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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 (1581 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
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Hepatomegaly, Anemia of inadequate production, Carious teeth, Splenomegaly, Jaundice, Malnutritio...	OMIM:612714
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy	OMIM:183350
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Wolman Disease	Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Ma...	ORPHA:75233
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center	OMIM:235550
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia	OMIM:615615
Cholesteryl Ester Storage Disease	Acute hepatic failure, Bone-marrow foam cells, Leukopenia, Hepatic fibrosis, Vomiting, Hepatic st...	OMIM:278000
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc...	OMIM:619924
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Villous atrophy, Reduced natural killer cell activity, Feeding difficulties in infa...	OMIM:616050
Hypoglossia With Situs Inversus	Micrognathia, Asplenia, Feeding difficulties in infancy, Malnutrition, High palate, Hypodontia, P...	OMIM:612776
Immunodeficiency 104	Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Immunodeficiency 24	Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc...	OMIM:615897
Bile Acid Synthesis Defect, Congenital, 1	Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, A...	OMIM:607765
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Abdominal pain, Leukocyto...	ORPHA:2070
Immunodeficiency 84	Perianal abscess, Splenomegaly, B lymphocytopenia	OMIM:619437
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Alpha-Heavy Chain Disease	Hepatomegaly, Abnormal small intestine morphology, Dysgammaglobulinemia, Malabsorption, Abdominal...	ORPHA:100025
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce...	OMIM:618987
Squamous Cell Carcinoma Of The Esophagus	Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Lymphadenopathy	ORPHA:99977
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Mantle Cell Lymphoma	Abnormality of the gastrointestinal tract, Splenomegaly, Weight loss, Lymphadenopathy	ORPHA:52416
Bile Acid Synthesis Defect, Congenital, 2	Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Diarrhea, Steatorrhea, Hepatic fa...	OMIM:235555
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Diarrhea, Hepatic fibrosis, Protein-losing enteropathy, Cirrhosis,...	OMIM:602579
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Congenital Tufting Enteropathy	Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor...	ORPHA:92050
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Lactose Intolerance, Adult Type	Lactose intolerance, Flatulence, Abdominal pain, Decreased small intestinal mucosa lactase level,...	OMIM:223100
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul...	OMIM:619846
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Regional Odontodysplasia	Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu...	ORPHA:83450
Bile Acid Malabsorption, Primary, 1	Increased fecal bile acid, Fat malabsorption, Chronic diarrhea, Steatorrhea	OMIM:613291
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Villous atrophy, Microcytic anemia, Malabsorption, Abdomina...	ORPHA:398063
Immunodeficiency 85 And Autoimmunity	Decreased circulating IgG level, Villous atrophy, Chronic diarrhea, T lymphocytopenia, Decreased ...	OMIM:619510
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Villous atrophy, Malnutrition, Abnormal intestine morphology, Protracted diarrhea	OMIM:251850
Reticular Dysgenesis	Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl...	OMIM:267500
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ...	ORPHA:309108
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Absent circulating B cells, Decreased ci...	OMIM:620282
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy	OMIM:312500
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe...	OMIM:618261
Diarrhea 7, Protein-Losing Enteropathy Type	Abdominal colic, Villous atrophy, Diarrhea, Hyperlipidemia, Protein-losing enteropathy, Vomiting,...	OMIM:615863
Laryngotracheoesophageal Cleft Type 4	Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In...	ORPHA:93941
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Feeding difficulties in infancy, Exocrine pancreatic insufficiency, Steatorrhea, Neutropenia	OMIM:618752
Congenital Short Bowel Syndrome	Abnormal peristalsis, Projectile vomiting, Intestinal malrotation, Abdominal distention, Chronic ...	OMIM:615237
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Atro...	OMIM:614700
Chylomicron Retention Disease	Diarrhea, Malnutrition, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Stea...	OMIM:246700
Kimura Disease	Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ...	ORPHA:482
Chronic Diarrhea Due To Glucoamylase Deficiency	Dyspepsia, Abnormal small intestinal mucosa morphology, Abdominal pain, Malabsorption, Decreased ...	ORPHA:103907
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia, Decreased circulating IgG level	OMIM:242870
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Lymphadenopathy, Abnor...	OMIM:212050
Bile Acid Synthesis Defect, Congenital, 3	Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatic failure, Hepatitis, Diarr...	OMIM:613812
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Leukocytosis, Decreased circulating ant...	OMIM:243150
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ...	ORPHA:277
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Peritoneal effusion, Increased stool alpha1-antitrypsin concentr...	ORPHA:90362
Chylomicron Retention Disease	Hypertriglyceridemia, Hypocholesterolemia, Increased hepatocellular lipid droplets, Acanthocytosi...	ORPHA:71
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Villous atrophy, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Ileus, Chronic diar...	OMIM:304790
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno...	OMIM:300853
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Villous atrophy, Decreased proportion of CD4+CD25+...	OMIM:606367
B-Cell Expansion With Nfkb And T-Cell Anergy	Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati...	OMIM:616452
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Malabsorption, Asplenia, Diarrh...	OMIM:240300
Infantile Systemic Hyalinosis	Abnormality of the gastrointestinal tract, Abnormal dental morphology, Malabsorption, Chronic dia...	ORPHA:2176
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod...	ORPHA:100024
Adenocarcinoma Of The Esophagus	Nausea and vomiting, Barrett esophagus, Feeding difficulties in infancy, Esophageal carcinoma, Ly...	ORPHA:99976
Burkitt Lymphoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma...	ORPHA:543
Celiac Disease, Susceptibility To, 1	Macrocytic anemia, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Iron deficienc...	OMIM:212750
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Abdominal distention, Secretory diarrhea, Dependency on ...	OMIM:619445
Immunodeficiency With Hyper-Igm, Type 3	Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ...	OMIM:606843
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Sinusitis, Decreased response to growt...	ORPHA:811
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Peroxisome Biogenesis Disorder 3B	Hepatomegaly, Hypocholesterolemia, Malar flattening, Steatorrhea	OMIM:266510
Bile Acid Malabsorption, Primary, 2	Chronic diarrhea, Copper accumulation in liver, Periportal fibrosis, Prolonged neonatal jaundice,...	OMIM:619481
Immunodeficiency, Common Variable, 1	Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a...	OMIM:607594
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Reduced natural killer ...	OMIM:300400
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp...	OMIM:618982
Diarrhea 9	Villous atrophy, Diarrhea	OMIM:618168
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Malabsorption, Feeding difficulties in infancy, Diarrhea,...	OMIM:229050
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i...	OMIM:619220
Cronkhite-Canada Syndrome	Intestinal polyposis, Hepatomegaly, Cachexia, Malabsorption, Splenomegaly, Furrowed tongue, Hamar...	ORPHA:2930
Stormorken-Sjaastad-Langslet Syndrome	Asplenia, Short stature, Anemia	ORPHA:3204
Coproporphyria, Hereditary	Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor...	OMIM:121300
Agammaglobulinemia 8B, Autosomal Recessive	Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu...	OMIM:619824
Caspase 8 Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:607271
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi...	ORPHA:275761
Bare Lymphocyte Syndrome, Type Ii	Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Protract...	OMIM:209920
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Cholesteryl Ester Storage Disease	Nausea and vomiting, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Diarrhea, Esopha...	ORPHA:75234
Agammaglobulinemia 4, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Protein-losing e...	OMIM:613502
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Florid Cemento-Osseous Dysplasia	Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn...	ORPHA:83451
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig...	OMIM:619802
Immunodeficiency 8 With Lymphoproliferation	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:615401
Ceroid storage disease	Abnormality of the spleen	OMIM:214200
Primary Ciliary Dyskinesia	Intestinal malrotation, Asplenia, Chronic sinusitis, Polysplenia, Abnormal sperm motility	ORPHA:244
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Intestinal pseudo-obstruction, Cachexia, Malabsorption, Gastrointestinal dysmotility, Weight loss...	OMIM:613662
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Jaundice, Cholestasis, Steatorr...	ORPHA:79303
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Hypercholanemia, Familial 1	Fat malabsorption, Steatorrhea	OMIM:607748
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Diarrhea, Decreased circulating antibody level, Leukop...	ORPHA:33355
Pfapa Syndrome	Nausea and vomiting, Hepatomegaly, Malabsorption, Abdominal pain, Splenomegaly, Lymphadenopathy, ...	ORPHA:42642
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Volvulus, Tracheoeso...	ORPHA:210122
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia	OMIM:233650
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Pancreatic Lipase Deficiency	Fat malabsorption, Hypocholesterolemia, Steatorrhea	OMIM:614338
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy, Diarrhea	OMIM:618662
Immunodeficiency 48	Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly	OMIM:269840
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Variant Abeta2M Amyloidosis	Intestinal perforation, Abnormality of the tongue, Gastrointestinal infarctions, Hepatic amyloido...	ORPHA:314652
Trichohepatoenteric Syndrome 2	Hepatomegaly, Villous atrophy, Diarrhea, Chronic diarrhea, Chronic hepatitis, Bloody diarrhea, Co...	OMIM:614602
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormality of neuronal migration, Narr...	ORPHA:2063
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Dental crowding, Splenomegaly, Chronic diarrhea, Steatorrhea, Feeding difficulties,...	OMIM:618268
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Steatorrhea, ...	OMIM:269200
Sweeney-Cox Syndrome	Micrognathia, Asplenia, Bilateral cryptorchidism, Velopharyngeal insufficiency, High palate, Shor...	OMIM:617746
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen...	OMIM:618986
Gracile Bone Dysplasia	Short stature, Asplenia, Hypoplastic spleen, Failure to thrive, Ankyloglossia	OMIM:602361
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Diarrhea, Steatorrhea, High palate, Neutropenia, Hyperechogenic ...	OMIM:617941
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circul...	OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia...	OMIM:614470
Isolated Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Abnormality of neut...	ORPHA:229717
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Leukocytosis, Ulcerative colitis, Anemia, Bloody diarrhea	OMIM:619398
Persistent Polyclonal B-Cell Lymphocytosis	Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis	OMIM:606445
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ...	ORPHA:169154
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the spleen	ORPHA:2487
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Cach...	ORPHA:83469
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Hepatomegaly, Villous atrophy, Feeding difficulties in infancy, Diarrhe...	OMIM:212065
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod...	ORPHA:397596
Mulibrey Nanism	Intrauterine growth retardation, Short stature, Cachexia, Hepatomegaly	ORPHA:2576
Hypobetalipoproteinemia, Familial, 1	Hypertriglyceridemia, Hypocholesterolemia, Steatorrhea, Acanthocytosis	OMIM:615558
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Anorexia, Oral ulcer, T lymphocytopenia, ...	OMIM:619381
Immunodeficiency 50	Decreased circulating antibody level, Lymphopenia, Neutropenia	OMIM:300988
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Abnormal large intestine morphology, Esophageal neopla...	ORPHA:2198
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Asplenia, Cleft lip, Feeding difficulties in infancy, Cryptorchidism, Cleft palate,...	OMIM:619123
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,...	OMIM:619313
Schimke Immuno-Osseous Dysplasia	Impaired T cell function, Thrombocytopenia, Abdominal distention, Hyperlipidemia, Abnormal primar...	ORPHA:1830
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr...	OMIM:616005
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, A...	OMIM:616100
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Pancreatic fibrosis, Intestinal malrotation, Malformation of the hepatic ductal pla...	OMIM:208540
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr...	OMIM:603552
Feingold Syndrome 1	Accessory spleen, Jejunal atresia, Micrognathia, Asplenia, Esophageal atresia, Gastrointestinal a...	OMIM:164280
Glucagonoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Intermittent jaundic...	ORPHA:97280
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Sideroblastic anemia, Pancytopenia, Pancreatic fibrosis, Villous atrophy, Anorexia,...	OMIM:557000
Reynolds Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis...	OMIM:613471
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Malabsorption, Hypersplenism, Thr...	ORPHA:98850
Immunodeficiency With Hyper-Igm, Type 2	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:605258
Cystic Fibrosis	Hepatomegaly, Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Biliary cirrhosis, Hepatosplenome...	OMIM:219700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection, Conical tooth, Feeding difficulties in in...	ORPHA:98813
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility	Intestinal malrotation, Duodenal atresia, Polysplenia, Chronic sinusitis, Reduced progressive spe...	OMIM:619608
Cernunnos-Xlf Deficiency	Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ...	ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 3	Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia	OMIM:608898
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc...	OMIM:602450
Isolated Sedoheptulokinase Deficiency	Portal hypertension, Hepatitis, Cholestasis, Hypochromic microcytic anemia, Cholestatic liver dis...	ORPHA:440713
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Immunodeficiency, Common Variable, 11	Mucoid diarrhea, Aphthous ulcer, Increased circulating IgE level, Decreased proportion of class-s...	OMIM:615767
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Feeding di...	OMIM:300048
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Immunodeficiency 68	Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count	OMIM:612260
Familial Adenomatous Polyposis 1	Duodenal polyposis, Carious teeth, Supernumerary tooth, Adenomatous colonic polyposis, Multiple g...	OMIM:175100
Immunodeficiency 19	T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology	OMIM:615617
Immunodeficiency 70	Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ...	OMIM:618969
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Asplenia, Solitary median maxillary central incisor, High palate, Intestinal malrotation	OMIM:619657
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618806
Congenital Disorder Of Glycosylation, Type Id	Villous atrophy, Diarrhea, High palate, Vomiting, Bifid uvula	OMIM:601110
Mosaic Trisomy 9	Intestinal malrotation, Micrognathia, Asplenia, Cryptorchidism, Cleft palate, High palate, Abnorm...	ORPHA:99776
Gardner Syndrome	Neoplasm of the pancreas, Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dent...	ORPHA:79665
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Somatostatinoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97283
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis, Oral ulcer	OMIM:618287
Immunodeficiency With Hyper-Igm, Type 5	Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas...	OMIM:608106
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Feingold Syndrome	Micrognathia, Abnormality of the spleen, Esophageal atresia, Orofacial cleft, Annular pancreas, D...	ORPHA:1305
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Familial Adenomatous Polyposis	Duodenal polyposis, Multiple gastric polyps, Eruption failure, Adenocarcinoma of the small intest...	ORPHA:733
Pearson Syndrome	Decreased response to growth hormone stimulation test, Abnormality of the liver, Neutropenia, Hep...	ORPHA:699
Cholestasis, Progressive Familial Intrahepatic, 2	Hepatomegaly, Short stature, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Cirrh...	OMIM:601847
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Chronic diarrhea, Monocytosis, ...	OMIM:619281
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I...	OMIM:618495
Progressive Familial Intrahepatic Cholestasis	Hepatomegaly, Short stature, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Failure to thrive	ORPHA:172
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Secretory diarrhea, Hepatic steatosis, Decreased proportion ...	OMIM:619573
Heterotaxy, Visceral, 2, Autosomal	Asplenia, Abdominal situs inversus, Intestinal malrotation, Polysplenia	OMIM:605376
Immunodeficiency 62	Autoimmune thrombocytopenia, Decreased circulating total IgM, Increased proportion of transitiona...	OMIM:618459
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t...	OMIM:611926
Parenteral Nutrition-Associated Cholestasis	Hepatomegaly, Villous atrophy, Portal hypertension, Abdominal pain, Biliary hyperplasia, Splenome...	ORPHA:567983
Trehalase Deficiency	Abdominal pain, Malabsorption, Abdominal distention, Diarrhea, Vomiting	ORPHA:103909
Lissencephaly Syndrome, Norman-Roberts Type	Microretrognathia, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly...	ORPHA:89844
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the dentition, Celiac di...	OMIM:615952
Rosaï-Dorfman Disease	Dysgammaglobulinemia, Anemia, Lymphadenopathy	ORPHA:158014
Stormorken Syndrome	Howell-Jolly bodies, Asplenia, Anemia, Short philtrum, Hypoplastic spleen, Thrombocytopenia	OMIM:185070
Immunodeficiency 95	Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Majeed Syndrome	Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Malabsorption, Splenomegaly, Leukocytosis,...	ORPHA:77297
Bile Acid Synthesis Defect, Congenital, 6	Steatorrhea	OMIM:617308
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ...	OMIM:209950
Pseudomyxoma Peritonei	Abnormal peritoneum morphology, Intestinal obstruction, Weight loss, Lymphadenopathy, Inflammatio...	ORPHA:26790
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Increased circulating IgE level, Duodenitis, Bloody diarrhea	OMIM:614328
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Impaired Ig class switch reco...	OMIM:608184
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac...	OMIM:308240
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level	OMIM:247800
Netherton Syndrome	Villous atrophy, Increased circulating IgE level, Hypereosinophilia, Decreased circulating IgG le...	OMIM:256500
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to...	OMIM:620210
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:601859
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of...	OMIM:260400
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Dependency on intravenous nutrition, Gastritis, Increased mean pla...	ORPHA:84064
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Increased mean platelet volume, Abnormality of the pancreas, Splen...	OMIM:222470
Agammaglobulinemia 3, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating...	OMIM:613501
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Chronic diarrhea, Duodenal ulcer, Steatorrhea, Malabsorption	ORPHA:3217
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Trichothiodystrophy 3, Photosensitive	Natal tooth, Meckel diverticulum, Increased circulating IgA level, Carious teeth, Pyloric stenosi...	OMIM:616395
Cyclic Neutropenia	Premature loss of permanent teeth, Sinusitis, Cyclic neutropenia, Abdominal pain, Perianal absces...	ORPHA:2686
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, Pure red cell aplasia, Autoimmune ...	ORPHA:436159
Lysinuric Protein Intolerance	Hepatomegaly, Hypertriglyceridemia, Decreased response to growth hormone stimulation test, Thromb...	ORPHA:470
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi...	OMIM:619377
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero...	OMIM:175500
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Increased circulating IgA level, Abnormal circulating IgM level, Lymphad...	OMIM:618048
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Villous atrophy, Autoimmune thrombocytopenia, Diarrhea, Esophageal c...	ORPHA:391487
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat...	OMIM:617241
48,Xxyy Syndrome	Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth...	ORPHA:10
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis	OMIM:269600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Protruding tongue, Micrognathia, Malabsorption, Diarrhea, T lymphocytopenia, Macroglos...	OMIM:242860
Immunodeficiency, Common Variable, 2	Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De...	OMIM:240500
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia	ORPHA:37748
Mitochondrial Neurogastrointestinal Encephalomyopathy	Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Cachexia, Atrophic muscu...	ORPHA:298
Immunodeficiency 102	Decreased circulating IgG level, Hepatomegaly, Partial absence of specific antibody response to H...	OMIM:301082
Immunodeficiency 60 And Autoimmunity	Pancytopenia, Splenomegaly, Chronic diarrhea, Ulcerative colitis, Decreased circulating total IgM...	OMIM:618394
Agammaglobulinemia 2, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati...	OMIM:613500
Spinocerebellar Ataxia, Autosomal Recessive 20	Delayed eruption of teeth, Hepatomegaly, Dental crowding, Splenomegaly, Macroglossia, Thick vermi...	OMIM:616354
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Follicular Lymphoma	Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Fanconi Anemia, Complementation Group W	Decreased response to growth hormone stimulation test, Polysplenia, Duodenal atresia	OMIM:617784
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Abnormality of the dentition, Micrognathia, Feeding difficulties in infancy, Eru...	ORPHA:476126
Proprotein Convertase 1/3 Deficiency	Villous atrophy, Decreased circulating cortisol level, Diarrhea, Malabsorption	OMIM:600955
Cholestasis, Progressive Familial Intrahepatic, 1	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Diarrhea, ...	OMIM:211600
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto...	OMIM:613011
Laryngeal Neuroendocrine Tumor	Weight loss, Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-phar...	ORPHA:100083
Cholestasis, Progressive Familial Intrahepatic, 3	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammatio...	OMIM:602347
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the...	ORPHA:199306
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Decreased circulating IgG level, Persistence of primary teeth, Supernumerary tooth, Increased cir...	OMIM:619752
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Auto...	ORPHA:331206
Dyskeratosis Congenita	Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, Periodontitis, Hepatome...	ORPHA:1775
Agammaglobulinemia 8A, Autosomal Dominant	Agammaglobulinemia, B lymphocytopenia	OMIM:616941
Hennekam Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Malabsorp...	ORPHA:2136
Multicentric Reticulohistiocytosis	Cachexia, Histiocytosis	ORPHA:139436
Dentin Dysplasia, Type I	Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia...	OMIM:125400
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Igg4-Related Submandibular Gland Disease	Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ...	ORPHA:449432
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye...	ORPHA:2585
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Meckel diverticulum, Intestinal malrotation, Micrognathia, Asplenia, Cleft lip, Esophageal atresi...	OMIM:265380
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth	ORPHA:3238
Agammaglobulinemia 10, Autosomal Dominant	Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ...	OMIM:619707
Solitary Rectal Ulcer Syndrome	Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Anemia, Chr...	ORPHA:209964
Lactase Deficiency, Congenital	Lactose intolerance, Diarrhea, Decreased small intestinal mucosa lactase level	OMIM:223000
Splenogonadal Fusion With Limb Defects And Micrognathia	Crowded maxillary incisors, Multiple unerupted teeth, Stillbirth, Micrognathia	OMIM:183300
Immunodeficiency 15A	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:618204
Zimmermann-Laband Syndrome	Hepatomegaly, Micrognathia, Splenomegaly, Supernumerary tooth, Gingival fibromatosis, Cleft palat...	ORPHA:3473
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cog7-Cdg	Hepatomegaly, Micrognathia, Jaundice, Diarrhea, Hepatosplenomegaly, Feeding difficulties, Narrow ...	ORPHA:79333
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia...	ORPHA:507
Homozygous 11P15-P14 Deletion Syndrome	Feeding difficulties in infancy, Diarrhea, Abnormal intestine morphology, Vomiting	OMIM:606528
Meckel Syndrome, Type 1	Accessory spleen, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Malformation of ...	OMIM:249000
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor...	OMIM:612840
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	ORPHA:70593
Neuronal Intestinal Pseudoobstruction	Natal tooth, Decreased circulating antibody level, Malabsorption	ORPHA:99811
Jejunal Atresia	Jejunal atresia	OMIM:243600
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A...	OMIM:603909
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Growth delay	ORPHA:79238
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Abdominal pain, Increased circ...	ORPHA:343
Abetalipoproteinemia	Hepatomegaly, Reticulocytosis, Hypocholesterolemia, Acanthocytosis, Chronic diarrhea, Hepatic fib...	ORPHA:14
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Constipation, Anemia	OMIM:614450
Immunodeficiency 57 With Autoinflammation	Gastritis, Perianal abscess, Diarrhea, Decreased circulating antibody level, T lymphocytopenia, I...	OMIM:618108
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,...	ORPHA:2896
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Biliary tract a...	ORPHA:79301
Otodental Dysplasia	Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia...	OMIM:166750
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Stillbirth, Hepati...	OMIM:615415
Sucrase-Isomaltase Deficiency, Congenital	Abdominal pain, Diarrhea, Malabsorption	OMIM:222900
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Oral ulcer, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia	OMIM:616744
Agammaglobulinemia 6, Autosomal Recessive	Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni...	OMIM:612692
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D...	OMIM:615122
Pancreatic Triacylglycerol Lipase Deficiency	Abdominal pain, Abdominal distention, Diarrhea, Iron deficiency anemia, Colitis, Steatorrhea, Exo...	ORPHA:309031
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat...	ORPHA:2025
Transcobalamin Deficiency	Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,...	ORPHA:859
Lymphangiectasia, Intestinal	Decreased circulating IgG level, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Abdominal distention, Diarrhea, Cryptorchidism, Cholestasis, Anemia, Protein-losing...	OMIM:608104
Stromme Syndrome	Accessory spleen, Jejunal atresia, Intestinal malrotation, Micrognathia, Cleft palate, Wide mouth...	OMIM:243605
Kaposi Sarcoma	Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Abnormality of the spleen...	ORPHA:33276
Immunodeficiency 44	Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati...	OMIM:616636
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Diarrhea, Retrognathia, Decreased circulating antibody level, Decreased circulating total IgM, Hi...	OMIM:614069
Microvillus Inclusion Disease	Abdominal distention, Villous atrophy, Abnormal small intestinal villus morphology, Diarrhea	ORPHA:2290
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Portal hypertension, Malabsorp...	ORPHA:131
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Increase...	ORPHA:263665
Immunodeficiency 54	Splenomegaly, Hepatomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Hepatosplenomegaly, Thrombocytosis, Anemia	OMIM:618963
Pancreatic Agenesis 2	Exocrine pancreatic insufficiency, Pancreatic hypoplasia, Steatorrhea, Pancreatic aplasia	OMIM:615935
Immunodeficiency, Common Variable, 13	Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level	OMIM:616873
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Thin upper lip vermilion, Pancreatic fibrosis, Hepatic fibrosis, Steatorrhea, Hepat...	OMIM:616263
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Abnormality of the spleen, Diarrhea, M...	ORPHA:79456
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Splenom...	ORPHA:3386
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulat...	OMIM:226300
Tetraamelia Syndrome 1	Cleft upper lip, Asplenia, Micrognathia, Cleft palate, Adrenal gland agenesis, Anal atresia	OMIM:273395
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Persistence of primary teeth, Hiatus hernia, Feeding difficulties, Persistence o...	OMIM:619769
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Thin upper lip vermilion, Thyroid lymphangiectasia, Micrognathia, Splenomegaly, Pan...	OMIM:235255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia	OMIM:601457
Intestinal Dysmotility Syndrome	Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d...	OMIM:620045
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene...	ORPHA:2863
X-Linked Agammaglobulinemia	Recurrent cutaneous abscess formation, Sinusitis, Abnormality of the tonsils, Malabsorption, Thro...	ORPHA:47
Whim Syndrome	Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Lymphadenitis, Abnormal neu...	ORPHA:51636
Pancreatitis, Hereditary	Abdominal pain, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Exocr...	OMIM:167800
Melioidosis	Brain abscess, Liver abscess, Lung abscess, Abnormality of the spleen, Hepatitis, Abnormal paroti...	ORPHA:31202
Kikuchi-Fujimoto Disease	Abnormality of the gastrointestinal tract, Hepatomegaly, Generalized lymphadenopathy, Anorexia, T...	ORPHA:50918
Classic Mycosis Fungoides	Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Pancytopenia, Impaired T cell function, Abnormal cortical gyration, Splenomegaly, C...	OMIM:614576
Autoinflammatory Disease, Systemic, X-Linked	Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc...	OMIM:301081
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Celiac disease, Xerostomia, H...	ORPHA:227990
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Abnormal im...	ORPHA:276
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Alg6-Cdg	Jaundice, Feeding difficulties, Macroglossia, Abnormality of the liver, Protein-losing enteropathy	ORPHA:79320
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Malabsorption, Atypical ...	ORPHA:83471
Mucopolysaccharidosis, Type Ii	Delayed eruption of teeth, Hepatomegaly, Intestinal pseudo-obstruction, Splenomegaly, Diarrhea, T...	OMIM:309900
Failure Of Tooth Eruption, Primary	Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth	OMIM:125350
Autosomal Agammaglobulinemia	Sinusitis, Malabsorption, Diarrhea, Hepatitis, Agammaglobulinemia, High palate, Neutropenia	ORPHA:33110
Small Bowel Atresia	Intestinal hypoplasia, Jejunal atresia, Intestinal malrotation, Short stature, Intrauterine growt...	ORPHA:1201
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:319487
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec...	OMIM:618935
Immunodeficiency With Hyper-Igm, Type 1	Oral ulcer, Gingivitis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, ...	OMIM:308230
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells...	OMIM:312863
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Eosinophilia, Hepatitis, Hepatosplenomegaly, Increased circulati...	ORPHA:169160
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus, Duodenal atresia	ORPHA:3004
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia...	ORPHA:227982
Angioedema, Hereditary, 8	Abdominal pain, Diarrhea, Episodic vomiting, Swollen lip	OMIM:619367
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Tooth agenes...	ORPHA:2325
Sapho Syndrome	Malabsorption, Abdominal pain, Craniofacial osteosclerosis, Chronic diarrhea, Inflammation of the...	ORPHA:793
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Hypertriglyceridemia, Delayed eruption of prim...	ORPHA:819
Gigantiform Cementoma, Familial	Cementoma, Tooth malposition, Multiple impacted teeth	OMIM:137575
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Colon cancer, Nodular goit...	ORPHA:97290
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of neutrophils, Malabso...	ORPHA:33226
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hepatomegaly, Dental crowding, Micrognathia, Persistence of primary teeth, Thick lower lip vermil...	OMIM:618342
Pseudoaminopterin Syndrome	Micrognathia, Asplenia, Nasogastric tube feeding in infancy, Cryptorchidism, Orofacial cleft, Hig...	ORPHA:221120
Renpenning Syndrome	Severe short stature, Cachexia, High, narrow palate, Cleft palate, Growth delay, Decreased testic...	ORPHA:3242
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leu...	OMIM:615285
Enteric Anendocrinosis	Portal hypertension, Malabsorption, Diarrhea, Cholestatic liver disease, Vomiting	ORPHA:83620
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Abnormality of the dentition, Malabsorption, Abnormality of the pancre...	ORPHA:2315
Cystic Fibrosis	Sinusitis, Meconium ileus, Malabsorption, Rectal prolapse, Abnormality of the liver, Gastroesopha...	ORPHA:586
Ciliary Dyskinesia, Primary, 1	Asplenia, Chronic sinusitis, Absent frontal sinuses	OMIM:244400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin...	OMIM:102700
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Intestinal inflammation, Chronic diarrhea, Hepatosplenomegaly, Cholestatic liver di...	OMIM:619858
Amelogenesis Imperfecta, Type Ia	Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta	OMIM:104530
Inflammatory Bowel Disease (Crohn Disease) 1	Intestinal obstruction, Abdominal pain, Aphthous ulcer, Diarrhea, Ulcerative colitis, Inflammatio...	OMIM:266600
Mirage Syndrome	Cryptorchidism, Esophageal stricture, Chronic diarrhea, Anemia, Leukopenia, Gastroesophageal refl...	OMIM:617053
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Peptic ulcer...	ORPHA:98849
Oculoskeletodental Syndrome	Hepatomegaly, Splenomegaly, Cryptorchidism, Macroglossia, Oligodontia, Protein-losing enteropathy	OMIM:618440
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Thromboc...	ORPHA:824
Gapo Syndrome	Hepatomegaly, Micrognathia, High, narrow palate, Thick lower lip vermilion, Eruption failure, Hyp...	OMIM:230740
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse...	ORPHA:35078
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Abdominal pain, Diarrhea, Premature loss o...	ORPHA:486
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph...	ORPHA:54251
Al Amyloidosis	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Howell-Joll...	ORPHA:85443
Elsahy-Waters Syndrome	Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Anal stenosis, Hypopl...	OMIM:211380
Feingold Syndrome 2	Postnatal growth retardation, Short stature, Intestinal atresia	OMIM:614326
Immunodeficiency, Common Variable, 7	Splenomegaly, Chronic (near) absent circulating IgG4, Chronic diarrhea, Reduced isohemagglutinin ...	OMIM:614699
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno...	ORPHA:2494
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating...	OMIM:610163
Chronic Intestinal Pseudoobstruction	Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation, Abnormal platelet morpho...	ORPHA:2978
Mpi-Cdg	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Diarrhea, Hepatic fibrosis, Prote...	ORPHA:79319
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Spinocerebellar Ataxia 48	Cachexia, Dysphagia	OMIM:618093
Catifa Syndrome	Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp...	OMIM:618761
Marbach-Rustad Progeroid Syndrome	Delayed eruption of primary teeth, Micrognathia, Poor appetite, Eruption failure, Hypodontia, Nar...	OMIM:619322
Hereditary Amyloidosis With Primary Renal Involvement	Abnormality of the gastrointestinal tract, Hepatomegaly, Gastrointestinal hemorrhage, Intestinal ...	ORPHA:85450
Trichodentoosseous Syndrome	Microdontia, Taurodontia, Widely spaced teeth	OMIM:190320
Otopalatodigital Syndrome, Type I	Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Narrow m...	OMIM:311300
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Jejunal atresia, Intestinal malrotation, Malabsorption, ...	OMIM:615710
Whipple Disease	Gastrointestinal hemorrhage, Hepatomegaly, Cachexia, Malabsorption, Mediastinal lymphadenopathy, ...	ORPHA:3452
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Alexander Disease Type I	Failure to thrive, Cachexia, Dysphagia	ORPHA:363717
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Eosinophilia, Persistence of primary teeth, Increased circulating IgE level, High palate, Cutaneo...	OMIM:147060
Congenital Bile Acid Synthesis Defect Type 3	Jaundice, Cholestasis, Hepatosplenomegaly, Bile duct proliferation, Cirrhosis, Fat malabsorption,...	ORPHA:79302
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Anorex...	OMIM:181000
Aredyld Syndrome	Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation	ORPHA:1133
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti...	ORPHA:1333
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Thin upper lip vermilion, Micrognathia, Splenomegaly, Pancreatic lymphangiectasis, ...	ORPHA:1655
Meckel Syndrome	Accessory spleen, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Micrognathia, Asplenia, ...	ORPHA:564
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neoplasm of the rectum, Neoplasm...	ORPHA:424019
Idiopathic Achalasia	Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:930
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Short stature, Cachexia	ORPHA:1144
5-Oxoprolinase Deficiency	Diarrhea, Vomiting, Enterocolitis, Abdominal pain	OMIM:260005
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion	OMIM:141300
Ring Chromosome 10 Syndrome	Intrauterine growth retardation, Aganglionic megacolon, Cachexia	ORPHA:1438
Juvenile Polyposis Of Infancy	Gastrointestinal hemorrhage, Refractory anemia, Short stature, Cachexia, High, narrow palate, Rec...	ORPHA:79076
Rutherfurd Syndrome	Failure of eruption of permanent teeth, Delayed eruption of primary teeth	OMIM:180900
Sézary Syndrome	Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m...	ORPHA:3162
Acquired Hypertrichosis Lanuginosa	Poor appetite, Chronic diarrhea, Lymphadenopathy, Ovarian neoplasm, Macroglossia, Glossitis	ORPHA:2221
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T...	OMIM:619767
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly	ORPHA:56425
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Tooth Agenesis, Selective, 9	Microdontia, Taurodontia, Selective tooth agenesis	OMIM:617275
Sea-Blue Histiocytosis	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia	ORPHA:158029
Osteoglosphonic Dysplasia	Tooth agenesis, Multiple unerupted teeth, Cryptorchidism, Micrognathia	ORPHA:2645
Eiken Syndrome	Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee...	OMIM:600002
Cheilitis Glandularis	Abnormal salivary gland morphology, Thick lower lip vermilion	ORPHA:1221
Lig4 Syndrome	Hepatomegaly, Pancytopenia, Micrognathia, Malabsorption, Cryptorchidism, Leukocytosis, Lymphadeno...	ORPHA:99812
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Constipation	ORPHA:99745
Tetrasomy 12P	Abnormal soft palate morphology, Cachexia, Short stature, Anal atresia	ORPHA:884
Cutaneous Photosensitivity And Colitis, Lethal	Diarrhea, Colitis	OMIM:219095
Cholestasis-Lymphedema Syndrome	Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Hyperlipidemia, Cirrhosis, Neonatal cholesta...	OMIM:214900
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Immunodeficiency 11B With Atopic Dermatitis	Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Ulcerative colitis, Decreased ci...	OMIM:617638
Heterotaxy, Visceral, 1, X-Linked	Hepatomegaly, Asplenia, Posteriorly placed anus, Biliary atresia, Abdominal situs inversus, Polys...	OMIM:306955
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
48,Xxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96263
Heterotaxy, Visceral, 5, Autosomal	Intestinal malrotation, Asplenia, Abdominal situs inversus, Abdominal situs ambiguus, Duodenal at...	OMIM:270100
Moynahan Syndrome	Short stature, Cachexia	ORPHA:2574
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Graft Versus Host Disease	Abdominal pain, Trismus, Jaundice, Diarrhea, Oral ulcer, Lymphadenopathy, Chronic hepatitis, Hepa...	ORPHA:39812
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia	ORPHA:217390
Classic Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Good Syndrome	Abnormal leukocyte morphology, Sinusitis, Mediastinal lymphadenopathy, Thrombocytopenia, Diarrhea...	ORPHA:169105
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Diarrhea 8, Secretory Sodium, Congenital	Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium	OMIM:616868
Igg4-Related Ophthalmic Disease	Sinusitis, Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis,...	ORPHA:449563
Pleural Mesothelioma	Hepatomegaly, Weight loss, Lymphadenopathy, Dysphagia	ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iij	Hepatomegaly, Splenomegaly, Chronic diarrhea, Feeding difficulties, Cirrhosis, Hepatic failure, R...	OMIM:613489
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Delayed eruption of teeth, Pericardial lymphangiectasia, Thyroid lymphangiectasia, Pachygyria, Cr...	OMIM:235510
Selective Igm Deficiency	Lymphadenitis, Paraproteinemia, Decreased proportion of transitional B cells, Stomach cancer, Dec...	ORPHA:331235
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Agammaglobulinemia 7, Autosomal Recessive	Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia	OMIM:615214
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Abnormality of the dentition, Esophageal stricture, Chronic diarrh...	OMIM:613989
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Mediastinal lymphadenopa...	ORPHA:3392
Salivary Gland Adenoma, Pleomorphic	Salivary gland neoplasm	OMIM:181030
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Dental crowding, Feeding difficulties in infancy, Wide mouth, Chronic ...	OMIM:618825
Christianson Syndrome	Gastroesophageal reflux, Cachexia, Dysphagia	ORPHA:85278
Congenital Toxoplasmosis	Hepatomegaly, Jaundice, Diarrhea, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ...	OMIM:619705
Trisomy 9P	Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth	ORPHA:236
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Chronic hepatitis due to cryptosporidium in...	ORPHA:572
49,Xxxxy Syndrome	Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C...	ORPHA:96264
Cranioectodermal Dysplasia 4	Thin vermilion border, Bone marrow hypocellularity, Smooth philtrum, Taurodontia	OMIM:614378
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Short stature, Aganglionic megacolon, Failure to th...	ORPHA:388
Igg4-Related Dacryoadenitis And Sialadenitis	Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Xero...	ORPHA:79078
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Anisocytosis, Malar prominence, Hepatic fibrosis, Hyperplasia of th...	ORPHA:231226
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Hepatomegaly, Diarrhea, Vomiting	OMIM:605911
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Simplified gyral pattern, T lymphocytopenia, B lymphocytopenia, Pachygyria, Abnormal natural kill...	OMIM:615966
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Abnormal salivary gland morphology	ORPHA:3225
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Abdominal pain...	ORPHA:342
Immunodeficiency 15B	Agammaglobulinemia, Monocytosis, Reduced natural killer cell count, Decreased circulating antibod...	OMIM:615592
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Intestinal malrotation, Abnormality of the dentition, Feeding difficul...	ORPHA:2712
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Immunodeficiency 40	Hepatomegaly, Rectal fistula, Chronic diarrhea, Eosinophilic granuloma, T lymphocytopenia, Macrov...	OMIM:616433
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec...	ORPHA:381
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Micrognathia, Retrognathia, Feeding difficulties, Dysphagia, Meckel diverticulum, Poor suck, Naso...	ORPHA:163961
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia	OMIM:616029
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Snijders Blok-Campeau Syndrome	Feeding difficulties, Taurodontia, High palate, Widely spaced teeth, Enamel hypoplasia	OMIM:618205
Cog4-Cdg	Fatal liver failure in infancy, Hypercholesterolemia, Hepatosplenomegaly, Feeding difficulties, C...	ORPHA:263501
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Pediatric Systemic Lupus Erythematosus	Abnormality of the gastrointestinal tract, Abdominal pain, Abdominal distention, Diarrhea, Oral u...	ORPHA:93552
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Mandibular prognathia, Malnutrition, Feeding difficulties, Gastroesophageal reflux, Intermittent ...	OMIM:619971
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Abnormal erythrocyte enzyme level, Splenomegaly, Diarrhea, Es...	ORPHA:264580
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Gastritis, Failure to thrive in infancy, Cachexia, Malabsorption, Au...	ORPHA:37042
Mucopolysaccharidosis, Type Iiic	Hepatomegaly, Splenomegaly, Diarrhea, Everted lower lip vermilion, Dysphagia	OMIM:252930
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc...	OMIM:613179
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Alg9-Cdg	Microretrognathia, Hepatomegaly, Smooth philtrum, Thin upper lip vermilion, Villous atrophy, Micr...	ORPHA:79328
Boutonneuse Fever	Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased...	ORPHA:83313
Vascular Hyalinosis	Hematochezia, Diarrhea, Protein-losing enteropathy, Malabsorption	OMIM:277175
Axial Mesodermal Dysplasia Spectrum	Micrognathia, Abnormality of the spleen, Anorectal anomaly, Gingival overgrowth, Tracheoesophagea...	ORPHA:1834
Shigellosis	Acute colitis, Abscess, Anorexia, Abdominal pain, Intestinal perforation, Leukocytosis, Peritonit...	ORPHA:810
Progressive Nodular Histiocytosis	Cachexia	ORPHA:158022
Cranioectodermal Dysplasia	Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v...	ORPHA:1515
Secretory Component Deficiency	Intermittent diarrhea, Secretory IgA deficiency	OMIM:269650
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome	Gastritis, Micrognathia, Abnormal erythrocyte morphology, Folate-unresponsive megaloblastic anemi...	ORPHA:2575
Hereditary Folate Malabsorption	Nausea and vomiting, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Diarrhea, Cheili...	ORPHA:90045
Aa Amyloidosis	Hepatomegaly, Abnormal oral mucosa morphology, Malabsorption, Abdominal pain, Chronic diarrhea, M...	ORPHA:85445
Neuroendocrine Neoplasm Of Appendix	Anorexia, Poor appetite, Adenocarcinoma of the colon, Hepatomegaly, Abdominal colic, Functional i...	ORPHA:100079
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy	Cachexia	ORPHA:1216
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Failure to thrive, Cachexia, Weight loss	OMIM:612075
X-Linked Creatine Transporter Deficiency	Cachexia, Ileus, Aganglionic megacolon, Short stature	ORPHA:52503
Beta-Thalassemia Major	Extramedullary hematopoiesis, Malar prominence, Hepatic fibrosis, Hyperplasia of the maxilla, Hyp...	ORPHA:231214
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Immunodeficiency 59 And Hypoglycemia	Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne...	OMIM:233600
Immunodeficiency 43	Decreased circulating IgG level, Lung abscess, Decreased specific antibody response to polysaccha...	OMIM:241600
Rubinstein-Taybi Syndrome 2	Intestinal malrotation, Micrognathia, Carious teeth, Talon cusp, Dental malocclusion, Narrow pala...	OMIM:613684
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Chylous Ascites	Abnormal intestine morphology, Pancreatitis	ORPHA:1160
Riboflavin Transporter Deficiency	Cachexia, Dysphagia	ORPHA:97229
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic diarrhea, Chro...	OMIM:615607
Matthew-Wood Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal stenosis, Abnormal spleen morphology...	ORPHA:2470
Trehalase Deficiency	Diarrhea, Abdominal pain	OMIM:612119
Coffin-Siris Syndrome 2	Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Cleft palate, Feeding diffi...	OMIM:614607
Brooke-Spiegler Syndrome	Abnormality of the sublingual glands, Abnormality of the submandibular glands, Salivary gland neo...	ORPHA:79493
Immunodeficiency 81	Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h...	OMIM:619374
Muir-Torre Syndrome	Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma sebaceum, Colon ...	ORPHA:587
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho...	OMIM:617591
Immunodeficiency 92	Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S...	OMIM:619652
Lowry-Maclean Syndrome	Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Abnormality of the ab...	ORPHA:2409
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Polycystic ovaries, Advanced eruption of teeth,...	ORPHA:2348
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Volvulus, Dysphagia, Micrognathia	OMIM:617802
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections	Dental crowding, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Macroglossia	OMIM:618523
Alg1-Cdg	Abnormality of the gastrointestinal tract, Chronic diarrhea, Protein-losing enteropathy, Decrease...	ORPHA:79327
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Diencephalic Syndrome	Cachexia, Decreased body weight	ORPHA:1672
Hypodontia-Dysplasia Of Nails Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio...	ORPHA:2228
Dpm1-Cdg	Hepatomegaly, Tented upper lip vermilion, Micrognathia, High, narrow palate, Diarrhea, Hepatosple...	ORPHA:79322
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, Agammaglobulinemia, T lymphocytopenia, Lymph nod...	OMIM:300755
4H Leukodystrophy	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Abnormality of ...	ORPHA:289494
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate, Weight loss	ORPHA:141152
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ...	OMIM:616084
Amoebiasis Due To Entamoeba Histolytica	Intestinal obstruction, Liver abscess, Lung abscess, Acute colitis, Abdominal pain, Leukocytosis,...	ORPHA:67
Mcdonough Syndrome	Cryptorchidism, Short stature, Cachexia	ORPHA:2471
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over...	ORPHA:420561
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Hyper-Igd Syndrome	Neutrophilia, Abdominal pain, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splen...	OMIM:260920
Neuropathy, Congenital Hypomyelinating, 3	Cachexia, Narrow palate, Gastroesophageal reflux, High palate, Neonatal death	OMIM:618186
Familial Mediterranean Fever	Hepatomegaly, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Ap...	OMIM:249100
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati...	OMIM:617099
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Right Atrial Isomerism	Asplenia, Abdominal situs ambiguus, Polysplenia	OMIM:208530
Macrophage Activation Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr...	ORPHA:158061
Osteoglophonic Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Erup...	OMIM:166250
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	OMIM:157980
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M...	ORPHA:2972
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Congenital Enterocyte Heparan Sulfate Deficiency	Hematochezia, Protein-losing enteropathy, Weight loss	ORPHA:103910
Pyle Disease	Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy...	OMIM:265900
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple...	ORPHA:232
Osteopetrosis, Autosomal Recessive 2	Mandibular prognathia, Pancytopenia, Extramedullary hematopoiesis, Persistence of primary teeth, ...	OMIM:259710
Glycogen Storage Disease Ixb	Splenomegaly, Hepatomegaly, Diarrhea, Increased hepatic glycogen content	OMIM:261750
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Acute pancreatitis, Poor appetite, Abdominal pain, Diarrhea, Hepatit...	ORPHA:319218
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Abnormal dental enamel morphology, Narrow palate	ORPHA:3019
Rabies	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:770
Congenital Disorder Of Glycosylation, Type Ii	Hepatomegaly, Diarrhea, Iron deficiency anemia, Gastroesophageal reflux, High palate, Nasogastric...	OMIM:607906
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Feeding difficulties i...	ORPHA:534
Fryns Syndrome	Microretrognathia, Tented upper lip vermilion, Ectopic pancreatic tissue, Aganglionic megacolon, ...	OMIM:229850
Taurodontism	Taurodontia	OMIM:272700
Secondary Intestinal Lymphangiectasia	Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi...	ORPHA:90363
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, Agenesis of incisor, Tau...	ORPHA:3352
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Mandibular prognathia, Microcytic anemia, Deep philtrum, Hepatosplenomegaly, Lymphadenopathy, Dec...	OMIM:619750
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Cryptorchidism, Anemia, Leukopenia, Bone m...	OMIM:603467
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Feeding difficultie...	OMIM:613385
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:85414
Pycnodysostosis	Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption...	ORPHA:763
Sepsis In Premature Infants	Hepatomegaly, Splenomegaly, Leukocytosis, Jaundice, Gastrointestinal dysmotility, Enterocolitis, ...	ORPHA:90051
Brachydactyly, Type E1	Multiple impacted teeth	OMIM:113300
Lissencephaly, X-Linked, 2	Thin upper lip vermilion, Micrognathia, Feeding difficulties in infancy, Diarrhea, High palate, L...	OMIM:300215
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Neutropenia, Monocytopen...	ORPHA:2688
Chronic Granulomatous Disease	Hepatomegaly, Liver abscess, Sinusitis, Abnormality of neutrophils, Malabsorption, Splenomegaly, ...	ORPHA:379
Malakoplakia	Abdominal pain, Follicular hyperplasia, Orchitis, Diarrhea, Abnormality of the tongue, Neoplasm o...	ORPHA:556
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Isolated Biliary Atresia	Hepatomegaly, Hypopituitarism, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Xanthela...	ORPHA:30391
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Abdominal pain, Perianal abscess, Diarrhea, Oral ulcer, Iron deficiency anemia...	OMIM:301074
Rhabdoid Tumor	Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Diarrh...	ORPHA:32960
Coffin-Siris Syndrome 3	Cleft palate, Feeding difficulties, Wide mouth, Macroglossia, Delayed eruption of permanent teeth...	OMIM:614608
Malignant Peritoneal Mesothelioma	Peritonitis, Ileus, Weight loss	ORPHA:168811
Hypertrichosis Lanuginosa Congenita	Delayed eruption of teeth, Gingival overgrowth, Abnormality of the dentition	ORPHA:2222
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Nausea and vomiting, Abdominal pain, Diarrhea, Leukope...	ORPHA:99828
Anaplastic Thyroid Carcinoma	Tracheoesophageal fistula, Lymphadenopathy, Weight loss, Dysphagia, Nodular goiter, Goiter	ORPHA:142
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Decreased...	OMIM:617780
Rapp-Hodgkin Syndrome	Supernumerary nipple, Cleft upper lip, Hypoplasia of the maxilla, Conical tooth, Velopharyngeal i...	OMIM:129400
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Duodenal polyposis, Supernumerary tooth, Adenomatous colonic polyposis,...	ORPHA:247806
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Abnormal mandible morphology, Cleft palate	OMIM:217150
Dyskeratosis Congenita, Autosomal Recessive 5	Esophageal stenosis, Postnatal growth retardation, Leukopenia, Colitis, Bone marrow hypocellulari...	OMIM:615190
Dextrocardia	Meckel diverticulum, Intestinal malrotation, Abnormality of the spleen, Abnormality of abdominal ...	ORPHA:1666
Tooth Agenesis, Selective, 3	Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia	OMIM:604625
Thoraco-Abdominal Enteric Duplication	Hepatomegaly, Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Gingival Fibromatosis-Hypertrichosis Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth, Abnormality of the dentition	ORPHA:2026
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Gastrointestinal dysmotility...	ORPHA:2152
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Abdominal pain, Lymphadenitis, Leukocytosis, Splenomegaly, Chronic diarrhea, Choles...	OMIM:615895
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Ataxia-Telangiectasia	Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level	ORPHA:100
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Colonic diverticula, Intestinal pseudo-obstruction, Cachexia, Malabsorption, Intestinal perforati...	OMIM:603041
B4Galt1-Cdg	Hepatomegaly, Thin upper lip vermilion, Splenomegaly, Diarrhea, Long philtrum	ORPHA:79332
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abdominal pain, Rectal prolapse, Biliary tract abnorma...	OMIM:175200
Emanuel Syndrome	Broad jaw, Dental crowding, Intestinal malrotation, Delayed eruption of primary teeth, Micrognath...	OMIM:609029
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Short philtrum, Bifid uvula,...	ORPHA:261537
Short-Rib Thoracic Dysplasia 12	Hepatomegaly, Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Splenom...	OMIM:269860
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration	OMIM:221400
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities	Intermittent diarrhea, Hypodontia, Feeding difficulties	OMIM:620270
Medullary Thyroid Carcinoma	Diarrhea, Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Phe...	ORPHA:1332
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Open bite, Abnormality of dental eruption, Dental malocclusion, Downturned...	ORPHA:1327
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H...	OMIM:619736
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati...	ORPHA:1572
Trigonocephaly 1	High, narrow palate, Meckel diverticulum, Long philtrum	OMIM:190440
Dyskeratosis Congenita, Autosomal Recessive 8	Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto...	OMIM:620133
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Feeding difficulties, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced tee...	OMIM:617865
Macrocephaly/Autism Syndrome	Splenomegaly, Hepatomegaly, Lymphopenia, Decreased circulating antibody level	OMIM:605309
Polycythemia Vera	Gastrointestinal hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red bloo...	OMIM:263300
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Hypertriglyceridemia, Reduced natural killer cell activity, Splenomegaly, Jaundice,...	ORPHA:540
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Micr...	ORPHA:2059
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Acute colitis, Abdominal pain, Intestinal perforation, Leukocytosis, Schistocyto...	ORPHA:90038
Eec Syndrome	Abnormal dental enamel morphology, Decreased response to growth hormone stimulation test, Carious...	ORPHA:1896
Gingival Fibromatosis-Progressive Deafness Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth	ORPHA:2027
Leukodystrophy, Hypomyelinating, 24	B lymphocytopenia	OMIM:619851
Zygomycosis	Sinusitis, Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Brain absc...	ORPHA:73263
Momo Syndrome	Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala...	ORPHA:2563
Neurofibroma	Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding, Abnorma...	ORPHA:252183
Congenital Contractural Arachnodactyly	Intestinal malrotation, High palate, Tracheoesophageal fistula, Duodenal atresia	ORPHA:115
Ileal Neuroendocrine Tumor	Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic...	ORPHA:100078
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Pancreatitis...	OMIM:155310
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema...	OMIM:174900
Wiskott-Aldrich Syndrome	Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in...	OMIM:301000
Abetalipoproteinemia	Fat malabsorption, Acanthocytosis	OMIM:200100
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Oral ulcer, Gingivitis, Inflammation of the large intestine, Periodontitis, Hepatic steatosis, He...	ORPHA:79259
Nephroblastoma	Neoplasm of the liver, Weight loss, Lymphadenopathy	ORPHA:654
Specific Granule Deficiency 2	Absent neutrophil specific granules, Conical tooth, Anemia, Neutropenia, Intractable diarrhea, To...	OMIM:617475
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth...	ORPHA:2250
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Agenesis of molar, Supernumerary tooth, Cryptorchidism, Microdontia	OMIM:619718
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100082
Vascular Malformation, Primary Intraosseous	Ectopic tooth eruption, Gingival bleeding, Hypochromic anemia	OMIM:606893
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Diarrhea, Hepatocellular adenoma, Polycystic ov...	ORPHA:79240
Congenital Muscular Dystrophy Due To Lmna Mutation	Cachexia	ORPHA:157973
Silver-Russell Syndrome	Short stature, Failure to thrive in infancy, Cachexia, Postnatal growth retardation, Cryptorchidi...	ORPHA:813
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Porphyria Due To Ala Dehydratase Deficiency	Increased fecal coproporphyrin 3, Abdominal pain, Abnormal erythrocyte enzyme level, Abdominal di...	ORPHA:100924
Immunodeficiency 9	Chronic diarrhea, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenes...	OMIM:612782
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Weight loss	ORPHA:2023
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Micrognathia, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepat...	ORPHA:731
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Lymphopenia, Decreased circulating antibody level	ORPHA:1116
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Dubowitz Syndrome	Delayed eruption of teeth, Aplastic anemia, Micrognathia, Carious teeth, Feeding difficulties in ...	OMIM:223370
Emanuel Syndrome	Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Cryptorchidism, Submucous cl...	ORPHA:96170
Dentinogenesis Imperfecta	Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera...	ORPHA:49042
Mednik Syndrome	Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death, Volvulus, Mi...	OMIM:609313
Hemochromatosis, Type 3	Lymphopenia, Cirrhosis, Anemia, Neutropenia	OMIM:604250
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Feeding difficulties in infancy, Cryptorchidism, Triangular mouth, Cleft palate, Lo...	OMIM:257300
Bile Acid Synthesis Defect, Congenital, 4	Hepatomegaly, Giant cell hepatitis, Intrahepatic cholestasis, Hematochezia, Prolonged neonatal ja...	OMIM:214950
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Feeding difficulties, Wide mouth, Delayed eruption of permanent teeth, T...	OMIM:618506
Jacobsen Syndrome	Intestinal malrotation, Feeding difficulties in infancy, Thrombocytopenia, Pyloric stenosis, Cryp...	ORPHA:2308
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene...	OMIM:613849
Neuroendocrine Tumor Of Stomach	Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Poor appetite...	ORPHA:100075
Bent Bone Dysplasia Syndrome 1	Natal tooth, Micrognathia, Gingival overgrowth, Hepatosplenomegaly, Malar flattening	OMIM:614592
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia...	OMIM:615934
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Hepatomegaly, Abdominal pain, Cervical lymphadenopathy, Chronic diar...	OMIM:142680
Grfoma	Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome...	ORPHA:97261
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Intrauterine growth retardation, Failure to thrive in infancy, Cachexia	OMIM:616801
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, ...	OMIM:247200
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG...	ORPHA:3261
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Hematochezia, Bloody d...	OMIM:617718
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Bowel urgency, Abdominal pain, Lac...	ORPHA:100080
Fanconi Anemia, Complementation Group B	Aplastic anemia, Esophageal atresia, Tracheoesophageal fistula, Thrombocytopenia, Duodenal atresia	OMIM:300514
Colonic Atresia	Peptic ulcer, Abnormal mesentery morphology, Duodenal stenosis, Abdominal situs inversus, Colonic...	ORPHA:1198
Benign Recurrent Intrahepatic Cholestasis	Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci...	ORPHA:65682
Aarskog-Scott Syndrome	Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Abnormality of the dentiti...	ORPHA:915
Dubowitz Syndrome	Delayed eruption of teeth, Hypoparathyroidism, Anal stenosis, Abnormality of neutrophils, Microgn...	ORPHA:235
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous colonic polyposis, ...	ORPHA:329971
Rapadilino Syndrome	High, narrow palate, Diarrhea, Cleft palate, Feeding difficulties, High palate	OMIM:266280
Amelogenesis Imperfecta, Type Iv	Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth	OMIM:104510
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Asplenia, Cleft hard palate, Short philtrum, Bifid uvula,...	ORPHA:261552
Pulmonary Blastoma	Weight loss	ORPHA:64741
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Felty Syndrome	Hepatomegaly, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Snakebite Envenomation	Diarrhea, Neuromuscular dysphagia, Pseudobulbar paralysis, Vomiting, Gingival bleeding, Hypopitui...	ORPHA:449285
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Abnormal pituita...	ORPHA:64744
Benign Schwannoma	Intestinal polyposis, Abnormality of the liver, Abnormal parotid gland morphology, Abnormal esoph...	ORPHA:252164
Klatskin Tumor	Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss	ORPHA:99978
Adrenomyodystrophy	Hepatic steatosis, Failure to thrive, Abnormal intestine morphology, Short stature	ORPHA:977
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant	Celiac disease, Postnatal growth retardation, Short stature, Delayed puberty	OMIM:618985
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Carious teeth, Dysphagia, Widely spaced teeth, Ga...	OMIM:619229
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Thin upper lip vermilion, Mediastinal lymphadenopathy, Leukocytosis, Chronic diarrh...	OMIM:620233
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Hepatomegaly, Delayed eruption of teeth, Splenomegaly, Gingival overgrowth...	OMIM:135500
Sarcoidosis	Abnormality of the gastrointestinal tract, Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophili...	ORPHA:797
Mungan Syndrome	Barrett esophagus, Gastroparesis, Intestinal pseudo-obstruction, Hypoperistalsis, Abdominal pain,...	OMIM:611376
Adult-Onset Still Disease	Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B...	ORPHA:829
Brachycephaly, Trichomegaly, And Developmental Delay	Supernumerary tooth, Submucous cleft hard palate, Thick lower lip vermilion, Thin vermilion borde...	OMIM:617412
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Hepatic steatosis, Cachexia	ORPHA:42
Lead Poisoning	Delayed eruption of teeth, Anorexia, Abdominal pain, Abdominal distention, Increased circulating ...	ORPHA:330015
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Taurodontia, Short philtrum	ORPHA:3214
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Gastrointestinal stro...	ORPHA:139411
Glucose/Galactose Malabsorption	Hyperactive bowel sounds, Abdominal distention, Chronic diarrhea, Malabsorption	OMIM:606824
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Duodenal polyposis, Micrognathia, Abnormality of canine, Adenomatous colon...	ORPHA:261584
Spermatogenic Failure 81	Multiple non-erupting secondary teeth, Reduced progressive sperm motility	OMIM:620277
Carcinoid Syndrome	Nausea and vomiting, Chronic noninfectious lymphadenopathy, Lack of bowel sounds, Hepatic necrosi...	ORPHA:100093
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Portal hypertension, Abdominal pain, Splenomegaly, Leukocytosis, Apht...	OMIM:615688
Carpenter Syndrome 1	Persistence of primary teeth, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism, Agenesis o...	OMIM:201000
Cutaneous Mastocytoma	Abdominal pain, Diarrhea, Lymphadenopathy, Vomiting, Nausea	ORPHA:79455
Papa Syndrome	Increased circulating antibody level, Lymphadenopathy	ORPHA:69126
Combined Immunodeficiency-Enteropathy Spectrum	Autoimmune hemolytic anemia, Intestinal malrotation, Abdominal distention, Gastrointestinal atres...	ORPHA:436252
Maternal Uniparental Disomy Of Chromosome 4	Acanthocytosis, Abnormal erythrocyte morphology, Diarrhea, Malnutrition, Hypocholesterolemia, Fat...	ORPHA:96180
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Generaliz...	ORPHA:160
Alg8-Cdg	Abnormality of the gastrointestinal tract, Diarrhea, Feeding difficulties, Anemia, Macroglossia, ...	ORPHA:79325
Duplication Of The Pituitary Gland	Supernumerary tooth, Abnormal pituitary gland morphology, Abnormality of the tongue, Cleft palate...	ORPHA:314621
Agammaglobulinemia 1, Autosomal Recessive	Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, B lymphocytopenia, Re...	OMIM:601495
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short stature, Cachexia	ORPHA:1389
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Legionnaires Disease	Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan...	ORPHA:549
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hepatomegaly, Impaired T cell function, Poor appetite, Splenomegaly, Diarrhea, Hypogeusia, Decrea...	OMIM:201100
Hermansky-Pudlak Syndrome 2	Smooth philtrum, Hepatomegaly, Absent platelet dense granules, Thin upper lip vermilion, Reduced ...	OMIM:608233
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var...	ORPHA:2072
Cholestasis, Progressive Familial Intrahepatic, 9	Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest...	OMIM:619849
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ...	ORPHA:2769
Caroli Disease	Liver abscess, Cholangitis, Anorexia, Hepatic fibrosis, Vomiting, Nausea, Hepatomegaly, Portal hy...	ORPHA:53035
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Sneddon Syndrome	Decreased circulating total IgM, Lymphopenia	OMIM:182410
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's...	ORPHA:261494
Acrootoocular Syndrome	Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G...	ORPHA:2980
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ...	ORPHA:75564
Ataxia-Telangiectasia	Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ...	OMIM:208900
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Thrombocytopenia, Splenomegaly,...	OMIM:603553
Tremor-Ataxia-Central Hypomyelination Syndrome	Delayed eruption of teeth, Oligodontia, Hypodontia, Dysphagia	ORPHA:447896
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly...	ORPHA:160148
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Feeding difficulties, Widel...	OMIM:619797
Spondylocarpotarsal Synostosis Syndrome	Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate	OMIM:272460
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula	OMIM:612350
Agammaglobulinemia 9, Autosomal Recessive	Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells	OMIM:619693
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Portal hypertension,...	OMIM:620005
Autosomal Dominant Hyper-Ige Syndrome	Delayed eruption of teeth, Eosinophilia, Abnormality of the dentition, Increased circulating IgE ...	ORPHA:2314
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Increased circulating IgA level, Enlarged polycystic ovaries, Biliary cirrhosis...	ORPHA:2298
Igg4-Related Kidney Disease	Eosinophilia, Increased circulating IgG4 level, Abdominal pain, Retroperitoneal fibrosis, Lymphad...	ORPHA:449395
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Retrognathia, Duodena...	OMIM:619227
Immunodeficiency 33	Delayed eruption of teeth, Increased circulating IgA level, Conical tooth, Decreased circulating ...	OMIM:300636
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Anal stenosis, Dysgammaglobulinemia, Micrognathia, Malar ...	OMIM:251260
Chromosome 13Q33-Q34 Deletion Syndrome	Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Micrognathia, Cleft l...	OMIM:619148
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Aplastic anemia, Selective tooth agenesis, Abnormal dental enamel morp...	ORPHA:2909
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Nausea and vomiting, Macrocytic anemia, Decreased circulating cortisol level, ...	ORPHA:199299
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Thrombocytopeni...	OMIM:214500
Menke-Hennekam Syndrome 2	Thin upper lip vermilion, Duodenal ulcer, Micrognathia, Deep philtrum, Agenesis of permanent teet...	OMIM:618333
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Chronic diarrhea, Gingivitis, Rectal abscess, Periodontitis	OMIM:116920
Ppoma	Anorexia, Poor appetite, Lack of bowel sounds, Hepatomegaly, Intermittent jaundice, Episodic abdo...	ORPHA:97278
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Aplastic anemia, Abnormal dental enamel morphology, Abnormality of the...	ORPHA:221008
Immunodeficiency, Common Variable, 14	Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased...	OMIM:617765
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Weight loss	OMIM:191390
Rett Syndrome	Cachexia, Gastroesophageal reflux, Short stature	OMIM:312750
Blau Syndrome	Splenomegaly, Xerostomia, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morp...	ORPHA:90340
Mevalonic Aciduria	Normocytic hypoplastic anemia, Fluctuating hepatomegaly, Fluctuating splenomegaly, Thrombocytopen...	OMIM:610377
Caroli Syndrome	Liver abscess, Cholangitis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepatomegaly,...	ORPHA:480520
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Aplastic anemia, Abnormal dental enamel morphology, Abnormality of the...	ORPHA:221016
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Sotos Syndrome	Mandibular prognathia, High, narrow palate, Cryptorchidism, Narrow jaw, Narrow palate, Feeding di...	OMIM:117550
Angel-Shaped Phalango-Epiphyseal Dysplasia	Delayed eruption of teeth, Hypodontia	ORPHA:63442
Microform Holoprosencephaly	Tented upper lip vermilion, Cleft palate, Orofacial cleft, Short philtrum, Solitary median maxill...	ORPHA:280200
Sulfite Oxidase Deficiency, Isolated	Delayed eruption of teeth, Episodic vomiting	OMIM:272300
Cleidocranial Dysplasia	Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M...	ORPHA:1452
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Microcytic anemia, Micrognathia, Thrombocytopenia, Splenomegaly, Supernumerary toot...	OMIM:619525
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Leukopenia, Hemophagocytosis, Thro...	OMIM:267700
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Gastrointestinal dysmotility, Wide mouth, Duodenal atresia	OMIM:617798
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu...	ORPHA:3260
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia, Dysphagia	OMIM:614381
Zollinger-Ellison Syndrome	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ...	ORPHA:913
Anti-Glomerular Basement Membrane Disease	Anemia, Persistence of primary teeth	ORPHA:375
Acute Myelomonocytic Leukemia	Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia	ORPHA:517
Esophageal Atresia	Barrett esophagus, Intestinal malrotation, Feeding difficulties in infancy, Cleft lip, Gastrointe...	ORPHA:1199
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Micrognathia, Persistence of primary teeth, Abnormality of the dentit...	ORPHA:2785
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Splenomegaly, Diarrhea, Thick lower lip vermilion, Wide mouth, Macroglossia, Thick ...	OMIM:252940
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Hydrocele testis, Protein-losing enteropathy, Feeding difficulties	OMIM:618154
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Duodenal stenosis, Micrognathia	ORPHA:2547
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Severe failure to thrive, Intrauterine growth retardation, Short stature, Cachexia	ORPHA:371364
Brunner Syndrome	Diarrhea	OMIM:300615
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Hepatic fibrosis, Microretrognathia, Hamartoma of tongue, Cleft up...	OMIM:311200
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Micrognathia, Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hem...	OMIM:618183
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Thrombocytopenia, Reticulocytopenia, Gingival overgrowth, Leukopenia, ...	ORPHA:508542
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Short stature, Abnormal large intestine morphology, Cachexia, Narrow palate...	ORPHA:109
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Cryptorchidism, Supernumerary too...	OMIM:268400
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa...	ORPHA:100085
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus...	ORPHA:90291
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Carious teeth, Esophageal stricture, Hepatic fibrosis, Bone marrow...	OMIM:224230
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Protruding tongue, Persistence of primary teeth, Cryptorchidi...	OMIM:610253
Satoyoshi Syndrome	Diarrhea, Malabsorption	OMIM:600705
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Atrophic gastritis, He...	OMIM:615846
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Conical tooth, Splenomegaly, Chronic diarrhea, Aplasia of the sweat glands, Hypodon...	OMIM:612132
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Protein...	ORPHA:2929
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cleft upper lip, High, narrow ...	OMIM:122470
Porphyria, Acute Intermittent	Abdominal pain, Diarrhea, Paralytic ileus, Vomiting, Constipation, Hepatocellular carcinoma, Nausea	OMIM:176000
Sandhoff Disease, Juvenile Form	Diarrhea, Constipation, Dysphagia	ORPHA:309162
Coffin-Lowry Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t...	ORPHA:192
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Thin lower lip vermilion, Diarrhea, Abnormal T cell subset distribution, Decreased circulating an...	ORPHA:221139
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Nijmegen Breakage Syndrome	Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Short stature, Cachexia, Thrombocyt...	ORPHA:647
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Short stature, Cachexia	ORPHA:1933
Microsporidiosis	Cholangitis, Cachexia, Abnormality of the spleen, Abnormality of the parathyroid gland, Lymphaden...	ORPHA:2552
Trichorhinophalangeal Syndrome Type 1	Abnormality of the dentition, Micrognathia, Supernumerary tooth, High palate, Long philtrum, Long...	ORPHA:77258
Distal Deletion 12Q	Median cleft lip, Unilateral cryptorchidism, Micrognathia, High, narrow palate, Supernumerary too...	ORPHA:96149
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
H Syndrome	Hypertriglyceridemia, Cleft upper lip, Microcytic anemia, Malabsorption, Gingival overgrowth, Hep...	ORPHA:168569
19Q13.11 Microdeletion Syndrome	Cachexia, Supernumerary nipple, Cryptorchidism, Growth delay, Intrauterine growth retardation, Fa...	ORPHA:217346
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,...	OMIM:252100
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Diarrhea	OMIM:252920
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Acute hepatic failure, Pancytopenia, Cholangitis, Portal hypertension, Hypersplenism, Hepatitis, ...	ORPHA:228426
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Hutchinson-Gilford Progeria Syndrome	Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,...	ORPHA:740
Immunodeficiency 46	Intermittent thrombocytopenia, Chronic diarrhea, Decreased circulating antibody level, Neutropeni...	OMIM:616740
Laron Syndrome	Delayed eruption of teeth, Micrognathia, Tooth agenesis, Microdontia, Hypercholesterolemia	ORPHA:633
Tuberculosis	Weight loss	ORPHA:3389
Oculodentodigital Dysplasia	Mandibular prognathia, Median cleft lip, Abnormal dental enamel morphology, Premature loss of pri...	ORPHA:2710
Achalasia-Microcephaly Syndrome	Mandibular prognathia, Achalasia, Micrognathia	ORPHA:929
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Intractable diarrhea, Enam...	OMIM:226730
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Esophageal atresia, ...	ORPHA:87
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Gastroesophageal reflux, An...	ORPHA:261652
Orofaciodigital Syndrome Iii	Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula	OMIM:258850
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Kilquist Syndrome	Mandibular prognathia, Intestinal malrotation, Midgut malrotation, Xerostomia, Hypoplasia of teet...	OMIM:619080
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Cog8-Cdg	Failure to thrive, Protein-losing enteropathy	ORPHA:95428
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence...	ORPHA:364577
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Micrognathia, Cleft palate, Acute lymphoblastic leukemia, Colon cancer, Sto...	ORPHA:1052
Mucopolysaccharidosis, Type Iiia	Splenomegaly, Hepatomegaly, Diarrhea	OMIM:252900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Hypertriglyceridemia, Micrognathia, Splenomegaly, Polycystic ovaries, Advanced erup...	ORPHA:280365
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Micrognathia, Rectal fistula, Rectal atresia, Biliary atre...	OMIM:115470
Amelo-Onycho-Hypohidrotic Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent...	ORPHA:1028
Mucopolysaccharidosis, Type Vi	Delayed eruption of teeth, Hepatomegaly, Carious teeth, Splenomegaly, Macroglossia, Chronic const...	OMIM:253200
Frank-Ter Haar Syndrome	Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Wide mouth, Short philtrum...	ORPHA:137834
Moyamoya Disease 6 With Or Without Achalasia	Achalasia, Thrombocytopenia, Dysphagia	OMIM:615750
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Feed...	ORPHA:512
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Cleft lip, Cryptorchidism, Furrowed tongue, Feeding difficulties, High palate, Broa...	OMIM:616975
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Delayed eruption of teeth, Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Gingival overgrowt...	OMIM:301072
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R...	OMIM:614493
Plague	Chapped lip, Hepatomegaly, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Lymphadenitis, Di...	ORPHA:707
Tetrasomy 18P	Abnormality of neuronal migration, Thin vermilion border, Narrow mouth, Achalasia, Long philtrum	ORPHA:3307
X-Linked Hypohidrotic Ectodermal Dysplasia	Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Microdontia,...	ORPHA:181
Congenital Sucrase-Isomaltase Deficiency	Abdominal distention, Abdominal colic, Vomiting, Diarrhea	ORPHA:35122
Focal Dermal Hypoplasia	Acute hepatic failure, Abnormal dental morphology, Abnormal dental enamel morphology, Abnormality...	ORPHA:2092
Hypocomplementemic Urticarial Vasculitis	Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Lymphadenopathy	ORPHA:36412
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Zollinger-El...	ORPHA:652
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Abdominal pain, Diarrhea, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Oculodentodigital Dysplasia	Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft palate, Taurodontia, High palate,...	OMIM:164200
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome	Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia, Hepatic failure	ORPHA:3196
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Hepatomegaly, Gastritis, Mediastinal lymphadenopat...	ORPHA:809
Complement Component 4B Deficiency	Chronic diarrhea, Chronic active hepatitis, Recurrent sinusitis	OMIM:614379
Duodenal Atresia	Duodenal atresia	OMIM:223400
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula...	OMIM:243700
Cerebrooculofacioskeletal Syndrome 1	Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion border, Lo...	OMIM:214150
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating...	OMIM:618213
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Microretrognathia, Hypertriglyceridemia, Microvesicular hepatic s...	OMIM:619418
Intellectual Developmental Disorder, Autosomal Dominant 54	Dental crowding, Delayed eruption of primary teeth, Poor appetite, Gastrointestinal dysmotility, ...	OMIM:617799
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Cryptorchidism, Abnormality of dental eruption, Wide mouth, Ev...	ORPHA:96092
Oxoglutaric Aciduria	Abnormal salivary gland morphology	ORPHA:31
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Delayed eruption of teeth, Hypodontia	ORPHA:1816
Congenital-Onset Steinert Myotonic Dystrophy	Tented upper lip vermilion, Abdominal pain, Encopresis, Diarrhea, Gastroesophageal reflux, Consti...	ORPHA:589821
Diarrhea 6	Chronic diarrhea, Crohn's disease, Abdominal pain	OMIM:614616
Mednik Syndrome	Intrahepatic cholestasis, Abnormal intestine morphology	ORPHA:171851
Plasminogen Deficiency, Type I	Periodontitis, Gingival overgrowth, Gingivitis, Duodenal ulcer	OMIM:217090
Three M Syndrome 2	Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru...	OMIM:612921
Trisomy 18	Short stature, Cachexia, Cryptorchidism, Esophageal atresia, Narrow palate, Cleft palate, Growth ...	ORPHA:3380
Beta-Thalassemia Intermedia	Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia...	ORPHA:231222
X-Linked Intellectual Disability, Cabezas Type	Short stature, Cachexia, Obesity, High palate, Decreased testicular size	ORPHA:85293
Flynn-Aird Syndrome	Cachexia	ORPHA:2047
Trichorhinophalangeal Syndrome, Type I	Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Carious teeth, Deep philtrum, ...	OMIM:190350
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Chronic diarrhea, Cholestasis, D...	OMIM:300972
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Brain abscess, Acute colitis, Nausea, Abdominal pain, Intestinal perforation, L...	ORPHA:544482
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Thyroid C cell hyperplasia, Abdominal distention, Cervical lymphadenopathy...	ORPHA:653
Houge-Janssens Syndrome 1	Pyloric stenosis, Open mouth, Chronic diarrhea	OMIM:616355
Chops Syndrome	Gastroparesis, Splenomegaly, High, narrow palate, Cryptorchidism, Downturned corners of mouth, Ga...	OMIM:616368
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Mandibular prognathia, Advanced eruption of teeth, High palate	OMIM:262190
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati...	OMIM:200990
Immunodeficiency 56	Cholangitis, Chronic hepatitis due to cryptosporidium infection, Chronic diarrhea, Panhypogammagl...	OMIM:615207
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Codas Syndrome	Delayed eruption of teeth, Extrahepatic biliary duct atresia, Abnormal dental morphology, Abnorma...	ORPHA:1458
Sandhoff Disease	Hepatomegaly, Chronic diarrhea, Episodic abdominal pain, Hepatosplenomegaly, Macroglossia	OMIM:268800
Pediatric-Onset Graves Disease	Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Neutropenia in presence of a...	ORPHA:525731
Middle Ear Neuroendocrine Tumor	Chronic diarrhea, Chronic noninfectious lymphadenopathy	ORPHA:100084
Fusariosis	Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr...	ORPHA:228119
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia	ORPHA:3145
Idiopathic Bronchiectasis	Cachexia	ORPHA:60033
Short Stature, Dauber-Argente Type	Delayed eruption of teeth	OMIM:619489
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of teeth, Wide mo...	ORPHA:50814
Wilson Disease	Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increased body weight, Weight ...	ORPHA:905
Pulmonary Non-Tuberculous Mycobacterial Infection	Diarrhea, Lymphadenopathy	ORPHA:411703
Vipoma	Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Hepatomegaly, ...	ORPHA:97282
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Mosaic Variegated Aneuploidy Syndrome 2	Narrow mouth, Duodenal atresia, Decreased response to growth hormone stimulation test, Micrognathia	OMIM:614114
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta	ORPHA:71267
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Cleft lip, Abnormal mesentery morphology, Malrotatio...	ORPHA:2953
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia	ORPHA:293173
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Carious teeth, Cryptorchidism, Cleft palate,...	OMIM:607812
Adenocarcinoma Of The Anal Canal	Anal stenosis, Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Lymphadenopathy, Neopl...	ORPHA:424016
Infantile Krabbe Disease	Failure to thrive, Gastroesophageal reflux, Cachexia	ORPHA:206436
Tarp Syndrome	Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alveolar ridge...	ORPHA:2886
Cockayne Syndrome Type 2	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Feeding difficulties in i...	ORPHA:90322
Pelizaeus-Merzbacher Disease	Short stature, Failure to thrive in infancy, Cachexia	ORPHA:702
Juvenile Amyotrophic Lateral Sclerosis	Cachexia, Dysphagia	ORPHA:300605
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta	OMIM:615905
Serkal Syndrome	Malrotation of small bowel, Orofacial cleft	ORPHA:139466
Pachyonychia Congenita	Natal tooth, Angular cheilitis, Feeding difficulties, Advanced eruption of teeth, Oral leukoplakia	ORPHA:2309
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Hematemesis, Thro...	ORPHA:906
Osteopathia Striata With Cranial Sclerosis	Natal tooth, Anal stenosis, Paranasal sinus hypoplasia, Dental crowding, Intestinal malrotation, ...	OMIM:300373
Deeah Syndrome	Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio...	OMIM:619004
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, Thick vermilion...	OMIM:615866
Tricho-Retino-Dento-Digital Syndrome	Oligodontia, Supernumerary tooth, Abnormality of the dentition	ORPHA:1264
Kawasaki Disease	Nausea and vomiting, Abdominal pain, Cervical lymphadenopathy, Leukocytosis, Jaundice, Hepatitis,...	ORPHA:2331
Smith-Lemli-Opitz Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Aganglionic megacolon, Micrognathi...	ORPHA:818
Crimean-Congo Hemorrhagic Fever	Anorexia, Leukopenia, Increased circulating IgG level, Cholecystitis, Hepatomegaly, Neutrophilia,...	ORPHA:99827
Craniometadiaphyseal Dysplasia	Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig...	OMIM:269300
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Intestinal malrotation, Abdominal distention, Secretory diarrhea, Cleft palate, Rectovaginal fist...	OMIM:270420
Hereditary Angioedema Type 1	Tongue edema, Intestinal edema, Abdominal pain, Abnormal soft palate morphology, Diarrhea, Vomiti...	ORPHA:100050
Lynch Syndrome	Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan...	ORPHA:144
W Syndrome	Broad uvula, Submucous cleft hard palate, Agenesis of maxillary central incisor, Upper lip pit	ORPHA:2804
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth	OMIM:619356
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L...	OMIM:242840
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Abnormality of the dentition, High, narrow palate, Supernumerary tooth...	ORPHA:2108
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Intestinal perforation, Peritonitis, Weight loss...	ORPHA:679
Thiamine-Responsive Megaloblastic Anemia Syndrome	Anorexia, Diarrhea, Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Scedosporiosis	Sinusitis, Abnormal jejunum morphology	ORPHA:449280
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi...	ORPHA:36426
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hepatomegaly, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary tooth, Aplas...	OMIM:617088
Microphthalmia, Syndromic 9	Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Relapsing Fever	Neutrophilia, Abdominal pain, Leukocytosis, Jaundice, Diarrhea, Anemia, Leukopenia, Vomiting, Thr...	ORPHA:91547
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Cachexia, Weight loss	ORPHA:1979
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Diarrhea, Vomiting, Pancreatitis, Abdominal pain	OMIM:620137
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology, Conical tooth, Hypop...	OMIM:305100
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Diarrhea, Thick lower lip vermil...	OMIM:162300
Mgat2-Cdg	Impaired lymphocyte transformation with phytohemagglutinin, Dental crowding, Gastroparesis, Feedi...	ORPHA:79329
Trichorhinophalangeal Syndrome Type 2	Thin upper lip vermilion, Abnormality of the dentition, Supernumerary tooth, Deep philtrum, Aplas...	ORPHA:502
Acrofacial Dysostosis, Weyers Type	Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m...	ORPHA:952
Irida Syndrome	Intrahepatic cholestasis, Abnormal intestine morphology	ORPHA:209981
Rat-Bite Fever	Lymphadenitis, Diarrhea, Anemia, Vomiting, Pancreatitis, Parotitis	ORPHA:31205
Congenital Myopathy 20	Chronic diarrhea, High palate, Micrognathia	OMIM:620310
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Pituitary adenoma,...	ORPHA:99818
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Abdominal pain, Diarrhea, Functional abnormality of the gastrointestina...	ORPHA:357001
Icf Syndrome	Anemia, Lymphopenia, Abnormality of neutrophils, Decreased circulating antibody level	ORPHA:2268
Fgfr2-Related Bent Bone Dysplasia	Natal tooth, Extramedullary hematopoiesis, Micrognathia, Gingival overgrowth, Hepatosplenomegaly	ORPHA:313855
Pycnodysostosis	Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna...	OMIM:265800
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Chime Syndrome	Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Acut...	ORPHA:3474
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia	OMIM:613382
Familial Multiple Lipomatosis	Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Functional intestinal ...	ORPHA:199276
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p...	ORPHA:760
Thymic Carcinoma	Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss	ORPHA:99868
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Iron deficiency anemia, Gastric ulcer, Esophageal ulceration, Impaired platelet a...	OMIM:618372
Andersen Cardiodysrhythmic Periodic Paralysis	Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the...	OMIM:170390
Fraser Syndrome 1	Abnormal small intestine morphology, Dental crowding, Abnormal cortical gyration, Cleft upper lip...	OMIM:219000
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Open bite, Abnormality of the ...	ORPHA:1507
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism	OMIM:612463
Oculopharyngodistal Myopathy	Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ...	ORPHA:98897
Multiple Endocrine Neoplasia, Type I	Peptic ulcer, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, D...	OMIM:131100
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Hepatomegaly, Neutrophilia, Severe periodontitis, Microcytic anemia, Protr...	ORPHA:99843
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Cachexia	ORPHA:2774
Acrodermatitis Enteropathica	Anorexia, Malabsorption, Poor appetite, Chronic diarrhea, Cheilitis, Abnormality of the tongue, F...	ORPHA:37
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	T lymphocytopenia, Abnormal B cell morphology, Aplasia of the thymus	OMIM:618223
Citrullinemia Type Ii	Hepatomegaly, Hypertriglyceridemia, Diarrhea, Hyperlipidemia, Hepatic fibrosis, Vomiting, Hepatoc...	ORPHA:247585
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microretrognathia, Periventricular heterotopia, Pachygyria, Cryptorchidism, Simplified gyral patt...	ORPHA:468631
Naegeli-Franceschetti-Jadassohn Syndrome	Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Supernumerary tooth, Yel...	ORPHA:69087
Drug Reaction With Eosinophilia And Systemic Symptoms	Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Micrognathia, Abnormality of the dentition, Carious teeth, Ena...	ORPHA:2363
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum...	OMIM:127550
Tarp Syndrome	Meckel diverticulum, Micrognathia, Cleft palate, Glossoptosis, High palate, Hepatic failure, Neon...	OMIM:311900
Hyaline Fibromatosis Syndrome	Gingival fibromatosis, Diarrhea, Gingival overgrowth	OMIM:228600
Addison Disease	Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Hypoparathyroidism,...	ORPHA:85138
Lassa Fever	Nausea and vomiting, Abdominal pain, Jaundice, Diarrhea, Increased circulating IgM level, Dysphagia	ORPHA:99824
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Classic Galactosemia	Hepatomegaly, Abnormal erythrocyte enzyme level, Cryptorchidism, Jaundice, Diarrhea, Feeding diff...	ORPHA:79239
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Micrognathia, High, narrow palate, Submucous cleft hard palate, Cleft ...	ORPHA:2780
Trichorhinophalangeal Syndrome, Type Iii	Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Smooth philtrum	OMIM:190351
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Esophageal diverticulum, Clef...	OMIM:617925
Nance-Horan Syndrome	Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition	ORPHA:627
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Shor...	OMIM:613673
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Malabsorption, ...	ORPHA:440437
Scleromyxedema	Abnormality of the gastrointestinal tract, Hypoperistalsis, Narrow mouth, Paraproteinemia, Gastro...	ORPHA:167635
Nance-Horan Syndrome	Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor	OMIM:302350
Ankyloglossia With Or Without Tooth Anomalies	Supernumerary tooth, Ankyloglossia	OMIM:106280
Liver Disease, Severe Congenital	Chronic gastritis, Micrognathia, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Lym...	OMIM:619991
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth ho...	OMIM:604292
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Sinusitis, Abdominal pain, Peritonitis, Diarrhe...	ORPHA:727
Glycogen Storage Disease Ixc	Hepatomegaly, Postnatal growth retardation, Splenomegaly, Growth delay, Bile duct proliferation, ...	OMIM:613027
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop...	OMIM:612541
Multiple Pterygium-Malignant Hyperthermia Syndrome	Exaggerated cupid's bow, Narrow mouth, Cryptorchidism, Abnormal mandible morphology, Cleft palate...	ORPHA:2215
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Thyr...	OMIM:620186
Multiple Myeloma	Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa...	ORPHA:29073
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Gastrointestinal hemorrhage, Hepatomegaly, Hypertriglyceridemia, Poor appetite, Jaundice, Diarrhe...	ORPHA:247598
Genitopatellar Syndrome	Delayed eruption of teeth, Micrognathia, Cryptorchidism, Feeding difficulties, Gastroesophageal r...	ORPHA:85201
Hallermann-Streiff Syndrome	Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, Cr...	OMIM:234100
Developmental And Epileptic Encephalopathy 41	Delayed eruption of teeth, Feeding difficulties	OMIM:617105
Fused Mandibular Incisors	Advanced eruption of teeth, Abnormality of the dentition	ORPHA:2287
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri...	OMIM:277320
Marburg Hemorrhagic Fever	Abnormality of the gastrointestinal tract, Reticulocytosis, Anorexia, Nausea, Abdominal pain, Orc...	ORPHA:99826
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo...	ORPHA:1018
Feingold Syndrome Type 1	Jejunal atresia, Micrognathia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duoden...	ORPHA:391641
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Thrombocytopenia, Lymphopenia, Portal hypertension	OMIM:620365
Inflammatory Pseudotumor Of The Liver	Abnormal liver sonography, Biliary tract abnormality, Weight loss, Neoplasm of the liver, Cirrhosis	ORPHA:90003
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Abnormality of the dentit...	ORPHA:90321
Char Syndrome	Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Thick vermilion borde...	ORPHA:46627
Polycythemia Vera	Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomeg...	ORPHA:729
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Gastroesophageal reflu...	OMIM:301043
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis, Bloody diarrhea, Feeding difficulties	OMIM:615119
Craniosynostosis 2	Supernumerary tooth, Cleft soft palate	OMIM:604757
Holoprosencephaly 9	Abnormal cortical gyration, Hypoplasia of the premaxilla, Decreased response to growth hormone st...	OMIM:610829
Cleft Palate, Deafness, And Oligodontia	No permanent dentition, Oligodontia of primary teeth, Cleft soft palate	OMIM:216300
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Andersen-Tawil Syndrome	Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ...	ORPHA:37553
Hall-Riggs Syndrome	Delayed eruption of teeth, Nausea and vomiting, Abnormal dental enamel morphology, Downturned cor...	ORPHA:2107
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Pituitary corticotropic cell adenoma, Zollinger-Ellison syndrome, Pituitary ...	ORPHA:276152
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vomiting, Intrahepatic bile duct dil...	OMIM:301068
Trichothiodystrophy 1, Photosensitive	Decreased circulating IgG level, Intestinal obstruction, Malabsorption, Chronic diarrhea, Triangu...	OMIM:601675
Immunodeficiency 22	Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion...	OMIM:615758
Hyperprolinemia Type 2	Abdominal pain, Diarrhea, Feeding difficulties, Dysphagia	ORPHA:79101
Beare-Stevenson Cutis Gyrata Syndrome	Natal tooth, Feeding difficulties in infancy, Gingival overgrowth, Narrow palate, Anteriorly plac...	OMIM:123790
Odontochondrodysplasia	Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta	ORPHA:166272
Chronic Myeloid Leukemia	Poor appetite, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative di...	ORPHA:521
Mucopolysaccharidosis Type 3	Hepatomegaly, Craniofacial hyperostosis, Adenoiditis, Abnormality of the dentition, Splenomegaly,...	ORPHA:581
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Hamartoma of tongue, Cleft lip, Cryptorchidism, Hypoplastic facia...	OMIM:616300
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Autoimmune thrombocytopenia, Abnormal erythrocyte morphology, Diarrh...	ORPHA:324636
Dracunculiasis	Nausea and vomiting, Recurrent cutaneous abscess formation, Diarrhea	ORPHA:231
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Pituitary null cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Hurler Syndrome	Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Chronic diarrhea, Feeding difficulties, M...	ORPHA:93473
Tremor-Nystagmus-Duodenal Ulcer Syndrome	Duodenal ulcer	ORPHA:3350
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Recon Progeroid Syndrome	Prominence of the premaxilla, Dental crowding, Thrombocytopenia, Anemia, Thin vermilion border, D...	OMIM:620370
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Hepatomegaly, Poor appetite, Reye syndrome-like episodes, Diarrhea, Feeding difficulties, Vomitin...	ORPHA:927
Duodenal Ulcer Due To Antral G-Cell Hyperfunction	Duodenal ulcer	OMIM:126840
Pancreatoblastoma	Jaundice, Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Intestinal perforation, Hematemesis, Bloody diarrhea, Hematochezia, ...	ORPHA:464321
Lujo Hemorrhagic Fever	Leukocytosis, Fulminant hepatitis, Odynophagia, Diarrhea, Leukopenia, Vomiting, Abdominal cramps,...	ORPHA:319213
Acrocraniofacial Dysostosis	Advanced eruption of teeth, Short philtrum, Cleft palate, Micrognathia	ORPHA:949
Steatocystoma Multiplex With Natal Teeth	Natal tooth	OMIM:184510
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Diarrhea, Nausea, Poor appetite, Dysphagia	ORPHA:352447
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Thick vermilion border, Dental malocclusion	OMIM:601957
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Lymphopenia, Neutropenia	OMIM:614868
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Feeding difficulties in infancy, Diarrhea, Lipid accumulation in hepatocytes, Hepat...	OMIM:608836
Camurati-Engelmann Disease	Delayed eruption of teeth, Hepatomegaly, Anorexia, Carious teeth, Splenomegaly, Feeding difficult...	ORPHA:1328
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Lymphopenia	ORPHA:391307
Apert Syndrome	Mandibular prognathia, Delayed eruption of teeth, Esophageal atresia, Pyloric stenosis, Cryptorch...	OMIM:101200
Darier-White Disease	Enlargement of parotid gland	OMIM:124200
Lysinuric Protein Intolerance	Hepatomegaly, Nausea, Protein avoidance, Splenomegaly, Diarrhea, Malnutrition, Anemia, Leukopenia...	OMIM:222700
Igg4-Related Aortitis	Intestinal obstruction, Hypereosinophilia, Weight loss	ORPHA:449400
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Wide mouth, Hypoplasia of the phar...	OMIM:154500
Immunodeficiency 58	Recurrent cutaneous abscess formation, Helicobacter pylori infection, Chronic diarrhea, Decreased...	OMIM:618131
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Natal tooth, Dental crowding, Intestinal malrotation, Carious teeth, Cryptorchidism, Supernumerar...	ORPHA:353281
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Dysphagia, Pancreatitis...	ORPHA:449427
Tremor, Nystagmus, And Duodenal Ulcer	Duodenal ulcer	OMIM:190310
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Natal tooth, Hypoplastic sweat glands, Short philtrum, Cleft palate	OMIM:617337
Immunoglobulin Kappa Light Chain Deficiency	Diarrhea, Chronic diarrhea, Abnormal immunoglobulin level	OMIM:614102
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Dental maloc...	OMIM:257850
Galactosemia I	Hemolytic anemia, Hepatomegaly, Diarrhea, Vomiting, Decreased liver function, Cirrhosis	OMIM:230400
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit...	ORPHA:100086
Bone Dysplasia, Lethal Holmgren Type	Nausea and vomiting, Hepatomegaly, Diarrhea, Anemia	ORPHA:1842
Idiopathic Chronic Eosinophilic Pneumonia	Abnormality of the gastrointestinal tract, Leukocytosis, Hypereosinophilia, Weight loss	ORPHA:2902
Necrotizing Enterocolitis	Abdominal distention, Leukocytosis, Peritonitis, Diarrhea, Bloody diarrhea, Vomiting, Neutropenia...	ORPHA:391673
Granulomatous Disease, Chronic, Autosomal Recessive, 3	Abdominal pain, Diarrhea, Colitis, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent ...	OMIM:613960
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotation, Hypoperis...	ORPHA:2241
Kabuki Syndrome 2	Natal tooth, Micrognathia, Feeding difficulties in infancy, Lower lip pit, Dental malocclusion, C...	OMIM:300867
Diarrhea 13	Hepatic steatosis, Secretory diarrhea, Vomiting	OMIM:620357
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, M...	OMIM:618278
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi...	ORPHA:79276
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Taurodontia, Abnormal dental enamel morphology, Abnormality of the dentition	ORPHA:3220
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa...	OMIM:300990
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Poor appetite, Anorexia, Elev...	ORPHA:97287
Transcobalamin Ii Deficiency	Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Diarrhea, Reticulocytopenia,...	OMIM:275350
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Achalasia, Decreased response to growth hormone stimulation test, Narrow mouth	ORPHA:436174
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Micrognathia, Pancreatic cysts, Leukocytosis, Cleft palate, Hepatosplenomegaly, Ane...	OMIM:274000
Huntington Disease-Like 2	Weight loss	ORPHA:98934
Immunodeficiency 77	Recurrent tonsillitis, Gastroparesis, Cutaneous abscess	OMIM:619223
Biotinidase Deficiency	Hepatomegaly, Feeding difficulties in infancy, Splenomegaly, Diarrhea, Vomiting	OMIM:253260
Takayasu Arteritis	Gastrointestinal infarctions, Anemia, Weight loss	ORPHA:3287
Anterior Cutaneous Nerve Entrapment Syndrome	Anorexia, Abdominal pain, Abdominal distention, Leukocytosis, Recurrent infection of the gastroin...	ORPHA:51890
Bloom Syndrome	Elevated hemoglobin A1c, Cryptorchidism, Agenesis of maxillary lateral incisor, Decreased circula...	OMIM:210900
Dysosteosclerosis	Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent...	OMIM:224300
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Weight loss, ...	ORPHA:97286
Chronic Beryllium Disease	Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss	ORPHA:133
Omphalocele Syndrome, Shprintzen-Goldberg Type	Thin upper lip vermilion, Feeding difficulties in infancy, Chronic diarrhea, Downturned corners o...	ORPHA:3164
Cleidocranial Dysplasia 1	Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup...	OMIM:119600
Codas Syndrome	Delayed eruption of teeth, Cryptorchidism, Gastroesophageal reflux, Rectovaginal fistula, Enamel ...	OMIM:600373
Cystic Echinococcosis	Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Abnormality of the testis size, Eosi...	ORPHA:400
Yao Syndrome	Diarrhea, Xerostomia, Oral ulcer, Abdominal pain	OMIM:617321
Spondyloenchondrodysplasia	Delayed eruption of teeth, Pancytopenia, Autoimmune hemolytic anemia, Decreased response to growt...	ORPHA:1855
Fryns-Smeets-Thiry Syndrome	Short stature, Cachexia	ORPHA:2058
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Adrenal hyperplasia, Neoplasm...	ORPHA:99889
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Supernumerary tooth, Thin vermilion border, Elliptocytosis, Thick vermilion border, Malar flattening	ORPHA:86818
Cerebellar-Facial-Dental Syndrome	Micrognathia, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Taurodontia, Long p...	ORPHA:444072
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis, Decreased circulating antibody level	OMIM:618042
Angioedema, Hereditary, 1	Diarrhea, Vomiting, Intestinal edema, Abdominal pain	OMIM:106100
Opitz Gbbb Syndrome	Natal tooth, Enlarged ovaries, Micrognathia, Feeding difficulties in infancy, Cleft lip, Cryptorc...	ORPHA:2745
Malonyl-Coa Decarboxylase Deficiency	Abdominal pain, Diarrhea, Chronic constipation, Constipation, Vomiting, Pachygyria	OMIM:248360
Incontinentia Pigmenti	Delayed eruption of teeth, Eosinophilia, Supernumerary nipple, Conical tooth, Leukocytosis, Oligo...	OMIM:308300
Diarrhea 4, Malabsorptive, Congenital	Diarrhea, Vomiting	OMIM:610370
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Cirrhosis, Hepa...	ORPHA:465508
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cleft soft palate, Decreased response to growth hormone stimulation test, Pyloric stenosis, Super...	ORPHA:268261
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Oligodon...	OMIM:615873
Brucellosis	Liver abscess, Anorexia, Leukopenia, Abnormality of the liver, Increased circulating IgG level, V...	ORPHA:1304
Raine Syndrome	Mandibular prognathia, Natal tooth, Micrognathia, Protruding tongue, Gingival overgrowth, Cleft p...	OMIM:259775
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Taurodontia, Dental malocclusion, Cryptorchidism	OMIM:616202
Combined Malonic And Methylmalonic Aciduria	Diarrhea, Vomiting	OMIM:614265
Iniencephaly	Orofacial cleft, Lissencephaly, Narrow mouth, Mandibular aplasia, Anal atresia, Duodenal atresia	ORPHA:63259
Cockayne Syndrome	Hepatomegaly, Severe short stature, Cachexia, Postnatal growth retardation, Cryptorchidism, Splen...	ORPHA:191
Schinzel-Giedion Syndrome	Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Micrognathia, Abnormality of the ...	ORPHA:798
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Subcutaneous Panniculitis-Like T-Cell Lymphoma	Weight loss, Hemophagocytosis, Hepatosplenomegaly	ORPHA:86884
Frontometaphyseal Dysplasia 1	Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal...	OMIM:305620
Primary Sclerosing Cholangitis	Abnormal eosinophil morphology, Hepatic fibrosis, Neoplasm of the gallbladder, Adenocarcinoma of ...	ORPHA:171
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Tooth abscess, Malabsorption	ORPHA:289176
Diets-Jongmans Syndrome	Thin upper lip vermilion, Feeding difficulties in infancy, Cryptorchidism, Wide mouth, Duodenal a...	OMIM:618846
Pallister-Hall Syndrome	Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Decreased response to grow...	OMIM:146510
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Periventricular heterotopia, C...	OMIM:615948
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Diarrhea, Constipation	OMIM:615548
Nodular Non-Suppurative Panniculitis	Splenomegaly, Hepatomegaly, Weight loss	ORPHA:33577
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth	ORPHA:2266
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Cachexia, Short hard palate, Short stature	ORPHA:1969
Barber-Say Syndrome	Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Micrognathia, Hypoplasia of the ...	OMIM:209885
Generalized Pseudohypoaldosteronism Type 1	Failure to thrive in infancy, Proportionate short stature, Recurrent tonsillitis, Weight loss, Ch...	ORPHA:171876
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Dental crowding, Micrognathia, Cryptorchidism, ...	OMIM:619005
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Inflammation of the large intestine, Anemia, Weight loss	ORPHA:324964
Myopathy, Myofibrillar, 1	Diarrhea, Constipation	OMIM:601419
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hepatomegaly, Premature loss of primary teeth, Splenomegaly, Lymphaden...	ORPHA:667
Psoriasis 14, Pustular	Neutrophilia, Cholangitis, Leukocytosis, Furrowed tongue, Geographic tongue	OMIM:614204
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Pulp calcification, Taurodontia, Enamel hypoplasia	OMIM:211900
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Micrognathia, Intrahepatic cholestasis, Pierre-Robin sequence, Chronic diarrhea, He...	OMIM:614921
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Cryptorchidism, Abnormality of neuronal migration, Feeding difficulties, Posterior pituitary hypo...	ORPHA:464311
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Microcytic anemia, Chronic diarrhea, Hepatic steatosis, Pancreatitis	OMIM:618805
Melas	Hypoparathyroidism, Intestinal pseudo-obstruction, Gastrointestinal dysmotility, Diarrhea, Recurr...	ORPHA:550
Odontochondrodysplasia 1	Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum	OMIM:184260
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l...	ORPHA:369950
Cd8 Deficiency, Familial	Absence of CD8-positive T cells	OMIM:608957
Wolf-Hirschhorn Syndrome	Accessory spleen, Cleft upper lip, Micrognathia, Cryptorchidism, Malrotation of small bowel, Bili...	OMIM:194190
Behçet Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Spleno...	ORPHA:117
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi...	OMIM:619503
Charge Syndrome	Hypoparathyroidism, Anal stenosis, Decreased response to growth hormone stimulation test, Microgn...	OMIM:214800
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Delayed eruption of teeth, Hepatomegaly, Cleft lip, Thick lower lip vermilion, Cleft palate, Acut...	OMIM:280000
Immunodeficiency 23	Hemolytic anemia, Eosinophilia, Abscess, Increased circulating IgE level, Increased circulating I...	OMIM:615816
Riddle Syndrome	Generalized lymphadenopathy, Abdominal pain, Diarrhea, Decreased circulating total IgM, Recurrent...	ORPHA:420741
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Feeding difficulties in infancy, High, narrow palate, Gastrointest...	ORPHA:352665
Aspartylglucosaminuria	Mandibular prognathia, Hepatomegaly, Abnormality of the dentition, Carious teeth, Splenomegaly, M...	ORPHA:93
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Widely spaced teeth, Hi...	ORPHA:79500
Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:1267
Hypoglossia-Hypodactyly Syndrome	Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Feeding difficulties in infancy,...	ORPHA:989
Trichothiodystrophy 2, Photosensitive	Agenesis of maxillary lateral incisor	OMIM:616390
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Carious teeth, Protuberant abdomen, Secondary hyperparathyroidism, Ena...	OMIM:277440
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased circulating IgG level, Hepatomegaly, Decreased proportion of CD8-positive T cells, Incr...	ORPHA:508533
Wild Type Attr Amyloidosis	Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Intermittent di...	ORPHA:330001
Intestinal Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Dysphagia	ORPHA:178481
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Microvesicular hepatic steatosis, Diarrhea, Vomiting, Decreased carnitine level in ...	OMIM:212140
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Open bite, Cryptorch...	ORPHA:950
Dystonia-Deafness Syndrome 1	Cleft upper lip, Cleft palate, Pseudobulbar paralysis, Dysphagia, Achalasia	OMIM:607371
Foodborne Botulism	Nausea and vomiting, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia	ORPHA:228371
Schwartz-Jampel Syndrome	Pursed lips, Micrognathia, Feeding difficulties in infancy, Trismus, Supernumerary tooth, Dental ...	ORPHA:800
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Sinusitis, Decreased response to growth hormone stimulation test, Enteroviral hepatitis, Diarrhea...	OMIM:307200
Avian Influenza	Abdominal pain, Diarrhea, Hepatitis, Leukopenia, Vomiting, Lymphopenia, Thrombocytopenia	ORPHA:454836
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal lymphocyte morphology, Decreased circulating antibody level, Severe B lymphocytopenia, A...	ORPHA:293978
Dyrk1A-Related Intellectual Disability Syndrome	Anterior pituitary hypoplasia, Pyloric stenosis, Cryptorchidism, Feeding difficulties, Gastroesop...	ORPHA:464306
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Supernumerary nipple, Pyloric stenosis, Submucous cleft hard palate, Ch...	ORPHA:457279
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Conical tooth...	ORPHA:1071
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Malabsorption, Intestinal perforation, Thrombocytopenia, Neutropenia...	ORPHA:537
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul...	OMIM:242900
Listeriosis	Brain abscess, Liver abscess, Abscess, Abdominal pain, Jaundice, Peritonitis, Abnormal cellular i...	ORPHA:533
Weismann-Netter Syndrome	Delayed eruption of permanent teeth	OMIM:112350
Obesity Due To Congenital Leptin Deficiency	Decreased proportion of CD4-positive helper T cells, Decreased T cell activation	ORPHA:66628
Pachyonychia Congenita 2	Oral leukoplakia, Natal tooth, Angular cheilitis	OMIM:167210
Gm1 Gangliosidosis	Short stature, Splenomegaly, Hepatosplenomegaly, Weight loss, Macroglossia, Gastroesophageal refl...	ORPHA:354
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Cryptor...	ORPHA:289
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Cleft palate, Feeding diff...	OMIM:600987
Chromosome 19P13.13 Deletion Syndrome	Abdominal pain, Diarrhea, Feeding difficulties, Constipation, Vomiting	OMIM:613638
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Lar...	ORPHA:220460
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Diarrhea, Feeding difficulties, Transient hyperlipidemia, Hepatic steatosis	OMIM:255120
Erythrokeratodermia Variabilis	Abnormal testis morphology, Short stature, Weight loss	ORPHA:317
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level	OMIM:617425
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Adnp Syndrome	Thin upper lip vermilion, Oral-pharyngeal dysphagia, Cryptorchidism, Thick lower lip vermilion, C...	ORPHA:404448
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, T lymphocytopenia, Hepatic steatosis, Microcytic anemia	ORPHA:2959
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Nasogastric tu...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Natal tooth, Dental crowding, Intestinal malrotation, Micrognathia, Carious teeth, Nasogastric tu...	ORPHA:353277
Maculopapular Cutaneous Mastocytosis	Diarrhea, Vomiting, Nausea, Abdominal pain	ORPHA:79457
Thymoma	Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Ulcerative colitis, Weig...	ORPHA:99867
Autosomal Dominant Robinow Syndrome	Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin...	ORPHA:3107
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Intestinal malrotation, Abnormal gastrointestinal tract morphology	ORPHA:2847
Mosaic Trisomy 16	Abnormality of the gastrointestinal tract, Nasogastric tube feeding in infancy, Wide mouth, Anter...	ORPHA:1708
Trisomy 8P	Cryptorchidism, Malrotation of small bowel, Cleft palate, Thin vermilion border, Constipation, Ap...	ORPHA:264450
Short Syndrome	Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Ovaria...	OMIM:269880
Singleton-Merten Syndrome 1	Thin upper lip vermilion, Hypoplasia of the maxilla, Carious teeth, Eruption failure, Short denta...	OMIM:182250
Systemic Capillary Leak Syndrome	Leukocytosis, Pancreatitis, Diarrhea, Abdominal pain	ORPHA:188
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Abnormality of the liver, Gastroesophageal reflux, Gastroparesis, Constipation	OMIM:610131
Insulin Autoimmune Syndrome	Weight loss	ORPHA:411593
Wiedemann-Rautenstrauch Syndrome	Delayed eruption of teeth, Natal tooth, Hypertriglyceridemia, Micrognathia, Cryptorchidism, Hypop...	OMIM:264090
Osteogenesis Imperfecta	Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Abnormal dental e...	ORPHA:666
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Hypoplasminogenemia	Duodenal ulcer, Gingival overgrowth, Gingivitis, Periodontitis, Abnormality of the ovary	ORPHA:722
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Feeding difficulties in infancy, Diarrhea, Hypogeusia, Gastroesophageal reflux, Constipation, Vom...	OMIM:223900
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Cryptorchidism, Thick lower lip vermilion, S...	ORPHA:1465
Developmental Malformations-Deafness-Dystonia Syndrome	Macroglossia, Achalasia, Orofacial cleft, Dysphagia	ORPHA:79107
Bacterial Toxic-Shock Syndrome	Sinusitis, Abscess, Nausea, Abdominal pain, Peritonitis, Diarrhea, Increased circulating myelocyt...	ORPHA:36234
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Agammaglobulinemia, Abnormality of the pancreas, Lymphopenia, Anemia	ORPHA:935
Xfe Progeroid Syndrome	Failure to thrive, Severe short stature, Cachexia	OMIM:610965
Familial Isolated Hypoparathyroidism	Delayed eruption of teeth, Hypoparathyroidism, Abnormal dental enamel morphology	ORPHA:2238
Ivic Syndrome	Intestinal malrotation, Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Anal atresia	OMIM:147750
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Pyloric stenosis, Cryp...	ORPHA:83617
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Dysphagia, Anemia	OMIM:616457
Erythermalgia, Primary	Diarrhea, Xerostomia, Constipation	OMIM:133020
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Erythematous oral mucosa, Chronic diarrhea, Furrowed tongue, Melena	OMIM:158310
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Abdominal pain, Splenomegaly, Jaundice, Leukocytosis, Splenic inf...	OMIM:603903
Chronic Hiccup	Weight loss	ORPHA:396
Farber Disease	Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Chronic diarrhea, Lymphadenopa...	ORPHA:333
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism, Protuberant abdomen	OMIM:264700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Abdominal pain, Splenomegaly, Leukocytosis, Jaundice, Poikilocytos...	OMIM:300908
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of	Enlargement of parotid gland	OMIM:600343
Rabson-Mendenhall Syndrome	Mandibular prognathia, Enlarged ovaries, Dental crowding, Abnormality of the dentition, Gingival ...	ORPHA:769
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Micrognathia	ORPHA:73272
Deafness-Vitiligo-Achalasia Syndrome	Achalasia	ORPHA:3239
Craniometaphyseal Dysplasia, Autosomal Recessive	Mandibular prognathia, Facial hyperostosis, Delayed eruption of permanent teeth, Broad alveolar r...	OMIM:218400
Achalasia-Microcephaly Syndrome	Achalasia	OMIM:200450
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Feeding difficulties in infancy, Deep philtrum, High palate, Open mout...	ORPHA:1675
Allergic Bronchopulmonary Aspergillosis	Abnormal eosinophil morphology, Weight loss	ORPHA:1164
Genitopatellar Syndrome	Delayed eruption of teeth, Anal stenosis, Micrognathia, Periventricular heterotopia, Cryptorchidi...	OMIM:606170
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Chronic diarrhea, Chronic decreased circulating IgG1, Wide mouth, Widely s...	OMIM:300953
Meier-Gorlin Syndrome 7	Anal stenosis, Cryptorchidism, Cleft palate, Duodenal stenosis, Anteriorly placed anus, High pala...	OMIM:617063
Brachydactyly, Type B1	Delayed eruption of permanent teeth	OMIM:113000
Incisors, Lower Central, Absence Of	Agenesis of mandibular central incisor	OMIM:147330
Cockayne Syndrome A	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega...	OMIM:216400
3-Hydroxy-3-Methylglutaric Aciduria	Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Leukocytosis, Jaundice, ...	ORPHA:20
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Abnormal erythrocyte morphology,...	ORPHA:288
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia	OMIM:129550
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Diarrhea, Feeding difficulties, Constipation, High palate, Narrow mouth...	OMIM:618050
Chilton-Okur-Chung Neurodevelopmental Syndrome	Mandibular prognathia, Thin upper lip vermilion, Anterior pituitary hypoplasia, Micrognathia, Cry...	OMIM:619841
Spondyloocular Syndrome	Unilateral cryptorchidism, Duodenal ulcer, Abnormality of the dentition	OMIM:605822
Polyarteritis Nodosa	Abnormality of the gastrointestinal tract, Weight loss	ORPHA:767
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Hiatus hernia, Cryptorchidis...	OMIM:601776
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Esophageal stenosis, Feeding difficulties, Downturned corners of mouth, Short philtrum, Dysphagia...	OMIM:615510
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Eosinophilia, Malabsorption, Weight loss, Gastroesophageal reflux, Dysphagia	ORPHA:183
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Microvesicular hepatic steatosis, ...	OMIM:256810
Incontinentia Pigmenti	Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Eosinop...	ORPHA:464
Alternating Hemiplegia Of Childhood	Abnormality of the gastrointestinal tract, Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dys...	ORPHA:2131
Coffin-Siris Syndrome 1	Delayed eruption of teeth, Thin upper lip vermilion, Duodenal ulcer, Intestinal malrotation, Coni...	OMIM:135900
Methanol Poisoning	Diarrhea, Vomiting, Hyperlipidemia, Abdominal pain	ORPHA:31825
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C...	OMIM:268305
Isaacs Syndrome	Weight loss	ORPHA:84142
Reni Syndrome	Lymphopenia	OMIM:617575
Chand Syndrome	Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla...	ORPHA:1401
Ivic Syndrome	Anal atresia, Leukocytosis, Rectovaginal fistula, Thrombocytopenia	ORPHA:2307
Pseudohypoparathyroidism, Type Ic	Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism	OMIM:612462
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Focal polymicrogyria, Cryptorch...	OMIM:612651
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Achalasia	ORPHA:2400
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Aganglionic megacolon, Micrognathia, Aplasia/Hypoplas...	ORPHA:84
Peritoneal Cystic Mesothelioma	Peritonitis, Weight loss	ORPHA:168816
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism	OMIM:103580
Gapo Syndrome	Mandibular prognathia, Delayed eruption of teeth, Micrognathia, Everted lower lip vermilion, Long...	ORPHA:2067
Zttk Syndrome	Absent gallbladder, Abnormality of the dentition, Hypoplasia of the maxilla, Feeding difficulties...	OMIM:617140
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Intestinal malrotation, Hypoperistalsis	OMIM:613834
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Micrognathia, Hydrocele testis, Long phil...	OMIM:145420
Beta-Ketothiolase Deficiency	Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Vomiting, Thrombocytosis	ORPHA:134
Seckel Syndrome	Intrauterine growth retardation, Short stature, Cachexia	ORPHA:808
Fabry Disease	Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Hyperlipidemia, Thick lower lip ver...	ORPHA:324
Attrv30M Amyloidosis	Diarrhea, Constipation	ORPHA:85447
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Persistence of primary teeth, Conical tooth, Dental malocclusion, Oligodontia, Microdontia, Malar...	OMIM:618727
Huntington Disease	Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia	ORPHA:399
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Hepatomegaly, Exaggerated median tongue furrow, Intestinal malrotation, Su...	OMIM:312870
Odontomicronychial Dysplasia	Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit...	ORPHA:1811
Stickler Syndrome	Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Open...	ORPHA:828
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
De Barsy Syndrome	Delayed eruption of teeth, Cryptorchidism, Narrow mouth, High palate, Small, conical teeth	ORPHA:2962
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Natal tooth, Oligodontia, Hypoplastic sweat glands, Hypodontia	OMIM:601345
3M Syndrome	Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p...	ORPHA:2616
Mucopolysaccharidosis Type 2, Severe Form	Abnormal dental morphology, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Gingival overgrowth...	ORPHA:217085
Spontaneous Periodic Hypothermia	Nausea and vomiting, Diarrhea	ORPHA:29822
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology	ORPHA:1782
Floating-Harbor Syndrome	Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Celiac disease, Cryptorch...	ORPHA:2044
Triple A Syndrome	Achalasia, Anterior hypopituitarism	ORPHA:869
Orofaciodigital Syndrome Type 14	Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Bilateral cryptorchidism, Perive...	ORPHA:434179
Robinow Syndrome, Autosomal Dominant 1	Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Mic...	OMIM:180700
Paroxysmal Nocturnal Hemoglobinuria 2	Hemolytic anemia, Diarrhea, Abdominal pain	OMIM:615399
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Micrognathia	OMIM:616901
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia	ORPHA:2484
Cockayne Syndrome B	Mandibular prognathia, Hepatomegaly, Delayed eruption of primary teeth, Carious teeth, Splenomega...	OMIM:133540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Abdominal distention, Hypoperistalsis	OMIM:619365
Hereditary Central Diabetes Insipidus	Growth delay, Weight loss	ORPHA:30925
Adiposis Dolorosa	Constipation, Xerostomia, Diarrhea	ORPHA:36397
8Q24.3 Microdeletion Syndrome	Microretrognathia, Thin upper lip vermilion, Gastrointestinal hemorrhage, Branchial cyst, Ectopic...	ORPHA:508488
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormal dental morphology, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Gingival overgrowth...	ORPHA:217093
Cornelia De Lange Syndrome	Delayed eruption of teeth, Intestinal malrotation, Micrognathia, Feeding difficulties in infancy,...	ORPHA:199
Solitary Fibrous Tumor	Abnormal peritoneum morphology, Neoplasm of the liver, Weight loss	ORPHA:2126
Peters-Plus Syndrome	Thin upper lip vermilion, Short lingual frenulum, Bilobate gallbladder, Bilateral cleft lip, Clef...	OMIM:261540
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Weig...	OMIM:619487
Polymyositis	Gastrointestinal hemorrhage, Hepatomegaly, Gastroesophageal reflux, Weight loss	ORPHA:732
Familial Thrombocytosis	Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis	ORPHA:71493
Alveolar Echinococcosis	Liver abscess, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, Eosinophilia, A...	ORPHA:284
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Leukocytosis, Downturned corners of mouth, Hypoplasia ...	OMIM:619321
Familial Adenomatous Polyposis 4	Ovarian cyst, Duodenal polyposis, Adenomatous colonic polyposis, Gastric adenocarcinoma	OMIM:617100
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Hepatomegaly, Diarrhea, Vomiting	OMIM:560000
Robinow Syndrome	Dental crowding, Persistence of primary teeth, Micrognathia, Cryptorchidism, Dental malocclusion,...	ORPHA:97360
Inhalational Botulism	Nausea and vomiting, Diarrhea, Xerostomia, Constipation	ORPHA:254504
Lethal Acantholytic Erosive Disorder	Natal tooth, Cleft palate	ORPHA:158687
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla...	OMIM:250250
Combined Malonic And Methylmalonic Acidemia	Intermittent diarrhea, Vomiting, Nasogastric tube feeding	ORPHA:289504
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Anorexia, Oral-pharyngeal dysphagia, Oral mucosal blisters, Intestinal perforation, Diarrhea, Abd...	ORPHA:95455
Ogden Syndrome	Micrognathia, Microvesicular hepatic steatosis, Deep philtrum, Iron deficiency anemia, Short phil...	OMIM:300855
Proximal Renal Tubular Acidosis	Diarrhea, Enamel hypomineralization, Vomiting, Malabsorption	ORPHA:47159
Yellow Fever	Acute pancreatitis, Neutrophilia, Abdominal pain, Hematemesis, Jaundice, Leukocytosis, Pancreatic...	ORPHA:99829
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Intestinal pseudo-obstruction, Gastroparesis	ORPHA:70595
Trichodermodysplasia-Dental Alterations Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Supernumerary tooth, Tooth agenesis, Adeno...	ORPHA:3353
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Short stature, Cachexia	ORPHA:220295
Fabry Disease	Abdominal pain, Diarrhea, Tenesmus, Vomiting, Nausea, Anemia	OMIM:301500
Glycogen Storage Disease Ia	Hepatomegaly, Hyperlipidemia, Xanthelasma, Protuberant abdomen, Hepatocellular carcinoma, Intermi...	OMIM:232200
Cerebrotendinous Xanthomatosis	Cholelithiasis, Pseudobulbar paralysis, Xanthelasma, Diarrhea	OMIM:213700
Robinow Syndrome, Autosomal Recessive 1	Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Cryptorchidi...	OMIM:268310
Inflammatory Skin And Bowel Disease, Neonatal, 2	Increased circulating IgE level, Secretory diarrhea, Vomiting	OMIM:616069
Primary Sjögren Syndrome	Normocytic anemia, Chronic active hepatitis, Biliary cirrhosis, Lymphadenopathy, Chronic hepatiti...	ORPHA:289390
Adult Intestinal Botulism	Diarrhea	ORPHA:178487
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of the parotid gland, Carious...	OMIM:149730
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Diarrhea, Schistocytosis, Hyperlipidemia, Microangiopathic hemolytic anemia, Thr...	OMIM:235400
Down Syndrome	Anal atresia, Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Myelopro...	OMIM:190685
Huntington Disease-Like 2	Weight loss	OMIM:606438
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Hepatomegaly, Diarrhea, Pancreatic islet-cell hyperplasia, Vomiting, Increased hepatic glycogen c...	ORPHA:263455
Chronic Graft Versus Host Disease	Pancytopenia, Anorexia, Abdominal pain, Esophageal stricture, Diarrhea, Xerostomia, Abnormal esop...	ORPHA:99921
Central Diabetes Insipidus	Nausea and vomiting, Diarrhea, Anorexia	ORPHA:178029
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Blomstrand Lethal Chondrodysplasia	Natal tooth, Protruding tongue, Micrognathia, Protuberant abdomen, Long philtrum, Malar flattening	ORPHA:50945
Ectodermal Dysplasia-Skin Fragility Syndrome	Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to...	ORPHA:158668
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Diarrhea, Hypochromic microcytic anemia, Vomiting, Thrombocytopenia	ORPHA:3240
Proximal Spinal Muscular Atrophy	Gastroparesis, Constipation, Gastroesophageal reflux, Tongue fasciculations, Dysphagia, Poor suck	ORPHA:70
Microphthalmia, Lenz Type	Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Cryptorchidi...	ORPHA:568
Alg12-Cdg	Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn...	ORPHA:79324
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism, Protuberant abdomen	ORPHA:289157
Intellectual Developmental Disorder, Autosomal Dominant 51	Unilateral cryptorchidism, Cryptorchidism, Chronic diarrhea, Feeding difficulties, Chronic consti...	OMIM:617788
Aromatic L-Amino Acid Decarboxylase Deficiency	Feeding difficulties in infancy, Constipation, Gastroesophageal reflux, Diarrhea	OMIM:608643
Holocarboxylase Synthetase Deficiency	Growth delay, Thrombocytopenia, Weight loss	ORPHA:79242
Giant Cell Arteritis	Mediastinal lymphadenopathy, Gastrointestinal infarctions, Glossitis, Weight loss	ORPHA:397
Eosinophilic Fasciitis	Abnormal eosinophil morphology, Eosinophilia, Weight loss	ORPHA:3165
Diamond-Blackfan Anemia 21	Micrognathia, Erythroid hypoplasia, Chronic diarrhea, Anemia, Narrow mouth, Thrombocytopenia	OMIM:620072
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Pyloric stenosis, Abdomin...	OMIM:235730
Isolated Succinate-Coq Reductase Deficiency	Intrauterine growth retardation, Severe short stature, Proportionate short stature, Weight loss	ORPHA:3208
Steinert Myotonic Dystrophy	Tented upper lip vermilion, Intestinal pseudo-obstruction, Hypercholesterolemia, Decreased respon...	ORPHA:273
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Dent...	OMIM:101800
Microphthalmia, Syndromic 2	Delayed eruption of teeth, Persistence of primary teeth, Cryptorchidism, Supernumerary tooth, Sub...	OMIM:300166
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Generalized Pustular Psoriasis	Leukocytosis, Lymphopenia	ORPHA:247353
Paroxysmal Cold Hemoglobinuria	Nausea and vomiting, Autoimmune hemolytic anemia, Diarrhea, Coombs-positive hemolytic anemia	ORPHA:90035
Mucopolysaccharidosis Type 2	Hepatomegaly, Splenomegaly, Chronic diarrhea, Temporomandibular joint ankylosis, Enlarged tonsils...	ORPHA:580
Chikungunya	Cervical lymphadenopathy, Diarrhea, Lymphadenopathy, Vomiting, Gingival bleeding	ORPHA:324625
Cole-Carpenter Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia	ORPHA:2050
Chst3-Related Skeletal Dysplasia	Delayed eruption of teeth, Long philtrum	ORPHA:263463
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Episodic vomiting, Vomiting, Diarrhea	OMIM:618321
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Cleft palate, Stillbirth, Toot...	OMIM:309350
Focal Dermal Hypoplasia	Delayed eruption of teeth, Intestinal malrotation, Supernumerary nipple, Cleft upper lip, Hiatus ...	OMIM:305600
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Acute hepatic failure, Increased circulating free fatty acid level, Feeding difficulties in infan...	ORPHA:71212
Classic Pantothenate Kinase-Associated Neurodegeneration	Weight loss, Dysphagia	ORPHA:216866
Reactive Arthritis	Inflammation of the large intestine, Recurrent aphthous stomatitis, Diarrhea, Abdominal pain	ORPHA:29207
Hemorrhagic Fever-Renal Syndrome	Abdominal pain, Hematemesis, Leukocytosis, Diarrhea, Melena, Anemia, Vomiting, Nausea, Thrombocyt...	ORPHA:340
Viss Syndrome	Chronic gastritis, Micrognathia, High, narrow palate, Increased circulating IgG level, High palat...	OMIM:619472
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Feeding difficulties in infancy, Diarrhea, Hyperaldosteronism, Vomiting	OMIM:264350
Juvenile Huntington Disease	Weight loss	ORPHA:248111
Leukocyte Adhesion Deficiency	Acute myeloid leukemia, Sinusitis, Severe periodontitis, Abnormality of the dentition, Perianal a...	ORPHA:2968
Methionine Malabsorption Syndrome	Diarrhea	OMIM:250900
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp...	OMIM:225500
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Chronic diarrhea, Feeding difficulties, Anemia, Dysphagia	OMIM:620358
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Chronic diarrhea, Colitis	OMIM:301220
Neuroblastoma, Susceptibility To, 1	Diarrhea, Anemia, Abdominal pain	OMIM:256700
Charge Syndrome	Delayed eruption of teeth, Cleft upper lip, Abnormal soft palate morphology, Feeding difficulties...	ORPHA:138
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Cachexia, Enlarged polycystic ovaries, Splenomegaly, Neo...	ORPHA:744
Japanese Encephalitis	Neutrophilia, Anorexia, Abdominal pain, Diarrhea, Increased circulating IgM level, Vomiting, Incr...	ORPHA:79139
Intellectual Disability-Alacrima-Achalasia Syndrome	Deep philtrum, Achalasia, Dysphagia	ORPHA:289483
Pseudohypoparathyroidism Type 1B	Delayed eruption of teeth, Abdominal symptom, Decreased response to growth hormone stimulation te...	ORPHA:94089
Cryptogenic Organizing Pneumonia	Leukocytosis, Neutrophilia, Weight loss	ORPHA:1302
Shprintzen Omphalocele Syndrome	Hypoplasia of the pharynx, Thin vermilion border, Anal atresia	OMIM:182210
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Weight loss, Neutropenia, Malabsorption	ORPHA:79430
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Peptic ulcer, Testicular neoplasm, Primary hyperparathyroidism, Abnorm...	ORPHA:143
Cowden Syndrome 1	Lymphopenia, Decreased circulating antibody level	OMIM:158350
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Congenital hypoparathyroidism, Calvarial osteosclero...	ORPHA:93325
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili...	OMIM:601812
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Orofacial cleft, ...	ORPHA:77301
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Mild postnatal growth retardation, Weight loss, Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup...	OMIM:614188
Ameloonychohypohidrotic Syndrome	Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis...	OMIM:104570
Aspartylglucosaminuria	Hepatomegaly, Diarrhea, Thick lower lip vermilion, Vacuolated lymphocytes, Hypoplastic frontal si...	OMIM:208400
Cholera	Achlorhydria, Abdominal pain, Diarrhea, Abdominal cramps, Vomiting	ORPHA:173
Oromandibular Dystonia	Weight loss, Dysphagia	ORPHA:93958
Barber-Say Syndrome	Delayed eruption of teeth, Wide mouth, Breast aplasia, Hypoplastic nipples	ORPHA:1231
Marfan Syndrome	High, narrow palate, Cachexia, Slender build, Cleft palate	ORPHA:558
Q Fever	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hepatitis, Hepatosplenomegaly, Lymphadenopathy, Wei...	ORPHA:781
Radiculoneuropathy, Fatal Neonatal	Chronic diarrhea	OMIM:266250
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Feeding difficulties in infancy, Cryptorchidism, Chronic diarrhea, Chronic constipation, Gastroes...	ORPHA:500055
Prader-Willi Syndrome	Gastroparesis, Decreased response to growth hormone stimulation test, Abnormality of the dentitio...	ORPHA:739
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Abdominal distention, Peritonitis, Microcolon, Ileal atresia	OMIM:619351
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Decreased response to growth hormone stimulation test, Micrognathia, Thin ...	OMIM:616007
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Abnormal cortical gyration, Narrow mouth, Thick lower lip vermilion, Mesiodens, Constipation, Lon...	ORPHA:314647
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Anemia, Weight loss	ORPHA:90060
Posterior Column Ataxia With Retinitis Pigmentosa	Achalasia	OMIM:609033
8P23.1 Microdeletion Syndrome	Short stature, Cryptorchidism, Obesity, Weight loss, Growth delay, High palate, Intrauterine grow...	ORPHA:251071
Deafness, Congenital, With Vitiligo And Achalasia	Achalasia	OMIM:221350
Epidermolysis Bullosa, Lethal Acantholytic	Neonatal death, Natal tooth	OMIM:609638
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Reye syndrome-like episodes, Diarrhea, Vomiting, Hepatic steatosis	ORPHA:348
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Feeding difficulties, Esophagitis, Achalasia, Hepatic steatosis	OMIM:615356
Retinal Dystrophy And Microvillus Inclusion Disease	Chronic diarrhea	OMIM:619446
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Narrow mouth, Diarrhea, Feeding difficulties, Recurrent pancreatitis, Vomit...	OMIM:606721
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Micrognathia, Supernumerary tooth, Widely spaced teeth, Hypodontia, Microdontia	ORPHA:90024
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Lymphopenia, Polymicrogyria	OMIM:619708
Fatal Familial Insomnia	Weight loss, Dysphagia	OMIM:600072
Hyperzincemia With Functional Zinc Depletion	Hepatomegaly, Diarrhea	OMIM:601979
Progressive Multifocal Leukoencephalopathy	Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells	ORPHA:217260
Colchicine Poisoning	Leukocytosis, Vomiting, Nausea, Diarrhea	ORPHA:31824
Hereditary Fructose Intolerance	Hepatomegaly, Abdominal pain, Abdominal distention, Jaundice, Diarrhea, Vomiting, Constipation, C...	ORPHA:469
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, Hepatitis, Cholestasis, Dysphagia, G...	ORPHA:198
Diarrhea 1, Secretory Chloride, Congenital	Abdominal distention, Hyperaldosteronism, Secretory diarrhea, Elevated stool chloride content	OMIM:214700
Lymphoid Interstitial Pneumonia	Hepatomegaly, Failure to thrive, Mediastinal lymphadenopathy, Weight loss	ORPHA:79128
Restrictive Dermopathy	Natal tooth, Micrognathia, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard ...	ORPHA:1662
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Weight l...	ORPHA:91139
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Diarrhea, Hyperaldosteronism, Vomiting, Feeding difficulties	OMIM:177735
Multicentric Osteolysis, Nodulosis, And Arthropathy	Hypoplasia of the maxilla, Delayed eruption of teeth, Gingival overgrowth, Micrognathia	OMIM:259600
Pseudohypoparathyroidism Type 1C	Delayed eruption of teeth, Abdominal symptom, Decreased response to growth hormone stimulation te...	ORPHA:79444
Tropical Endomyocardial Fibrosis	Splenomegaly, Hepatomegaly, Eosinophilia, Cachexia	ORPHA:75565
Neonatal Inflammatory Skin And Bowel Disease	Chapped lip, Anal fissure, Perianal dermatitis, Bloody diarrhea, Recurrent gastroenteritis	ORPHA:294023
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr...	ORPHA:103918
Familial Glucocorticoid Deficiency	Decreased circulating cortisol level, Anorexia, Cryptorchidism, Diarrhea, Testicular adrenal rest...	ORPHA:361
Cholestasis, Progressive Familial Intrahepatic, 6	Intrahepatic cholestasis, Periportal fibrosis, Chronic diarrhea	OMIM:619484
Glutaric Aciduria Iii	Diarrhea, Vomiting, Goiter	OMIM:231690
Acute Adrenal Insufficiency	Normocytic anemia, Nausea and vomiting, Decreased circulating cortisol level, Anorexia, Abdominal...	ORPHA:95409
Mitochondrial Dna Depletion Syndrome 11	Chronic diarrhea, Nausea	OMIM:615084
Poems Syndrome	Weight loss, Lymphadenopathy, Thrombocytosis, Polycythemia, Increased circulating prolactin conce...	ORPHA:2905
Leptospirosis	Nausea and vomiting, Hepatomegaly, Anorexia, Abdominal pain, Jaundice, Diarrhea, Hepatitis, Lymph...	ORPHA:509
Pseudohypoparathyroidism Type 1A	Delayed eruption of teeth, Abdominal symptom, Decreased response to growth hormone stimulation te...	ORPHA:79443
Graves Disease, Susceptibility To, 1	Weight loss, Goiter	OMIM:275000
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Jaundice, Ovarian neoplasm, Weight loss, Pancreatitis, Anemia	ORPHA:370348
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of permanent teeth, Short phi...	ORPHA:521445
Cocaine Intoxication	Abdominal pain, Intestinal perforation, Bloody diarrhea, Gastrointestinal infarctions, Colitis, V...	ORPHA:90068
Glossopharyngeal Neuralgia	Odynophagia, Weight loss, Oral-pharyngeal dysphagia	ORPHA:221098
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Intestinal malrotation, Exocrine pancreatic insufficiency, Biliary atresia, Feeding difficulties,...	ORPHA:2255
Hypercalcemia, Infantile, 1	Failure to thrive, Weight loss	OMIM:143880
Sotos Syndrome	Aganglionic megacolon, Abnormality of the dentition, No permanent dentition, Cryptorchidism, Feed...	ORPHA:821
Dopamine Beta-Hydroxylase Deficiency	Diarrhea, Vomiting, Anemia	ORPHA:230
Acute Liver Failure	Gastrointestinal hemorrhage, Jaundice, Diarrhea, Hepatitis, Hepatic necrosis, Hepatocellular necr...	ORPHA:90062
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Decreased circulating IgG level, Absent gallbladder, Gastroparesis, Hypoplasia of the maxilla, Fe...	ORPHA:500150
Central Hypoventilation Syndrome, Congenital, 1	Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficul...	OMIM:209880
Microphthalmia, Syndromic 1	Dental crowding, Aganglionic megacolon, Cleft upper lip, High, narrow palate, Rectal prolapse, Py...	OMIM:309800
Huntington Disease-Like 1	Weight loss	ORPHA:157941
Ramon Syndrome	Delayed eruption of teeth, Gingival fibromatosis, Narrow palate	OMIM:266270
Autosomal Dominant Progressive External Ophthalmoplegia	Gastroparesis, Abnormality of the liver, Constipation, Gastroesophageal reflux, Dysphagia, Goiter	ORPHA:254892
Townes-Brocks Syndrome 1	Anal stenosis, Rectoperineal fistula, Cryptorchidism, Tracheoesophageal fistula, Gastroesophageal...	OMIM:107480
Young-Onset Parkinson Disease	Diarrhea, Constipation, Nausea, Gastroparesis	ORPHA:2828
Odontomicronychial Dysplasia	Premature eruption of permanent teeth	OMIM:601319
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Thin upper lip vermilion, Hypertriglyceridemia, Decreased response to growth hormone...	ORPHA:3455
Car T Cell Therapy-Associated Cytokine Release Syndrome	Diarrhea, Vomiting, Nausea, Poor appetite	ORPHA:542323
Amyloidosis, Hereditary, Transthyretin-Related	Episodic vomiting, Diarrhea, Constipation	OMIM:105210
Ethylmalonic Encephalopathy	Diarrhea	ORPHA:51188
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Gastroparesis, Intestinal pseudo-obstruction, Dysphagia	OMIM:607459
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o...	OMIM:204690
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
African Trypanosomiasis	Hepatomegaly, Splenomegaly, Jaundice, Diarrhea, Hepatosplenomegaly, Lymphadenopathy, Abnormal pro...	ORPHA:3385
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Short dental root, Hypoplasia of the nasal bone,...	ORPHA:93357
Enterokinase Deficiency	Diarrhea	OMIM:226200
Mucolipidosis Type Ii	Short stature, Postnatal growth retardation, Splenomegaly, Weight loss, Hepatosplenomegaly	ORPHA:576
Cystinosis, Nephropathic	Hepatomegaly, Short stature, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegal...	OMIM:219800
Isotretinoin-Like Syndrome	Lymphopenia	ORPHA:2306
Wrinkly Skin Syndrome	Microretrognathia, Delayed eruption of teeth, Carious teeth, Cryptorchidism, High palate, Long ph...	OMIM:278250
Perry Syndrome	Weight loss	ORPHA:178509
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, High palate, Widely spaced teeth, Long philtrum, Microdontia	OMIM:143095
Wrinkly Skin Syndrome	Delayed eruption of teeth, Carious teeth, Cryptorchidism, High palate, Small, conical teeth, Smoo...	ORPHA:2834
Loeffler Endocarditis	Eosinophilia, Weight loss	ORPHA:75566
Focal Myositis	Weight loss	ORPHA:48918
Pneumocystosis	Weight loss, Abnormal neutrophil count	ORPHA:723
Achalasia, Familial Esophageal	Achalasia, Xerostomia	OMIM:200400
Enamel-Renal Syndrome	Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv...	ORPHA:1031
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin...	OMIM:619269
Pallister-Killian Syndrome	Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, Bifid uvula, Cryptorchidism, Po...	OMIM:601803
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux...	OMIM:619482
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Microretrognathia, Gastroparesis, Cryptorchidism, Long philtrum, Neonatal death	OMIM:614052
Blue Diaper Syndrome	Diarrhea	ORPHA:94086
Acute Transverse Myelitis	Paralytic ileus, Constipation, Abscess, Gastroparesis	ORPHA:139417
Occipital Horn Syndrome	Hiatus hernia, Chronic diarrhea, High palate, Long philtrum	OMIM:304150
Non-Functioning Paraganglioma	Weight loss	ORPHA:94080
Glucose-Galactose Malabsorption	Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Vomiting	ORPHA:35710
Restrictive Dermopathy 1	Natal tooth, Micrognathia, Submucous cleft hard palate, Temporomandibular joint ankylosis, Stillb...	OMIM:275210
Pallister-Hall Syndrome	Microretrognathia, Natal tooth, Decreased testicular size, Hypopituitarism, Thyroid hypoplasia, A...	ORPHA:672
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Weight loss, Goiter	OMIM:188580
Congenital Disorder Of Glycosylation, Type Im	Diarrhea, Vomiting, Increased circulating free fatty acid level	OMIM:610768
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Intestinal obstruction, Weight loss, Granulomatosis, Pancreatitis	ORPHA:900
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Weight loss, Goiter	OMIM:613239
Neuropathy, Hereditary Sensory And Autonomic, Type V	Diarrhea, Constipation	OMIM:608654
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Testicular atrophy, Gastroparesis, Dysphagia	OMIM:157640
Autosomal Dominant Epidermolytic Ichthyosis	Weight loss	ORPHA:312
Distal Renal Tubular Acidosis	Hemolytic anemia, Poor appetite, Diarrhea, Constipation, Vomiting	ORPHA:18
Encephalopathy, Ethylmalonic	Chronic diarrhea, Feeding difficulties	OMIM:602473
Autosomal Recessive Cutis Laxa Type 1	Pyloric stenosis, Intrauterine growth retardation, Severe short stature, Small bowel diverticula	ORPHA:90349
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Delayed eruption of primary teeth	OMIM:300952
Osteosarcoma	Weight loss	ORPHA:668
Gitelman Syndrome	Neoplasm of the pancreas, Nausea and vomiting, Abdominal pain, Diarrhea, Parathyroid adenoma, Iro...	ORPHA:358
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Thin upper lip vermilion, Gastroparesis, Decreased response to growth hormone stimulation test, A...	ORPHA:177901
Serotonin Syndrome	Diarrhea, Hepatic failure, Nausea	ORPHA:43116
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Achalasia, Dysphagia	OMIM:300858
Achalasia-Addisonianism-Alacrima Syndrome	Achalasia, Decreased circulating cortisol level	OMIM:231550
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98754
Pyomyositis	Leukocytosis, Weight loss, Testicular teratoma	ORPHA:764
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Pancreatic hypoplasia, Intrauterine growth retardation, Failure to thrive, Reduced p...	ORPHA:99885
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:98793
Bullous Pemphigoid	Weight loss	ORPHA:703
Autosomal Dominant Cutis Laxa	Feeding difficulties, Vomiting, Small bowel diverticula	ORPHA:90348
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Gastroparesis, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	ORPHA:177904
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Breast aplasia, Abnormality of the dentition	ORPHA:2036
Specc1L-Related Hypertelorism Syndrome	Cryptorchidism, Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtru...	ORPHA:1519
Short Syndrome	Severe short stature, Weight loss	ORPHA:3163
Liposarcoma	Weight loss	ORPHA:69078
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Weight loss	ORPHA:79127
Hereditary Late-Onset Parkinson Disease	Weight loss, Dysphagia	ORPHA:411602
Erythroderma Desquamativum	Diarrhea	ORPHA:314
Norrie Disease	Cryptorchidism, Failure to thrive, Cachexia, Delayed puberty	ORPHA:649
Postinfectious Vasculitis	Viral hepatitis, Orchitis, Weight loss, Gastrointestinal inflammation, Unusual gastrointestinal i...	ORPHA:48435
Nmda Receptor Encephalitis	Ovarian teratoma, Neoplasm of the thymus, Diarrhea, Vomiting, Testicular teratoma	ORPHA:217253
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Polymicrogyria, Gastroparesis, Bowel incontinence	OMIM:618877
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Weight loss, Dysphagia	ORPHA:93672
Perry Syndrome	Weight loss	OMIM:168605
Complement Component 5 Deficiency	Intractable diarrhea	OMIM:609536
Familial Hypoaldosteronism	Nausea and vomiting, Diarrhea, Feeding difficulties	ORPHA:427
Cerebrotendinous Xanthomatosis	Cholelithiasis, Premature loss of teeth, Chronic diarrhea, Prolonged neonatal jaundice	ORPHA:909
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:276621
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Goiter, Weight loss, Small for gestational age, Thyroid hyperplasia	ORPHA:424
Granulomatosis With Polyangiitis	Granulomatosis, Weight loss	OMIM:608710
Rheumatoid Arthritis	Weight loss	OMIM:180300
Cardiospondylocarpofacial Syndrome	Gastroparesis, Feeding difficulties, Wide mouth, Gastroesophageal reflux, Long philtrum, Decrease...	OMIM:157800
Choreoacanthocytosis	Hepatomegaly, Acanthocytosis, Protruding tongue, Splenomegaly, Abnormal erythrocyte enzyme level,...	ORPHA:2388
Scorpion Envenomation	Acute pancreatitis, Vomiting, Diarrhea, Abdominal pain	ORPHA:466677
Pemphigus Vulgaris	Weight loss	ORPHA:704
Renal Nutcracker Syndrome	Anemia, Weight loss	ORPHA:71273
Adrenocortical Carcinoma	Adrenocorticotropic hormone deficiency, Increased body weight, Weight loss	ORPHA:1501
Dermatomyositis	Gastrointestinal stroma tumor, Abnormal eosinophil morphology, Weight loss	ORPHA:221
Igg4-Related Retroperitoneal Fibrosis	Hydrocele testis, Normocytic anemia, Weight loss	ORPHA:49041
Erdheim-Chester Disease	Retroperitoneal fibrosis, Anemia, Weight loss	ORPHA:35687
Parkinson Disease 4, Autosomal Dominant	Weight loss	OMIM:605543
Oculopharyngodistal Myopathy 1	Weight loss, High palate, Dysphagia	OMIM:164310
Familial Gestational Hyperthyroidism	Goiter, Diarrhea, Thyroid hyperplasia	ORPHA:99819
Acquired Central Diabetes Insipidus	Weight loss	ORPHA:95626
Congenital Fiber-Type Disproportion Myopathy	Weight loss, Failure to thrive, High palate, Dysphagia	ORPHA:2020
Nocardiosis	Lymphadenitis, Peritonitis, Liver abscess, Weight loss	ORPHA:31204
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocytoma	ORPHA:29072
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Achalasia	ORPHA:91416
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Diarrhea, Hyperaldosteronism, Constipation, Vomiting	OMIM:601678
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Secretory diarrhea	OMIM:614441
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin...	ORPHA:91347
Gerstmann-Straussler Disease	Weight loss	OMIM:137440
Bartter Syndrome, Type 2, Antenatal	Diarrhea, Hyperaldosteronism, Constipation, Vomiting, Impaired platelet aggregation	OMIM:241200
Pulmonary Alveolar Microlithiasis	Hepatomegaly, Testicular microlithiasis, Weight loss	ORPHA:60025
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	Short stature, Testicular adrenal rest tumor, Weight loss, Failure to thrive, Decreased testicula...	ORPHA:90794
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Normochromic anemia, Reduced hematocrit, Weight loss	ORPHA:91500
Primary Fanconi Renotubular Syndrome	Growth delay, Weight loss	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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