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Gene: Apc MGI:88039

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
APC, WNT signaling pathway regulator
Synonyms:
Min,  CC1,  adenomatosis polyposis coli

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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 Apc 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 Apc by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Gastric Cancer
Stomach cancer OMIM:613659
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Desmoid Tumor
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polypo... ORPHA:873
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
High palate, Adenomatous colonic polyposis, Intestinal bleeding, Hepatoblastoma, Desmoid tumors, ... ORPHA:261584
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Cenani-Lenz Syndrome
Frontal bossing, Malar flattening, Abnormal dental enamel morphology ORPHA:3258

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2
Adenomatous colonic polyposis, Colon cancer, Juvenile colonic polyposis, Hyperplastic colonic pol... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colon cancer, Colorectal polyposis ORPHA:401911
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer, Colorectal polyposis, Breast carcinoma OMIM:135290
Familial Adenomatous Polyposis 4
Papilloma, Thyroid adenoma, Astrocytoma, Stomach cancer OMIM:617100
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... ORPHA:79506
Gastric Cancer
Stomach cancer OMIM:613659
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... OMIM:232700
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Adenomatous colonic polyposis, Colon cancer, Acute myeloid leukemia OMIM:246470
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Solitary Rectal Ulcer Syndrome
Bloody mucoid diarrhea, Bloody diarrhea, Episodic abdominal pain, Abdominal pain, Tenesmus, Sterc... ORPHA:209964
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer... OMIM:151623
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Hereditary Mixed Polyposis Syndrome
Adenomatous colonic polyposis, Neoplasm of the rectum, Thyroid carcinoma, Hyperplastic colonic po... ORPHA:157794
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Trichoepitheliomas, Multiple Desmoplastic
Trichoepithelioma, Neoplasm of the skin OMIM:190345
Peutz-Jeghers Syndrome
Neoplasm of the rectum, Stomach cancer, Neoplasm of the small intestine, Vomiting, Rectal prolaps... ORPHA:2869
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Pilomatrixoma
Pilomatrixoma OMIM:132600
Mismatch Repair Cancer Syndrome 4
Adenomatous colonic polyposis, Non-Hodgkin lymphoma, Colon cancer, Glioblastoma multiforme, Astro... OMIM:619101
Gist-Plus Syndrome
Intestinal polyposis, Intussusception, Gastrointestinal stroma tumor OMIM:175510
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,... ORPHA:454840
Serrated Polyposis Syndrome
Adenomatous colonic polyposis, Hodgkin lymphoma, Ovarian neoplasm, Breast carcinoma, Prostate can... ORPHA:157798
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Immunodeficiency 40
Lymphopenia OMIM:616433
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Ovarian neoplasm, Benign gastrointestinal tract tumors, Brea... OMIM:158320
Gastrointestinal Stromal Tumor
Neoplasm of the colon, Neoplasm of the rectum, Esophageal neoplasm, Constipation, Gastrointestina... ORPHA:44890
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Juvenile Polyposis Syndrome
Multiple gastric polyps, Intussusception, Abdominal pain, Duodenal adenocarcinoma, Diarrhea, Hema... OMIM:174900
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the rectum, Papilloma, Neoplasm of the liver, Intestinal bleeding, Anal canal squamou... ORPHA:424019
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Multipl... ORPHA:220460
Proteasome-Associated Autoinflammatory Syndrome 5
Hypertriglyceridemia, Hepatomegaly, Splenomegaly OMIM:619175
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Cowden Syndrome 4
Trichilemmoma, Breast carcinoma, Hamartoma, Renal neoplasm OMIM:615107
Lymphoproliferative Syndrome 3
Hodgkin lymphoma, Lymphoproliferative disorder, Hepatosplenomegaly, Lymphadenopathy, Reduced natu... OMIM:618261
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Adenomatous colonic polyposis, Hereditary nonpolyposis colorectal carcinoma, Colon cancer, Endome... OMIM:613244
Visceral Myopathy 2
Gastroesophageal reflux, Hiatus hernia, Barrett esophagus, Intestinal malrotation, Necrotizing en... OMIM:619350
Li-Fraumeni Syndrome 2
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Fundic gland polyposis, Melena, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Oslam Syndrome
Osteosarcoma, Neoplasm OMIM:165660
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Immunodeficiency 105
B-cell lymphoma, Lymphopenia, Hepatosplenomegaly, B lymphocytopenia, T lymphocytopenia, Absence o... OMIM:619924
Hirschsprung Disease
Constipation, Abdominal pain, Diarrhea, Intestinal obstruction, Intestinal polyposis, Nausea and ... ORPHA:388
Fish-Eye Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... OMIM:136120
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Hyperbilirubinemia, Post-partum hemorrhage, Anisocytos... ORPHA:98870
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hypercholesterolemia OMIM:615863
Diamond-Blackfan Anemia 19
Steroid-responsive anemia, Anemia, Erythroid hypoplasia OMIM:618312
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Adenomatous colonic polyposis, Small intestinal polyposis, Multiple gastric polyps, Abnormal blee... ORPHA:329971
Desmoid Tumor
Malabsorption, Abdominal pain, Desmoid tumors, Intestinal obstruction, Fibroma, Intestinal polypo... ORPHA:873
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Msh3-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Neoplasm of the rectum, Multiple gastric polyps, Stomac... ORPHA:480536
Cap Polyposis
Constipation, Abdominal distention, Abdominal pain, Diarrhea, Hematochezia, Colorectal polyposis,... ORPHA:160148
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Volvulus Of Midgut
Abdominal distention, Constipation, Neonatal intestinal obstruction, Intestinal malrotation, Volv... OMIM:193250
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Uterine leiomyosarcoma, Renal cell carcinoma, Neopl... OMIM:114500
Immunodeficiency 18
Recurrent gastroenteritis, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Blue Rubber Bleb Nevus
Intestinal bleeding, Intussusception, Hemangioma, Iron deficiency anemia, Rectal prolapse, Cerebe... OMIM:112200
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Absent nipple, Male urethral meatus stenosis, Hypoplastic areola, Hypoplastic nipples, Cryptorchi... OMIM:616001
Citrullinemia, Type Ii, Neonatal-Onset
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... OMIM:605814
Anemia, Sideroblastic, 4
Refractory anemia with ringed sideroblasts, Sideroblastic anemia, Abnormal erythrocyte morphology OMIM:182170
Ganglioneuroma
Episodic abdominal pain, Neoplasm of the adrenal gland, Multiple intestinal neurofibromatosis, Ab... ORPHA:251992
Cronkhite-Canada Syndrome
Malabsorption, Neoplasm, Patchy alopecia, Stomach cancer, Splenomegaly, Alopecia, Sparse body hai... ORPHA:2930
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Vascular Hyalinosis
Malabsorption, Diarrhea, Subarachnoid hemorrhage, Hematochezia, Protein-losing enteropathy, Prema... OMIM:277175
Inflammatory Bowel Disease 11
Diarrhea, Abdominal pain, Inflammation of the large intestine, Hematochezia OMIM:191390
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cholesteryl Ester Storage Disease
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Esophageal varix, H... ORPHA:75234
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Gastroesophageal reflux, Poor suck, Abnormal esophagus physiology, Dysphagia... ORPHA:2198
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative ... OMIM:619398
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Cholestasis-Lymphedema Syndrome
Malabsorption, Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transamina... OMIM:214900
Nk-Cell Enteropathy
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Constipation, Abdominal pain, Intest... ORPHA:263665
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Large intestinal polyposis, Multiple lipomas, Renal cell carcin... OMIM:135150
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:610947
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Familial Hypofibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gastrointestinal hemorrhage, Gingival bleeding, Epistaxis ORPHA:98881
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:615703
Giant platelet syndrome with thrombocytopenia
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... OMIM:137560
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Multiple myeloma, Hemophagocytosis, T-cell lymphoma, Pancytopenia, Burkitt lymphoma, Splenomegaly... ORPHA:158057
Inflammatory Bowel Disease (Crohn Disease) 1
Crohn's disease, Abdominal pain, Diarrhea, Inflammation of the large intestine, Intestinal obstru... OMIM:266600
Premature Aging Syndrome, Okamoto Type
Osteosarcoma, Neoplasm, Abnormal hair morphology OMIM:601811
Immunodeficiency 8
Lymphopenia OMIM:615401
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Acquired Von Willebrand Syndrome
Joint hemorrhage, Melena, Aortic valve stenosis, Persistent bleeding after trauma, Subcutaneous h... ORPHA:99147
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Infantile Myofibromatosis
Neoplasm of the pancreas, Abnormal hair morphology, Tracheoesophageal fistula, Neoplasm of the lu... ORPHA:2591
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Absent nipple, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic ... OMIM:113700
Enterocolitis
Abdominal distention, Hematochezia, Enterocolitis, Ulcerative colitis OMIM:226150
Oslam Syndrome
Osteosarcoma ORPHA:2760
Burkitt Lymphoma
Abdominal pain, Abnormality of the spleen, Intestinal obstruction, Neoplasm of the oral cavity, D... ORPHA:543
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Increa... OMIM:619868
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Hyperlipidemia, Familial Combined, 3
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... OMIM:144250
Gastrointestinal Stromal Tumor
Constipation, Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibromas, Dysphagia OMIM:606764
Congenital Factor V Deficiency
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Br... ORPHA:326
Carney-Stratakis Syndrome
Abdominal pain, Gastrointestinal stroma tumor, Paraganglioma, Intestinal obstruction, Dysphagia, ... ORPHA:97286
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Eosinophilic Gastroenteritis
Malabsorption, Leukocytosis, Steatorrhea, Abdominal pain, Eosinophilia, Diarrhea, Abnormality of ... ORPHA:2070
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bloody diarrhea, Intestinal bleeding, Uterine neoplasm, Multiple gastri... OMIM:175200
Epidermodysplasia Verruciformis, Susceptibility To, 2
Squamous cell carcinoma of the skin, Verruca plana OMIM:618231
Inflammatory Bowel Disease 28, Autosomal Recessive
Crohn's disease, Colitis, Enterocolitis, Hematochezia, Perianal abscess OMIM:613148
Ovarian Dysgenesis 2
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... OMIM:300510
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lympha... OMIM:619164
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Increased circulating ACTH level, Ambiguous genitalia, Congenital adrenal hyperplasia OMIM:613571
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Malabsorption, Abdominal pain, Alopecia, Anorexia, Xerostomia, Diarrhea, Vomiting, Hematochezia, ... OMIM:175500
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Intracranial hemorrha... ORPHA:853
Familial Adenomatous Polyposis
Cholangiocarcinoma, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma, Lipoma, Multi... ORPHA:733
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Ovarian neoplasm, Constipation, Episodic abdominal pain, Hypoactive bowel sounds, ... ORPHA:100079
Osteogenic Sarcoma
Osteosarcoma, Retinoblastoma OMIM:259500
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, E... OMIM:603471
Angioma, Hereditary Neurocutaneous
Hemangioma, Gastrointestinal hemorrhage OMIM:106070
Adenocarcinoma Of The Anal Canal
Neoplasm of the rectum, Neoplasm of the liver, Intestinal bleeding, Abdominal pain, Anal canal ad... ORPHA:424016
Neuroendocrine Tumor Of Stomach
Melena, Bowel urgency, Hepatic failure, Facial telangiectasia, Poor appetite, Atypical pulmonary ... ORPHA:100075
Hemophagocytic Lymphohistiocytosis, Familial, 3
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia OMIM:608898
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Prolonged bleeding af... OMIM:231200
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Ring Chromosome Y Syndrome
Ambiguous genitalia, female, Female infertility, Streak ovary, Abnormality of the male genitalia,... ORPHA:261529
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... OMIM:306000
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Neuroendocrine Tumor Of The Rectum
Melena, Atypical pulmonary carcinoid tumor, Bowel urgency, Hepatomegaly, Constipation, Bloody dia... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Melena, Atypical pulmonary carcinoid tumor, Bowel urgency, Hepatomegaly, Constipation, Bloody dia... ORPHA:100082
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Duodenal atresia, Bloody diarrhea, Lymphopenia, Intestinal atresia, Enterocolitis, Leukocytosis, ... OMIM:243150
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Blind vagina, Ovarian cyst, Decreased circulating cortisol level, Primary amenorrhea, Abnormal re... ORPHA:90793
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Constipation, Abdominal pain, Hypopigment... ORPHA:897
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, Shor... OMIM:607616
Turcot Syndrome With Polyposis
Hepatoblastoma, Soft tissue neoplasm, Basal cell carcinoma, Intestinal polyposis, Cerebellar medu... ORPHA:99818
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Mismatch Repair Cancer Syndrome 2
T-cell acute lymphoblastic leukemias, Colon cancer, Glioblastoma multiforme OMIM:619096
Immunodeficiency 57 With Autoinflammation
Gastritis, B lymphocytopenia, Inflammation of the large intestine, T lymphocytopenia, Perianal ab... OMIM:618108
Pseudomyxoma Peritonei
Constipation, Abdominal pain, Inflammation of the large intestine, Intestinal obstruction, Nausea... ORPHA:26790
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, T lymphocytopenia OMIM:233650
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... OMIM:612526
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Epidermodysplasia Verruciformis, X-Linked
Squamous cell carcinoma of the skin, Verrucae OMIM:305350
Tumor Predisposition Syndrome 2
Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me... OMIM:619975
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... OMIM:610717
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Ménétrier Disease
Abnormal gastric mucosa morphology, Gastroesophageal reflux, Multiple gastric polyps, Abdominal p... ORPHA:2494
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Wide intermamillary distance, Abnormality of the ovary, Decreased testicular size, Hypogonadism ORPHA:1875
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Gynecomastia, Primary amenorrhea, Adrenal hyperplasia, Ambiguous geni... OMIM:202110
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Nausea and vomiting, Esophageal carcinoma ORPHA:99977
Gastroesophageal Reflux
Esophagitis, Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus OMIM:109350
Chromosome 5Q Deletion Syndrome
Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia OMIM:153550
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Radiation Proctitis
Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, Abnormal rectum morpholo... ORPHA:70475
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Bruising susceptibility, Abnormal bleeding, Intracranial he... OMIM:173470
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Schopf-Schulz-Passarge Syndrome
Sparse hair, Onycholysis, Squamous cell carcinoma, Basal cell carcinoma, Poroma, Ridged nail, Apo... OMIM:224750
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Gonadoblastoma
Ovarian gonadoblastoma, Increased serum testosterone level, Hirsutism, Gonadal dysgenesis with fe... ORPHA:206484
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... OMIM:616516
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Small for gestational age... ORPHA:1916
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Primary amenorrhea, Delayed puberty OMIM:618117
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Gingival bleeding, Purpura, Gastrointest... ORPHA:3002
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Carcinoma Of Esophagus
Esophageal neoplasm, Gastroesophageal reflux, Barrett esophagus, Dysphagia, Abnormal intestine mo... ORPHA:70482
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... OMIM:205950
Aprosencephaly And Cerebellar Dysgenesis
Micrognathia, Aprosencephaly, Absent mesencephalon, Craniosynostosis OMIM:601374
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... OMIM:616828
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... OMIM:301082
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Cowden Syndrome 7
Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p... OMIM:616858
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... ORPHA:100076
Apolipoprotein C-Ii Deficiency
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... OMIM:207750
Exostoses, Multiple, Type Ii
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Scapular exostoses, Multiple exostoses, Rib exostoses, Pelvic bone exostoses OMIM:133700
Juvenile Polyposis Of Infancy
Adenomatous colonic polyposis, Melena, Intestinal bleeding, High, narrow palate, Intussusception,... ORPHA:79076
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primary amenor... OMIM:614837
Neuroendocrine Tumor Of The Colon
Melena, Atypical pulmonary carcinoid tumor, Bowel urgency, Bloody diarrhea, Tricuspid regurgitati... ORPHA:100080
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Ileus, Ovarian neoplasm, Abdominal distention, Abdominal pain, Neoplasm... ORPHA:83469
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Neoplasm of the liver, Salivary gland neoplasm, Renal neopla... ORPHA:587
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619665
Lynch Syndrome
Neoplasm of the rectum, Neoplasm of the pancreas, Malabsorption, Pituitary adenoma, Ovarian neopl... ORPHA:144
Hepatic Adenomas, Familial
Polycystic ovaries, Maturity-onset diabetes of the young, Hepatocellular adenoma OMIM:142330
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Protein-losing enteropathy, Hematochezia ORPHA:103910
Glanzmann Thrombasthenia
Prolonged bleeding following circumcision, Bruising susceptibility, Menorrhagia, Prolonged bleedi... ORPHA:849
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi... OMIM:614841
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... OMIM:617565
Immunodeficiency 97 With Autoinflammation
Colitis, Lymphopenia, Enterocolitis, Hemophagocytosis, Splenomegaly, Decreased proportion of CD8-... OMIM:619802
Premature Ovarian Failure 7
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Abs... OMIM:612964
Patent Ductus Venosus
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia OMIM:601466
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... ORPHA:168563
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... OMIM:619662
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Gynecomastia, Adrenogenital syndrome OMIM:201910
Malignant Peritoneal Mesothelioma
Ileus, Neoplasm, Abdominal distention, Abdominal pain, Peritonitis ORPHA:168811
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin ORPHA:231249
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Budd-Chiari Syndrome
Malabsorption, Abdominal pain, Splenomegaly, Acute hepatic failure, Peritonitis, Intestinal obstr... ORPHA:131
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... OMIM:603552
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Alopecia, Streak ovary OMIM:241090
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... OMIM:619203
Ebola Hemorrhagic Fever
Melena, Lymphopenia, Abdominal pain, Abnormal bleeding, Leukopenia, Diarrhea, Vomiting, Nausea, D... ORPHA:319218
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Oncogenic Osteomalacia
Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the... ORPHA:352540
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Hereditary Breast And Ovarian Cancer Syndrome
Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Abnormal... ORPHA:145
Immunodeficiency 104
Hepatomegaly, Gastroesophageal reflux, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,... OMIM:194072
46,Xx Testicular Disorder Of Sex Development
Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size ORPHA:393
Premature Ovarian Failure 6
Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm... OMIM:612310
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hepatomegaly OMIM:615924
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Melena, Bloody diarrhea, Vitreous hemorrhage, Hematemesis, Hyperbilirubinemia, Morphological abno... ORPHA:464321
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Microcytic anemia, Gastrointestinal infarctions, Ca... ORPHA:1059
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, Hepatocellular carci... ORPHA:369
Premature Ovarian Failure 5
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... OMIM:611548
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent nipple, Absent hair, Sparse hair OMIM:614940
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Budd-Chiari syndrome, Abdominal pain, Diarrhea, Pulmonary embolism, Vomiting, Iron... OMIM:226300
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae, Lymphopenia, T lymphocytopenia OMIM:618309
Limb-Mammary Syndrome
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Primary amenorrhea, Hypopla... ORPHA:69085
Focal Segmental Glomerulosclerosis 1
Hypertension, Anemia, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Immunodeficiency 85 And Autoimmunity
Lymphopenia, T lymphocytopenia, Villous atrophy, Decreased proportion of CD4-positive helper T ce... OMIM:619510
Adenocarcinoma Of The Esophagus
Gastroesophageal reflux, Barrett esophagus, Esophageal carcinoma, Feeding difficulties in infancy... ORPHA:99976
Erythroleukemia, Familial, Susceptibility To
Splenomegaly, Thrombocytopenia, Anemia, Refractory anemia with ringed sideroblasts, Leukemia, Acu... OMIM:133180
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Colitis, Hepatomegaly, Hemophagocytosis, Splenomega... OMIM:300635
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... ORPHA:1414
Ovarian Dysgenesis 10
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... OMIM:619834
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... ORPHA:90791
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphoproliferative disorder, Lymphadenopathy, Reduced natural killer... OMIM:609981
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Normosmic Congenital Hypogonadotropic Hypogonadism
Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ... ORPHA:432
Premature Ovarian Failure 8
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:615723
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Lymphoma, Osteosarcoma, Leukemia, Pinealoma OMIM:180200
Juvenile Polyposis Syndrome
Small intestinal polyposis, Stomach cancer, Neoplasm of the small intestine, Diarrhea, Hematochez... ORPHA:2929
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly OMIM:615238
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased serum testosterone level, Decreased circulating aldosterone level, Hypoplasia of the ut... OMIM:202010
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Autoinflammation With Infantile Enterocolitis
Enterocolitis, Splenomegaly, Villous atrophy, Pancytopenia, Anemia, Thrombocytopenia, Reduced nat... OMIM:616050
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hypobetalipoproteinemia, Familial, 1
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... OMIM:615558
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... OMIM:614941
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Glanzmann Thrombasthenia 1
Subdural hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Excessive bleeding from su... OMIM:273800
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Osteosarcoma, Fibrosarcoma, Premature graying of hair OMIM:112250
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Breast carcinoma, Decreased circulating ... ORPHA:90790
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis ORPHA:280356
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Glycogen Storage Disease Ixc
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... OMIM:613027
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Cleft palate, Stomach cancer OMIM:137215
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Grfoma
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97261
Wiskott-Aldrich Syndrome
Sudden cardiac death, Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent int... ORPHA:906
46,Xy Sex Reversal 3
Sex reversal, Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Gonadal d... OMIM:612965
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Hyperlysinemia, Type I
Anemia, Hyperlysinemia OMIM:238700
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Bloody diarrhea, Intussusception, Leukocytosis, Abdominal pain, Peritonitis, Retic... ORPHA:90038
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Thick e... ORPHA:247768
Ppoma
Cholelithiasis, Constipation, Adrenocortical adenoma, Intestinal carcinoid, Neoplasm of the small... ORPHA:97278
Isolated Polycystic Liver Disease
Abdominal distention, Gastroesophageal reflux, Abdominal pain, Feeding difficulties in infancy, G... ORPHA:2924
Somatostatinoma
Medullary thyroid carcinoma, Constipation, Steatorrhea, Adrenocortical adenoma, Neoplasm of the s... ORPHA:97283
Congenital Factor Xi Deficiency
Joint hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extraction, Menorrhagia, Gas... ORPHA:329
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hypertriglyceridemia, Hepatic failure OMIM:177000
Melanoma-Pancreatic Cancer Syndrome
Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel... OMIM:606719
Premature Ovarian Failure 13
Amenorrhea, Hypoplasia of the uterus, Female infertility, Oligomenorrhea, Elevated circulating fo... OMIM:617442
Adult Syndrome
Absent nipple, Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, ... OMIM:103285
Blackfan-Diamond Anemia
High palate, Malignant genitourinary tract tumor, Increased mean corpuscular volume, Neutropenia,... ORPHA:124
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Colitis, Hemophagocytosis, Splenomegaly, Hepatosple... OMIM:613101
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Lymphoid leukemia, Basal cell carcinoma, Neoplasm of the outer... ORPHA:79140
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Premature Ovarian Failure 10
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... OMIM:612885
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Lymphopenia, Hepatomegaly, Jaundice, Abnormally low T cell... ORPHA:276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Hepatomegaly ORPHA:79085
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly ORPHA:79301
Amed Syndrome, Digenic
Failure to thrive, Hypoplasia of the uterus, Adrenal hypoplasia, Myelodysplasia, Acute myeloid le... OMIM:619151
46,Xy Sex Reversal 7
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... OMIM:233420
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis ORPHA:209919
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Anemia, Dilated cardiomyopathy OMIM:611283
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... OMIM:206000
Zollinger-Ellison Syndrome
Pituitary growth hormone cell adenoma, Adrenocortical adenoma, Neuroendocrine neoplasm, Diarrhea,... ORPHA:913
Hyperlipoproteinemia, Type Id
Colitis, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholestero... OMIM:615947
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Adult Syndrome
Absent nipple, Sparse scalp hair, Alopecia, Hypoplastic nipples, Breast hypoplasia, Fine hair ORPHA:978
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio... OMIM:619313
Satoyoshi Syndrome
Amenorrhea, Alopecia universalis, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypop... ORPHA:3130
Parenteral Nutrition-Associated Cholestasis
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... ORPHA:567983
Ovarian Fibrothecoma
Increased serum testosterone level, Diffuse leiomyomatosis, Hirsutism, Fibrosarcoma, Abnormal end... ORPHA:314478
Congenital Factor Vii Deficiency
Joint hemorrhage, Post-partum hemorrhage, Bruising susceptibility, Intracranial hemorrhage, Menor... ORPHA:327
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Bloody diarrhea, Leukocytosis, Abdominal pain, Diarrhea, Constrictive pericarditis... ORPHA:67
Tumor Predisposition Syndrome 1
Lung adenocarcinoma, Cutaneous melanoma, Malignant mesothelioma, Renal cell carcinoma, Uveal mela... OMIM:614327
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Hermansky-Pudlak Syndrome 1
Colitis, Bruising susceptibility, Abdominal pain, Hypopigmentation of hair, Inflammation of the l... OMIM:203300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... ORPHA:2235
Perrault Syndrome 4
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Primary amenorrhea, Oligome... OMIM:615300
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Verrucae, Lymphopenia, Neutropenia OMIM:614868
Familial Hyperprolactinemia
Amenorrhea, Infertility, Galactorrhea, Hemorrhagic ovarian cyst, Oligomenorrhea, Menorrhagia, Fem... ORPHA:397685
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Hyperlipoproteinemia, Type I
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... OMIM:238600
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:232400
Maffucci Syndrome
Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost... ORPHA:163634
Immunodeficiency 61
Malabsorption, Colon cancer, Frequent Giardia lamblia infestation OMIM:300310
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Micropenis, Male pseudohermaphroditism, Hypospadias, Absent scrotum, Adrenal hyper... OMIM:201810
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma OMIM:614350
Acth-Independent Macronodular Adrenal Hyperplasia
Neoplasm, Increased circulating cortisol level, Truncal obesity, Adrenal hyperplasia, Primary hyp... OMIM:219080
Wiskott-Aldrich Syndrome
Melena, Lymphoproliferative disorder, Diarrhea, Decreased mean platelet volume, Large vessel vasc... OMIM:301000
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic areola, Hypogonadism, Sparse hair, Hypoplastic nipples OMIM:273400
Hyperimmunoglobulinemia D With Periodic Fever
Abdominal pain, Peritonitis, Diarrhea, Vasculitis, Intestinal obstruction, Purpura, Recurrent aph... ORPHA:343
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia, Reduced hematocrit, Anemia, Refract... OMIM:619523
Hemochromatosis Type 4
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... ORPHA:139491
Bleeding Disorder, Platelet-Type, 17
Petechiae, Absence of alpha granules, Bruising susceptibility, Abnormal bleeding, Prolonged bleed... OMIM:187900
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Abnormal cardiovascular sys... ORPHA:774
Prothrombin Deficiency, Congenital
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... OMIM:613679
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Severe Hemophilia A
Joint hemorrhage, Prolonged bleeding following circumcision, Persistent bleeding after trauma, Su... ORPHA:169802
Hereditary Amyloidosis With Primary Renal Involvement
Dyspepsia, Decreased liver function, Petechiae, Gastroesophageal reflux, Abdominal pain, Anemia, ... ORPHA:85450
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,... ORPHA:314473
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail OMIM:181600
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... OMIM:617156
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Carney Triad
Abdominal pain, Gastrointestinal stroma tumor, Adrenocortical adenoma, Anorexia, Pheochromocytoma... ORPHA:139411
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Myelodys... OMIM:614172
Aggressive Systemic Mastocytosis
Abdominal cramps, Decreased liver function, Malabsorption, Neutropenia, Abnormal mast cell morpho... ORPHA:98850
Glucagonoma
Constipation, Steatorrhea, Adrenocortical adenoma, Diarrhea, Increased circulating prolactin conc... ORPHA:97280
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... OMIM:618841
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome OMIM:103900
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:66628
Congenital Factor X Deficiency
Joint hemorrhage, Hemoperitoneum, Abnormal umbilical stump bleeding, Bruising susceptibility, Pos... ORPHA:328
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... OMIM:615513
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Retinal telangiectasia, Esophageal varix, Portal hypertension, Pancytopenia, Gastrointestinal hem... OMIM:617341
Barrett Esophagus
Esophageal ulceration, Gastroesophageal reflux, Esophageal carcinoma, Barrett esophagus OMIM:614266
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... ORPHA:1173
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Hemophilia A
Joint hemorrhage, Bleeding with minor or no trauma, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Dysphagia, Intestinal pseudo-obstruction, Gastrointestinal hemorrhage, ... ORPHA:85446
Hereditary Leiomyomatosis And Renal Cell Cancer
Esophageal neoplasm, Uterine leiomyoma, Barrett esophagus, Multiple cutaneous leiomyomas, Uterine... ORPHA:523
D-Glyceric Aciduria
Nonketotic hyperglycinemia, Hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp... ORPHA:90796
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Hemangioma, Intestinal polyp, Protuberant abdomen, Cryptorchidism, Curly hair, Lactose intolerance ORPHA:457485
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort... OMIM:615830
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pi... ORPHA:189439
Hemophilia A With Vascular Abnormality
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hem... OMIM:306800
Ectodermal Dysplasia With Adrenal Cyst
Abnormality of the endocrine system, Breast hypoplasia, Hypoplastic nipples OMIM:129550
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Uterine Anomalies
Abnormality of the uterus, Bicornuate uterus OMIM:192000
Barber-Say Syndrome
Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey... OMIM:209885
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad... ORPHA:179494
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Constrictive pericarditis OMIM:602248
Tyrosinemia, Type I
Paralytic ileus, Melena, Hypophosphatemic rickets, Splenomegaly, Elevated alpha-fetoprotein, Hepa... OMIM:276700
Familial Colorectal Cancer Type X
Neoplasm of the rectum, Neoplasm of the colon, Malabsorption, Neoplasm of the pancreas, Neuroblas... ORPHA:440437
Analbuminemia
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... OMIM:616000
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Acrorenal-Mandibular Syndrome
Absent nipple, Bicornuate uterus, Uterus didelphys, Unicornuate uterus, Abnormality of the breast OMIM:200980
Hemophilia B
Joint hemorrhage, Gastrointestinal hemorrhage, Abnormal bleeding, Persistent bleeding after trauma OMIM:306900
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acetylcarnitine concentration, Acute hepatic failure, Hyperammonemia, Increa... ORPHA:71212
Mismatch Repair Cancer Syndrome 3
Neoplasm of the rectum, Lymphoma, Lisch nodules, Colon cancer, T-cell lymphoma, Glioblastoma mult... OMIM:619097
Hemorrhagic Fever-Renal Syndrome
Melena, Diarrhea, Vomiting, Elevated circulating creatinine concentration, Palpitations, Tachycar... ORPHA:340
46,Xx Gonadal Dysgenesis
Aplasia/Hypoplasia of the breasts, Streak ovary, Primary amenorrhea, Aplasia/hypoplasia of the ut... ORPHA:243
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Trichothiodystrophy 1, Photosensitive
Pili torti, Malabsorption, Sparse hair, Brittle hair, Tiger tail banding, Trichorrhexis nodosa, T... OMIM:601675
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:435651
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... ORPHA:3453
Refractory Anemia
Anemia of inadequate production, Single lineage myelodysplasia, Abnormal bleeding, Normocytic ane... ORPHA:98826
Estrogen Resistance Syndrome
Hyperinsulinemia, Hypoplasia of the uterus, Absence of pubertal development, Primary amenorrhea, ... ORPHA:785
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal c... OMIM:615980
Alpha-Heavy Chain Disease
Malabsorption, Abdominal pain, Splenomegaly, Alopecia, Lymphoma, Abnormality of the small intesti... ORPHA:100025
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperlipidemia OMIM:617885
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Secondary Intestinal Lymphangiectasia
Malabsorption, Intestinal bleeding, B-cell lymphoma, Lymphopenia, Intussusception, Vomiting, Lymp... ORPHA:90363
Oligodontia-Colorectal Cancer Syndrome
Adenomatous colonic polyposis, Sparse scalp hair, Fundic gland polyposis, Absent eyebrow, Breast ... OMIM:608615
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Coombs-positive hemolytic anemia, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Vil... OMIM:304790
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... ORPHA:983
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Werner Syndrome
Osteosarcoma, Meningioma, Alopecia of scalp OMIM:277700
Multiple Endocrine Neoplasia Type 1
Pituitary growth hormone cell adenoma, Thymoma, Melena, Constipation, Intestinal carcinoid, Diarr... ORPHA:652
Retinoblastoma
Ewing sarcoma, Retinoblastoma, Glioma, Melanoma, Rhabdomyosarcoma, Lymphoma, Osteosarcoma, Leiomy... ORPHA:790
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Dysmenorrhea, Metrorrhagia, Uterus didelphys, Abnormal uterine cervix morphology, Pa... ORPHA:3411
Caroli Syndrome
Melena, Cholangiocarcinoma, Hematemesis, Leukocytosis, Hyperbilirubinemia, Hepatic failure, Abdom... ORPHA:480520
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Labial hypoplasia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distich... OMIM:211370
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... ORPHA:247585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... ORPHA:766
Ollier Disease
Chondrosarcoma, Neoplasm, Lymphangioma, Hemangioma, Multiple enchondromatosis, Sarcoma, Visceral ... ORPHA:296
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia, Clitoral hy... ORPHA:96181
Becker Nevus Syndrome
Supernumerary nipple, Aplasia/Hypoplasia of the breasts, Hamartoma, Hypoplastic labia minora, Abn... ORPHA:64755
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Leydig Cell Hypoplasia
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... ORPHA:755
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Dengue Fever
Petechiae, Cerebral hemorrhage, Bruising susceptibility, Abdominal pain, Leukopenia, Diarrhea, Hy... ORPHA:99828
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Fine hair, Ungual fibroma ORPHA:1433
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Telangiectasia, Mitral regurgitation, Juvenile gastrointestinal polyposis, Hematochezia, Anemia, ... OMIM:175050
Combined Deficiency Of Factor V And Factor Viii
Joint hemorrhage, Prolonged bleeding following circumcision, Bruising susceptibility, Bleeding wi... ORPHA:35909
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Abnormality of the endocrine system, Hirsutism, Aplasia/Hypoplasia of the fallopian t... OMIM:158330
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lipodystrophy, Familial Partial, Type 1
Acute pancreatitis, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Waardenburg Syndrome
Abnormal eyebrow morphology, Aplasia/Hypoplasia of the colon, Hypopigmentation of hair, Abnormali... ORPHA:3440
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Menorrhagia, Macrothrombocytopenia, Spontaneous hematomas, Anemia, Epistaxis OMIM:616176
Bernard-Soulier Syndrome
Petechiae, Hematemesis, Bruising susceptibility, Prolonged bleeding after dental extraction, Abno... ORPHA:274
Acute Erythroid Leukemia
Leukopenia, Erythroid hypoplasia, Pancytopenia, Anemia, Refractory anemia with ringed sideroblasts ORPHA:318
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Hematocolpos, Uterus didelphys, Partial vaginal septum OMIM:192050
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Lymphopenia, Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Intestina... OMIM:600802
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Von Willebrand Disease, Type 1
Joint hemorrhage, Aortic valve stenosis, Persistent bleeding after trauma, Bruising susceptibilit... OMIM:193400
Temple Syndrome
High palate, Cleft palate, Bifid uvula, Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Leukocytosis, Splenomegaly, Abdominal pain, Inflammation of the large intestine, Hematochezia, Di... OMIM:615895
Frasier Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... ORPHA:347
Tylosis With Esophageal Cancer
Neoplasm, Esophageal carcinoma OMIM:148500
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Breast carcinoma, Renal cortical adenoma, Papillary thyroid carcinoma, Papillary renal cell carci... ORPHA:97290
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Cryptorchidism, Supernumerary nipple, Small for gestational age OMIM:617635
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Macroglossia, T lymphocytopenia, Protruding tongue, Reduced natural killer cell count OMIM:242860
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... OMIM:255120
Familial Melanoma
Neoplasm of the pancreas, Melanoma, Neoplasm of the breast, Neoplasm of the stomach, Abnormal hai... ORPHA:618
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
B-cell lymphoma, Hodgkin lymphoma, Splenomegaly, Lymphoproliferative disorder, Autoimmune thrombo... OMIM:300853
Crimean-Congo Hemorrhagic Fever
Melena, Hemoperitoneum, Neutrophilia, Subdural hemorrhage, Hepatic failure, Hemothorax, Diarrhea,... ORPHA:99827
Reticular Dysgenesis
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis OMIM:267500
Benign Schwannoma
Vestibular schwannoma, Abnormal esophagus morphology, Intestinal polyposis, Scleral schwannoma, S... ORPHA:252164
Mandibuloacral Dysplasia
High palate, Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterole... ORPHA:2457
Generalized Glucocorticoid Resistance Syndrome
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... ORPHA:786
Mccune-Albright Syndrome
Pituitary adenoma, Elevated circulating growth hormone concentration, Increased circulating prola... OMIM:174800
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Dubowitz Syndrome
High palate, Hypoparathyroidism, Malabsorption, Neoplasm, Sparse scalp hair, Low anterior hairlin... ORPHA:235
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
46,Xy Sex Reversal 11
Urogenital sinus anomaly, Decreased serum testosterone concentration, Gonadal dysgenesis with fem... OMIM:273250
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, Increased proport... ORPHA:2442
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia ORPHA:231393
Cowden Syndrome 1
Hydrocele testis, High palate, Lymphopenia, Breast carcinoma, Fibroadenoma of the breast, Ovarian... OMIM:158350
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Myelodysplasia, Neutropenia, Anemia, Thrombocyto... OMIM:619041
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm, Abnormal large intestine morphology, Narrow palate, Lipoma, Thyroid carcinoma, Uterine ... ORPHA:109
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrauterine growth retardation, Elevated hepatic transaminase, Postnat... OMIM:617093
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endometrial carcinoma OMIM:614337
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619048
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Cowden Syndrome 6
Hydrocele testis, High palate, Breast carcinoma, Fibroadenoma of the breast, Ovarian cyst, Furrow... OMIM:615109
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Eosinophilia, Squamous cell carcinoma, Decreased prop... OMIM:243700
Brooke-Spiegler Syndrome
Salivary gland neoplasm, Skin appendage neoplasm, Abnormality of the sublingual glands, Multiple ... ORPHA:79493
Estrogen Resistance
Hyperinsulinemia, Hypoplasia of the uterus, Primary amenorrhea OMIM:615363
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... ORPHA:754
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbuminemia, Hepatic... OMIM:619013
Lung Cancer
Lung adenocarcinoma, Non-small cell lung carcinoma, Alveolar cell carcinoma OMIM:211980
46,Xy Complete Gonadal Dysgenesis
Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis, Hypogonadotropic hypogonadism ORPHA:242
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Ichthyosis With Confetti
Hypertrichosis, Decreased body weight, Hypoplastic nipples OMIM:609165