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Hepatosplenomegaly, Pan...	OMIM:619858
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo...	OMIM:619322
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete...	OMIM:613494
Ciliary Dyskinesia, Primary, 1	Absent frontal sinuses, Asplenia, Chronic sinusitis	OMIM:244400
Aids Wasting Syndrome	Cachexia, Weight loss	ORPHA:90081
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal platelet morphology, Abnormal intestine morphology, Pyloric sten...	ORPHA:2978
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:97290
Feingold Syndrome 2	Short stature, Postnatal growth retardation, Intestinal atresia	OMIM:614326
Gapo Syndrome	High, narrow palate, Eruption failure, Long philtrum, Thick lower lip vermilion, Breast hypoplasi...	OMIM:230740
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,...	ORPHA:54251
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Aphthous ulcer, Int...	OMIM:266600
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Peptic ulcer, Diarrhea, Chronic myelomonocytic leukemia, Leukocytosis, Splenom...	ORPHA:98849
Folate Malabsorption, Hereditary	Diarrhea, Leukopenia, Folate-responsive megaloblastic anemia, Malabsorption, Oral ulcer, Feeding ...	OMIM:229050
Autosomal Dominant Severe Congenital Neutropenia	Diarrhea, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis, Recurrent i...	ORPHA:486
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Gastrointestinal infarctions, Portal hypertension, Cholecystitis, In...	ORPHA:131
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Absent natural killer cells, Lack of T cell function, Lymphopeni...	ORPHA:35078
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Down Syndrome	Narrow mouth, Protruding tongue, Acute megakaryocytic leukemia, Chronic constipation, Open mouth,...	ORPHA:870
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Pancytopenia, Abnormality of T cel...	OMIM:181000
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Idiopathic Achalasia	Gastroesophageal reflux, Dysphagia, Weight loss	ORPHA:930
Heterotaxy, Visceral, 5, Autosomal	Abdominal situs inversus, Intestinal malrotation, Abdominal situs ambiguus, Asplenia, Duodenal at...	OMIM:270100
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Cystic Fibrosis	Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Abnormality of the li...	ORPHA:586
Alexander Disease Type I	Cachexia, Dysphagia, Failure to thrive	ORPHA:363717
Mpi-Cdg	Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Vomiting, Diarrhea, De...	ORPHA:79319
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio...	ORPHA:85450
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Abdominal distention, Pancreatic lymphangiectasis, H...	ORPHA:1655
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Trichodentoosseous Syndrome	Taurodontia, Microdontia, Widely spaced teeth	OMIM:190320
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Narrow mouth, Malar flattening, Multiple impacted teeth, Absent frontal...	OMIM:311300
Aredyld Syndrome	Intrauterine growth retardation, Splenomegaly, Cachexia, Hepatomegaly, Short stature	ORPHA:1133
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Cleft...	OMIM:618761
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Splenomegaly, Autoimmune hemoly...	OMIM:612783
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k...	ORPHA:79124
Meckel Syndrome	Accessory spleen, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Micrognathia, Cryptorchidism...	ORPHA:564
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Mitchell-Riley Syndrome	Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C...	OMIM:615710
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Abnormal T cell count, Decreased circulating IgG ...	OMIM:620430
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Ring Chromosome 10 Syndrome	Aganglionic megacolon, Intrauterine growth retardation, Cachexia	ORPHA:1438
Eiken Syndrome	Eruption failure, Thick lower lip vermilion, Persistence of primary teeth, Multiple impacted teet...	OMIM:600002
5-Oxoprolinase Deficiency	Diarrhea, Abdominal pain, Vomiting, Enterocolitis	OMIM:260005
Familial Pancreatic Carcinoma	Peritoneal abscess, Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic...	ORPHA:1333
Immunodeficiency, Common Variable, 6	Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat...	OMIM:613496
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Osteoglosphonic Dysplasia	Multiple unerupted teeth, Micrognathia, Cryptorchidism, Tooth agenesis	ORPHA:2645
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly	ORPHA:391
Hemifacial Atrophy, Progressive	Dental malocclusion, Tongue atrophy, Delayed eruption of teeth, Short mandibular rami	OMIM:141300
Isolated Agammaglobulinemia	Diarrhea, Abnormal lymphocyte morphology, Malabsorption, Abnormality of the lymphatic system, Abn...	ORPHA:229717
Sézary Syndrome	Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglobulin level, Lymphadenopathy, Hep...	ORPHA:3162
Sapho Syndrome	Inflammation of the large intestine, Craniofacial osteosclerosis, Malabsorption, Steatorrhea, Abd...	ORPHA:793
Pleural Mesothelioma	Hepatomegaly, Weight loss, Dysphagia, Lymphadenopathy	ORPHA:50251
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy, Macroglossia, Glossitis, Chronic diarrhea, Ovarian neoplasm, Poor appetite	ORPHA:2221
Heterotaxy, Visceral, 1, X-Linked	Abdominal situs inversus, Polysplenia, Posteriorly placed anus, Biliary atresia, Hepatomegaly, As...	OMIM:306955
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:158029
Typhoid	Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Constipation, Hepatomegaly, Abdominal pain	ORPHA:99745
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Cutaneous Photosensitivity And Colitis, Lethal	Colitis, Diarrhea	OMIM:219095
Tetrasomy 12P	Short stature, Abnormal soft palate morphology, Anal atresia, Cachexia	ORPHA:884
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Intestinal atresia, Duodenal atresia	ORPHA:3405
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Reduced natural killer cell count, Diarrhea, Decreased circulating IgA level, Malabsorption, Micr...	OMIM:242860
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Hepatosplenomegaly, Cirrhosis, Jaundice, Fat malabsorption, Bile du...	ORPHA:79302
Reticular Dysgenesis	Diarrhea, Aplasia/Hypoplasia of the thymus, Leukopenia, Malabsorption, Anemia, Abnormality of neu...	ORPHA:33355
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Colonic eosinophilia, Eosinophilia, Decreased circulating total ...	OMIM:617638
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Narrow palate, Delayed eruption of teeth, Retrognathia, Intestinal ly...	OMIM:235510
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
48,Xxxy Syndrome	Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Decreased testicula...	ORPHA:96263
Good Syndrome	Thymoma, Diarrhea, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Dysphagia, Th...	ORPHA:169105
Congenital Disorder Of Glycosylation, Type Iij	Hepatic failure, Recurrent infection of the gastrointestinal tract, Splenomegaly, Cirrhosis, Hepa...	OMIM:613489
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Diarrhea 8, Secretory Sodium, Congenital	Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distention	OMIM:616868
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Dental crowding, Delayed eruption of teeth, Long philtrum, Chronic constipation, Feeding difficul...	OMIM:618825
Cranioectodermal Dysplasia 4	Taurodontia, Bone marrow hypocellularity, Smooth philtrum, Thin vermilion border	OMIM:614378
Tularemia	Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morph...	ORPHA:3392
Graft Versus Host Disease	Diarrhea, Vomiting, Hemophagocytosis, Hepatosplenomegaly, Recurrent gastroenteritis, Oral ulcer, ...	ORPHA:39812
Snijders Blok-Campeau Syndrome	Widely spaced teeth, Taurodontia, Enamel hypoplasia, High palate, Feeding difficulties	OMIM:618205
Christianson Syndrome	Cachexia, Gastroesophageal reflux, Dysphagia	ORPHA:85278
Bone Marrow Failure Syndrome 6	Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp...	OMIM:618849
Trisomy 9P	Impacted tooth, Dental crowding, Non-midline cleft of the upper lip, Downturned corners of mouth	ORPHA:236
Dyskeratosis Congenita, Autosomal Dominant 2	Bone marrow hypocellularity, Hepatic fibrosis, Abnormality of the dentition, Aplastic anemia, Ora...	OMIM:613989
Congenital Toxoplasmosis	Diarrhea, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Jaundice	ORPHA:858
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the subman...	ORPHA:79078
Combined Immunodeficiency Due To Dock8 Deficiency	Increased circulating IgE level, T lymphocytopenia, B lymphocytopenia	ORPHA:217390
49,Xxxxy Syndrome	Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Open bite, Decreased testicula...	ORPHA:96264
Boutonneuse Fever	Cervical lymphadenopathy, Leukopenia, Lymphadenopathy, Thrombocytopenia, Increased circulating Ig...	ORPHA:83313
Benign Schwannoma	Abnormal esophagus morphology, Abnormality of the liver, Intestinal polyposis, Abnormal parotid g...	ORPHA:252164
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Diarrhea, Panhypogammaglobulinemia, Lack of T cell function, Protracted d...	ORPHA:572
Immunodeficiency 40	Focal active colitis, Eosinophilic granuloma, Intermittent diarrhea, Chronic diarrhea, Reduced an...	OMIM:616433
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating IgG level, Agammaglobulinemia, Absent circulating B cells, Decreased propor...	OMIM:619705
Hirschsprung Disease	Failure to thrive in infancy, Functional abnormality of the gastrointestinal tract, Intestinal po...	ORPHA:388
Johanson-Blizzard Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Anteriorly placed anus, Exocrine pancrea...	ORPHA:2315
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Dominant Beta-Thalassemia	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231226
Oculofaciocardiodental Syndrome	Tooth malposition, Abnormality of the dentition, Delayed eruption of teeth, Long philtrum, Intest...	ORPHA:2712
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Esophageal stricture	OMIM:616029
Immunodeficiency 15B	Agammaglobulinemia, Reduced natural killer cell count, Decreased circulating antibody level, Mono...	OMIM:615592
Axial Mesodermal Dysplasia Spectrum	Gastroesophageal reflux, Abnormality of the spleen, Abnormality of the liver, Anorectal anomaly, ...	ORPHA:1834
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Selective Igm Deficiency	Decreased proportion of transitional B cells, Lymphadenitis, Cutaneous abscess, Decreased proport...	ORPHA:331235
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Ch...	OMIM:615607
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Abnormal natural killer cell morphology, B lymphocytopenia, Pachygyria, T lymphocytopenia, Simpli...	OMIM:615966
Pediatric Systemic Lupus Erythematosus	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Oral ulcer, Abnor...	ORPHA:93552
Igg4-Related Ophthalmic Disease	Colon cancer, Increased circulating IgE level, Increased circulating IgG4 level, Abnormality of t...	ORPHA:449563
Mucopolysaccharidosis, Type Iiic	Diarrhea, Splenomegaly, Everted lower lip vermilion, Hepatomegaly, Dysphagia	OMIM:252930
Cog4-Cdg	Hepatosplenomegaly, Recurrent infection of the gastrointestinal tract, Fatal liver failure in inf...	ORPHA:263501
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Gastroesophageal reflux, Malnutrition, Intermittent diarrhea, Mandibular prognathia, Feeding diff...	OMIM:619971
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Autoimmune hemolytic anemia, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:100026
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Immunodeficiency 9	Decreased circulating IgG level, Lymphopenia, Decreased circulating IgA level, Recurrent aphthous...	OMIM:612782
Shigellosis	Hepatic failure, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Cholestasis, Bl...	ORPHA:810
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Chylous Ascites	Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Diarrhea, Vomiting, Long philtrum, Mic...	ORPHA:79328
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hepatitis, Failure to thrive in infancy, Ileus, Autoimmune hemolytic anemia, Recurrent gastroente...	ORPHA:37042
Secretory Component Deficiency	Intermittent diarrhea, Secretory IgA deficiency	OMIM:269650
Cranioectodermal Dysplasia	Abnormality of the dentition, Abnormal dental enamel morphology, Microdontia, Taurodontia, Hypodo...	ORPHA:1515
Majeed Syndrome	Failure to thrive, Leukocytosis, Splenomegaly, Cachexia, Weight loss, Hypochromic microcytic anem...	ORPHA:77297
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Diarrhea, Vomiting, Cholestasis, Hepatic steatosis, Splenomega...	ORPHA:264580
Hereditary Folate Malabsorption	Cheilitis, Gastroesophageal reflux, Diarrhea, Pancytopenia, Nausea and vomiting, Eosinophilia, Me...	ORPHA:90045
X-Linked Creatine Transporter Deficiency	Short stature, Aganglionic megacolon, Cachexia, Ileus	ORPHA:52503
Immune Dysregulation, Autoimmunity, And Autoinflammation	Cervical lymphadenopathy, Inguinal lymphadenopathy, Anemia	OMIM:620514
Vascular Hyalinosis	Protein-losing enteropathy, Diarrhea, Hematochezia, Malabsorption	OMIM:277175
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Folate-unresponsive megaloblastic anemia, Diarrhea, Abnormal erythrocyte morphology, Micrognathia...	ORPHA:2575
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Neuroendocrine Neoplasm Of Appendix	Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Adenocarcinoma of the ...	ORPHA:100079
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Cachexia, Weight loss, Failure to thrive	OMIM:612075
Familial Mediterranean Fever	Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, L...	ORPHA:342
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Wide mouth, Cryptorchidism, ...	OMIM:614607
Rubinstein-Taybi Syndrome 2	Talon cusp, Carious teeth, Dental malocclusion, Retrognathia, Intestinal malrotation, Micrognathi...	OMIM:613684
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Duodenal stenosis, Intrauterine growth retardation, Cryptorc...	ORPHA:2470
Brooke-Spiegler Syndrome	Abnormality of the submandibular glands, Abnormality of the sublingual glands, Salivary gland neo...	ORPHA:79493
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Trehalase Deficiency	Abdominal pain, Diarrhea	OMIM:612119
Ciliary Dyskinesia, Primary, 53	Abdominal situs inversus, Hypoplastic spleen, Polysplenia	OMIM:620642
Beta-Thalassemia Major	Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi...	ORPHA:231214
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M pr...	ORPHA:33226
Proteasome-Associated Autoinflammatory Syndrome 3	Lymphopenia, Splenomegaly, Increased circulating antibody level, Anemia, Lymphadenopathy, Thrombo...	OMIM:617591
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Retrognathia, Nasogastric tube feeding, Micrognathia, Dysphagia, Feeding dif...	ORPHA:163961
Lowry-Maclean Syndrome	High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Abnormality of the abdominal organs, ...	ORPHA:2409
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Weight loss, Cleft palate	ORPHA:141152
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Micrognathia, Dysphagia, Volvulus	OMIM:617802
X-Linked Agammaglobulinemia	Hepatitis, Malabsorption, Chronic diarrhea, Abnormality of the lymphatic system, Agammaglobulinem...	ORPHA:47
Immunodeficiency 81	Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop...	OMIM:619374
4H Leukodystrophy	Abnormality of the dentition, Delayed eruption of teeth, Decreased response to growth hormone sti...	ORPHA:289494
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Bloody diarrhea, Leukocytosis, Intestinal obstruction, Gastrointes...	ORPHA:67
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cell...	ORPHA:83471
Mcdonough Syndrome	Short stature, Cachexia, Cryptorchidism	ORPHA:2471
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Delayed eruption of teeth, Agenesis of permanent tee...	ORPHA:2228
Osteoglophonic Dysplasia	Hypoplasia of the maxilla, Delayed eruption of teeth, Eruption failure, Long philtrum, Cryptorchi...	OMIM:166250
Immunodeficiency 67	Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co...	OMIM:607676
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Dental crowding, Increased circulating IgE level, Eosinophilia, Macroglossia, Chronic diarrhea	OMIM:618523
Temple-Baraitser Syndrome	Everted upper lip vermilion, Delayed eruption of teeth, Long philtrum, Gingival overgrowth, Open ...	ORPHA:420561
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea, Decrease...	ORPHA:79327
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Polycystic ovaries, Advanced eruption of teeth, Pancreatitis, Hy...	ORPHA:2348
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Gastroesophageal reflux, Hepatitis, Pancytopenia, Hypersplenism, Portal hypertension, Splenomegal...	OMIM:613385
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Neuropathy, Congenital Hypomyelinating, 3	Gastroesophageal reflux, Neonatal death, Cachexia, High palate, Narrow palate	OMIM:618186
Immunodeficiency 43	Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r...	OMIM:241600
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Diarrhea, Hepatosplenomegaly, Micrognathia, Tented upper l...	ORPHA:79322
Martinez-Frias Syndrome	Annular pancreas, Pancreatic hypoplasia, Intestinal malrotation, Jejunal atresia, Tracheoesophage...	OMIM:601346
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Lymp...	OMIM:617099
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgE, Decreased circulating IgA level, Lymp...	OMIM:300755
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Increased ci...	ORPHA:319218
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Oral ulcer, In...	OMIM:260920
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Malar flattening, Hypodontia, Alveolar pro...	ORPHA:2972
Familial Mediterranean Fever	Diarrhea, Vomiting, Aphthous ulcer, Leukocytosis, Splenomegaly, Chronic constipation, Crohn's dis...	OMIM:249100
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto...	OMIM:616084
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Prolonged...	OMIM:257200
Ramon Syndrome	Abnormal dental enamel morphology, Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	ORPHA:3019
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Taurodo...	OMIM:157980
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad...	OMIM:155310
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancyt...	OMIM:259710
Whipple Disease	Gastrointestinal hemorrhage, Splenomegaly, Anemia, Cachexia, Hepatomegaly, Mediastinal lymphadeno...	ORPHA:3452
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Rabies	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:770
Pycnodysostosis	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Dental malocclusion, Decr...	ORPHA:763
Fanconi Anemia, Complementation Group F	Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Leukopenia, C...	OMIM:603467
Glycogen Storage Disease Ixb	Hepatomegaly, Diarrhea, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Autosomal Agammaglobulinemia	Diarrhea, Hepatitis, Malabsorption, Agammaglobulinemia, Neutropenia, Sinusitis, High palate	ORPHA:33110
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Deep philtrum, Lymphadenopathy, High palate, Decreased cir...	OMIM:619750
Taurodontism	Taurodontia	OMIM:272700
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Weight loss, Hematochezia	ORPHA:103910
Systemic Lupus Erythematosus 17	Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia	OMIM:301080
Adult Idiopathic Neutropenia	Lymphopenia, Neutropenia, Monocytosis, Monocytopenia, Increased circulating IgM level	ORPHA:2688
Congenital Disorder Of Glycosylation, Type Ii	Diarrhea, Gastroesophageal reflux, Nasogastric tube feeding, Iron deficiency anemia, Hepatomegaly...	OMIM:607906
Fryns Syndrome	Microretrognathia, Meckel diverticulum, Polysplenia, Long philtrum, Intestinal malrotation, Cleft...	OMIM:229850
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,...	ORPHA:90363
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Dyskeratosis Congenita, Autosomal Recessive 5	Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard...	OMIM:615190
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Anaplastic Thyroid Carcinoma	Goiter, Tracheoesophageal fistula, Weight loss, Lymphadenopathy, Nodular goiter, Dysphagia	ORPHA:142
Coffin-Siris Syndrome 3	Long philtrum, Delayed eruption of permanent teeth, Wide mouth, Thick vermilion border, Macroglos...	OMIM:614608
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Lissencephaly, X-Linked, 2	Diarrhea, Long philtrum, Decreased testicular size, Micrognathia, Thin upper lip vermilion, Feedi...	OMIM:300215
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Purine Nucleoside Phosphorylase Deficiency	Impaired T cell function, Lymphopenia, Lymph node hypoplasia, Abnormality of B cell physiology, S...	OMIM:613179
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Widely spaced teeth, Periapical tooth abscess, Enamel hypomineralization, Mic...	ORPHA:3352
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Splenomegaly, Anemia, Lymphadenopathy, Neutropenia, Thrombocytopenia...	ORPHA:158061
Macrocephaly/Autism Syndrome	Hepatomegaly, Lymphopenia, Decreased circulating antibody level, Splenomegaly	OMIM:605309
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i...	OMIM:617780
Emanuel Syndrome	Broad jaw, Gastroesophageal reflux, Dental crowding, Long philtrum, Intestinal malrotation, Feedi...	OMIM:609029
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2222
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy	OMIM:619183
Tooth Agenesis, Selective, 3	Oligodontia, Agenesis of permanent molar, Oligodontia of primary teeth, Microdontia	OMIM:604625
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Cutaneous...	ORPHA:443811
Mowat-Wilson Syndrome	Tooth malposition, Open mouth, Cryptorchidism, Everted lower lip vermilion, Dysphagia, Bowel inco...	ORPHA:2152
Dengue Fever	Gingival bleeding, Gastrointestinal hemorrhage, Diarrhea, Leukopenia, Nausea and vomiting, Thromb...	ORPHA:99828
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Anemia, Eosinophilia, Lymphadenopathy...	ORPHA:39041
Sepsis In Premature Infants	Diarrhea, Abdominal distention, Vomiting, Decreased liver function, Functional abnormality of the...	ORPHA:90051
Autoinflammatory Disease, Systemic, With Vasculitis	Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal circulating IgG level, Oral ulcer, Hepatomega...	OMIM:620376
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Bloody diarrhea, Labial melanot...	OMIM:175200
Camptodactyly Syndrome, Guadalajara Type 1	Dental malocclusion, Downturned corners of mouth, Open bite, Narrow mouth, Abnormality of dental ...	ORPHA:1327
Gingival Fibromatosis-Hypertrichosis Syndrome	Gingival fibromatosis, Abnormality of the dentition, Gingival overgrowth, Delayed eruption of teeth	ORPHA:2026
Rapp-Hodgkin Syndrome	Bifid uvula, Conical tooth, Carious teeth, Hypoplasia of the maxilla, Velopharyngeal insufficienc...	OMIM:129400
Short-Rib Thoracic Dysplasia 12	Periportal fibrosis, Natal tooth, Hamartoma of tongue, Intestinal malrotation, Median cleft palat...	OMIM:269860
B4Galt1-Cdg	Diarrhea, Long philtrum, Splenomegaly, Thin upper lip vermilion, Hepatomegaly	ORPHA:79332
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Tooth malposition, Open mouth, Cryptorchidism, Dysphagia, Bowel incontinence, Polymicrogyria, Per...	ORPHA:261537
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Inflammation of the large intestine, Hematochezia, Lymphadenitis, Cholestasis, ...	OMIM:615895
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Hepatomegaly, Duodenal stenosis	ORPHA:1759
Neurofibroma	Intestinal bleeding, Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Abnorma...	ORPHA:252183
Zygomycosis	Diarrhea, Ileitis, Colitis, Neutropenia, Abdominal pain, Gastrointestinal hemorrhage, Peritonitis...	ORPHA:73263
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Co...	ORPHA:32960
Dextrocardia	Meckel diverticulum, Abnormality of abdominal situs, Pancreatic hypoplasia, Intestinal malrotatio...	ORPHA:1666
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Hepatitis, Increased circulating IgE level, Leukocytosis, Autoimmune ...	OMIM:620565
Rhabdoid Tumor	Anemia, Neoplasm of the liver, Lymphadenopathy, Thrombocytopenia	ORPHA:69077
Ataxia-Telangiectasia	Lymphopenia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus	ORPHA:100
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Microdontia, Thin upper lip vermilion, Everted lower lip vermilion, Hi...	OMIM:619736
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Gastroesophageal reflux, Downturned corners of mouth, Widely spaced teeth, Open mouth, Advanced e...	OMIM:617865
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Common Variable Immunodeficiency	Lymphopenia, Abnormality of the liver, Decreased circulating antibody level, Splenomegaly, Lympha...	ORPHA:1572
Polycythemia Vera	Gastrointestinal hemorrhage, Increased hematocrit, Leukocytosis, Splenomegaly, Increased red bloo...	OMIM:263300
Isolated Biliary Atresia	Periportal fibrosis, Decreased liver function, Cholestasis, Atretic gallbladder, Hypopituitarism,...	ORPHA:30391
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos...	ORPHA:90038
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Medullary Thyroid Carcinoma	Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Nodular goiter...	ORPHA:1332
Fryns Syndrome	Gastroesophageal reflux, Non-midline cleft of the upper lip, Long philtrum, Intestinal malrotatio...	ORPHA:2059
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Hypodontia, Intermittent diarrhea, Feeding difficulties	OMIM:620270
Neuroendocrine Tumor Of The Rectum	Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Lack of bowel sounds, Tenesmus, Protracted diarrhea, Anorexia, Hypoactive bowel sou...	ORPHA:100082
Trigonocephaly 1	High, narrow palate, Meckel diverticulum, Long philtrum	OMIM:190440
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepato...	ORPHA:457077
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Congenital Sucrase-Isomaltase Deficiency	Diarrhea, Vomiting, Gastroesophageal reflux, Abdominal colic, Nausea, Constipation, Abdominal dis...	ORPHA:35122
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hemophagocytosis, Decreased liver function, Reduced natural killer cel...	ORPHA:540
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Supernumerary tooth	OMIM:619718
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Eec Syndrome	Carious teeth, Xerostomia, Tooth agenesis, Decreased response to growth hormone stimulation test,...	ORPHA:1896
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos...	OMIM:301000
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Diarrhea, Carious teeth, Periodontitis, Xanthelasma, Hepatic...	ORPHA:79259
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption	OMIM:606893
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Bifid uvula, Tooth malposition, Failure of eruption of permanent teeth, Cryptorchidism, Submucous...	ORPHA:2250
Specific Granule Deficiency 2	Tooth malposition, Intractable diarrhea, Conical tooth, Absent neutrophil specific granules, Amel...	OMIM:617475
Silver-Russell Syndrome	Gastroesophageal reflux, Failure to thrive in infancy, Postnatal growth retardation, Intrauterine...	ORPHA:813
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Lymphadenopathy, Thrombocytopenia, Neutrophili...	OMIM:619644
Apc-Related Attenuated Familial Adenomatous Polyposis	Gastrointestinal carcinoma, Adenomatous colonic polyposis, Duodenal adenocarcinoma, Duodenal poly...	ORPHA:247806
Ileal Neuroendocrine Tumor	Hepatic failure, Intestinal fistula, Zollinger-Ellison syndrome, Small intestine carcinoid, Episo...	ORPHA:100078
Neuroendocrine Tumor Of Stomach	Hepatic failure, Lack of bowel sounds, Protracted diarrhea, Anorexia, Chronic noninfectious lymph...	ORPHA:100075
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ...	ORPHA:49042
Bent Bone Dysplasia Syndrome 1	Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Malar flattening	OMIM:614592
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Emanuel Syndrome	Broad jaw, Bifid uvula, Tooth malposition, Gastroesophageal reflux, Submucous cleft lip, Delayed ...	ORPHA:96170
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa...	ORPHA:888
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Slender build, Gastrointestinal dysmotility, ...	OMIM:603041
Dubowitz Syndrome	Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Velopharyngeal insuffi...	OMIM:223370
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Delayed eruption of permanent teeth, Exaggerated cupid's bow, Thick vermilion border, Wide mouth,...	OMIM:618506
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Hilar lymph node enlargement, Cholestasis, Leukocytosis, Thin ...	OMIM:620233
Hemochromatosis, Type 3	Anemia, Lymphopenia, Cirrhosis, Neutropenia	OMIM:604250
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi...	OMIM:174900
Porphyria Due To Ala Dehydratase Deficiency	Diarrhea, Increased fecal coproporphyrin 3, Nausea, Abnormal erythrocyte enzyme concentration or ...	ORPHA:100924
Mosaic Variegated Aneuploidy Syndrome 1	Long philtrum, Micrognathia, Cryptorchidism, Malar flattening, Triangular mouth, Feeding difficul...	OMIM:257300
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombocytosis,...	OMIM:615934
Undifferentiated Pleomorphic Sarcoma	Weight loss, Abnormal peritoneum morphology	ORPHA:2023
Inflammatory Pseudotumor Of The Liver	Biliary tract abnormality, Neoplasm of the liver, Cirrhosis, Weight loss, Abnormal liver sonography	ORPHA:90003
Neuroendocrine Tumor Of The Colon	Melena, Lack of bowel sounds, Protracted diarrhea, Hypoactive bowel sounds, Chronic noninfectious...	ORPHA:100080
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Autosomal Recessive Polycystic Kidney Disease	Cholestasis, Hepatosplenomegaly, Hypersplenism, Micrognathia, Congenital hepatic fibrosis, Hepato...	ORPHA:731
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis	OMIM:200100
Colonic Atresia	Peptic ulcer, Abdominal situs inversus, Colonic atresia, Abnormal mesentery morphology, Duodenal ...	ORPHA:1198
Miller-Dieker Lissencephaly Syndrome	Lissencephaly, Delayed eruption of teeth, Pachygyria, Thick upper lip vermilion, Micrognathia, Cr...	OMIM:247200
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Hepatic amyloidosis, Cervical lymphadenopathy, Chronic con...	OMIM:142680
Jacobsen Syndrome	Bone marrow hypocellularity, Annular pancreas, Long philtrum, Intestinal malrotation, Cryptorchid...	ORPHA:2308
Myelofibrosis	Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di...	OMIM:254450
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Diarrhea, Vomiting, Splenomegaly, Polycystic ovaries, Nausea, Anemia, Cirrhosis...	ORPHA:79240
Carcinoid Syndrome	Lack of bowel sounds, Protracted diarrhea, Hepatic necrosis, Chronic noninfectious lymphadenopath...	ORPHA:100093
Igg4-Related Kidney Disease	Lymphadenitis, Decreased liver function, Abnormal mesentery morphology, Increased circulating IgE...	ORPHA:449395
Duodenal Atresia	Annular pancreas, Duodenal atresia, Abnormality of the pancreas	ORPHA:1203
Mednik Syndrome	Hepatic fibrosis, Microcolon, Diarrhea, Volvulus, Cholestasis, Jejunal atresia, Neonatal death, C...	OMIM:609313
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Failure to thrive in infancy, Intrauterine growth retardation, Cachexia	OMIM:616801
Adrenomyodystrophy	Abnormal intestine morphology, Short stature, Hepatic steatosis, Failure to thrive	ORPHA:977
Benign Recurrent Intrahepatic Cholestasis	Cholestatic liver disease, Cholelithiasis, Cirrhosis, Pancreatitis, Weight loss, Acholic stools, ...	ORPHA:65682
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Cervical lymph...	OMIM:617718
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Gastroesophageal reflux, Downturned corners of mouth, Delayed eruption of ...	OMIM:135500
Aarskog-Scott Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of teeth, Long philtrum...	ORPHA:915
Fanconi Anemia, Complementation Group B	Aplastic anemia, Tracheoesophageal fistula, Esophageal atresia, Thrombocytopenia, Duodenal atresia	OMIM:300514
Grfoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97261
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Feeding diffic...	ORPHA:534
Cholestasis, Progressive Familial Intrahepatic, 3	Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Malabsorption, Splenome...	OMIM:602347
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Lymphopenia, Decreased circula...	OMIM:208900
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Tooth malposition, Open mouth, Cryptorchidism, Dysphagia, Bowel incontinence, Polymicrogyria, Per...	ORPHA:261552
Pulmonary Blastoma	Weight loss	ORPHA:64741
Caroli Disease	Intrahepatic cholestasis, Cholelithiasis, Hepatic fibrosis, Biliary cirrhosis, Vomiting, Cholesta...	ORPHA:53035
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Sclerosing cholangitis,...	ORPHA:64744
Lead Poisoning	Vomiting, Abdominal distention, Delayed eruption of teeth, Imbalanced hemoglobin synthesis, Incre...	ORPHA:330015
Sarcoidosis	Hepatic failure, Decreased liver function, Abnormal lymph node morphology, Parotitis, Leukopenia,...	ORPHA:797
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233710
Castleman Disease	Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, Abdominal pain, Generalized ...	ORPHA:160
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy...	OMIM:611376
Carpenter Syndrome 1	Hypoplasia of the maxilla, Polysplenia, Agenesis of permanent teeth, Persistence of primary teeth...	OMIM:201000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Delayed eruption of teeth, Macrodontia, Taurodontia, Short philtrum	ORPHA:3214
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cachexia, Hepatic steatosis	ORPHA:42
Rapadilino Syndrome	High, narrow palate, Diarrhea, Feeding difficulties, High palate, Cleft palate	OMIM:266280
Papa Syndrome	Lymphadenopathy, Increased circulating antibody level	ORPHA:69126
Snakebite Envenomation	Gingival bleeding, Diarrhea, Vomiting, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopitui...	ORPHA:449285
Klatskin Tumor	Weight loss, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Micrognathia, Narrow mouth, High palate	OMIM:613849
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Short stature, Celiac disease, Delayed puberty, Postnatal growth retardation	OMIM:618985
Brachycephaly, Trichomegaly, And Developmental Delay	Bifid uvula, Thick lower lip vermilion, Open mouth, Submucous cleft hard palate, Thin vermilion b...	OMIM:617412
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Anemia, Lymphadenopath...	ORPHA:47612
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Cryptorchidism, Feedin...	OMIM:619797
Spermatogenic Failure 81	Reduced progressive sperm motility, Multiple non-erupting secondary teeth	OMIM:620277
Cinca Syndrome	Leukocytosis, Splenomegaly, Anemia, Lymphadenopathy, Hepatomegaly, Abnormality of neutrophils, Ab...	ORPHA:1451
Agammaglobulinemia 1, Autosomal Recessive	Panhypogammaglobulinemia, Chronic diarrhea, Recurrent sinusitis, Agammaglobulinemia, B lymphocyto...	OMIM:601495
Dubowitz Syndrome	Abnormality of the dentition, Anal stenosis, Delayed eruption of teeth, Malabsorption, Micrognath...	ORPHA:235
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Carious teeth, Enlarged platelet dens...	OMIM:608233
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Leukopenia, Leukocyto...	OMIM:615688
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis, Rectal ab...	OMIM:233690
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati...	ORPHA:436252
Kleefstra Syndrome	Gastroesophageal reflux, Downturned corners of mouth, Delayed eruption of teeth, Supernumerary ni...	ORPHA:261494
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Bile Acid Synthesis Defect, Congenital, 4	Intrahepatic cholestasis, Giant cell hepatitis, Hematochezia, Hepatic failure, Hepatomegaly, Prol...	OMIM:214950
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemophagocytosis, Reduced natural killer cell activity, Pancytopenia, Hepatosplenomegaly, Leukope...	OMIM:603553
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Pheochromocytoma, Nausea and vomiting, Gastrointestinal st...	ORPHA:139411
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Decreased circulating IgG level, Ex...	OMIM:620005
Alg8-Cdg	Diarrhea, Vomiting, Abnormality of the gastrointestinal tract, Thrombocytopenia, Anemia, Macroglo...	ORPHA:79325
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ...	ORPHA:75564
Tremor-Ataxia-Central Hypomyelination Syndrome	Hypodontia, Dysphagia, Delayed eruption of teeth, Oligodontia	ORPHA:447896
Acrofacial Dysostosis, Palagonia Type	High, narrow palate, Unilateral cleft lip, Micrognathia, Malar flattening, Oligodontia, Supernume...	ORPHA:1787
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Sp...	ORPHA:2072
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Malar flattening, Abnor...	ORPHA:2769
Porphyria, Acute Intermittent	Diarrhea, Vomiting, Paralytic ileus, Nausea, Constipation, Reduced erythrocyte porphobilinogen de...	OMIM:176000
Acrootoocular Syndrome	High, narrow palate, Dental malocclusion, Delayed eruption of teeth, Decreased response to growth...	ORPHA:2980
Hypocalcemic Vitamin D-Dependent Rickets	Hypochromic anemia, Delayed eruption of teeth, Leukocytosis, Splenomegaly, Enamel hypoplasia, Pro...	ORPHA:289157
Duplication Of The Pituitary Gland	Volvulus, Retrognathia, Supernumerary tooth, Wide mouth, Cleft palate, Abnormal pituitary gland m...	ORPHA:314621
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Cholestasis, Progressive Familial Intrahepatic, 9	Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Diarrhea, Micronodular cirrho...	OMIM:619849
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Delayed eruption of teeth, Increased circulating IgE level, Eosinop...	ORPHA:2314
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Nausea and vomiting, Macrocytic anemia...	ORPHA:199299
Insulin-Resistance Syndrome Type B	Biliary cirrhosis, Leukopenia, Polycystic ovaries, Enlarged polycystic ovaries, Increased circula...	ORPHA:2298
Acrocephalopolydactylous Dysplasia	Hepatic fibrosis, Polysplenia, Hypoplastic colon, Pancreatic fibrosis, Hepatomegaly, Hypoplasia o...	OMIM:200995
Maternal Uniparental Disomy Of Chromosome 4	Diarrhea, Malnutrition, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, Fat...	ORPHA:96180
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Hypodontia, High palate	OMIM:612350
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Cleft palate, Enamel hypoplasia	OMIM:272460
Immunodeficiency 33	Conical tooth, Delayed eruption of teeth, Hypodontia, Increased circulating IgA level, Decreased ...	OMIM:300636
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Vomiting, Chapped lip, Splenomegaly...	ORPHA:707
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Dermatitis Herpetiformis	Dental enamel pits, Delayed eruption of teeth, Microcytic anemia, Erosion of oral mucosa, Malabso...	ORPHA:1656
Chromosome 13Q33-Q34 Deletion Syndrome	Cleft lip, Delayed eruption of teeth, Anteriorly placed anus, Gingival overgrowth, Open mouth, Cr...	OMIM:619148
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Radiation Proctitis	Hematochezia, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, Abdominal p...	ORPHA:70475
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Duodena...	OMIM:619227
Malakoplakia	Diarrhea, Neoplasm of the colon, Follicular hyperplasia, Orchitis, Neoplasm of the rectum, Abdomi...	ORPHA:556
Nijmegen Breakage Syndrome	Anal stenosis, Diarrhea, Cleft upper lip, Malar prominence, Recurrent infection of the gastrointe...	OMIM:251260
Mevalonic Aciduria	Diarrhea, Vomiting, Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Fluctuating hepat...	OMIM:610377
Leukocyte Adhesion Deficiency, Type I	Periodontitis, Leukocytosis, Rectal abscess, Gingivitis, Chronic diarrhea	OMIM:116920
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia	OMIM:619693
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Menke-Hennekam Syndrome 2	Agenesis of permanent teeth, Micrognathia, Chronic constipation, Thin upper lip vermilion, Deep p...	OMIM:618333
Congenital Disorder Of Glycosylation, Type Iiw	Gastroesophageal reflux, Vomiting, Increased hepatic echogenicity, Microcytic anemia, Ankylogloss...	OMIM:619525
Rett Syndrome	Short stature, Cachexia, Gastroesophageal reflux	OMIM:312750
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He...	ORPHA:480520
Sotos Syndrome	High, narrow palate, Gastroesophageal reflux, Cryptorchidism, Narrow jaw, Advanced eruption of te...	OMIM:117550
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Delayed eruption of teeth, Hypo...	ORPHA:1452
Blau Syndrome	Xerostomia, Abnormality of the liver, Splenomegaly, Lymphadenopathy, Anemia, Abnormal salivary gl...	ORPHA:90340
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Anemia, Abnormal dense gra...	OMIM:214500
Ppoma	Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na...	ORPHA:97278
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Anemia, Lymphadenopathy, Thrombocytopenia, Hepatomega...	OMIM:267700
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Hepatitis, Acute hepatic failure, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Portal hyperte...	ORPHA:228426
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Bone marrow hypocellularity, Delayed eruption of teeth, Lymphopenia, Leukopenia, Gingival overgro...	ORPHA:508542
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Episodic vomiting	OMIM:272300
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hypodontia, Delayed eruption of teeth	ORPHA:63442
Trehalase Deficiency	Vomiting, Diarrhea, Malabsorption, Abdominal distention, Abdominal pain	ORPHA:103909
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Wide mouth, Duodenal atresia	OMIM:617798
Microform Holoprosencephaly	Panhypopituitarism, Tented upper lip vermilion, Solitary median maxillary central incisor, Orofac...	ORPHA:280200
Orofaciodigital Syndrome I	Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Gray matter heterotopia, Hamartoma of to...	OMIM:311200
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Rothmund-Thomson Syndrome	Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Delayed eruptio...	ORPHA:2909
Primary Hepatic Neuroendocrine Carcinoma	Diarrhea, Abdominal distention, Anorexia, Chronic noninfectious lymphadenopathy, Hepatic cysts, I...	ORPHA:100085
Esophageal Atresia	Barrett esophagus, Gastrointestinal carcinoma, Gastroesophageal reflux, Vomiting, Cleft lip, Inte...	ORPHA:1199
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Natal tooth, Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia	OMIM:614381
Rothmund-Thomson Syndrome Type 1	Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Nasogastric tub...	ORPHA:221008
Acute Myelomonocytic Leukemia	Leukocytosis, Eosinophilia, Weight loss, Thrombocytopenia, Anemia	ORPHA:517
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Anti-Glomerular Basement Membrane Disease	Anemia, Persistence of primary teeth	ORPHA:375
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Hydrocele testis, Feeding difficulties	OMIM:618154
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Micrognathia, Cryptorchidism, Hyper...	OMIM:618183
Rothmund-Thomson Syndrome Type 2	Abnormality of the dentition, Diarrhea, Aplastic anemia, Vomiting, Carious teeth, Nasogastric tub...	ORPHA:221016
Zollinger-Ellison Syndrome	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ...	ORPHA:913
Brunner Syndrome	Diarrhea	OMIM:300615
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Agenesis of permanent teeth,...	OMIM:268400
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Short stature, Severe failure to thrive, Intrauterine growth retardation, Cachexia	ORPHA:371364
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Intestinal polyposis, Cachexia, Short stature, Narrow palate...	ORPHA:109
Kleefstra Syndrome 1	Gastroesophageal reflux, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchi...	OMIM:610253
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Micrognathia, Duodenal stenosis	ORPHA:2547
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Diarrhea, Hepatitis, Pancytopenia, Hepatic steatosis, Splenomeg...	OMIM:615846
Juvenile Polyposis Syndrome	Diarrhea, Stomach cancer, Narrow mouth, Juvenile gastrointestinal polyposis, Small intestinal pol...	ORPHA:2929
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Oral leukoplakia, ...	OMIM:224230
Cornelia De Lange Syndrome 1	High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Cleft upper lip, Widel...	OMIM:122470
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Hypodontia, Hepat...	OMIM:612132
Osteopetrosis With Renal Tubular Acidosis	Bone marrow hypocellularity, Tooth malposition, Abnormality of the dentition, Retrognathia, Thick...	ORPHA:2785
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Intractable diarrhea, Congenital pyloric atresia, Oral mucosal blisters, Enamel hypoplasia, Esoph...	OMIM:226730
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Hypoplasia of the maxilla, Delayed eruption of teeth, Thick lower lip ...	ORPHA:192
Mandibulofacial Dysostosis With Alopecia	Hypoplasia of the maxilla, Dental crowding, Micrognathia, Delayed eruption of primary teeth, Ever...	OMIM:616367
Orofacial Cleft 15	Palate fistula, Cryptorchidism, Bilateral cleft palate, Bilateral cleft lip, Agenesis of lateral ...	OMIM:616788
Kleefstra Syndrome Due To A Point Mutation	Abnormality of the dentition, Gastroesophageal reflux, Natal tooth, Thick lower lip vermilion, An...	ORPHA:261652
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Immunodeficiency 59 And Hypoglycemia	Recurrent aphthous stomatitis, Malabsorption, Micrognathia, Chronic diarrhea, Prolonged neonatal ...	OMIM:233600
Acute Promyelocytic Leukemia	Leukopenia, Pancytopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Mucopolysaccharidosis, Type Iiid	Diarrhea, Thick lower lip vermilion, Wide mouth, Splenomegaly, Thick vermilion border, Hepatomega...	OMIM:252940
Diarrhea 6	Abdominal pain, Chronic diarrhea, Meteorism, Crohn's disease	OMIM:614616
Neuronal Intestinal Pseudoobstruction	Decreased circulating antibody level, Natal tooth, Malabsorption	ORPHA:99811
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Long philtrum, Micrognathia, Long upper lip, High palate, Supernume...	ORPHA:77258
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Gastroesophageal reflux, Decreased circulating total IgG, Diar...	ORPHA:221139
Den Hoed-De Boer-Voisin Syndrome	Carious teeth, Gastroesophageal reflux, Yellow-brown discoloration of the teeth, Delayed eruption...	OMIM:619229
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia	ORPHA:1933
Sandhoff Disease, Juvenile Form	Diarrhea, Dysphagia, Constipation	ORPHA:309162
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Hamartoma of tongue, Peg-shaped maxillary lateral inci...	ORPHA:2751
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Long philtrum, Micrognath...	ORPHA:96149
Nijmegen Breakage Syndrome	Anal stenosis, Acute leukemia, Autoimmune hemolytic anemia, Cachexia, Anal atresia, Thrombocytope...	ORPHA:647
19Q13.11 Microdeletion Syndrome	Failure to thrive, Supernumerary nipple, Intrauterine growth retardation, Cryptorchidism, Cachexi...	ORPHA:217346
Apert Syndrome	Bifid uvula, Hypoplasia of the maxilla, Delayed eruption of teeth, Ectopic anus, Feeding difficul...	ORPHA:87
Orofaciodigital Syndrome Ii	Hypoplasia of the maxilla, Micrognathia, Accessory oral frenulum, Agenesis of central incisor, Ma...	OMIM:252100
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Delayed eruption of teeth, Retrognathia, Impacted tooth, Ankyloglossia, Persiste...	ORPHA:740
Microsporidiosis	Lymphadenitis, Hepatitis, Abnormality of the parathyroid gland, Abnormality of the spleen, Decrea...	ORPHA:2552
Laron Syndrome	Delayed eruption of teeth, Tooth agenesis, Micrognathia, Microdontia, Hypercholesterolemia	ORPHA:633
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Diarrhea, Splenomegaly	OMIM:252920
Adult-Onset Still Disease	Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Anemia, Generalized lymphaden...	ORPHA:829
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Micrognathia, Achalasia	ORPHA:929
Immunodeficiency 46	Chronic diarrhea, Neutropenia, Anemia, Decreased circulating antibody level, Intermittent thrombo...	OMIM:616740
Kilquist Syndrome	Mandibular prognathia, Gastroesophageal reflux, Xerostomia, Intestinal malrotation, Chronic const...	OMIM:619080
Polycythemia Vera	Early satiety, Gingival bleeding, Acute leukemia, Gastrointestinal hemorrhage, Polycythemia, Leuk...	ORPHA:729
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Oculodentodigital Dysplasia	Broad alveolar ridges, Carious teeth, Tooth agenesis, Abnormal dental enamel morphology, Prematur...	ORPHA:2710
Mucopolysaccharidosis, Type Vi	Carious teeth, Delayed eruption of teeth, Splenomegaly, Chronic constipation, Hepatomegaly, Macro...	OMIM:253200
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Lig4 Syndrome	Acute leukemia, Pancytopenia, Malabsorption, Leukocytosis, Cryptorchidism, Micrognathia, Lymphade...	ORPHA:99812
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Abnormality of canine, Intestinal bleeding, Long philtrum, Thick upper lip vermilion, Adenomatous...	ORPHA:261584
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Abnormal dental enamel morphology, Hepatic failure, Supernumerary tooth, Enamel hypoplasia	ORPHA:3196
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Hypochromic anemia, Anoperineal fistula, Increased circulating IgE level, Leukocytosis, Pancoliti...	OMIM:618213
Lynch Syndrome	Gastrointestinal hemorrhage, Adenoma sebaceum, Pituitary adenoma, Pancreatic adenocarcinoma, Mala...	ORPHA:144
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Thick vermilion border, Sh...	ORPHA:137834
Arthrogryposis, Distal, Type 12	Dental crowding, Cryptorchidism, High palate, Hydrocele testis, Agenesis of maxillary incisor	OMIM:620545
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Abdominal pain	ORPHA:36412
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Delayed eruption of teeth, Widely spaced teeth, Gingival...	OMIM:301072
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Cleft mandible, Tented upper lip vermilion, Agenesis of cent...	ORPHA:364577
Cog8-Cdg	Protein-losing enteropathy, Failure to thrive	ORPHA:95428
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Metachromatic Leukodystrophy	Abnormal stomach morphology, Gastrostomy tube feeding in infancy, Abnormal duodenum morphology, A...	ORPHA:512
Mucopolysaccharidosis, Type Iiia	Hepatomegaly, Diarrhea, Splenomegaly	OMIM:252900
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Micrognathia, Biliary atres...	OMIM:115470
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Decreased testicular size, Splenomegaly, Hepatomegaly, Poor a...	OMIM:201100
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Tooth agenesis, Abnormal dent...	ORPHA:1028
Oculodentodigital Dysplasia	Carious teeth, Selective tooth agenesis, Cleft upper lip, Microdontia, Taurodontia, Enamel hypopl...	OMIM:164200
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Micrognathia, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Advanced eruption of teeth, Pa...	ORPHA:280365
Idiopathic Hypereosinophilic Syndrome	Hepatosplenomegaly, Thrombocytosis, Feeding difficulties in infancy, Abdominal distention, Neutro...	ORPHA:3260
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Dysphagia, Thrombocytopenia	OMIM:615750
Mednik Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis	ORPHA:171851
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Duodenal polyposis, Multiple gastric polyps, Small intestinal polyposis, Adenomatou...	ORPHA:329971
Tetrasomy 18P	Long philtrum, Narrow mouth, Abnormality of neuronal migration, Achalasia, Thin vermilion border	ORPHA:3307
X-Linked Hypohidrotic Ectodermal Dysplasia	Everted upper lip vermilion, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion,...	ORPHA:181
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Mosaic Variegated Aneuploidy Syndrome	Stomach cancer, Intestinal polyposis, Micrognathia, Acute lymphoblastic leukemia, Duodenal atresi...	ORPHA:1052
Cerebrooculofacioskeletal Syndrome 1	Carious teeth, Delayed eruption of teeth, Long philtrum, Micrognathia, Cryptorchidism, Thin vermi...	OMIM:214150
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Reduced natural killer cell activity, Defective T c...	OMIM:614493
Thrombotic Thrombocytopenic Purpura	Diarrhea, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Abdominal pain	ORPHA:54057
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Gastroesophageal reflux, Annular pancreas, Cleft lip, Furrowed tongue, Mic...	OMIM:616975
Focal Dermal Hypoplasia	Abnormality of the dentition, Gastroesophageal reflux, Tooth agenesis, Acute hepatic failure, Ope...	ORPHA:2092
Intellectual Developmental Disorder, Autosomal Dominant 54	Gastroesophageal reflux, Dental crowding, Widely spaced teeth, Chronic constipation, Delayed erup...	OMIM:617799
Disabling Pansclerotic Morphea Of Childhood	Lymphopenia, Neutropenia	OMIM:620443
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Retrognathia, Long philtrum, Micrognathia, Cryptorchidism, Abnormality of de...	ORPHA:96092
Duodenal Atresia	Duodenal atresia	OMIM:223400
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Hemolytic anemia, S...	ORPHA:809
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypodontia, Delayed eruption of teeth	ORPHA:1816
Chops Syndrome	High, narrow palate, Gastroesophageal reflux, Downturned corners of mouth, Long philtrum, Gastrop...	OMIM:616368
Multiple Endocrine Neoplasia Type 1	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary thyro...	ORPHA:652
Three M Syndrome 2	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Malar flattening, Thick vermilion ...	OMIM:612921
Plasminogen Deficiency, Type I	Gingivitis, Duodenal ulcer, Periodontitis, Gingival overgrowth	OMIM:217090
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Vomiting, Microretrognathia, Polysplenia, Exocrine p...	OMIM:619418
Cockayne Syndrome Type 2	Widely spaced primary teeth, Hypoplasia of the primary teeth, Cryptorchidism, Delayed eruption of...	ORPHA:90322
Trisomy 18	Intrauterine growth retardation, Cryptorchidism, Cachexia, Anal atresia, Esophageal atresia, Shor...	ORPHA:3380
X-Linked Intellectual Disability, Cabezas Type	Decreased testicular size, Obesity, Cachexia, Short stature, High palate	ORPHA:85293
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Fusariosis	Granuloma, Brain abscess, Abnormality of the spleen, Lymphopenia, Abnormality of the liver, Perit...	ORPHA:228119
Acrocallosal Syndrome	Everted upper lip vermilion, Narrow mouth, Protruding tongue, Cryptorchidism, Open mouth, Alveola...	OMIM:200990
Immunodeficiency 56	Hepatic failure, Panhypogammaglobulinemia, Recurrent infection of the gastrointestinal tract, Rec...	OMIM:615207
Congenital-Onset Steinert Myotonic Dystrophy	Diarrhea, Gastroesophageal reflux, Encopresis, Tented upper lip vermilion, Constipation, Abdomina...	ORPHA:589821
Infection-Related Hemolytic Uremic Syndrome	Diarrhea, Brain abscess, Vomiting, Secretory diarrhea, Bloody diarrhea, Gastrointestinal infarcti...	ORPHA:544482
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth	ORPHA:71267
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Granuloma, Impaired oxidative burst, Splenomegaly, Lymphadenopathy, Granulomatosis...	OMIM:306400
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Micrognathia, Carious teeth, Hypoplasia of the zygomatic bone, Supernumerary tooth	ORPHA:3145
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Advanced eruption of teeth, High palate, Mandibular prognathia	OMIM:262190
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Codas Syndrome	Abnormal dental enamel morphology, Abnormal dental morphology, Delayed eruption of teeth, Extrahe...	ORPHA:1458
Craniolenticulosutural Dysplasia	Bifid uvula, Carious teeth, Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Wi...	OMIM:607812
Houge-Janssens Syndrome 1	Chronic diarrhea, Open mouth, Pyloric stenosis	OMIM:616355
Complement Component 4B Deficiency	Chronic diarrhea, Recurrent sinusitis, Chronic active hepatitis	OMIM:614379
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Increased circulating prolactin concentration, Constipation, D...	ORPHA:35708
Amyotrophic Lateral Sclerosis	Tongue atrophy, Cachexia, Xerostomia, Dysphagia	ORPHA:803
Multiple Endocrine Neoplasia Type 2	Thyroid C cell hyperplasia, Diarrhea, Abnormal tongue morphology, Cervical lymphadenopathy, Gangl...	ORPHA:653
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Normocytic anemia, Decreased circu...	OMIM:300972
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth, M...	ORPHA:50814
Acute Generalized Exanthematous Pustulosis	Cholestasis, Leukocytosis, Eosinophilia, Lymphadenopathy, Neutropenia, Neutrophilia	ORPHA:293173
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Open mouth, Sho...	OMIM:615866
Wilson Disease	Hepatitis, Failure to thrive, Acute hepatitis, Hepatic steatosis, Splenomegaly, Increased body we...	ORPHA:905
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy	ORPHA:100084
Pediatric-Onset Graves Disease	Diarrhea, Goiter, Nausea and vomiting, Splenomegaly, Thrombocytopenia, Neutropenia in presence of...	ORPHA:525731
Sandhoff Disease	Hepatosplenomegaly, Episodic abdominal pain, Hepatomegaly, Macroglossia, Chronic diarrhea	OMIM:268800
Omphalocele Syndrome, Shprintzen-Goldberg Type	Gastroesophageal reflux, Downturned corners of mouth, Hypoplasia of the pharynx, Thin upper lip v...	ORPHA:3164
Mosaic Variegated Aneuploidy Syndrome 2	Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth, Duodenal atresia	OMIM:614114
Wiskott-Aldrich Syndrome	Gingival bleeding, Hematochezia, Abnormal eosinophil morphology, Acute leukemia, Inflammation of ...	ORPHA:906
Beta-Thalassemia Intermedia	Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Increased HbA2 hemoglo...	ORPHA:231222
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Hypodontia, Amelogenesis imperfecta, Delayed eruption of teeth	OMIM:615905
Infantile Krabbe Disease	Cachexia, Gastroesophageal reflux, Failure to thrive	ORPHA:206436
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Cleft lip, Microretrognathia, Long philtrum, Abnormal mesentery morph...	ORPHA:2953
Sickle Cell Anemia	Splenic infarction, Cholelithiasis, Hypochromic anemia, Pigment gallstones, Increased mean corpus...	ORPHA:232
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Pachyonychia Congenita	Natal tooth, Oral leukoplakia, Angular cheilitis, Advanced eruption of teeth, Feeding difficulties	ORPHA:2309
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Extramedullary hematopoiesis, Hepatosplenomegaly, Micrognathia, Gingival overgrowth	ORPHA:313855
Smith-Lemli-Opitz Syndrome	Gastroesophageal reflux, Microglossia, Long philtrum, Tooth agenesis, Abnormal dental enamel morp...	ORPHA:818
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia	ORPHA:702
Tarp Syndrome	Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Alveolar ridge overgrowth, Abnormal d...	ORPHA:2886
Osteopathia Striata With Cranial Sclerosis	Bifid uvula, Anal stenosis, Gastroesophageal reflux, Natal tooth, Dental malocclusion, Dental cro...	OMIM:300373
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the dentition, Supernumerary tooth, Oligodontia	ORPHA:1264
Vici Syndrome	Cutaneous anergy, Decreased circulating IgG level, Lymphopenia, Leukopenia, Decreased proportion ...	OMIM:242840
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Open mouth, Narrow mouth, Microdontia, Delayed eruption of permanent teeth	OMIM:619356
Craniometadiaphyseal Dysplasia	Carious teeth, Dental crowding, Natal tooth, Absent paranasal sinuses, Malar flattening, Microdon...	OMIM:269300
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Anorexia, Neutrophilia, Abdominal...	ORPHA:99827
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Vomiting, Diarrhea, Megaloblastic anemia, Neutropenia, Jaundice, Feeding difficulties	OMIM:250940
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Pancreatitis, ...	ORPHA:36426
W Syndrome	Agenesis of maxillary central incisor, Upper lip pit, Broad uvula, Submucous cleft hard palate	ORPHA:2804
Irida Syndrome	Abnormal intestine morphology, Intrahepatic cholestasis	ORPHA:209981
Serkal Syndrome	Malrotation of small bowel, Orofacial cleft	ORPHA:139466
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Megaloblastic anemia, Thrombocytopenia, Anorexia	ORPHA:49827
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Secretory diarrhea, Intestinal malrotation, Abdominal distention, Anal atresia, Rectovaginal fist...	OMIM:270420
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Natal tooth, Abdominal situs inversus, Microgn...	ORPHA:2108
Scedosporiosis	Abnormal jejunum morphology, Sinusitis	ORPHA:449280
Relapsing Fever	Diarrhea, Vomiting, Leukopenia, Leukocytosis, Abdominal pain, Thrombocytopenia, Neutrophilia, Ane...	ORPHA:91547
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Mgat2-Cdg	Decreased circulating IgG level, Gastroesophageal reflux, Dental crowding, Gastroparesis, Open mo...	ORPHA:79329
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Micrognathia, Micro...	OMIM:190350
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Iron deficiency anemia, Impaired platelet aggregation, Duodenal ulcer, Gastric ulcer, Esophageal ...	OMIM:618372
Microphthalmia, Syndromic 9	Multilobulated spleen, Hypoplastic spleen	OMIM:601186
Rat-Bite Fever	Diarrhea, Lymphadenitis, Vomiting, Parotitis, Pancreatitis, Anemia	ORPHA:31205
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Aplasia of the epiglottis, Median cleft upper lip, Hypodontia, Hepatomegaly, Supern...	OMIM:617088
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Solitary median maxillary central incisor, Hypodonti...	ORPHA:952
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Abdominal pain, Vomiting, Pancreatitis	OMIM:620137
Trichorhinophalangeal Syndrome Type 2	Abnormality of the dentition, Long philtrum, Abnormal palate morphology, Thin upper lip vermilion...	ORPHA:502
Thymic Carcinoma	Neoplasm of the thymus, Weight loss, Mediastinal lymphadenopathy	ORPHA:99868
Congenital Myopathy 20	Micrognathia, High palate, Chronic diarrhea	OMIM:620310
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Conical tooth, Absent nipple, Hypoplasia of the maxilla, Everted...	OMIM:305100
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased proportion of CD3...	ORPHA:760
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Peritonitis, Weigh...	ORPHA:679
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Lymphocytosis, Hepatitis, Lymphadenopathy	ORPHA:139402
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, Diarrhea, Thick lower lip vermilion, Pheochromocytoma, ...	OMIM:162300
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Familial Multiple Lipomatosis	Hyperlipidemia, Functional intestinal obstruction, Premature eruption of permanent teeth, Odontog...	ORPHA:199276
Pycnodysostosis	Carious teeth, Persistence of primary teeth, Micrognathia, Delayed eruption of primary teeth, Abs...	OMIM:265800
19P13.13 Microdeletion Syndrome	Macroglossia, Diarrhea, Vomiting, Functional abnormality of the gastrointestinal tract, Narrow mo...	ORPHA:357001
Oculopharyngodistal Myopathy	High, narrow palate, Oral-pharyngeal dysphagia, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Scleromyxedema	Gastroesophageal reflux, Paraproteinemia, Narrow mouth, Abnormality of the gastrointestinal tract...	ORPHA:167635
Autosomal Recessive Robinow Syndrome	Abnormality of the dentition, Downturned corners of mouth, Long philtrum, Open bite, Ankyloglossi...	ORPHA:1507
Chime Syndrome	Abnormality of the dentition, Acute leukemia, Abnormal dental morphology, Microdontia, Hypodontia...	ORPHA:3474
Pseudopseudohypoparathyroidism	Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism	OMIM:612463
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Xerostomia, Selective tooth agenesis, Cleft upper lip, ...	OMIM:129900
Dyskeratosis Congenita, Autosomal Dominant 1	Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leu...	OMIM:127550
Andersen Cardiodysrhythmic Periodic Paralysis	Hypoplasia of the maxilla, Dental crowding, Persistence of primary teeth, Micrognathia, Malar fla...	OMIM:170390
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Carious teeth, Xerostomia, Hypoplasia of the maxilla, Anteriorly placed anus, Sele...	OMIM:604292
Craniosynostosis 2	Cleft soft palate, Supernumerary tooth	OMIM:604757
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Retrognathia, Polymicrogyria, Periventricular heterotopia, Narrow mouth, Crypt...	ORPHA:468631
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Feeding difficulties	OMIM:617105
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Hereditary Angioedema Type 1	Diarrhea, Vomiting, Intestinal edema, Abdominal pain, Nausea, Abnormal soft palate morphology, Dy...	ORPHA:100050
Lassa Fever	Diarrhea, Nausea and vomiting, Abdominal pain, Jaundice, Increased circulating IgM level, Dysphagia	ORPHA:99824
Kawasaki Disease	Strawberry tongue, Diarrhea, Hepatitis, Cervical lymphadenopathy, Lip fissure, Leukocytosis, Chol...	ORPHA:2331
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormality of the dentition, Carious teeth, Yellow-brown discoloration of the teeth, Decreased n...	ORPHA:69087
Classic Galactosemia	Hepatic failure, Diarrhea, Vomiting, Cryptorchidism, Abnormal erythrocyte enzyme concentration or...	ORPHA:79239
Leukocyte Adhesion Deficiency Type Ii	Microcytic anemia, Gingival overgrowth, Leukocytosis, Protruding tongue, Recurrent gastroenteriti...	ORPHA:99843
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, T lymphocytopenia	OMIM:618223
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Gastroesophageal reflux, Carious teeth, Natal tooth, Downturned corners of mouth, Ab...	OMIM:620186
Lacrimoauriculodentodigital Syndrome	Bifid uvula, Abnormality of the dentition, Carious teeth, Xerostomia, Abnormal dental enamel morp...	ORPHA:2363
Hallermann-Streiff Syndrome	High, narrow palate, Natal tooth, Dental malocclusion, Selective tooth agenesis, Micrognathia, Na...	OMIM:234100
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Vomiting, Nasogastric tube feeding, Abnormal gastrointestinal tract morp...	ORPHA:1018
Nance-Horan Syndrome	Abnormality of the dentition, Supernumerary tooth, Mandibular prognathia	ORPHA:627
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Micrognathia, Absent gallbladder, Neonatal death, An...	OMIM:617925
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Long philtrum, Abnormal mandible morphology, Narrow mouth, Cryptorch...	ORPHA:2215
Adenocarcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Lymphadenopath...	ORPHA:424016
Hyaline Fibromatosis Syndrome	Gingival fibromatosis, Diarrhea, Gingival overgrowth	OMIM:228600
Genitopatellar Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Long philtrum, Micrognathia, Cryptorchidism, ...	ORPHA:85201
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis, Lymphadenopathy	ORPHA:2483
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb...	ORPHA:521
Hall-Riggs Syndrome	Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morphology, Nausea...	ORPHA:2107
Cockayne Syndrome Type 1	Abnormality of the dentition, Diarrhea, Widely spaced primary teeth, Hypoplasia of the primary te...	ORPHA:90321
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Diarrhea, Pituitary adenoma, Increased circulating cortisol level, Increased circul...	OMIM:131100
Addison Disease	Normocytic anemia, Thymoma, Diarrhea, Nausea and vomiting, Thiamine-responsive megaloblastic anem...	ORPHA:85138
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Vomiting, Pituitary adenoma, Adenomatous colonic polyposis, Intes...	ORPHA:99818
Osteopathia Striata-Cranial Sclerosis Syndrome	High, narrow palate, Bifid uvula, Delayed eruption of teeth, Retrognathia, Facial hyperostosis, M...	ORPHA:2780
Anal Fistula	Anoperineal fistula, Leukocytosis	ORPHA:228113
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th...	OMIM:612541
Multiple Myeloma	Splenomegaly, Increased circulating IgA level, Lymphadenopathy, Anemia, Increased circulating IgG...	ORPHA:29073
Tarp Syndrome	Hepatic failure, Meckel diverticulum, Micrognathia, Neonatal death, High palate, Glossoptosis, To...	OMIM:311900
Nance-Horan Syndrome	Supernumerary maxillary incisor, Screwdriver-shaped incisors, Diastema, Mulberry molar	OMIM:302350
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Diarrhea, Gastrointestinal infarctions, Nausea and vomiting, Periton...	ORPHA:727
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Andersen-Tawil Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Hyperaldosteronism, Per...	ORPHA:37553
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Vomiting, Bloody diarrhea, Lymphopenia, Abnormal...	ORPHA:99826
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Feeding difficulties, Bloody diarrhea	OMIM:615119
Citrullinemia Type Ii	Hepatic fibrosis, Diarrhea, Vomiting, Hyperlipidemia, Hepatic steatosis, Pancreatitis, Hyperchole...	ORPHA:247585
Visceral Myopathy, Familial, With External Ophthalmoplegia	Malnutrition, Gastroparesis, Abdominal distention, Abdominal pain, Spontaneous esophageal perfora...	OMIM:277320
Liver Disease, Severe Congenital	Diarrhea, Portal inflammation, Micrognathia, Hepatic steatosis, Abnormal hepatic echogenicity, Ab...	OMIM:619991
Thymic Neuroendocrine Tumor	Pituitary adenoma, Increased circulating prolactin concentration, Pituitary prolactin cell adenom...	ORPHA:97289
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nausea, Diarrhea, Dysphagia, Poor appetite	ORPHA:352447
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia	OMIM:620365
Odontochondrodysplasia	Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia	ORPHA:166272
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Dysphagia, Feeding difficulties	ORPHA:79101
Feingold Syndrome Type 1	Micrognathia, Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duoden...	ORPHA:391641
Glycogen Storage Disease Ixc	Postnatal growth retardation, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Hepato...	OMIM:613027
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Abnormality of the gastrointestinal tract, Leukocytosis, Weight loss	ORPHA:2902
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Diarrhea, Cholestasis, Hepatosplenomegaly, Hepatic steatosis, Anemia...	ORPHA:247598
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Abnormality of the liver, Abnormal gastrointestinal tr...	ORPHA:464321
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Natal tooth, Anteriorly placed anus, Gingival overgrowth, Narrow mouth, Malar flatte...	OMIM:123790
Fraser Syndrome 1	Abnormal cortical gyration, Dental malocclusion, Dental crowding, Cleft upper lip, Abnormal small...	OMIM:219000
Trichorhinophalangeal Syndrome, Type Iii	Dental crowding, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Supernumerary tooth	OMIM:190351
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Cryptor...	OMIM:616300
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal erythrocyte...	ORPHA:324636
Holoprosencephaly 13, X-Linked	Gastroesophageal reflux, Micrognathia, Median cleft palate, Submucous cleft hard palate, Median c...	OMIM:301043
Immunodeficiency 22	Decreased circulating IgG level, Decreased circulating IgA level, Decreased proportion of CD4-pos...	OMIM:615758
Necrotizing Enterocolitis	Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Leukocytosis, Peritonitis, Abd...	ORPHA:391673
Enteric Anendocrinosis	Cholestatic liver disease, Vomiting, Diarrhea, Malabsorption, Portal hypertension	ORPHA:83620
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Cleft soft palate, Bilateral...	OMIM:301068
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Multiple Endocrine Neoplasia Type 4	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Pituitary null ...	ORPHA:276152
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Immunodeficiency 110 With Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Neutropenia	OMIM:614868
Chronic Beryllium Disease	Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells	ORPHA:133
Camurati-Engelmann Disease	Carious teeth, Craniofacial osteosclerosis, Delayed eruption of teeth, Leukopenia, Splenomegaly, ...	ORPHA:1328
Char Syndrome	Supernumerary nipple, Agenesis of permanent teeth, Persistence of primary teeth, Malar flattening...	ORPHA:46627
Hurler Syndrome	Splenomegaly, Abnormality of the tonsils, Everted lower lip vermilion, Thick vermilion border, He...	ORPHA:93473
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Dracunculiasis	Diarrhea, Nausea and vomiting, Recurrent cutaneous abscess formation	ORPHA:231
Recon Progeroid Syndrome	Dental crowding, Prominence of the premaxilla, Smooth philtrum, Thrombocytopenia, Anemia, Delayed...	OMIM:620370
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Micrognathia, Cleft palate	ORPHA:949
Lujo Hemorrhagic Fever	Diarrhea, Vomiting, Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Nausea, Abdominal cr...	ORPHA:319213
Igg4-Related Aortitis	Hypereosinophilia, Weight loss, Intestinal obstruction	ORPHA:449400
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Vomiting, Diarrhea, Reye syndrome-like episodes, Hepatomegaly, Nausea, Feeding difficulties, Poor...	ORPHA:927
Odontotrichoungual-Digital-Palmar Syndrome	Natal tooth, Mandibular prognathia, Dental malocclusion, Thick vermilion border	OMIM:601957
Galactosemia I	Diarrhea, Vomiting, Decreased liver function, Reduced erythrocyte galactose-1-phosphate uridylylt...	OMIM:230400
Apert Syndrome	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Cryptorchidism, Malar flattening, Ec...	OMIM:101200
Aa Amyloidosis	Abnormal oral mucosa morphology, Vomiting, Malnutrition, Cholestasis, Malabsorption, Nausea, Hepa...	ORPHA:85445
Immunoglobulin Kappa Light Chain Deficiency	Absent circulating immunoglobulin kappa chain, Diarrhea, Chronic diarrhea	OMIM:614102
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusitis, Abdominal pain...	OMIM:613960
Treacher Collins Syndrome 1	Hypoplasia of the pharynx, Cleft soft palate, Narrow mouth, Cryptorchidism, Micrognathia, Malar f...	OMIM:154500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Leukopenia, Pancreatitis, Thrombocytopenia, Neutropenia, Hepatomegaly, Feedin...	OMIM:251000
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Carious teeth, Gastroesophageal reflux, Dental crowding, Natal tooth, Dental malocclusion, Intest...	ORPHA:353281
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Diarrhea, Vomiting, Polymicrogyria, Lipid accumulation in hepatocytes, Hepatic cal...	OMIM:608836
Oculodentodigital Dysplasia, Autosomal Recessive	Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxilla, Dental malocclusio...	OMIM:257850
Immunodeficiency 58	Cutaneous abscess, Recurrent aphthous stomatitis, Esophagitis, Decreased specific antibody respon...	OMIM:618131
Bronchial Neuroendocrine Tumor	Hepatic failure, Increased circulating cortisol level, Protracted diarrhea, Chronic noninfectious...	ORPHA:97287
Lysinuric Protein Intolerance	Diarrhea, Vomiting, Hemophagocytosis, Malnutrition, Leukopenia, Splenomegaly, Anemia, Pancreatiti...	OMIM:222700
Igg4-Related Pachymeningitis	Lymphadenitis, Parotitis, Increased circulating IgG4 level, Eosinophilia, Pancreatitis, Sinusitis...	ORPHA:449427
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Hypoplastic sweat glands, Short philtrum, Natal tooth, Cleft palate	OMIM:617337
Kabuki Syndrome 2	Natal tooth, Dental malocclusion, Micrognathia, Lower lip pit, Hypodontia, Feeding difficulties i...	OMIM:300867
Anterior Cutaneous Nerve Entrapment Syndrome	Abdominal distention, Recurrent infection of the gastrointestinal tract, Leukocytosis, Nausea, An...	ORPHA:51890
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Microcolon, Intestinal malrotation, Nausea and vomiting, Cryptorchidism, Abnormality of the gastr...	ORPHA:2241
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormality of the dentition, Abnormal dental enamel morphology	ORPHA:3220
Diarrhea 13	Vomiting, Secretory diarrhea, Hepatic steatosis	OMIM:620357
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Dental crowding, Delayed eruption of teeth, Micrognathia, Elliptocytosis, Narrow mou...	OMIM:300990
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi...	ORPHA:100086
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Achalasia, Narrow mouth	ORPHA:436174
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Anemia, Diarrhea, Nausea and vomiting	ORPHA:1842
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Codas Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Cryptorchidism, Enamel hypoplasia, Anal atres...	OMIM:600373
Cystic Echinococcosis	Cholestatic liver disease, Peritoneal abscess, Abnormality of the testis size, Hepatic cysts, Spl...	ORPHA:400
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Severe B lymphocytopenia, Abnormal lymphocyte morphology, Autoimmune thrombocytopenia, Decreased ...	ORPHA:293978
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Hepatic steatosis, Cryptorchidi...	OMIM:210900
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Diarrhea, Hepatocellular necrosis, Hepatosplenomegaly, Elliptocy...	OMIM:618278
Cerebellar-Facial-Dental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Long philtrum, Micrognat...	ORPHA:444072
Immunodeficiency 77	Gastroparesis, Recurrent tonsillitis, Cutaneous abscess	OMIM:619223
Cleidocranial Dysplasia 1	High, narrow palate, Absent paranasal sinuses, Micrognathia, Hypoplastic frontal sinuses, Malar f...	OMIM:119600
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,...	ORPHA:79276
Takayasu Arteritis	Anemia, Gastrointestinal infarctions, Weight loss	ORPHA:3287
Helsmoortel-Van Der Aa Syndrome	Carious teeth, Ankyloglossia, Cryptorchidism, Everted lower lip vermilion, Dysphagia, High, narro...	OMIM:615873
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Gastroesophageal reflux, Retrognathia, Poor suck, Widely spaced teeth, Decreased response to grow...	ORPHA:268261
Raine Syndrome	Mandibular prognathia, Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microgn...	OMIM:259775
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon,...	ORPHA:440437
Cockayne Syndrome	Severe short stature, Gastroesophageal reflux, Postnatal growth retardation, Splenomegaly, Crypto...	ORPHA:191
Dysosteosclerosis	Natal tooth, Delayed eruption of teeth, Absent paranasal sinuses, Micrognathia, Oligodontia, Abse...	OMIM:224300
Spondyloenchondrodysplasia	Granuloma, Hepatitis, Dental malocclusion, Delayed eruption of teeth, Decreased response to growt...	ORPHA:1855
Transcobalamin Ii Deficiency	Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating IgA leve...	OMIM:275350
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Decreased circulating antibody level, Leukocytosis, Splenomegaly	OMIM:618042
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Hepatosplenomegaly, Decreased circulating antibody level, Leukocytosis, Micr...	OMIM:274000
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Micrognathia, Cryptorchidism, Hypodontia, E...	ORPHA:2745
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Incontinentia Pigmenti	Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Breast aplasia, Breast hypoplasia...	OMIM:308300
Biotinidase Deficiency	Vomiting, Diarrhea, Splenomegaly, Feeding difficulties in infancy, Hepatomegaly	OMIM:253260
Primary Sclerosing Cholangitis	Hepatic fibrosis, Cholelithiasis, Hepatitis, Cholestasis, Hepatosplenomegaly, Portal hypertension...	ORPHA:171
Holoprosencephaly 9	Anterior pituitary agenesis, Abnormal cortical gyration, Hypoplasia of the premaxilla, Dental mal...	OMIM:610829
Malonyl-Coa Decarboxylase Deficiency	Vomiting, Diarrhea, Chronic constipation, Constipation, Pachygyria, Abdominal pain	OMIM:248360
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Retrognathia, Malabsorption, Intestinal obstruction, Triangular ...	OMIM:601675
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia	OMIM:301110
Cerebellofaciodental Syndrome	Taurodontia, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchidism	OMIM:616202
Frontometaphyseal Dysplasia 1	Dental malocclusion, Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary ...	OMIM:305620
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Decreased response to growth hormone s...	OMIM:307200
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Increased circulating IgE level, Decreased ...	OMIM:243700
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Hepatosplenomegaly, Weight loss, Hemophagocytosis	ORPHA:86884
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Failure to thrive, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret...	ORPHA:35858
Diarrhea 4, Malabsorptive, Congenital	Vomiting, Diarrhea	OMIM:610370
Angioedema, Hereditary, 1	Intestinal edema, Abdominal pain, Diarrhea, Vomiting	OMIM:106100
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Elliptocytosis, Malar flattening, Thick vermilion border, Thin vermilion border, Supernumerary tooth	ORPHA:86818
Schinzel-Giedion Syndrome	Annular pancreas, Delayed eruption of teeth, Anteriorly placed anus, Retrognathia, Streak ovary, ...	ORPHA:798
Nodular Non-Suppurative Panniculitis	Hepatomegaly, Weight loss, Splenomegaly	ORPHA:33577
Q Fever	Granuloma, Hepatitis, Hepatosplenomegaly, Abnormality of the liver, Splenomegaly, Cholecystitis, ...	ORPHA:781
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Dental crowding, Micrognathia, Cryptorchidism, Chronic constipation, Thrombocytopenia, Thick verm...	OMIM:619005
Brucellosis	Hypersplenism, Anorexia, Hepatomegaly, Abdominal pain, Granuloma, Abnormality of the liver, Abnor...	ORPHA:1304
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Generalized Pseudohypoaldosteronism Type 1	Cholelithiasis, Recurrent tonsillitis, Failure to thrive in infancy, Proportionate short stature,...	ORPHA:171876
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Polymicrogyria, Hamartoma of t...	OMIM:615948
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Iniencephaly	Narrow mouth, Orofacial cleft, Mandibular aplasia, Anal atresia, Duodenal atresia, Lissencephaly	ORPHA:63259
Symptomatic Form Of Hfe-Related Hemochromatosis	Portal hypertension, Splenomegaly, Cirrhosis, Weight loss, Cholangiocarcinoma, Hepatomegaly, Test...	ORPHA:465508
Barber-Say Syndrome	Hypoplasia of the maxilla, Absent nipple, Dental malocclusion, Velopharyngeal insufficiency, Dela...	OMIM:209885
Diets-Jongmans Syndrome	Cryptorchidism, Thin upper lip vermilion, Feeding difficulties in infancy, Wide mouth, Duodenal a...	OMIM:618846
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Delayed eruption of teeth, Long philtrum	OMIM:184260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Hepatic steatosis, Chronic cons...	OMIM:619503
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Neoplasm of the stomach, Diarrhea, Increased circulating...	ORPHA:99889
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Delayed eruption of teeth, Thick lower lip vermilion, Abnormal dental morpho...	ORPHA:369950
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Immunodeficiency 23	Increased circulating IgE level, Lymphopenia, Abscess, Eosinophilia, Neutropenia, Increased circu...	OMIM:615816
Vitamin D-Dependent Rickets, Type 2A	Carious teeth, Delayed eruption of teeth, Enamel hypoplasia, Protuberant abdomen, Secondary hyper...	OMIM:277440
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Short stature, Short hard palate, Cachexia	ORPHA:1969
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Vomiting, Gastroesophageal reflux, Cryptorchidism, Posterior pituitary hypoplasia, Abnormality of...	ORPHA:464311
Psoriasis 14, Pustular	Furrowed tongue, Leukocytosis, Geographic tongue, Neutrophilia, Cholangitis	OMIM:614204
Deeah Syndrome	Narrow palate, Retrognathia, Long philtrum, Exocrine pancreatic insufficiency, Decreased response...	OMIM:619004
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Cleft lip, Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Open mouth,...	OMIM:280000
Immunodeficiency 116	Absence of CD8-positive T cells	OMIM:608957
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Yao Syndrome	Abdominal pain, Diarrhea, Xerostomia, Oral ulcer	OMIM:617321
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Anemia, Inflammation of the large intestine, Weight loss	ORPHA:324964
Pseudohypoparathyroidism Type 1B	Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response to growth ...	ORPHA:94089
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Premature loss of primary teeth, Splenomegaly, Anemia, Lymphadenopathy...	ORPHA:667
Triokinase And Fmn Cyclase Deficiency Syndrome	Microcytic anemia, Hepatic steatosis, Pancreatitis, Hepatomegaly, Chronic diarrhea	OMIM:618805
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:352665
Doors Syndrome	Short lingual frenulum, Adrenal hyperplasia, Open mouth, High palate, Gastroesophageal reflux, Do...	ORPHA:79500
Wolf-Hirschhorn Syndrome	Accessory spleen, Craniofacial asymmetry, Malrotation of small bowel, Gastroesophageal reflux, Do...	OMIM:194190
Charge Syndrome	Anal stenosis, Parathyroid hypoplasia, Aplasia/Hypoplasia of the thymus, Cleft upper lip, Decreas...	OMIM:214800
Congenital Disorder Of Glycosylation, Type It	Intrahepatic cholestasis, Bifid uvula, Vomiting, Hepatitis, Micrognathia, Hepatic steatosis, Incr...	OMIM:614921
Melas	Diarrhea, Vomiting, Intestinal pseudo-obstruction, Hypoparathyroidism, Recurrent pancreatitis, Ga...	ORPHA:550
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Gastroesophageal reflux, Cleft upper lip, Tented upper lip vermilion, Thin upper lip vermilion, A...	OMIM:600987
Pachyonychia Congenita 2	Angular cheilitis, Natal tooth, Oral leukoplakia	OMIM:167210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Widely spaced teeth, Abnormal den...	ORPHA:1071
Avian Influenza	Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leukopenia, Thrombocytopenia, Abdominal pain	ORPHA:454836
Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:1267
Vipoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Nausea and v...	ORPHA:97282
Hypoglossia-Hypodactyly Syndrome	Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognathia, Narrow mouth, J...	ORPHA:989
Riddle Syndrome	Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, Recurrent sinusitis, ...	ORPHA:420741
Dystonia-Deafness Syndrome 1	Cleft upper lip, Pseudobulbar paralysis, Achalasia, Dysphagia, Cleft palate	OMIM:607371
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Lymphopenia, Incre...	ORPHA:508533
Schwartz-Jampel Syndrome	Odontogenic neoplasm, Dental malocclusion, Testicular torsion, Pursed lips, Long philtrum, Decrea...	ORPHA:800
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Taurodontia, Hyperparathyroidism, Pulp calcification, Enamel hypoplasia	OMIM:211900
Dyrk1A-Related Intellectual Disability Syndrome	Vomiting, Gastroesophageal reflux, Breast hypoplasia, Cryptorchidism, Anterior pituitary hypoplas...	ORPHA:464306
Pallister-Hall Syndrome	Microglossia, Natal tooth, Anteriorly placed anus, Cleft upper lip, Decreased response to growth ...	OMIM:146510
Erythrokeratodermia Variabilis	Short stature, Weight loss, Abnormal testis morphology	ORPHA:317
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Supernumerary nipple, Submucous cleft hard palate, Thin upper lip vermilion, High ...	ORPHA:457279
Carnitine Deficiency, Systemic Primary	Vomiting, Diarrhea, Decreased carnitine level in liver, Microvesicular hepatic steatosis, Hepatom...	OMIM:212140
Schimke Immunoosseous Dysplasia	Lymphopenia, Pancytopenia, Abnormal T cell morphology, Abnormal immunoglobulin level, Thrombocyto...	OMIM:242900
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Abnormality of the dentition, Acute leukemia, Delayed eruption o...	ORPHA:289
Foodborne Botulism	Diarrhea, Xerostomia, Nausea and vomiting, Constipation, Abdominal pain, Dysphagia	ORPHA:228371
Mucopolysaccharidosis Type 3	Abnormality of the dentition, Craniofacial hyperostosis, Recurrent tonsillitis, Malabsorption, Ad...	ORPHA:581
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Adnp Syndrome	Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Cryptorc...	ORPHA:404448
Listeriosis	Diarrhea, Brain abscess, Vomiting, Cholecystitis, Abscess, Nausea, Peritonitis, Abdominal pain, H...	ORPHA:533
Obesity Due To Congenital Leptin Deficiency	Decreased T cell activation, Decreased proportion of CD4-positive helper T cells	ORPHA:66628
Autosomal Dominant Robinow Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Retrognathia, Open bite, Gingiva...	ORPHA:3107
Chromosome 19P13.13 Deletion Syndrome	Vomiting, Diarrhea, Constipation, Abdominal pain, Feeding difficulties	OMIM:613638
Gm1 Gangliosidosis	Gastroesophageal reflux, Failure to thrive, Hepatosplenomegaly, Splenomegaly, Weight loss, Short ...	ORPHA:354
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Talon cusp, Gastroesophageal reflux, Carious teeth, Dental crowding, Natal tooth, Dental malocclu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Talon cusp, Gastroesophageal reflux, Carious teeth, Dental crowding, Natal tooth, Dental malocclu...	ORPHA:353277
Sickle Cell Disease	Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg...	OMIM:603903
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Smooth Muscle Dysfunction Syndrome	Intestinal malrotation, Hypoperistalsis, Dysgyria, Cryptorchidism	OMIM:613834
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism, Protuberant abdomen	OMIM:264700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Anemia, Lymphopenia, Agammaglobulinemia, Abnormality of the pancreas	ORPHA:935
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Decreased circulating antibody level, Hepatic cysts	OMIM:617425
Systemic Capillary Leak Syndrome	Diarrhea, Abdominal pain, Pancreatitis, Leukocytosis	ORPHA:188
Thymoma	Aplastic anemia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weight loss, Leukemia, Pure...	ORPHA:99867
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology	ORPHA:2847
Maculopapular Cutaneous Mastocytosis	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79457
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcytic anemia, T lymphocytopenia, Hepatic steatosis, Neoplasm of the pancreas	ORPHA:2959
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Xfe Progeroid Syndrome	Severe short stature, Cachexia, Failure to thrive	OMIM:610965
Osteogenesis Imperfecta	Dentinogenesis imperfecta, Abnormality of the dentition, Carious teeth, Dental malocclusion, Dela...	ORPHA:666
Singleton-Merten Syndrome 1	Hypoplasia of the maxilla, Carious teeth, Eruption failure, Hypoplasia of the tooth germ, Thin up...	OMIM:182250
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Gastroparesis, Abnormality of the liver, Gastroesophageal reflux, Constipation	OMIM:610131
Wiedemann-Rautenstrauch Syndrome	Hypoplastic facial bones, Natal tooth, Downturned corners of mouth, Long philtrum, Delayed erupti...	OMIM:264090
Short Syndrome	Dental malocclusion, Delayed eruption of teeth, Downturned corners of mouth, Micrognathia, Ovaria...	OMIM:269880
Trisomy 8P	Bifid uvula, Malrotation of small bowel, Annular pancreas, Retrognathia, Cryptorchidism, Aplasia/...	ORPHA:264450
Coffin-Siris Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Cryptorchidism, Thin upper lip vermilion, H...	ORPHA:1465
Mosaic Trisomy 16	Craniofacial asymmetry, Meckel diverticulum, Anteriorly placed anus, Gastrostomy tube feeding in ...	ORPHA:1708
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Orofacial cleft, Achalasia, Dysphagia	ORPHA:79107
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Tracheoesophageal fistula, Pancreatitis, Weight loss, Neutropenia, T...	ORPHA:537
Mucoepithelial Dysplasia, Hereditary	Erythematous oral mucosa, Furrowed tongue, Eosinophilia, Melena, Chronic diarrhea	OMIM:158310
Hypoplasminogenemia	Periodontitis, Abnormality of the ovary, Gingival overgrowth, Gingivitis, Duodenal ulcer	ORPHA:722
Wild Type Attr Amyloidosis	Intermittent diarrhea, Gastrointestinal dysmotility, Hepatomegaly, Chronic diarrhea, Bowel incont...	ORPHA:330001
Ivic Syndrome	Intestinal malrotation, Leukocytosis, Thrombocytopenia, Anal atresia, Rectovaginal fistula	OMIM:147750
Familial Isolated Hypoparathyroidism	Abnormal dental enamel morphology, Hypoparathyroidism, Delayed eruption of teeth	ORPHA:2238
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Severe B lymphocytopenia, Pancreatic hypoplasia, Retrognathia, Micrognathia, Narr...	ORPHA:83617
Acrodysostosis	Hypoplasia of the maxilla, Delayed eruption of teeth, Open bite, Open mouth, Cryptorchidism, Mand...	ORPHA:950
Chronic Hiccup	Weight loss	ORPHA:396
Cockayne Syndrome A	Carious teeth, Dental malocclusion, Cryptorchidism, Splenomegaly, Thymic hormone decreased, Delay...	OMIM:216400
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Bacterial Toxic-Shock Syndrome	Diarrhea, Vomiting, Hepatitis, Abscess, Increased circulating myelocyte count, Nausea, Peritoniti...	ORPHA:36234
Developmental And Epileptic Encephalopathy 50	Diarrhea, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia	OMIM:616457
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Furrowed tongue, Gingival overgrowth, Advanced eru...	ORPHA:769
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Micrognathia, Delayed eruption of teeth	ORPHA:73272
Deafness-Vitiligo-Achalasia Syndrome	Achalasia	ORPHA:3239
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Long philtrum, Intestinal malrotation, Narrow mouth, Cryptorchidism, Hiatus he...	OMIM:601776
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Retrognathia, Open mouth, Feeding difficulties in infancy, Deep philtr...	ORPHA:1675
Farber Disease	Hepatic fibrosis, Hepatic failure, Hepatosplenomegaly, Lymphadenopathy, Thrombocytopenia, Intrahe...	ORPHA:333
Spondyloocular Syndrome	Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition	OMIM:605822
Genitopatellar Syndrome	Malrotation of small bowel, Anal stenosis, Delayed eruption of teeth, Anteriorly placed anus, Mic...	OMIM:606170
Shprintzen Omphalocele Syndrome	Thin vermilion border, Hypoplasia of the pharynx, Anal atresia	OMIM:182210
Incontinentia Pigmenti	Delayed eruption of teeth, Supernumerary nipple, Abnormal dental enamel morphology, Abnormal dent...	ORPHA:464
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Facial hyperos...	OMIM:218400
3-Hydroxy-3-Methylglutaric Aciduria	Diarrhea, Anorexia, Leukopenia, Leukocytosis, Lipid accumulation in hepatocytes, Anemia, Reye syn...	ORPHA:20
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Chronic decreased circulating IgG1, Widely spaced primary teeth, Panhypopi...	OMIM:300953
Brachydactyly, Type B1	Delayed eruption of permanent teeth	OMIM:113000
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Delayed eruption of teeth	OMIM:129550
Meier-Gorlin Syndrome 7	Anal stenosis, Anteriorly placed anus, Duodenal stenosis, Breast aplasia, Narrow mouth, Cryptorch...	OMIM:617063
Neuroblastoma	Lymphadenopathy, Thrombocytopenia, Abdominal distention, Anemia, Chronic diarrhea	ORPHA:635
Intellectual Developmental Disorder, Autosomal Dominant 57	Diarrhea, Narrow mouth, Thin upper lip vermilion, Constipation, High palate, Intermittent diarrhe...	OMIM:618050
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Downturned corners of mouth, Achalasia, Short philtrum, Esophageal stenosis, Dysphagia, Feeding d...	OMIM:615510
Alternating Hemiplegia Of Childhood	Diarrhea, Abdominal distention, Vomiting, Oral-pharyngeal dysphagia, Downturned corners of mouth,...	ORPHA:2131
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Coffin-Siris Syndrome 1	Conical tooth, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Intestinal ma...	OMIM:135900
Isaacs Syndrome	Weight loss	ORPHA:84142
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:767
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Widely spaced teeth, Ankyloglossia, Agenesis of incisor, Micrognathia, Cry...	OMIM:619841
Pseudohypoparathyroidism, Type Ic	Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism	OMIM:612462
Robin Sequence With Cleft Mandible And Limb Anomalies	Bifid uvula, Microretrognathia, Agenesis of mandibular central incisor, Cleft mandible, Micrognat...	OMIM:268305
Endocrine-Cerebroosteodysplasia	Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Micrognathia, Median cleft palate, ...	OMIM:612651
Lymphatic Filariasis	Lymphadenitis, Hypereosinophilia, Abnormality of the lymphatic system, Lymphadenopathy, Lymphangi...	ORPHA:2035
Chand Syndrome	Agenesis of permanent teeth, Abnormal oral frenulum morphology, Bifid tongue, Agenesis of maxilla...	ORPHA:1401
Teebi Hypertelorism Syndrome 1	Dental crowding, Natal tooth, Long philtrum, Micrognathia, Thin upper lip vermilion, Hydrocele te...	OMIM:145420
Pseudohypoparathyroidism, Type Ia	Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism	OMIM:103580
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Diarrhea, Vomiting, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis...	OMIM:256810
Isolated Cleft Lip	Velopharyngeal insufficiency, Supernumerary maxillary incisor, Macrodontia, Hypodontia, Bilateral...	ORPHA:199302
Reni Syndrome	Lymphopenia	OMIM:617575
Methanol Poisoning	Abdominal pain, Vomiting, Diarrhea, Hyperlipidemia	ORPHA:31825
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia	ORPHA:2400
Fanconi Anemia	Meckel diverticulum, Aplasia/Hypoplasia of the uvula, Duodenal stenosis, Abnormality of the liver...	ORPHA:84
Ivic Syndrome	Anal atresia, Rectovaginal fistula, Leukocytosis, Thrombocytopenia	ORPHA:2307
Gapo Syndrome	Delayed eruption of teeth, Long philtrum, Micrognathia, Abnormal palate morphology, Everted lower...	ORPHA:2067
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
De Barsy Syndrome	Delayed eruption of teeth, Narrow mouth, Cryptorchidism, Small, conical teeth, High palate	ORPHA:2962
Zttk Syndrome	Bifid uvula, Abnormality of the dentition, Hypoplasia of the maxilla, Downturned corners of mouth...	OMIM:617140
Beta-Ketothiolase Deficiency	Diarrhea, Vomiting, Thrombocytosis, Leukocytosis, Anorexia, Hepatomegaly	ORPHA:134
Mucopolysaccharidosis Type 2, Severe Form	Temporomandibular joint ankylosis, Abnormal dental morphology, Hepatosplenomegaly, Gingival overg...	ORPHA:217085
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Conical tooth, Dental malocclusion, Persistence of primary teeth, Malar flattening, Microdontia, ...	OMIM:618727
Huntington Disease	Weight loss, Oral-pharyngeal dysphagia, Decreased body mass index	ORPHA:399
Cockayne Syndrome B	Carious teeth, Dental malocclusion, Splenomegaly, Cryptorchidism, Delayed eruption of primary tee...	OMIM:133540
3M Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p...	ORPHA:2616
Stickler Syndrome	Bifid uvula, Hypoplasia of the maxilla, Gastroesophageal reflux, Microretrognathia, Long philtrum...	ORPHA:828
Cornelia De Lange Syndrome	Gastroesophageal reflux, Volvulus, Downturned corners of mouth, Widely spaced teeth, Intestinal m...	ORPHA:199
Seckel Syndrome	Short stature, Intrauterine growth retardation, Cachexia	ORPHA:808
Cutaneous Mastocytoma	Abdominal pain, Vomiting, Diarrhea, Nausea	ORPHA:79455
Mucopolysaccharidosis Type 2, Attenuated Form	Temporomandibular joint ankylosis, Abnormal dental morphology, Hepatosplenomegaly, Gingival overg...	ORPHA:217093
Odontomicronychial Dysplasia	Abnormality of the dentition, Premature eruption of permanent teeth, Carious teeth, Premature los...	ORPHA:1811
Attrv30M Amyloidosis	Diarrhea, Constipation	ORPHA:85447
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Hypoplastic sweat glands, Hypodontia, Natal tooth, Oligodontia	OMIM:601345
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Hypoperistalsis, Abdominal distention	OMIM:619365
Simpson-Golabi-Behmel Syndrome, Type 1	Narrow palate, Submucous cleft lip, Mandibular prognathia, Exaggerated median tongue furrow, Meck...	OMIM:312870
Robinow Syndrome, Autosomal Dominant 1	Dental crowding, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Retrognat...	OMIM:180700
Alveolar Echinococcosis	Biliary cirrhosis, Abnormal mesentery morphology, Portal hypertension, Hepatic cysts, Eosinophili...	ORPHA:284
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Carious teeth, Gastroesophageal reflux, Nasogastric tube feeding, Pers...	ORPHA:2044
Orofaciodigital Syndrome Type 14	Microretrognathia, Bilateral cryptorchidism, Hamartoma of tongue, Periventricular heterotopia, Ac...	ORPHA:434179
Dysosteosclerosis	Abnormal dental enamel morphology, Craniofacial hyperostosis, Delayed eruption of teeth	ORPHA:1782
Triple A Syndrome	Achalasia, Anterior hypopituitarism	ORPHA:869
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Spontaneous Periodic Hypothermia	Diarrhea, Nausea and vomiting	ORPHA:29822
Hereditary Central Diabetes Insipidus	Weight loss, Growth delay	ORPHA:30925
Polymyositis	Hepatomegaly, Gastrointestinal hemorrhage, Gastroesophageal reflux, Weight loss	ORPHA:732
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Micrognathia, Delayed eruption of teeth	ORPHA:2484
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Micrognathia, Natal tooth	OMIM:616901
Cartilage-Hair Hypoplasia	Lymphopenia, Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Conge...	OMIM:250250
Peters-Plus Syndrome	Hypoplasia of the maxilla, Anteriorly placed anus, Cleft upper lip, Widely spaced teeth, Long phi...	OMIM:261540
Robinow Syndrome	Tooth malposition, Dental malocclusion, Dental crowding, Long philtrum, Ankyloglossia, Persistenc...	ORPHA:97360
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Gastrointestinal hemorrhage, Gastroesophageal reflux, Microretrognat...	ORPHA:508488
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Downturned corners of mouth, Intestinal malrotation, Decreased testicular size, Cleft soft palate...	OMIM:619321
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Xerostomia, Diarrhea, Pancytopenia, Abnormal esophagus physiology, Nause...	ORPHA:99921
Paroxysmal Nocturnal Hemoglobinuria 2	Abdominal pain, Diarrhea, Hemolytic anemia	OMIM:615399
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate	ORPHA:158687
Familial Thrombocytosis	Chronic myelogenous leukemia, Splenomegaly, Acute myeloid leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Ogden Syndrome	Diarrhea, Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchidism, J...	OMIM:300855
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Vomiting, Diarrhea	OMIM:560000
Adiposis Dolorosa	Diarrhea, Xerostomia, Constipation	ORPHA:36397
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Vomiting, Thrombocytopenia, Diarrhea, Hypochromic microcytic anemia	ORPHA:3240
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Cryptorchidism, Downturned corners of mouth, Absent uvula, Thin upper lip vermilion...	OMIM:268310
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Diarrhea, Xerostomia, Abdominal distention, Oral-pharyngeal dysphagia, Oral synechia, Anorexia, O...	ORPHA:95455
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Aicardi-Goutieres Syndrome 9	Acute pancreatitis, Hepatic fibrosis, Failure to thrive, Hepatosplenomegaly, Intrauterine growth ...	OMIM:619487
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Gastroparesis, Intestinal pseudo-obstruction	ORPHA:70595
Primary Sjögren Syndrome	Normocytic anemia, Biliary cirrhosis, Chronic active hepatitis, Lymphopenia, Leukopenia, Decrease...	ORPHA:289390
Solitary Fibrous Tumor	Neoplasm of the liver, Weight loss, Abnormal peritoneum morphology	ORPHA:2126
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Tooth agenesis, Abnormal dental morphology, Adenoma sebaceum, Supernum...	ORPHA:3353
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Nasogastric tube feeding	ORPHA:289504
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Intrauteri...	OMIM:301310
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Carnitine Palmitoyltransferase I Deficiency	Diarrhea, Hepatic steatosis, Transient hyperlipidemia, Hepatomegaly, Feeding difficulties	OMIM:255120
Fabry Disease	Vomiting, Diarrhea, Tenesmus, Nausea, Anemia, Abdominal pain	OMIM:301500
Microphthalmia, Lenz Type	Abnormality of the dentition, Delayed eruption of teeth, Abnormal dental morphology, Cryptorchidi...	ORPHA:568
Cerebrotendinous Xanthomatosis	Cholelithiasis, Diarrhea, Xanthelasma, Pseudobulbar paralysis	OMIM:213700
Yellow Fever	Diarrhea, Vomiting, Pancreatic hyperplasia, Leukocytosis, Nausea, Abdominal pain, Hematemesis, Th...	ORPHA:99829
Lacrimoauriculodentodigital Syndrome 1	Carious teeth, Xerostomia, Lacrimal gland hypoplasia, Delayed eruption of primary teeth, Microdon...	OMIM:149730
Blomstrand Lethal Chondrodysplasia	Natal tooth, Long philtrum, Micrognathia, Protruding tongue, Malar flattening, Protuberant abdomen	ORPHA:50945
Eosinophilic Granulomatosis With Polyangiitis	Gastroesophageal reflux, Intestinal obstruction, Eosinophilia, Weight loss, Dysphagia	ORPHA:183
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Vomiting, Secretory diarrhea	OMIM:616069
Huntington Disease-Like 2	Weight loss	OMIM:606438
Intellectual Developmental Disorder, Autosomal Dominant 51	Cryptorchidism, Chronic constipation, Unilateral cryptorchidism, Chronic diarrhea, Feeding diffic...	OMIM:617788
Mowat-Wilson Syndrome	Tooth malposition, Abnormal enteric ganglion morphology, Vomiting, Delayed eruption of teeth, Sup...	OMIM:235730
Down Syndrome	Duodenal stenosis, Protruding tongue, Acute megakaryocytic leukemia, Malar flattening, Aganglioni...	OMIM:190685
Microphthalmia, Syndromic 2	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Persistence of primar...	OMIM:300166
Glycogen Storage Disease Ia	Xanthelasma, Hyperlipidemia, Pancreatitis, Protuberant abdomen, Hepatomegaly, Intermittent diarrh...	OMIM:232200
Eosinophilic Fasciitis	Eosinophilia, Abnormal eosinophil morphology, Weight loss	ORPHA:3165
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Vomiting, Diarrhea, Pancreatic islet-cell hyperplasia, Increased hepatic glycogen content, Hepato...	ORPHA:263455
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Hyperlipidemia, Reticulocytosis, Schistocytosis, Thr...	OMIM:235400
Ectodermal Dysplasia-Skin Fragility Syndrome	Cheilitis, Abnormality of the dentition, Carious teeth, Anoperineal fistula, Chapped lip, Abnorma...	ORPHA:158668
Central Diabetes Insipidus	Diarrhea, Nausea and vomiting, Anorexia	ORPHA:178029
Mucopolysaccharidosis Type 2	Temporomandibular joint ankylosis, Gingival overgrowth, Splenomegaly, Hepatomegaly, Thick vermili...	ORPHA:580
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Acrodysostosis 1 With Or Without Hormone Resistance	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Cryptorchidism, Decrea...	OMIM:101800
Giant Cell Arteritis	Gastrointestinal infarctions, Glossitis, Weight loss, Mediastinal lymphadenopathy	ORPHA:397
Cole-Carpenter Syndrome	Abnormal dental enamel morphology, Micrognathia, Delayed eruption of teeth	ORPHA:2050
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Holocarboxylase Synthetase Deficiency	Weight loss, Growth delay, Thrombocytopenia	ORPHA:79242
Isolated Succinate-Coq Reductase Deficiency	Severe short stature, Intrauterine growth retardation, Weight loss, Proportionate short stature	ORPHA:3208
Acrodermatitis Enteropathica	Cheilitis, Furrowed tongue, Malabsorption, Anorexia, Glossitis, Chronic diarrhea, Poor appetite	ORPHA:37
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Diarrhea, Vomiting, Gastroesophageal reflux, Feeding difficulties in infancy, Constipation	OMIM:223900
Diamond-Blackfan Anemia 21	Micrognathia, Narrow mouth, Erythroid hypoplasia, Thrombocytopenia, Anemia, Chronic diarrhea	OMIM:620072
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Viss Syndrome	Increased circulating IgE level, Cleft soft palate, Micrognathia, Chronic constipation, Abdominal...	OMIM:619472
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia	ORPHA:216866
Generalized Pustular Psoriasis	Lymphopenia, Leukocytosis	ORPHA:247353
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Cholelithiasis, Diarrhea, Intestinal pseudo-obstruction, Oral-p...	ORPHA:273
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Feeding difficulties in infancy, Gastroesophageal reflux, Constipation	OMIM:608643
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Paroxysmal Cold Hemoglobinuria	Diarrhea, Coombs-positive hemolytic anemia, Nausea and vomiting, Autoimmune hemolytic anemia	ORPHA:90035
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Diarrhea, Vomiting, Acute hepatic failure, Hepatic n...	ORPHA:71212
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Vomiting, Pancytopenia, Diarrhea, Episodic vomiting	OMIM:618321
Focal Dermal Hypoplasia	Dental malocclusion, Delayed eruption of teeth, Anteriorly placed anus, Cleft upper lip, Intestin...	OMIM:305600
Chikungunya	Gingival bleeding, Vomiting, Diarrhea, Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Melnick-Needles Syndrome	Tooth malposition, Delayed eruption of teeth, Micrognathia, Stillbirth, Obtuse angle of mandible,...	OMIM:309350
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Hypodontia, Abnormal alv...	OMIM:225500
Cryptogenic Organizing Pneumonia	Weight loss, Leukocytosis, Neutrophilia	ORPHA:1302
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Vomiting, Leukocytosis, Nausea, Hematemesis, Thrombocytopenia, Melena, Anemia, Abdomina...	ORPHA:340
Reactive Arthritis	Recurrent aphthous stomatitis, Abdominal pain, Inflammation of the large intestine, Diarrhea	ORPHA:29207
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of ...	ORPHA:220460
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Orofacial cleft, Ovarian fibroma, Odontog...	ORPHA:77301
Poems Syndrome	Polycythemia, Increased circulating prolactin concentration, Splenomegaly, Weight loss, Lymphaden...	ORPHA:2905
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Intellectual Disability-Alacrima-Achalasia Syndrome	Deep philtrum, Achalasia, Dysphagia	ORPHA:289483
Neuroblastoma, Susceptibility To, 1	Anemia, Abdominal pain, Diarrhea	OMIM:256700
Japanese Encephalitis	Neutrophilia, Diarrhea, Vomiting, Increased circulating antibody level, Anorexia, Abdominal pain,...	ORPHA:79139
Parathyroid Carcinoma	Peptic ulcer, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, ...	ORPHA:143
Premature Aging Syndrome, Penttinen Type	Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathia, Micrognathia, Narrow philtrum...	OMIM:601812
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Colitis, Chronic diarrhea	OMIM:301220
Diffuse Alveolar Hemorrhage	Anemia, Weight loss, Leukocytosis, Thrombocytopenia	ORPHA:90060
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Anemia, Chronic diarrhea, Dysphagia, Feeding difficulties	OMIM:620358
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Decreased testicular size, Persistence of primary teeth, Congenital hypoparathyroi...	ORPHA:93325
Craniosynostosis And Dental Anomalies	Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Dental crowding, High ...	OMIM:614188
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Leukocyte Adhesion Deficiency	Bone marrow hypocellularity, Abnormality of neutrophil physiology, Recurrent tonsillitis, Abnorma...	ORPHA:2968
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Diarrhea, Feeding difficulties in infancy, Vomiting, Hyperaldosteronism	OMIM:264350
Charge Syndrome	Gastroesophageal reflux, Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the zygomatic ...	ORPHA:138
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Anemia	ORPHA:85408
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal cortical gyration, Long philtrum, Thick lower lip vermilion, Narrow mouth, Mesiodens, Co...	ORPHA:314647
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Gastroesophageal reflux, Cryptorchidism, Chronic constipation, Feeding difficulties in infancy, C...	ORPHA:500055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Esophagitis, Hepatic steatosis, Achalasia, Hepatomegaly, Feeding difficulties	OMIM:615356
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Barber-Say Syndrome	Breast aplasia, Hypoplastic nipples, Wide mouth, Delayed eruption of teeth	ORPHA:1231
Prader-Willi Syndrome	Small pituitary gland, Abnormality of the dentition, Vomiting, Xerostomia, Periodontitis, Poor su...	ORPHA:739
Deafness, Congenital, With Vitiligo And Achalasia	Achalasia	OMIM:221350
Epidermolysis Bullosa, Lethal Acantholytic	Natal tooth, Neonatal death	OMIM:609638
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Long philtrum, Decreased response to growth hormone stimulation test, Micrognathia, Narrow mouth,...	OMIM:616007
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
8P23.1 Microdeletion Syndrome	Intrauterine growth retardation, Obesity, Cryptorchidism, Weight loss, Short stature, High palate...	ORPHA:251071
Posterior Column Ataxia With Retinitis Pigmentosa	Achalasia	OMIM:609033
Cholera	Vomiting, Diarrhea, Achlorhydria, Abdominal pain, Abdominal cramps	ORPHA:173
Aspartylglucosaminuria	Macroglossia, Diarrhea, Thick lower lip vermilion, Neutropenia, Hepatomegaly, Vacuolated lymphocy...	OMIM:208400
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Anemia, Diarrhea, Episodic vomiting	OMIM:246450
Lipodystrophy, Familial Partial, Type 7	Vomiting, Diarrhea, Narrow mouth, Recurrent pancreatitis, Hypercholesterolemia, Hypertriglyceride...	OMIM:606721
Proteus Syndrome	Thymus hyperplasia, Neoplasm of the thymus, Splenomegaly, Enlarged polycystic ovaries, Cachexia, ...	ORPHA:744
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Peritonitis, Ileal atresia, Abdominal distention	OMIM:619351
Fatal Familial Insomnia	Weight loss, Dysphagia	OMIM:600072
Lymphoid Interstitial Pneumonia	Hepatomegaly, Weight loss, Mediastinal lymphadenopathy, Failure to thrive	ORPHA:79128
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Widely spaced teeth, Micrognathia, Microdontia, Hypodontia, Supernumerary tooth	ORPHA:90024
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea	OMIM:601979
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Fructose-1,6-Bisphosphatase Deficiency	Vomiting, Diarrhea, Hepatic steatosis, Reye syndrome-like episodes, Hepatomegaly	ORPHA:348
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Polymicrogyria	OMIM:619708
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Restrictive Dermopathy	Microcolon, Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous...	ORPHA:1662
Colchicine Poisoning	Nausea, Vomiting, Diarrhea, Leukocytosis	ORPHA:31824
Occipital Horn Syndrome	High, narrow palate, Gastroesophageal reflux, Hepatitis, Long philtrum, Cholestasis, Gastroparesi...	ORPHA:198
Multicentric Osteolysis, Nodulosis, And Arthropathy	Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Delayed eruption of teeth	OMIM:259600
Hereditary Fructose Intolerance	Diarrhea, Vomiting, Nausea, Abdominal pain, Chronic hepatic failure, Constipation, Abdominal dist...	ORPHA:469
Marfan Syndrome	High, narrow palate, Slender build, Cachexia, Cleft palate	ORPHA:558
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Ovarian cyst, Adenomatous colonic polyposis	OMIM:617100
Diarrhea 1, Secretory Chloride, Congenital	Hyperaldosteronism, Abdominal distention, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Vomiting, Diarrhea, Cryptorchidism, Episodic abdominal pain, Decreased cir...	ORPHA:361
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Chronic lymphatic leukemia, Abnormality of the gastrointestinal trac...	ORPHA:91139
Proximal Spinal Muscular Atrophy	Gastroesophageal reflux, Gastroparesis, Constipation, Dysphagia, Poor suck	ORPHA:70
Pseudohypoparathyroidism Type 1C	Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response to growth ...	ORPHA:79444
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Malabsorption, Chronic diarrhea, Abdominal distention	OMIM:606824
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Vomiting, Hyperaldosteronism, Feeding difficulties	OMIM:177735
Fabry Disease	Thick lower lip vermilion, Malabsorption, Nausea and vomiting, Hyperlipidemia, Achalasia, Anorexi...	ORPHA:324
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Anal fissure, Perianal dermatitis, Recurrent gastroenteritis, Bloody diarrhea	ORPHA:294023
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Weight loss...	ORPHA:103918
Mitochondrial Dna Depletion Syndrome 11	Nausea, Chronic diarrhea	OMIM:615084
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Delayed eruption of permanent teeth, Tented upper lip vermilion, Thyroid hypoplasia, Short philtr...	ORPHA:521445
Leptospirosis	Diarrhea, Hepatitis, Nausea and vomiting, Abdominal pain, Lymphadenopathy, Thrombocytopenia, Anor...	ORPHA:509
Tropical Endomyocardial Fibrosis	Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly	ORPHA:75565
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea	OMIM:619484
Glutaric Aciduria Iii	Diarrhea, Vomiting, Goiter	OMIM:231690
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Megaloblastic anemia	OMIM:618882
Cocaine Intoxication	Vomiting, Gastrointestinal infarctions, Nausea, Abdominal pain, Colitis, Bloody diarrhea, Intesti...	ORPHA:90068
Glossopharyngeal Neuralgia	Weight loss, Odynophagia, Oral-pharyngeal dysphagia	ORPHA:221098
Pseudohypoparathyroidism Type 1A	Pituitary resistance to thyroid hormone, Delayed eruption of teeth, Decreased response to growth ...	ORPHA:79443
Acute Adrenal Insufficiency	Normocytic anemia, Diarrhea, Nausea and vomiting, Decreased circulating cortisol level, Constipat...	ORPHA:95409
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Graves Disease	Weight loss, Goiter	OMIM:275000
Hypercalcemia, Infantile, 1	Weight loss, Failure to thrive	OMIM:143880
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Bifid uvula, Decreased circulating IgG level, Gastroesophageal reflux, Hypoplasia of the maxilla,...	ORPHA:500150
Acute Liver Failure	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Hepatic periportal necrosis, Hepatoce...	ORPHA:90062
Ethylmalonic Encephalopathy	Diarrhea	ORPHA:51188
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Dental crowding, Cleft upper lip, Cryptorchidism, Agangli...	OMIM:309800
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Ineffective esophageal peristalsis, Feeding difficulties, Chronic constipa...	OMIM:209880
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Anterior pituitary agenesis, Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Intestinal...	ORPHA:2255
Wiedemann-Rautenstrauch Syndrome	Abnormality of the dentition, Natal tooth, Downturned corners of mouth, Increased circulating pro...	ORPHA:3455
Ramon Syndrome	Narrow palate, Gingival fibromatosis, Delayed eruption of teeth	OMIM:266270
Sotos Syndrome	Abnormality of the dentition, Gastroesophageal reflux, Agenesis of permanent teeth, Cryptorchidis...	ORPHA:821
Dopamine Beta-Hydroxylase Deficiency	Anemia, Vomiting, Diarrhea	ORPHA:230
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Peripheral Primitive Neuroectodermal Tumor	Weight loss, Pancreatitis, Anemia, Jaundice, Ovarian neoplasm, Neoplasm of the pancreas	ORPHA:370348
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroesophageal reflux, Goiter, Gastroparesis, Abnormality of the liver, Constipation, Dysphagia	ORPHA:254892
Glucocorticoid Deficiency 2	Decreased circulating cortisol level, Achalasia, Bilateral cryptorchidism	OMIM:607398
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Pallister-Killian Syndrome	Supernumerary nipple, Micrognathia, Cryptorchidism, Everted lower lip vermilion, Anal atresia, Th...	OMIM:601803
Townes-Brocks Syndrome 1	Anal stenosis, Gastroesophageal reflux, Cryptorchidism, Tracheoesophageal fistula, Rectoperineal ...	OMIM:107480
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Dysphagia, Intestinal pseudo-obstruction	OMIM:607459
Glucose-Galactose Malabsorption	Diarrhea, Vomiting, Malnutrition, Hyperactive bowel sounds, Osmotic diarrhea, Abdominal distention	ORPHA:35710
Young-Onset Parkinson Disease	Gastroparesis, Diarrhea, Nausea, Constipation	ORPHA:2828
Mucolipidosis Type Ii	Postnatal growth retardation, Hepatosplenomegaly, Splenomegaly, Weight loss, Short stature	ORPHA:576
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Amyloidosis, Hereditary Systemic 1	Diarrhea, Episodic vomiting, Constipation	OMIM:105210
Car T Cell Therapy-Associated Cytokine Release Syndrome	Nausea, Vomiting, Diarrhea, Poor appetite	ORPHA:542323
Sponastrime Dysplasia	Mandibular prognathia, Microdontia, Hypoplasia of the dental root, Hypoplasia of the nasal bone, ...	ORPHA:93357
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Cystinosis, Nephropathic	Growth delay, Failure to thrive, Exocrine pancreatic insufficiency, Failure to thrive in infancy,...	OMIM:219800
Wrinkly Skin Syndrome	Carious teeth, Delayed eruption of teeth, Long philtrum, Cryptorchidism, Smooth philtrum, Small, ...	ORPHA:2834
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess, Malabsorption	ORPHA:289176
Wrinkly Skin Syndrome	Carious teeth, Microretrognathia, Delayed eruption of teeth, Long philtrum, Cryptorchidism, Micro...	OMIM:278250
Perry Syndrome	Weight loss	ORPHA:178509
African Trypanosomiasis	Diarrhea, Vomiting, Hepatosplenomegaly, Splenomegaly, Abnormality of circulating cortisol level, ...	ORPHA:3385
Enterokinase Deficiency	Diarrhea	OMIM:226200
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Periodontitis, Retrognathia, Delayed eruption of permanent teeth, Prem...	OMIM:619269
Pneumocystosis	Abnormal neutrophil count, Weight loss	ORPHA:723
Focal Myositis	Weight loss	ORPHA:48918
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Long philtrum, Widely spaced teeth, Microdontia, High palate	OMIM:143095
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu...	OMIM:619482
Achalasia, Familial Esophageal	Xerostomia, Achalasia	OMIM:200400
Acute Transverse Myelitis	Paralytic ileus, Gastroparesis, Constipation, Abscess	ORPHA:139417
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Long philtrum, Gastroparesis, Cryptorchidism, Neonatal death	OMIM:614052
Blue Diaper Syndrome	Diarrhea	ORPHA:94086
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Behçet Disease	Gastrointestinal hemorrhage, Splenomegaly, Orchitis, Weight loss, Pancreatitis, Lymphadenopathy	ORPHA:117
Pallister-Hall Syndrome	Bifid uvula, Secondary growth hormone deficiency, Microglossia, Cleft lip, Natal tooth, Microretr...	ORPHA:672
Occipital Horn Syndrome	Hiatus hernia, High palate, Chronic diarrhea, Long philtrum	OMIM:304150
Autosomal Recessive Cutis Laxa Type 1	Intrauterine growth retardation, Small bowel diverticula, Pyloric stenosis	ORPHA:90349
Restrictive Dermopathy 1	Natal tooth, Temporomandibular joint ankylosis, Micrognathia, Narrow mouth, Submucous cleft hard ...	OMIM:275210
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Encephalopathy, Ethylmalonic	Chronic diarrhea, Feeding difficulties	OMIM:602473
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Pancreatitis, Granulomatosis	ORPHA:900
Congenital Disorder Of Glycosylation, Type Im	Vomiting, Diarrhea, Increased circulating free fatty acid level	OMIM:610768
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Gastroparesis, Dysphagia	OMIM:157640
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Weight loss, Neutropenia	ORPHA:79430
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation	OMIM:608654
Distal Renal Tubular Acidosis	Vomiting, Diarrhea, Constipation, Hemolytic anemia, Poor appetite	ORPHA:18
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Osteosarcoma	Weight loss	ORPHA:668
Isolated Permanent Neonatal Diabetes Mellitus	Pancreatic hypoplasia, Failure to thrive, Intrauterine growth retardation, Weight loss, Reduced p...	ORPHA:99885
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis...	ORPHA:177901
Gitelman Syndrome	Diarrhea, Nausea and vomiting, Iron deficiency anemia, Constipation, Parathyroid adenoma, Primary...	ORPHA:358
Pyomyositis	Testicular teratoma, Weight loss, Leukocytosis	ORPHA:764
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis...	ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis...	ORPHA:98793
Achalasia-Addisonianism-Alacrima Syndrome	Decreased circulating cortisol level, Achalasia	OMIM:231550
Serotonin Syndrome	Nausea, Hepatic failure, Diarrhea	ORPHA:43116
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Gastroparesis...	ORPHA:177904
Specc1L-Related Hypertelorism Syndrome	Long philtrum, Cryptorchidism, Advanced eruption of teeth, Orofacial cleft, Everted lower lip ver...	ORPHA:1519
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Scalp-Ear-Nipple Syndrome	Breast aplasia, Abnormality of the dentition, Delayed eruption of teeth	ORPHA:2036
Autosomal Dominant Cutis Laxa	Feeding difficulties, Vomiting, Small bowel diverticula	ORPHA:90348
Short Syndrome	Severe short stature, Weight loss	ORPHA:3163
Liposarcoma	Weight loss	ORPHA:69078
Bullous Pemphigoid	Weight loss	ORPHA:703
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia	OMIM:300858
Norrie Disease	Cachexia, Delayed puberty, Cryptorchidism, Failure to thrive	ORPHA:649
Hereditary Late-Onset Parkinson Disease	Weight loss, Dysphagia	ORPHA:411602
Erythroderma Desquamativum	Diarrhea	ORPHA:314
Postinfectious Vasculitis	Orchitis, Weight loss, Gastrointestinal inflammation, Unusual gastrointestinal infection, Viral h...	ORPHA:48435
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Gastroparesis, Bowel incontinence, Polymicrogyria	OMIM:618877
Nmda Receptor Encephalitis	Testicular teratoma, Vomiting, Diarrhea, Ovarian teratoma, Neoplasm of the thymus	ORPHA:217253
Perry Syndrome	Weight loss	OMIM:168605
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Cholelithiasis, Chronic diarrhea, Premature loss of teeth	ORPHA:909
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Weight loss, Dysphagia	ORPHA:93672
Familial Hypoaldosteronism	Diarrhea, Nausea and vomiting, Feeding difficulties	ORPHA:427
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Sporadic Pheochromocytoma/Secreting Paraganglioma	Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma	ORPHA:276621
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Vomiting, Diarrhea, Malabsorption	ORPHA:47159
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Small for gestational age, Weight loss, Thyroid hyperplasia, Goiter	ORPHA:424
Choreoacanthocytosis	Acanthocytosis, Protruding tongue, Splenomegaly, Abnormal erythrocyte enzyme concentration or act...	ORPHA:2388
Scorpion Envenomation	Abdominal pain, Vomiting, Diarrhea, Acute pancreatitis	ORPHA:466677
Granulomatosis With Polyangiitis	Weight loss, Granulomatosis	OMIM:608710
Cardiospondylocarpofacial Syndrome	Gastroesophageal reflux, Long philtrum, Gastroparesis, Decreased testicular size, Wide mouth, Fee...	OMIM:157800
Systemic Lupus Erythematosus	Leukopenia, Weight loss, Lymphadenopathy, Thrombocytopenia, Hemolytic anemia	ORPHA:536
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Adrenocortical Carcinoma	Increased body weight, Adrenocorticotropic hormone deficiency, Weight loss	ORPHA:1501
Erdheim-Chester Disease	Anemia, Weight loss, Retroperitoneal fibrosis	ORPHA:35687
Rheumatoid Arthritis	Weight loss	OMIM:180300
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Hydrocele testis, Weight loss	ORPHA:49041
Oculopharyngodistal Myopathy 1	High palate, Weight loss, Dysphagia	OMIM:164310
Familial Gestational Hyperthyroidism	Diarrhea, Thyroid hyperplasia, Goiter	ORPHA:99819
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Nocardiosis	Peritonitis, Weight loss, Lymphadenitis, Liver abscess	ORPHA:31204
Congenital Fiber-Type Disproportion Myopathy	High palate, Weight loss, Dysphagia, Failure to thrive	ORPHA:2020
Hereditary Pheochromocytoma-Paraganglioma	Adrenal pheochromocytoma, Weight loss, Extraadrenal pheochromocytoma	ORPHA:29072
Pemphigus Vulgaris	Weight loss	ORPHA:704
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Vomiting, Diarrhea, Hyperaldosteronism, Constipation	OMIM:601678
Dermatomyositis	Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Dysphagia, Weight loss	ORPHA:221
Phoar2-Enteropathy Syndrome	Secretory diarrhea	OMIM:614441
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Testicular microlithiasis, Weight loss	ORPHA:60025
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Tsh-Secreting Pituitary Adenoma	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Goiter, Adren...	ORPHA:91347
Bartter Syndrome, Type 2, Antenatal	Vomiting, Diarrhea, Hyperaldosteronism, Constipation, Impaired platelet aggregation	OMIM:241200
Autoimmune Pulmonary Alveolar Proteinosis	Weight loss	ORPHA:747
Thyrotoxic Periodic Paralysis	Obesity, Weight loss	ORPHA:79102
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Secretory diarrhea	OMIM:167100
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Failure to thrive, Decreased testicular size, Weight loss, Short stature, Testicular adrenal rest...	ORPHA:90794
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Reduced hematocrit, Weight loss, Normochromic anemia	ORPHA:91500
Primary Fanconi Renotubular Syndrome	Weight loss, Growth delay	ORPHA:3337
Goodpasture Syndrome	Anemia, Weight loss	OMIM:233450

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nkx2-3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nkx2-3.

No publications found that use IMPC mice or data for Nkx2-3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Nkx2-3^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Nkx2-3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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