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:
CC1,  Min,  adenomatosis polyposis coli

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Gastric Cancer
Stomach cancer OMIM:613659
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina... ORPHA:873
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Osteoma, Intestinal bleeding, Duodenal polyposis, Low posterior hairline, Hepatoblastoma, Iron de... ORPHA:261584
Hepatocellular Carcinoma
Hepatocellular carcinoma OMIM:114550
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Frontal bossing, Malar flattening 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
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 2
Colon cancer OMIM:609310
Familial Adenomatous Polyposis 2
Colon cancer, Adenomatous colonic polyposis OMIM:608456
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2
Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic 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, Colorectal polyposis, Colon cancer, Breast carcinoma OMIM:135290
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Hypertriglyceridemia 2
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Gastric Cancer
Stomach cancer OMIM:613659
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Paraganglioma And Gastric Stromal Sarcoma
Paraganglioma, Neoplasm of the gastrointestinal tract OMIM:606864
Pilomatrixoma
Neoplasm of head and neck, Pilomatrixoma ORPHA:91414
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino... OMIM:151623
Hereditary Mixed Polyposis Syndrome
Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, ... ORPHA:157794
Solitary Rectal Ulcer Syndrome
Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi... ORPHA:209964
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:166000
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Peutz-Jeghers Syndrome
Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ... ORPHA:2869
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Pilomatrixoma
Pilomatrixoma OMIM:132600
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Serrated Polyposis Syndrome
Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P... ORPHA:157798
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden... ORPHA:454840
Mismatch Repair Cancer Syndrome 4
Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ... OMIM:619101
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Familial Adenomatous Polyposis 3
Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c... OMIM:616415
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int... ORPHA:44890
Muir-Torre Syndrome
Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor... OMIM:158320
High-Grade Dysplasia In Patients With Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction ORPHA:231080
Juvenile Polyposis Syndrome
Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi... OMIM:174900
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Multiple... ORPHA:220460
Cholangiocarcinoma, Susceptibility To
Cholangiocarcinoma OMIM:615619
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Cowden Syndrome 4
Renal neoplasm, Trichilemmoma, Hamartoma, Breast carcinoma OMIM:615107
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co... OMIM:613244
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424019
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormal gastric mucosa morphology OMIM:175505
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly, Hodgkin lymphoma, Lymphadenopathy, Lymphop... OMIM:618261
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Multiple enchondromatosis, Chondrosarcoma OMIM:614569
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl... OMIM:614480
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena OMIM:619182
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ... OMIM:616829
Congenital Dyserythropoietic Anemia Type Iii
Gingival bleeding, Melena, Increased circulating iron concentration, Increased mean corpuscular v... ORPHA:98870
Hirschsprung Disease
Diarrhea, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, In... ORPHA:388
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen... OMIM:619924
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po... ORPHA:329971
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Diamond-Blackfan Anemia 19
Anemia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618312
Msh3-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po... ORPHA:480536
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia OMIM:615863
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c... OMIM:114500
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Cap Polyposis
Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C... ORPHA:160148
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Desmoid Tumor
Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina... ORPHA:873
Volvulus Of Midgut
Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten... OMIM:193250
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Highly arched eyebrow, Absent nipple, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic ... OMIM:616001
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Hemangioma, Iron deficiency anemia, Thrombocytopenia, Rectal prola... OMIM:112200
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl... ORPHA:251992
Anemia, Sideroblastic, 4
Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts OMIM:182170
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s... ORPHA:2198
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis OMIM:612591
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino... OMIM:619868
Pouchitis
Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A... ORPHA:217067
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Alopecia, Diarrhea, Dystrophic toenail, Sparse body hair, Anorexia, F... ORPHA:2930
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc... OMIM:619398
Vascular Hyalinosis
Protein-losing enteropathy, Hematochezia, Diarrhea, Premature graying of hair, Malabsorption, Sub... OMIM:277175
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Cholesteryl Ester Storage Disease
Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal... ORPHA:75234
Nk-Cell Enteropathy
Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g... ORPHA:263665
Birt-Hogg-Dube Syndrome 1
Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p... OMIM:135150
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos... OMIM:615703
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Familial Hypofibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding ORPHA:98881
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteosarcoma OMIM:601811
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Burkitt Lymphoma
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the spleen, Decreased pr... ORPHA:543
Transient Erythroblastopenia Of Childhood
Anemia, Transient erythroblastopenia OMIM:227050
Acquired Von Willebrand Syndrome
Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic... ORPHA:99147
Oslam Syndrome
Osteosarcoma ORPHA:2760
Infantile Myofibromatosis
Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In... ORPHA:2591
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Hyperlipidemia, Familial Combined, 3
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... OMIM:144250
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic areola, Aplasia/Hypoplasia of the b... OMIM:113700
Gastrointestinal Stromal Tumor
Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia OMIM:606764
Congenital Factor V Deficiency
Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo... ORPHA:326
Ovarian Dysgenesis 2
Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:300510
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Peutz-Jeghers Syndrome
Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t... OMIM:175200
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera... OMIM:603471
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Neuroendocrine Neoplasm Of Appendix
Adenocarcinoma of the colon, Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sou... ORPHA:100079
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Eosinophilic Gastroenteritis
Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino... ORPHA:2070
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia OMIM:613571
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Neuroendocrine Tumor Of Stomach
Protracted diarrhea, Nausea and vomiting, Anorexia, Right ventricular failure, Tricuspid regurgit... ORPHA:100075
Immunodeficiency 112
Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched... OMIM:620449
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Squamous Cell Carcinoma Of The Esophagus
Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting ORPHA:99977
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai... ORPHA:97286
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Immunodeficiency 76
Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, Colitis, T lympho... OMIM:619164
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Diarr... OMIM:175500
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Ring Chromosome Y Syndrome
Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,... ORPHA:261529
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Neuroendocrine Tumor Of The Rectum
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric... ORPHA:100082
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Lipase Deficiency, Combined
Pancreatitis, Hypertriglyceridemia OMIM:246650
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Increased LDL cholesterol concen... OMIM:607616
Gastroesophageal Reflux
Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm OMIM:109350
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni... OMIM:243150
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Reduced natural killer cell count, Perianal abscess, Gastrit... OMIM:618108
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
T lymphocytopenia OMIM:242870
Waardenburg-Shah Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A... ORPHA:897
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c... OMIM:214900
Turcot Syndrome With Polyposis
Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast... ORPHA:99818
Pseudomyxoma Peritonei
Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A... ORPHA:26790
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias OMIM:201710
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyperplasia, Hurthle ... ORPHA:210548
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr... OMIM:605814
Adenocarcinoma Of The Anal Canal
Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl... ORPHA:424016
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function OMIM:601466
Glycogen Storage Disease Ixa1
Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes... OMIM:306000
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri... OMIM:612526
Ménétrier Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c... ORPHA:2494
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Gynecomastia, Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary ameno... OMIM:202110
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Combined Immunodeficiency, X-Linked
Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-... OMIM:312863
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen... ORPHA:206484
Hepatic Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia OMIM:614025
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Craniosynostosis, Aprosencephaly, Micrognathia OMIM:601374
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Neuroendocrine Tumor Of The Colon
Hypotension, Lack of bowel sounds, Right ventricular failure, Protracted diarrhea, Anorexia, Hypo... ORPHA:100080
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Exostoses, Multiple, Type Ii
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133701
Exostoses, Multiple, Type I
Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma OMIM:133700
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production OMIM:153550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... OMIM:205950
Cowden Syndrome 7
Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap... OMIM:616858
Desmoplastic Small Round Cell Tumor
Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Anemia, Abdominal pain, Sa... ORPHA:83469
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Hemophilia A
Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b... OMIM:306700
Juvenile Polyposis Of Infancy
High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage... ORPHA:79076
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
Glanzmann Thrombasthenia
Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi... ORPHA:849
Familial Adenomatous Polyposis 4
Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Breast intraductal papi... OMIM:617100
Adenocarcinoma Of The Esophagus
Barrett esophagus, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy,... ORPHA:99976
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic... ORPHA:209902
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention ORPHA:103910
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Apolipoprotein C-Ii Deficiency
Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci... OMIM:207750
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom... OMIM:619802
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate... OMIM:612964
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T... OMIM:618462
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec... ORPHA:168563
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Malabs... OMIM:226300
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Lynch Syndrome
Neoplasm of the skin, Colon cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neoplas... ORPHA:144
Malignant Peritoneal Mesothelioma
Ileus, Neoplasm, Peritonitis, Abdominal distention, Abdominal pain ORPHA:168811
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Lymphopenia, Leukopenia, Naus... ORPHA:319218
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat... ORPHA:464321
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Gynecomastia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen... OMIM:201910
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 15B
Reduced natural killer cell count, Monocytosis OMIM:615592
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper... ORPHA:369
Oncogenic Osteomalacia
Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon... ORPHA:352540
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Nep... OMIM:194072
Juvenile Nasopharyngeal Angiofibroma
Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma ORPHA:289596
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Wide intermamillary distance ORPHA:1875
Immunodeficiency 104
Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia OMIM:608971
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Neutropenia... OMIM:603552
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ... ORPHA:209919
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Hemophilia B
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a... OMIM:306900
Hereditary Breast And/Or Ovarian Cancer Syndrome
Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar... ORPHA:145
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hep... OMIM:613812
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ... ORPHA:131
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute... ORPHA:69085
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Volvulus, Microcytic anemia, Gastrointestinal infar... ORPHA:1059
Normosmic Congenital Hypogonadotropic Hypogonadism
Sparse body hair, Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, I... ORPHA:432
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ... OMIM:133180
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat... OMIM:618400
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Juvenile Polyposis Syndrome
Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multip... ORPHA:2929
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae OMIM:618309
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Villous a... OMIM:619510
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Lymphadenopathy, Hepatomegaly, Lymphoproliferati... OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circ... OMIM:300635
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato... OMIM:278000
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn... ORPHA:1414
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Diffuse Gastric And Lobular Breast Cancer Syndrome
Atrophic gastritis, Stomach cancer, Cleft palate OMIM:137215
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Restrictive Dermopathy 2
Gastroesophageal reflux, Rectal prolapse, Feeding difficulties OMIM:619793
Tetraamelia Syndrome 2
Micropenis, Absent nipple OMIM:618021
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa... OMIM:214950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Increased HDL cholesterol concentration, Hypertriglyceridemia ORPHA:140905
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperactive renin-angiotensin system, Failure to thrive, Abnormal circulating androgen level, Inc... ORPHA:90790
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia OMIM:615238
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Sparse hair, Absent nipple, Brittle hair, Absent hair OMIM:614940
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Glanzmann Thrombasthenia 1
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin... OMIM:273800
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo... OMIM:614941
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma OMIM:180200
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th... OMIM:616050
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Hypertriglyceridemia OMIM:613877
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Osteosarcoma, Histiocytoma OMIM:112250
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia ORPHA:280356
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte... ORPHA:906
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Absence of pubertal development, Decreased testicular size, Azoospermia, Gynecomastia, Cryptorchi... OMIM:614837
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin... OMIM:615558
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega... OMIM:613027
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Müllerian Aplasia And Hyperandrogenism
High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa... ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo... OMIM:612965
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ... ORPHA:2924
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w... OMIM:619313
Barrett Esophagus
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration OMIM:614266
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Congenital Factor Xi Deficiency
Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac... ORPHA:329
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos... ORPHA:90038
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro... OMIM:612885
Diamond-Blackfan Anemia
Webbed neck, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence ... ORPHA:124
Isobutyryl-Coa Dehydrogenase Deficiency
Anemia, Decreased circulating carnitine concentration, Dilated cardiomyopathy OMIM:611283
Adult Syndrome
Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Alopecia of scalp, Spa... OMIM:103285
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino... OMIM:606719
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi... ORPHA:79140
Amed Syndrome, Digenic
Failure to thrive, Acute myeloid leukemia, Adrenal hypoplasia, Hypoplasia of the uterus, Myelodys... OMIM:619151
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphoma... ORPHA:276
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Grfoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97261
Satoyoshi Syndrome
Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo... ORPHA:3130
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Ppoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97278
Perrault Syndrome 4
Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ... OMIM:615300
Adult Syndrome
Alopecia, Absent nipple, Fine hair, Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair ORPHA:978
Somatostatinoma
Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct... ORPHA:97283
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Protracted diarrhea, Bloody diarrhea, Congestive heart failure, Leukocytosis, Intestina... ORPHA:67
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr... ORPHA:139507
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Fibrosarcoma, Metrorrhagia, Diffuse leiomyomatos... ORPHA:314478
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept... OMIM:203300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,... ORPHA:2235
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ... ORPHA:523
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Galactorrhea, Amenorrhea, Oligomenorrhea, Female hypogonad... ORPHA:397685
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypogonadism, Hypoplastic nipples, Sparse hair, Hypoplastic areola OMIM:273400
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Hyperlipoproteinemia, Type Id
Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom... OMIM:615947
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
46,Xy Sex Reversal 7
Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon... OMIM:233420
Glycogen Storage Disease Iii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat... OMIM:232400
D-Glyceric Aciduria
Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia ORPHA:941
Zollinger-Ellison Syndrome
Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ... ORPHA:913
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Schopf-Schulz-Passarge Syndrome
Poroma, Apocrine hidrocystoma, Sparse body hair, Small nail, Ridged nail, Nail dystrophy, Narrow ... OMIM:224750
Severe Hemophilia A
Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor... ORPHA:169802
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio... ORPHA:85450
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Prothrombin Deficiency, Congenital
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P... OMIM:613679
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos... OMIM:301000
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract... OMIM:619523
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Hemophilia A
Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem... ORPHA:98878
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Huriez Syndrome
Squamous cell carcinoma of the skin, Small nail, Nail dystrophy OMIM:181600
Ovarian Fibroma
Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ... ORPHA:314473
Carney Triad
Gastrointestinal hemorrhage, Diarrhea, Adrenocortical adenoma, Pheochromocytoma, Nausea and vomit... ORPHA:139411
Cerebellar Ataxia-Hypogonadism Syndrome
Supernumerary nipple, Hypogonadism, Gynecomastia, Decreased fertility, Hypogonadotropic hypogonad... ORPHA:1173
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Maffucci Syndrome
Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A... ORPHA:163634
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Immunodeficiency 109 With Lymphoproliferation
Hodgkin lymphoma, Splenomegaly, Hypertriglyceridemia OMIM:620282
Hypercholesterolemia, Familial, 3
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration OMIM:603776
Congenital Factor X Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h... ORPHA:328
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi... OMIM:615830
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
46,Xy Partial Gonadal Dysgenesis
Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,... ORPHA:251510
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... ORPHA:69663
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in... ORPHA:85446
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva... ORPHA:71212
Tyrosinemia, Type I
Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr... OMIM:276700
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi... ORPHA:90796
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Ectodermal Dysplasia With Adrenal Cyst
Breast hypoplasia, Hypoplastic nipples, Abnormality of the endocrine system OMIM:129550
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Barber-Say Syndrome
Sparse eyebrow, Absent nipple, Hypertrichosis, Cryptorchidism, Inverted nipples, Sparse eyelashes... OMIM:209885
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... OMIM:616000
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop... ORPHA:440437
Glucagonoma
Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int... ORPHA:97280
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Anorexia, Hepatospl... ORPHA:98850
Malignant Atrophic Papulosis
Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage OMIM:602248
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/Hypoplasia of the breasts, Sparse pubic hair, Aplasia/hypoplas... ORPHA:243
Acrorenal-Mandibular Syndrome
Absent nipple, Uterus didelphys, Abnormality of the breast, Unicornuate uterus, Bicornuate uterus OMIM:200980
Alpha-Heavy Chain Disease
Alopecia, Lymphoma, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Abd... ORPHA:100025
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ... ORPHA:3453
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Chronic diarrhea, Eosi... OMIM:304790
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Werner Syndrome
Alopecia of scalp, Meningioma, Osteosarcoma OMIM:277700
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Lactose intolerance, Hemangioma, Protuberant abdomen, Curly hair, Intestinal polyp ORPHA:457485
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating... OMIM:615980
Hemorrhagic Fever-Renal Syndrome
Diarrhea, Hyperphosphatemia, Abdominal pain, Tachycardia, Hyperkalemia, Shock, Elevated circulati... ORPHA:340
Hypercholesterolemia, Familial, 2
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144010
Hyperlipoproteinemia, Type I
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... OMIM:238600
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Spontaneous h... ORPHA:274
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre... ORPHA:403
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster... ORPHA:96181
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti... OMIM:175050
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Colon cancer, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, ... OMIM:608615
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... ORPHA:98826
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, Renal cortical adenoma, Papill... ORPHA:97290
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Immunodeficiency 68
Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Secondary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,... ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 21
Hyperprolinemia, Hyperalaninemia, Hepatic steatosis OMIM:615918
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia ORPHA:79085
Caroli Syndrome
Hepatic failure, Abnormal bleeding, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, ... ORPHA:480520
Multiple Endocrine Neoplasia Type 1
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Shortened QT in... ORPHA:652
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom... ORPHA:252164
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Familial Melanoma
Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm o... ORPHA:618
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Postnatal growth retardation, Lymphopenia, Splenome... OMIM:620603
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper... OMIM:618398
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... ORPHA:766
Trichothiodystrophy 1, Photosensitive
Fine hair, Trichorrhexis nodosa, Tiger tail banding, Malabsorption, Nail dystrophy, Intestinal ob... OMIM:601675
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep... OMIM:619013
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi... ORPHA:790
Hyperinsulinemic Hypoglycemia, Familial, 8
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia OMIM:620211
Mismatch Repair Cancer Syndrome 3
Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi... OMIM:619097
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Becker Nevus Syndrome
Aplasia/Hypoplasia of the breasts, Supernumerary nipple, Abnormal scrotum morphology, Hamartoma, ... ORPHA:64755
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep... ORPHA:99828
Combined Deficiency Of Factor V And Factor Viii
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis... ORPHA:35909
Chronic Intestinal Pseudoobstruction
Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis ORPHA:2978
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t... OMIM:277000
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased... OMIM:300853
Von Willebrand Disease, Type 1
Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged... OMIM:193400
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti... ORPHA:903
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia, Fat malabsorption OMIM:614338
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c... ORPHA:786
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Splenomegaly ORPHA:79301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Intellectual Developmental Disorder, Autosomal Dominant 47
Thin eyebrow, Small for gestational age, Cryptorchidism, Supernumerary nipple OMIM:617635
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Cardiomyopathy, Conges... OMIM:615895
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Vasculitis, Co... OMIM:617718
Waardenburg Syndrome
Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A... ORPHA:3440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Cowden Syndrome 1
Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, L... OMIM:158350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,... OMIM:600802
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Gastrointestinal hemorrhage, Pancytopenia, ... OMIM:617341
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Abnormal circulating lipid concentration OMIM:608709
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic nipples, Hypoplastic female external genitalia, Hypospadias OMIM:177980
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Cowden Syndrome 6
Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, F... OMIM:615109
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Nephroblastoma, Ambiguous genitalia, male, Male pseudohe... ORPHA:347
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H... OMIM:619048
Mandibuloacral Dysplasia
Increased circulating free fatty acid level, Abnormal tongue morphology, Hypercholesterolemia, Hy... ORPHA:2457
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Abnormality of the submandibular glands, Salivary gland neoplasm, Basal ... ORPHA:79493
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Mccune-Albright Syndrome
Hyperparathyroidism, Pituitary adenoma, Increased circulating prolactin concentration, Intestinal... OMIM:174800
Focal Segmental Glomerulosclerosis 1
Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia OMIM:603278
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Bannayan-Riley-Ruvalcaba Syndrome
Abnormal large intestine morphology, Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma... ORPHA:109
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:231393
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Anorexia, Neutrophilia, Abdominal... ORPHA:99827
Ollier Disease
Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma ORPHA:296
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo... OMIM:617872
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Abnormality of the gastrointestinal tract, Elevated circulating hepatic transaminase concentratio... ORPHA:2089
Cowden Syndrome 5
Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O... OMIM:615108
Lynch Syndrome 5
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov... OMIM:614350
Ichthyosis With Confetti
Hypoplastic nipples, Hypertrichosis, Decreased body weight OMIM:609165
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,... OMIM:618528
Dubowitz Syndrome
Anal stenosis, Abnormality of neutrophils, Sparse lateral eyebrow, Lymphoma, Fine hair, Neoplasm,... ORPHA:235
Diamond-Blackfan Anemia 21
Coarse hair, Horizontal eyebrow, Osteosarcoma, Widow's peak, Synophrys OMIM:620072
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
B-cell lymphoma, Burkitt lymphoma, Osteochondroma OMIM:620232
Igg4-Related Aortitis
Abdominal pain, Hypereosinophilia, Intestinal obstruction ORPHA:449400
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated... ORPHA:53693
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Sparse eyelashes, Aplasia/Hypoplastia... OMIM:305100
Cernunnos-Xlf Deficiency