Not currently registered for phenotyping at IMPC

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

Gene Summary

serine/threonine kinase 11
Lkb1,  Par-4

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Stk11 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.

The table below shows human diseases associated to Stk11 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Stk11 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic polyposis, Colon ... OMIM:610069
Cowden-Like syndrome
Endometrial carcinoma, Breast carcinoma, Papillary thyroid carcinoma, Uterine leiomyoma OMIM:612359
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps OMIM:175505
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Colorectal Cancer
Transitional cell carcinoma of the bladder, Neoplasm of the stomach, Hereditary nonpolyposis colo... OMIM:114500
Polymerase Proofreading-Related Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Adenomatous colonic polyposis, Endometrial carcinom... ORPHA:447877
Familial Adenomatous Polyposis 4
Astrocytoma, Papilloma, Stomach cancer, Thyroid adenoma OMIM:617100
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Muir-Torre Syndrome
Neoplasm of the skin, Malignant genitourinary tract tumor, Neoplasm of the stomach, Endometrial c... ORPHA:587
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Endometrial Cancer
Endometrial carcinoma OMIM:608089
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Astrocytoma, Neoplasm of the stomach, Adenomatous colonic... ORPHA:220460
Spermatogenic Failure 5
Functional abnormality of male internal genitalia, Male infertility OMIM:243060
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Hereditary Mixed Polyposis Syndrome
Colorectal polyposis, Rectal polyposis, Thyroid carcinoma, Neoplasm of the rectum, Adenomatous co... ORPHA:157794
Gastric Cancer
Stomach cancer OMIM:613659
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Serrated Polyposis Syndrome
Colorectal polyposis, Ovarian neoplasm, Bladder carcinoma, Hodgkin lymphoma, Adenomatous colonic ... ORPHA:157798
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Rectal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colo... ORPHA:247798
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Multiple cutaneous leiomyomas, Uterine leiomyosarcoma, Va... ORPHA:523
Msh3-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the skin, Juvenile gastrointestinal polyposis, Astrocytoma, Neo... ORPHA:480536
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon ... OMIM:619101
Apc-Related Attenuated Familial Adenomatous Polyposis
Astrocytoma, Adenomatous colonic polyposis, Multiple gastric polyps, Papillary thyroid carcinoma,... ORPHA:247806
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Rectal polyposis, Adenomatous colonic polyposis, Multiple gastric polyps, Duodenal polyposis, Sma... ORPHA:329971
Gardner Syndrome
Astrocytoma, Adenomatous colonic polyposis, Small intestine carcinoid, Brain neoplasm, Papillary ... ORPHA:79665
Hirschsprung Disease
Nausea and vomiting, Aganglionic megacolon, Functional abnormality of the gastrointestinal tract,... ORPHA:388
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Peutz-Jeghers Syndrome
Rectal prolapse, Neoplasm of the small intestine, Gastrointestinal hemorrhage, Abdominal pain, En... ORPHA:2869
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Desmoid Tumor
Neoplasm of the skin, Desmoid tumors, Malabsorption, Intestinal obstruction, Gastrointestinal hem... ORPHA:873
Cowden syndrome 3
Renal cell carcinoma, Neoplasm of the thyroid gland, Uterine leiomyoma OMIM:615106
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Volvulus Of Midgut
Neonatal intestinal obstruction, Abdominal distention, Volvulus, Intestinal malrotation, Constipa... OMIM:193250
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Gastrointestinal Stromal Tumor
Nausea and vomiting, Dysphagia, Neoplasm of the rectum, Gastrointestinal stroma tumor, Neoplasm o... ORPHA:44890
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Gist-Plus Syndrome
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis OMIM:175510
Pten Hamartoma Tumor Syndrome
Thyroid carcinoma, Endometrial carcinoma, Hemangioma, Renal cell carcinoma, Neoplasm, Thyroid ade... ORPHA:306498
Trehalase Deficiency
Vomiting, Abdominal distention, Malabsorption, Diarrhea, Abdominal pain ORPHA:103909
Diffuse Gastric And Lobular Breast Cancer Syndrome
Cleft palate, Stomach cancer, Neoplasm OMIM:137215
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... OMIM:618751
Spermatogenic Failure 49
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... OMIM:619094
Colorectal polyposis, Neoplasm of the adrenal gland, Functional intestinal obstruction, Episodic ... ORPHA:251992
Familial Adenomatous Polyposis
Neoplasm of the gallbladder, Astrocytoma, Neoplasm of the adrenal gland, Cholangiocarcinoma, Aden... ORPHA:733
Visceral Myopathy 2
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, G... OMIM:619350
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 46
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... OMIM:619095
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 1
Infertility OMIM:615774
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal cell carcinoma, Large intestinal polyposis, Cutaneous leiomyosarcoma, Col... OMIM:135150
Spermatogenic Failure 1
Oligospermia, Male infertility, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Oligospermia, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 7
Oligospermia, Male infertility, Immotile sperm, Reduced sperm motility OMIM:612997
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 11
Oligospermia, Male infertility, Abnormal sperm morphology, Reduced sperm motility OMIM:615081
Nk-Cell Enteropathy
Intestinal polyp, Duodenal ulcer, Gastric ulcer, Abnormal gastric mucosa morphology, Lymphoprolif... ORPHA:263665
Spermatogenic Failure 47
Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella OMIM:619102
Spermatogenic Failure 58
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... OMIM:619585
Isolated Polycystic Liver Disease
Hepatomegaly, Feeding difficulties in infancy, Abdominal distention, Polycystic liver disease, Ab... ORPHA:2924
Spermatogenic Failure 40
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... OMIM:618664
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Chronic Diarrhea Due To Glucoamylase Deficiency
Vomiting, Nausea, Abdominal distention, Malabsorption, Dyspepsia, Abnormal small intestinal mucos... ORPHA:103907
Spermatogenic Failure, X-Linked, 3
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:301059
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Cutaneous leiomyosarcoma, Cutane... OMIM:150800
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Male infertility, Short sperm flagella OMIM:618670
Squamous Cell Carcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma ORPHA:99977
Spermatogenic Failure 56
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... OMIM:619515
Male Infertility Due To Acephalic Spermatozoa
Oligospermia, Abnormal sperm mid-piece morphology, Reduced sperm motility, Acephalic spermatozoa,... ORPHA:529970
Burkitt Lymphoma
Nausea and vomiting, Abnormality of the ovary, Abnormality of the liver, Intestinal obstruction, ... ORPHA:543
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Spermatogenic Failure 42
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... OMIM:618745
Diarrhea 8, Secretory Sodium, Congenital
Secretory diarrhea, Abdominal distention, Inflammation of the large intestine, Elevated fecal sodium OMIM:616868
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619528
Spermatogenic Failure 39
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618643
Colonic Atresia
Colonic atresia, Abdominal distention OMIM:303650
Mantle Cell Lymphoma
Anorexia, Lymphadenopathy, Splenomegaly, B-cell lymphoma, Abnormality of the gastrointestinal tract ORPHA:52416
Cap Polyposis
Colorectal polyposis, Constipation, Atrophic gastritis, Abdominal distention, Diarrhea, Abdominal... ORPHA:160148
Spermatogenic Failure 54
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... OMIM:619379
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal intestine morphology, Neoplasm of the lung, Neoplasm of the pancre... ORPHA:2591
Desmoplastic Small Round Cell Tumor
Hepatomegaly, Nausea and vomiting, Neoplasm of the central nervous system, Mediastinal lymphadeno... ORPHA:83469
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia OMIM:619145
Wolman Disease
Hepatomegaly, Nausea and vomiting, Esophageal varix, Ascites, Abdominal distention, Anemia, Bone-... ORPHA:75233
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Intestinal obstruction, Crohn's disease, Rec... OMIM:266600
Gastrointestinal Stromal Tumor
Dysphagia, Gastrointestinal stroma tumor, Intestinal obstruction, Constipation, Neurofibromas OMIM:606764
Cronkhite-Canada Syndrome
Hepatomegaly, Anorexia, Stomach cancer, Gastrointestinal carcinoma, Furrowed tongue, Neoplasm, Ma... ORPHA:2930
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Breast carcinoma, Ovarian carcinoma OMIM:613399
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Abnormal esophagus physiology, Dysphagia, Hepatomegaly, Esophageal neoplasm, Abnormal large intes... ORPHA:2198
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Atresia Of Small Intestine
Vomiting, Feeding difficulties, Abdominal distention, Jejunal atresia, Intestinal malrotation, In... ORPHA:1201
Carney-Stratakis Syndrome
Dysphagia, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Gastrointestinal... ORPHA:97286
Primary Peritoneal Carcinoma
Nausea and vomiting, Peritonitis, Abdominal distention, Neoplasm, Abdominal pain, Constipation ORPHA:168829
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Pseudomyxoma Peritonei
Nausea and vomiting, Inflammation of the large intestine, Intestinal obstruction, Abdominal pain,... ORPHA:26790
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Li-Fraumeni Syndrome
Ovarian neoplasm, Acute lymphoblastic leukemia, Astrocytoma, Thyroid carcinoma, Choriocarcinoma, ... ORPHA:524
Malignant Peritoneal Mesothelioma
Peritonitis, Abdominal distention, Neoplasm, Ileus, Abdominal pain ORPHA:168811
Inflammatory Pseudotumor Of The Liver
Vomiting, Nausea, Abdominal distention, Abnormal liver sonography, Neoplasm of the liver, Cirrhos... ORPHA:90003
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Osteoma, High palate, Adenomatous colonic polyposis, Desmoid tumors, Hepatoblastoma, Duodenal pol... ORPHA:261584
Hereditary Breast And Ovarian Cancer Syndrome
Ovarian neoplasm, Neoplasm of the pancreas, Breast carcinoma, Abnormal fallopian tube morphology,... ORPHA:145
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Abnormal intestine morphology, Lymphadenopathy, Splenomegaly, Diarrhea, Autoimmune ... OMIM:618495
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Dependency on parenteral nutrition, Vomiting, Abdominal distention, Microvillus ... OMIM:619445
Cowden Syndrome
Neoplasm of the skin, Meningioma, Endometrial carcinoma, Papilloma, Conjunctival hamartoma, Enlar... ORPHA:201
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Glioblastoma multiforme, Colon cancer OMIM:619096
Lynch Syndrome
Ovarian neoplasm, Neuroblastoma, Nausea and vomiting, Neoplasm of the rectum, Hepatocellular carc... ORPHA:144
Partial Chromosome Y Deletion
Oligospermia, Abnormal spermatogenesis, Male infertility, Non-obstructive azoospermia ORPHA:1646
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal dysgenesis with female appearance, male... ORPHA:206484
Liver Failure, Infantile, Transient
Microvesicular hepatic steatosis, Hepatomegaly, Feeding difficulties in infancy, Vomiting, Abdomi... OMIM:613070
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Vomiting, Abdominal distention, Abnormality of enteric ganglion morphology... OMIM:142623
Congenital Pancreatic Cyst
Anorexia, Vomiting, Abdominal distention, Pancreatitis, Abdominal pain, Jaundice ORPHA:313906
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Spermatogenic Failure 35
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 18
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella OMIM:617592
Cirrhosis, Familial
Abdominal distention, Micronodular cirrhosis, Esophageal varix, Jaundice OMIM:215600
Alpha-Heavy Chain Disease
Hepatomegaly, Abnormality of the small intestine, Ascites, Lymphadenopathy, Anemia, Malabsorption... ORPHA:100025
Adenocarcinoma Of The Esophagus
Nausea and vomiting, Feeding difficulties in infancy, Esophageal carcinoma, Barrett esophagus, Ga... ORPHA:99976
Ovarian Fibroma
Abnormality of the ovary, Odontogenic keratocysts of the jaw, Peritonitis, Abdominal distention, ... ORPHA:314473
Budd-Chiari Syndrome
Hepatomegaly, Gastrointestinal infarctions, Esophageal varix, Peritonitis, Malabsorption, Cirrhos... ORPHA:131
Placental Insufficiency
Eclampsia, Preeclampsia, Maternal hypertension, Spontaneous abortion, Small placenta, Abnormal pl... ORPHA:439167
Turcot Syndrome With Polyposis
Astrocytoma, Thyroid carcinoma, Adenomatous colonic polyposis, Leukemia, Brain neoplasm, Basal ce... ORPHA:99818
Hyperlipoproteinemia, Type Id
Hepatomegaly, Colitis, Splenomegaly OMIM:615947
Congenital Sucrase-Isomaltase Deficiency
Abdominal distention, Diarrhea, Vomiting, Abdominal colic ORPHA:35122
Adiposis Dolorosa
Abdominal distention, Painful subcutaneous lipomas, Constipation OMIM:103200
Glycine N-Methyltransferase Deficiency
Elevated hepatic transaminase, Hepatomegaly OMIM:606664
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Peritonitis, Abdominal distention, Diff... ORPHA:314478
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Congenital Disorder Of Glycosylation, Type Icc
Hepatomegaly OMIM:301031
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Gastrointestinal dysmotility, Abdominal distention, Malabsorption, Malnutrition, Abdominal pain, ... OMIM:613662
Cowden Syndrome 7
Trichilemmoma, Hemangioma, Papillary thyroid carcinoma, Breast carcinoma, Intestinal polyposis, P... OMIM:616858
Primary Effusion Lymphoma
Abdominal distention, B-cell lymphoma, Abdominal pain ORPHA:48686
Carcinoma Of Esophagus
Dysphagia, Abnormal intestine morphology, Esophageal neoplasm, Barrett esophagus, Gastroesophagea... ORPHA:70482
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Esophageal varix, Splenomegaly, Elevated hepatic transaminase, Portal hypertension OMIM:617068
Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal hemorrhage, Intrahepatic ... ORPHA:97278
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Feeding difficulties, Abdominal distention, Cholestasis, Hepatic failure, Elevated ... OMIM:618528
Peutz-Jeghers Syndrome
Rectal prolapse, Biliary tract abnormality, Gastrointestinal carcinoma, Neoplasm of the pancreas,... OMIM:175200
Neoplasm of the thymus, Neoplasm of the small intestine, Intestinal carcinoid, Gastrointestinal h... ORPHA:97261
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Tyrosinemia Type 1
Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma, Splenomegaly ORPHA:882
Familial Colorectal Cancer Type X
Nausea and vomiting, Neuroblastoma, Neoplasm of the rectum, Stomach cancer, Hepatocellular carcin... ORPHA:440437
Juvenile Polyposis Syndrome
Visceral angiomatosis, Hemangioblastoma, Neoplasm of the small intestine, Intussusception, Gastro... ORPHA:2929
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Hepatic fibrosis, Portal fibrosis, Hepatocellular carcinoma, Increased hepatic glyc... ORPHA:369
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Hepatomegaly, Diarrhea, Vomiting OMIM:605911
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Gastrointestinal hemorrhage, Neonatal chole... ORPHA:79301
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Malabsorption, Neoplasm, Splenomegaly, Cholestasis, Jaundice ORPHA:172
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Pyloric stenosis, Feeding difficulties in infancy, Increased mean platelet volume, Vomiting, Inte... OMIM:300048
Neoplasm of the small intestine, Gastrointestinal hemorrhage, Steatorrhea, Intrahepatic cholestas... ORPHA:97283
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Peroxisome Biogenesis Disorder 10A (Zellweger)
Feeding difficulties, Hepatomegaly, High palate OMIM:614882
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Macroorchidism, Vomiting, Endometrial carcinoma, Breast carcinoma, Female external genitalia in i... ORPHA:90790
Waardenburg-Shah Syndrome
Abnormal intestine morphology, Aganglionic megacolon, Intestinal obstruction, Abdominal pain, Con... ORPHA:897
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Neuroendocrine Neoplasm Of Appendix
Ovarian neoplasm, Midgut malrotation, Appendiceal mucinous neoplasm, Nausea and vomiting, Constip... ORPHA:100079
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Ascites, Vomiting, Abdominal distention, Anemia, Decreased liver function, Cholesta... OMIM:608104
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Portal fibrosis, Bile duct proliferation, Malabsorption, Splenomegaly, Cirrhosis, E... OMIM:602347
Zollinger-Ellison Syndrome
Duodenal ulcer, Gastrointestinal hemorrhage, Pituitary corticotropic cell adenoma, Diarrhea, Jaun... ORPHA:913
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Lysosomal Acid Lipase Deficiency
Esophageal varix, Bone-marrow foam cells, Splenomegaly, Hypersplenism, Hepatosplenomegaly, Steato... OMIM:278000
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dysphagia, Tracheobronchial leiomyomatosis, Esophageal neoplasm, Morphological abnormality of the... ORPHA:1018
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Vomiting, Abdominal d... ORPHA:95427
Familial Multinodular Goiter
Colorectal polyposis, Ovarian neoplasm, Testicular seminoma, Thyroid carcinoma, Sertoli cell neop... ORPHA:276399
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Vomiting, Xerostomia, Gastrointestinal carcinoma, Malabsorption, Glossitis, Diarrhea, H... OMIM:175500
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Intestinal polyp, Lactose intolerance, Hypospadias, Hemangioma, Protuberant abdomen, Cryptorchidism ORPHA:457485
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, B-cell lymphoma, Splenomegaly OMIM:619437
Cholesteryl Ester Storage Disease
Hepatomegaly, Nausea and vomiting, Esophageal varix, Splenomegaly, Cirrhosis, Hepatic failure, Di... ORPHA:75234
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Abdominal distention, Polycystic liver disease, Ascites OMIM:174050
Pfapa Syndrome
Hepatomegaly, Nausea and vomiting, Lymphadenopathy, Malabsorption, Splenomegaly, Abdominal pain ORPHA:42642
Glycogen Storage Disease Ixb
Hepatomegaly, Diarrhea, Increased hepatic glycogen content OMIM:261750
Immunodeficiency 48
Hepatomegaly, Diarrhea, Splenomegaly OMIM:269840
Glucose/Galactose Malabsorption
Chronic diarrhea, Abdominal distention, Malabsorption, Hyperactive bowel sounds OMIM:606824
Peritoneal Cystic Mesothelioma
Peritonitis, Abdominal distention, Neoplasm, Abdominal pain, Constipation ORPHA:168816
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Colonic Atresia
Abdominal situs inversus, Abnormality of mesentery morphology, Duodenal stenosis, Abdominal diste... ORPHA:1198
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Intestinal pseudo-obstruction, Spontaneous esophageal perfora... ORPHA:1876
Solitary Fibrous Tumor/Hemangiopericytoma
Genital neoplasm, Neoplasm of the lung, Neoplasia of the pleura, Soft tissue neoplasm, Neoplasm, ... ORPHA:2126
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Abnormal intestine morphology, Vomiting, Malabsorption, Intestinal obstruction, Dia... OMIM:226300
Spermatogenic Failure 38
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... OMIM:618433
Isochromosomy Yp
Male infertility, Azoospermia ORPHA:98797
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Lymphadenopathy, Lymphoma, Splenomegaly, Breast carcinoma, B-cell lymphoma ORPHA:86893
Abdominal distention, Ulcerative colitis, Hematochezia, Enterocolitis OMIM:226150
Mitochondrial Neurogastrointestinal Encephalomyopathy
Dysphagia, Vomiting, Nausea, Gastrointestinal dysmotility, Hypergonadotropic hypogonadism, Abdomi... ORPHA:298
Coproporphyria, Hereditary
Hepatomegaly, Vomiting, Increased fecal coproporphyrin 3, Splenomegaly, Diarrhea, Abdominal pain,... OMIM:121300
Gaucher Disease, Type Ii
Hepatomegaly, Dysphagia, Feeding difficulties, Protuberant abdomen, Anemia, Splenomegaly, Thrombo... OMIM:230900
Radiation Proctitis
Tenesmus, Abnormality of gastrointestinal vasculature, Intestinal obstruction, Abnormal rectum mo... ORPHA:70475
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Chronic diarrhea, B-cell lym... OMIM:619164
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Colon cancer OMIM:300310
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly ORPHA:79281
Mismatch Repair Cancer Syndrome 1
Neuroblastoma, Astrocytoma, Plexiform neurofibroma, Adenocarcinoma of the small intestine, Adenom... OMIM:276300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Splenomegaly, Diarrhea, T lymphocytopenia OMIM:608971
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Anorexia, Ascites, Nausea, Biliary tract obstruction, Biliary tract neop... ORPHA:100086
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Intestinal obstruction, Gastrointestinal hemorrhage, Recurrent aphthou... ORPHA:343
Peroxisome Biogenesis Disorder 8A (Zellweger)
Hepatomegaly, Feeding difficulties in infancy, Glossoptosis, Elevated circulating aspartate amino... OMIM:614876
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Hepatomegaly, Vomiting, Nausea, Intestinal perforation, Dyspepsia, Decreased liver ... ORPHA:85450
Stomatitis, Gastrointestinal hemorrhage, Steatorrhea, Intrahepatic cholestasis, Parathyroid adeno... ORPHA:97280
Congenital Tufting Enteropathy
Villous atrophy, Vomiting, Abdominal distention, Malabsorption, Anal atresia, Abnormal small inte... ORPHA:92050
Thyroid Hemiagenesis
Macroglossia, Abdominal distention, Constipation, Jaundice ORPHA:95719
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Malabsorption, Splenomegaly, Cirrhosis, Neonatal cholestatic liver disease, Elevate... OMIM:214900
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Abdominal distention, Gastroparesis, Malnutrition, Abdominal ... OMIM:277320
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Endometrial carcinoma, High, narrow palate, Breast carcinoma, Melanoma ORPHA:457212
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Neuroendocrine neoplasm, Anorexia, Neoplasm of the lung, Ascites, Nausea, Biliary t... ORPHA:100085
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Rectal prolapse, Neoplasm of the rectum, Anal canal squamous cell carcinoma... ORPHA:424019
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Persistence of hemoglobin F, Splenomegaly ORPHA:46532
Amoebiasis Due To Entamoeba Histolytica
Bloody diarrhea, Gastrointestinal dysmotility, Protracted diarrhea, Acute colitis, Intestinal obs... ORPHA:67
Benign Schwannoma
Vestibular Schwannoma, Abnormal parotid gland morphology, Peripheral Schwannoma, Abnormality of t... ORPHA:252164
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Chylomicron Retention Disease
Vomiting, Acanthocytosis, Abdominal distention, Increased hepatocellular lipid droplets, Hepatic ... ORPHA:71
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Low posterior hairline, Delayed eruption of teeth, Small placenta ORPHA:73272
Tylosis With Esophageal Cancer
Neoplasm, Esophageal carcinoma OMIM:148500
Stillbirth OMIM:265880
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Abdominal pain, Splenomegaly OMIM:118830
Hemoglobin H Disease
Hepatomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Splenomegaly, Hemolytic anemia OMIM:613978
Barrett Esophagus
Barrett esophagus, Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma OMIM:614266
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Galactose Epimerase Deficiency
Hepatomegaly, Nausea and vomiting, Feeding difficulties, Splenomegaly, Jaundice ORPHA:79238
Mismatch Repair Cancer Syndrome 3
Astrocytoma, Neoplasm of the rectum, Glioblastoma multiforme, Lisch nodules, Lymphoma, T-cell lym... OMIM:619097
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility OMIM:261550
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Splenomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:614480
Secondary Intestinal Lymphangiectasia
Celiac disease, Increased stool alpha1-antitrypsin concentration, Vomiting, Volvulus, Malabsorpti... ORPHA:90363
Macroglossia, Feeding difficulties, Abdominal distention, Constipation ORPHA:95713
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Cirrhosis, Intrahepatic cholestasis, Diarrh... OMIM:601847
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Cowden Syndrome 1
High palate, Meningioma, Transitional cell carcinoma of the bladder, Carcinoma, Ovarian cyst, Fur... OMIM:158350
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Nausea and vomiting, Acholic stools, Biliary tract abnormality, Multiple lipomas, A... ORPHA:1414
Lambert Syndrome
Branchial anomaly ORPHA:1296
Leiomyoma Of Vulva And Esophagus
Clitoral hypertrophy, Esophageal obstruction OMIM:150700
Oligodontia-Colorectal Cancer Syndrome
Breast carcinoma, Fundic gland polyposis, Adenomatous colonic polyposis, Colon cancer OMIM:608615
Cowden Syndrome 6
High palate, Meningioma, Transitional cell carcinoma of the bladder, Ovarian cyst, Furrowed tongu... OMIM:615109
Mccune-Albright Syndrome
Pituitary adenoma, Precocious puberty, Intestinal polyposis OMIM:174800
Congenital Hypothyroidism
Feeding difficulties in infancy, Macroglossia, Abdominal distention, Hypogonadism, Intestinal obs... ORPHA:442
Ménétrier Disease
Anorexia, Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Vomi... ORPHA:2494
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Malabsorption, Chronic diarrhea, Intestinal obstruction, Hypogonadism, Squa... OMIM:601675
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Meningioma, Abnormal large intestine morphology, Neoplasm of the breast, Neopl... ORPHA:109
Silver-Russell Syndrome Due To A Point Mutation
Oligohydramnios, Small placenta ORPHA:397590
Porphyria Due To Ala Dehydratase Deficiency
Episodic vomiting, Nausea, Abdominal distention, Increased fecal coproporphyrin 3, Myeloprolifera... ORPHA:100924
Peripheral Primitive Neuroectodermal Tumor
Ovarian neoplasm, Nausea and vomiting, Anorexia, Brain neoplasm, Abdominal distention, Neoplasm o... ORPHA:370348
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Acholic stools, Hepatitis, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic failure, E... OMIM:613812
Steinert Myotonic Dystrophy
Testicular atrophy, Neoplasm of the skin, Non-medullary thyroid carcinoma, Feeding difficulties i... ORPHA:273
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Nephro... ORPHA:158057
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Hepatic failure, Splenomegaly ORPHA:664
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility OMIM:301060
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the breast, Neoplasm of the stomach, Melanoma ORPHA:618
Systemic Primary Carnitine Deficiency
Elevated hepatic transaminase, Hepatomegaly, Vomiting ORPHA:158
Familial Pancreatic Carcinoma
Nausea and vomiting, Anorexia, Intestinal pseudo-obstruction, Functional intestinal obstruction, ... ORPHA:1333
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly, Sarcoma, Mastocytosis ORPHA:66661
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Ascites, Neoplasm ORPHA:1160
Hodgkin Lymphoma
Hepatomegaly, Anorexia, Lymphadenopathy, Neoplasm, Lymphoma, Splenomegaly ORPHA:98293
Inflammatory Bowel Disease (Crohn Disease) 30
Abnormal intestine morphology, Bloody diarrhea, Vomiting, Esophagitis, Duodenitis, Gastritis, Chr... OMIM:619079
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Lymphangiectasis, Villous atrophy, Hepatic fibrosis, Vomiting, Cirrhosis, Hepatic f... OMIM:602579
Visceral Myopathy 1
Dysphagia, Aganglionic megacolon, Megaduodenum, Vomiting, Intestinal pseudo-obstruction, Abdomina... OMIM:155310
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Splenomegaly, Microcytic anemia, Recurrent tonsillitis, Abdominal ... OMIM:618852
Hepatoportal Sclerosis
Esophageal varix, Hepatocellular carcinoma, Ascites, Leukopenia, Anemia, Gastric varix, Splenomeg... ORPHA:64743
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Esophageal varix, Ascites, Hepatocellular carcinoma, Nodular regenerative hyperplas... OMIM:619463
Diarrhea 2, With Microvillus Atrophy
Protracted diarrhea, Malnutrition, Abnormal intestine morphology, Villous atrophy OMIM:251850
Macroorchidism, Gonadal neoplasm, Abdominal distention, Neuroectodermal neoplasm, Isosexual preco... ORPHA:180229
Puerto Rican Infant Hypotonia Syndrome
High palate, Abdominal distention, Narrow palate, Cryptorchidism, Constipation, Chronic constipation OMIM:600096
Waardenburg Syndrome
Abnormal vagina morphology, Aganglionic megacolon, Abnormality of the uterus, Intestinal obstruct... ORPHA:3440
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abdominal distention, Intestinal malrotation, Neoplasm of the heart, Hypoper... ORPHA:2241
Cowden Syndrome 5
High palate, Meningioma, Transitional cell carcinoma of the bladder, Ovarian cyst, Furrowed tongu... OMIM:615108
Retinitis Pigmentosa 59
Elevated hepatic transaminase, Hepatomegaly, Feeding difficulties OMIM:613861
Porphyria, Acute Intermittent
Hepatocellular carcinoma, Vomiting, Nausea, Paralytic ileus, Diarrhea, Abdominal pain, Constipation OMIM:176000
Protuberant abdomen, Hepatosplenomegaly ORPHA:221054
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Hodgkin lymphoma, Celiac dis... OMIM:619375
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Acholic stools, Splenomegaly, Cirrhosis, Steatorrhea, Hepatic... OMIM:607765
Juvenile Polyposis Of Infancy
High, narrow palate, Freckled genitalia, Rectal prolapse, Adenomatous colonic polyposis, Hemangio... ORPHA:79076
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Vomiting, Neoplasm of... ORPHA:251639
Ovarian neoplasm, Neoplasm of the lung, Neoplasm of the breast, Ependymoma, Vomiting, Neoplasm of... ORPHA:251636
Galactosemia Iii
Jaundice, Hepatomegaly, Vomiting, Splenomegaly OMIM:230350
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Large placenta, Umbilical hernia, Polyhydramnios ORPHA:254534
Bile Acid Synthesis Defect, Congenital, 4
Hepatomegaly, Giant cell hepatitis, Elevated hepatic transaminase, Hepatic failure, Prolonged neo... OMIM:214950
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Steatorrhea, Hepatic failure, Elevated hepatic transaminase, Diarrhea... OMIM:235555
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Gastric Volvulus, Intrathoracic
Volvulus, Hiatus hernia OMIM:137210
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Renal oncocytoma, Papillary thyroid carcinoma, Renal cortical adenoma, Breast carcinoma, Neoplasm... ORPHA:97290
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Median cleft palate, Hepatomegaly ORPHA:2432
Juvenile Polyposis Syndrome
Rectal prolapse, Neoplasm of the stomach, Multiple gastric polyps, Intussusception, Duodenal aden... OMIM:174900
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Rectovaginal fistula, Abdominal distention, Intestinal malrotation, Anal atresia, Secretory diarrhea OMIM:270420
Hemoglobin D Disease
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... ORPHA:90039
Immunodeficiency 16
Coombs-positive hemolytic anemia, Kaposi's sarcoma, Pancytopenia, Splenomegaly OMIM:615593
Isochromosomy Yq
Male infertility, Azoospermia ORPHA:98798
Multiple Endocrine Neoplasia Type 4
Insulinoma, Renal angiomyolipoma, Pituitary corticotropic cell adenoma, Parathyroid adenoma, Diar... ORPHA:276152
Intrinsic Factor Deficiency
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Megaloblastic anemia, Mal... OMIM:261000
Microvillus Inclusion Disease
Abdominal distention, Diarrhea, Villous atrophy, Abnormality of small intestinal villus morphology ORPHA:2290
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Persistence of hemoglobin F, Splenomegaly, Microcytic anemia, Erythrocyte inclusion... OMIM:603902
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate producti... OMIM:237800
Permanent Congenital Hypothyroidism
Macroglossia, Feeding difficulties, Abdominal distention, Constipation, Jaundice ORPHA:226292
Aicardi Syndrome
Feeding difficulties in infancy, Cleft palate, Malabsorption, Hepatoblastoma, Precocious puberty,... ORPHA:50
Castleman Disease
Nausea and vomiting, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy, Abdomi... ORPHA:160
Niemann-Pick Disease, Type A
Hepatomegaly, Feeding difficulties in infancy, Constipation, Ascites, Vomiting, Lymphadenopathy, ... OMIM:257200
Combined Saposin Deficiency
Hepatomegaly, Feeding difficulties, Splenomegaly OMIM:611721
Igg4-Related Aortitis
Intestinal obstruction, Abdominal pain ORPHA:449400
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Cleft palate, Ascites, Abdominal distentio... OMIM:235255
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Nonspherocytic hemolytic anemia, Splenomegaly OMIM:206400
Encephalopathy Due To Prosaposin Deficiency
Hepatomegaly, Splenomegaly ORPHA:139406
Mosaic Variegated Aneuploidy Syndrome
Acute lymphoblastic leukemia, Cleft palate, Myelodysplasia, Duodenal atresia, Rhabdomyosarcoma, S... ORPHA:1052
Currarino Syndrome
Gastrointestinal obstruction, Presacral teratoma, Rectovaginal fistula, Abdominal distention, Ana... OMIM:176450
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Lymphoproliferative disorder, Lymphoma, Splenom... OMIM:614470
Multiple Symmetric Lipomatosis
Hepatomegaly, Multiple lipomas ORPHA:2398
46,Xy Sex Reversal 10
Sex reversal, Gonadoblastoma, Dysgerminoma, Micropenis, Ambiguous genitalia, Decreased testicular... OMIM:616425
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Cholelithiasis, Splenomegaly, Cirrhosis, Intrahepatic cholestasis with episodic jau... OMIM:211600
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Inflammation of the large intestine, Hepatitis, Splenomegaly, Aplastic anemia, Panc... OMIM:300635
Familial Mediterranean Fever
Nausea and vomiting, Gastrointestinal infarctions, Peritonitis, Malabsorption, Intestinal obstruc... ORPHA:342
Caroli Disease
Cholangitis, Esophageal varix, Cholangiocarcinoma, Splenomegaly, Intrahepatic cholestasis, Portal... ORPHA:53035
Hereditary Spherocytosis
Hepatomegaly, Abdominal distention, Anemia, Cholelithiasis, Splenomegaly, Extramedullary hematopo... ORPHA:822
Hereditary Hemorrhagic Telangiectasia
Cavernous hemangioma, Esophageal varix, Visceral angiomatosis, Cholelithiasis, Cirrhosis, Gastroi... ORPHA:774
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Hepatocellular Carcinoma
Esophageal varix, Hemobilia, Abdominal distention, Abnormality of the hepatic vasculature, Diarrh... ORPHA:88673
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Dysphagia, Malabsorption, Intestinal obstruction, Gastroesophageal reflux, A... ORPHA:183
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Abdominal distention, Splenomegaly OMIM:602557
Caroli Disease, Isolated
Hepatomegaly, Cholangitis, Esophageal varix, Vomiting, Portal hypertension, Liver abscess OMIM:600643
Primary Biliary Cholangitis
Abnormality of the intrahepatic bile duct, Hepatic fibrosis, Hepatocellular carcinoma, Celiac dis... ORPHA:186
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Splenomegaly OMIM:618541
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Gaucher Disease Type 2
Hepatomegaly, Dysphagia, Splenomegaly ORPHA:77260
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Feeding difficulties in infancy, Macroglossia, Protuberant abdomen, Abdominal distention, Prolong... ORPHA:226313
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia, Splenomegaly, Steatorrhea, Malnutrition, Anemia of inadequate production, E... OMIM:612714
Fetal Akinesia Deformation Sequence 1
Short umbilical cord, Fetal akinesia sequence, Premature birth, Generalized amyotrophy, Arthrogry... OMIM:208150
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hepatitis, Fulminant Viral, Susceptibility To
Hepatomegaly, Nausea, Fulminant hepatitis, Poor appetite, Hepatic failure, Elevated hepatic trans... OMIM:618549
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly OMIM:615158
Congenital Disorder Of Glycosylation, Type Iij
Recurrent infection of the gastrointestinal tract, Hepatomegaly, Feeding difficulties, Splenomega... OMIM:613489
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pulmonary lymphangiectasia, Hepatomegaly, High palate, Ascites, Abdominal distention, Splenomegal... ORPHA:1655
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Hypersplenism, Decreased helper T cell proportion, Splenomegaly OMIM:183350
Lysosomal Acid Lipase Deficiency
Microvesicular hepatic steatosis, Esophageal varix, Abdominal distention, Fatal liver failure in ... ORPHA:275761
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic fibrosis, Hepatic failure, Splenomegaly OMIM:616719
Meckel Syndrome, Type 8
Abdominal distention, Cleft palate OMIM:613885
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Fanconi-Bickel Syndrome
Hepatomegaly, Hepatocellular carcinoma, Increased hepatic glycogen content, Abnormal hepatic glyc... ORPHA:2088
Hepatomegaly, Hepatic fibrosis, Vomiting, Decreased liver function, Gastrointestinal hemorrhage, ... ORPHA:79319
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal fibrosis, Hepatic fibrosis, Iron deficiency anemia, Splenomegaly, Hepatic fa... OMIM:616278
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Colitis, Hemophagocy... OMIM:613101
Sepsis In Premature Infants
Hepatomegaly, Leukocytosis, Neutropenia, Vomiting, Functional abnormality of the gastrointestinal... ORPHA:90051
Sanjad-Sakati Syndrome
Intestinal obstruction, Cryptorchidism, Hypoplasia of penis ORPHA:2323
Cystic Fibrosis
Hepatomegaly, Biliary cirrhosis, Malabsorption, Exocrine pancreatic insufficiency ORPHA:586
Congenital Disorder Of Glycosylation, Type Iir
Hepatomegaly, Ascites, Micronodular cirrhosis, Decreased liver function, Hepatic steatosis, Decre... OMIM:301045
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Acute leukemia, Abnormal stomach morphology, Hypogonadism, Cryptorchidism ORPHA:281090
Cancer-Associated Retinopathy
Cutaneous melanoma, Malignant genitourinary tract tumor, Neoplasm of the breast, Hodgkin lymphoma... ORPHA:71505
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Lymphadenopathy, Extrahepatic cholestasis, Abdominal pain, Jaun... ORPHA:99978
Immunodeficiency 69
Thrombocytosis, Leukocytosis, Anemia, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Diarrhea OMIM:618963
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly OMIM:609016
Porphyria Variegata
Hepatocellular carcinoma, Nausea, Abnormality of the liver, Elevated hepatic transaminase, Ileus,... ORPHA:79473
Familial Papillary Or Follicular Thyroid Carcinoma
Papillary thyroid carcinoma, Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary r... ORPHA:319487
Hyperparathyroidism-Jaw Tumor Syndrome
Nausea and vomiting, Dysphagia, Thyroid carcinoma, Constipation, Uterine leiomyoma, Pancreatic ad... ORPHA:99880
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly OMIM:306000
Nephrotic Syndrome, Type 1
Pyloric stenosis, Abdominal distention, Gastroesophageal reflux OMIM:256300
Bloody mucoid diarrhea, Bloody diarrhea, Tenesmus, Anorexia, Vomiting, Abdominal cramps, Nausea, ... ORPHA:810
Peroxisome Biogenesis Disorder 6A (Zellweger)
Decreased liver function, Hepatomegaly, Feeding difficulties in infancy OMIM:614870
Combined Immunodeficiency-Enteropathy Spectrum
Bloody diarrhea, Peritoneal abscess, Hypoplasia of the thymus, Gastrointestinal atresia, Hepatiti... ORPHA:436252
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Bloody diarrhea, Anorexia, Tenesmus, Constipation, Bowel urgency, Hypoactive bowel ... ORPHA:100082
Classic Hodgkin Lymphoma
Hepatomegaly, Anorexia, Lymphadenopathy, Bone marrow hypocellularity, Neoplasm, Lymphoma, Splenom... ORPHA:391
Qazi-Markouizos Syndrome
High, narrow palate, Abdominal distention, Cryptorchidism, Chronic constipation ORPHA:3010
Acute Intermittent Porphyria
Nausea and vomiting, Pseudobulbar paralysis, Hepatocellular carcinoma, Abdominal distention, Diar... ORPHA:79276
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Ankle flexion contracture, Knee flexion contracture, Camptodactyly, Pulmonary art... ORPHA:435938
Aa Amyloidosis
Hepatomegaly, Vomiting, Nausea, Malabsorption, Chronic diarrhea, Cholestasis, Malnutrition, Abdom... ORPHA:85445
Neu-Laxova Syndrome 1
Short umbilical cord, Hydranencephaly, Decreased fetal movement, Joint contracture of the hand, P... OMIM:256520
Hepatic Veno-Occlusive Disease
Hepatomegaly, Ascites, Elevated hepatic transaminase, Abdominal pain, Jaundice ORPHA:890
Mirizzi Syndrome
Anorexia, Gallbladder perforation, Vomiting, Nausea, Abdominal distention, Cholelithiasis, Pancre... ORPHA:521219
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent infection of the gastrointestinal tract, Leukocytosis, Anorexia, Nausea, Abdominal dist... ORPHA:51890
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly ORPHA:417
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Bloody diarrhea, Anorexia, Bowel urgency, Atypical pulmonary carcinoid tumor, Protr... ORPHA:100080
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Chronic diarrhea, Hepatitis, Villous atrophy, Ileus OMIM:304790
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content OMIM:232700
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Duodenal stenosis ORPHA:1759
Punctate Palmoplantar Keratoderma Type 1
Neoplasm of the lung, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine,... ORPHA:79501
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula OMIM:609166
Parathyroid Carcinoma
Nausea and vomiting, Dysphagia, Thyroid carcinoma, Parathyroid carcinoma, Constipation, Uterine l... ORPHA:143
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Lymphadenopathy, Hepatitis, Splenomegaly, Autoimmune thrombocytopenia, Lymphopenia, Hemolytic ane... ORPHA:444463
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Feeding difficulties, Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Nausea and vomiting, Neuroblastoma, Neoplasm of the lung, Adenomatous colonic polyposis, Elevated... ORPHA:616
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate ... OMIM:613673
Peroxisome Biogenesis Disorder 7A (Zellweger)
Feeding difficulties, Hepatomegaly, High palate, Jaundice OMIM:614872
Lipodystrophy, Congenital Generalized, Type 4
Pyloric stenosis, Hepatomegaly, Dysphagia, Feeding difficulties, Hepatic steatosis, Elevated hepa... OMIM:613327
Letterer-Siwe Disease
Neutropenia, Abdominal distention, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice OMIM:246400
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Cirrhosis, Cholestatic liver disease, ... OMIM:616828
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Redundant neck skin, Macroglossia, Polyhydramnios, Wrist flexion contracture, Diastasis recti, Fl... ORPHA:254528
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Hepatitis, Cirrhosis, Diarrhea, Colitis OMIM:614602
Hepatomegaly, Protuberant abdomen, High palate, Splenomegaly OMIM:269921
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Neoplasm, Lymphoma, Splenomegaly, Diarrhea, Follicular hyperplasia OMIM:240500
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis OMIM:271500
Hemochromatosis, Type 2B
Hepatomegaly, Hepatic fibrosis, Anemia, Splenomegaly, Cirrhosis, Elevated hepatic transaminase OMIM:613313
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Hepatomegaly, High palate, Macroglossia, Nasogastric tube feeding in infancy, Abnormality of the ... ORPHA:254864
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, El... OMIM:619658
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Vomiting, Hepatic steatosis, Hepatic failure, Pancytopenia OMIM:617872
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Hypochromia, Anemia, Splenomegaly, Poikilocytosis, Decreased mean corpuscular volume OMIM:615234
X-Linked Mandibulofacial Dysostosis
Branchial anomaly, Webbed neck, Abnormality of the pulmonary artery, Pulmonic stenosis ORPHA:1131
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Lymphadenopathy, Splenomegaly, Crohn's disease, Autoimmune thrombocytopenia, Lympho... OMIM:616100
Myelodysplasia, Anemia, Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcy... ORPHA:846
Sandhoff Disease
Hepatomegaly, Splenomegaly ORPHA:796
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Constipation ORPHA:52503
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Glycosylphosphatidylinositol Biosynthesis Defect 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Autoinflammation With Infantile Enterocolitis
Feeding difficulties in infancy, Villous atrophy, Anemia, Splenomegaly, Reduced natural killer ce... OMIM:616050
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Ascites, Lymphadenopathy, Leukopenia, Abdominal distention, Vo... ORPHA:93552
Hereditary Fructose Intolerance
Hepatomegaly, Vomiting, Nausea, Abdominal distention, Diarrhea, Chronic hepatic failure, Abdomina... ORPHA:469
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Feeding difficulties, Splenomegaly, Hepatosplenomegaly, Elevated hepa... OMIM:610333
Combined Oxidative Phosphorylation Deficiency 7
Paralytic ileus OMIM:613559
Thyroid Hypoplasia
Macroglossia, Abdominal distention, Constipation, Jaundice ORPHA:95720
Combined Oxidative Phosphorylation Deficiency 53
Hepatomegaly, Abdominal distention, Hypochromic microcytic anemia OMIM:619423
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Premature Ovarian Failure 8
Ovarian neoplasm, Premature ovarian insufficiency OMIM:615723
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vomiting, Peritonitis, Intestinal obstruction, Orchitis, Diarrhea, Abdominal pain, Constipation ORPHA:32960
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... OMIM:616860
Restrictive Dermopathy
Short umbilical cord, Ascending tubular aorta aneurysm, Premature delivery because of cervical in... ORPHA:1662
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Feeding difficulties in infancy, Portal fibrosis, Abdominal distention, Splenomegaly... ORPHA:3260
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis ORPHA:276413
Vomiting, Pancreatic calcification, Abdominal distention, Abnormality of the lymph nodes, Diarrhe... ORPHA:677
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Chronic diarrhea, Intestinal obstruction OMIM:600802
Cyanosis, Transient Neonatal
Hepatomegaly, Methemoglobinemia, Anemia, Reticulocytosis, Jaundice OMIM:613977
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Splenomegaly, Cirrhosis, Cholestasis, Elevated hepatic transaminase, Biliary cirrho... OMIM:617394
Bannayan-Riley-Ruvalcaba syndrome
High palate, Meningioma, Long penis, Hemangioma, Intussusception, Lipoma, Hamartomatous polyposis... OMIM:153480
Adenocarcinoma Of The Anal Canal
Neoplasm of the lung, Rectal prolapse, Neoplasm of the rectum, Neoplasm of the liver, Intestinal ... ORPHA:424016
Pyloric Stenosis, Infantile Hypertrophic, 1
Pyloric stenosis, Projectile vomiting OMIM:179010
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Gastrointestinal carcinoma, Hepatic arteriovenous malformati... OMIM:175050
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Villous atrophy, Hepatic fibrosis, Cholelithiasis, Splenomegaly, Biliary hyperplasi... ORPHA:567983
Celiac Disease, Susceptibility To, 1
Celiac disease, Stomatitis, Vomiting, Abdominal distention, Lymphoma, Steatorrhea, Elevated hepat... OMIM:212750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Hodgkin lymphoma, Lymphoproliferative disorder, Lymphadenopathy, Lym... OMIM:300853
Cold Agglutinin Disease
Hepatomegaly, Nausea and vomiting, Lymphadenopathy, Splenomegaly, Diarrhea, Hemolytic anemia ORPHA:56425
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Male infertility ORPHA:48
Lymphoproliferative Syndrome 2
Hepatomegaly, Hodgkin lymphoma, Ascites, Lymphoproliferative disorder, Lymphadenopathy, Lymphoma,... OMIM:615122
Alpha-1-Antitrypsin Deficiency
Hepatomegaly, Hepatitis, Hepatic failure, Jaundice ORPHA:60
Cerebral Creatine Deficiency Syndrome 1
Feeding difficulties in infancy, Aganglionic megacolon, Vomiting, Ileus, Constipation OMIM:300352
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Classic Mycosis Fungoides
Hepatomegaly, Neoplasm of the skin, Lymphadenopathy, Abnormal lymphocyte morphology, Lymphoma, Sp... ORPHA:2584
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Anemia, Splenomegaly ORPHA:100024
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Nausea and vomiting, Bloody diarrhea, Anorexia, Bowel urgency, Atypical pulmonary c... ORPHA:100075
Gray Platelet Syndrome
Thrombocytopenia, Myelodysplasia, Splenomegaly ORPHA:721
Acquired Idiopathic Sideroblastic Anemia
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Hepatomegaly, Vomiting, Lymphadenopathy, Abnormality of the liver, Mye... ORPHA:79456
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Bile duct proliferation, Cirrhosis, Elevated ci... OMIM:619662
Coarctation of the descending aortic arch, Neural tube defect, Macroglossia, Arthrogryposis multi... ORPHA:79321
Chronic Granulomatous Disease
Pyloric stenosis, Hepatomegaly, Mediastinal lymphadenopathy, Malabsorption, Splenomegaly, Tracheo... ORPHA:379
Necrotizing Enterocolitis
Leukocytosis, Bloody diarrhea, Neutropenia, Ascites, Peritonitis, Vomiting, Abdominal distention,... ORPHA:391673
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Nausea and vomiting, Anorexia, Neutropenia, Feeding difficulties, Anemia, Pancreati... ORPHA:79312
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic iron concentration, Pe... ORPHA:139507
Kasabach-Merritt Syndrome
Neoplasm of the skin, Neutropenia, Abnormal lymphatic vessel morphology, Leukopenia, Microangiopa... ORPHA:2330
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulo... OMIM:615631
Peroxisome Biogenesis Disorder 13A (Zellweger)
Hepatomegaly, Feeding difficulties, Cholestasis, Jaundice OMIM:614887
Nephronophthisis 19
Hepatomegaly, Hepatic fibrosis, Bile duct proliferation, Splenomegaly, Cholestasis OMIM:616217
Dysostosis Multiplex, Ain-Naz Type
Abdominal distention OMIM:619345
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Myelodysplasia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, H... ORPHA:231401
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
American Trypanosomiasis
Hepatomegaly, Aganglionic megacolon, Lymphadenopathy, Abnormal large intestine physiology, Spleno... ORPHA:3386