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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:
CC1,  Min,  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
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors OMIM:135290
Gastric Cancer
Stomach cancer OMIM:613659
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h... ORPHA:261584
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Cenani-Lenz Syndrome
Malar flattening, Frontal bossing, 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
Lynch Syndrome 1
Colon cancer OMIM:120435
Lynch Syndrome 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
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Colon cancer, Juvenile colonic pol... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Desmoid Disease, Hereditary
Colorectal polyposis, Breast carcinoma, Colon cancer, Desmoid tumors OMIM:135290
Polyposis, Intestinal, With Multiple Exostoses
Intestinal polyposis OMIM:175450
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Gastric Cancer
Stomach cancer OMIM:613659
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Hereditary Mixed Polyposis Syndrome
Refractory anemia, Endometrial carcinoma, Abnormal bleeding, Juvenile colonic polyposis, Rectal p... ORPHA:157794
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Stercoral ulcer, Episodic abdominal pain, Hematoch... ORPHA:209964
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Peutz-Jeghers Syndrome
Neoplasm of the nose, Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Neop... ORPHA:2869
Pilomatrixoma
Pilomatrixoma OMIM:132600
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Abdominal pain, Rectal prolapse, Diarrhea, Multiple gastric polyps, Hema... OMIM:174900
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Biliary tract neoplasm, Gastric diverticulum, Schwannoma, Adenomatous ... ORPHA:157798
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach... ORPHA:44890
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Squamous Cell Carcinoma Of The Anal Canal
Anal stenosis, Neoplasm of the skeletal system, Abdominal pain, Rectal prolapse, Neoplasm of the ... ORPHA:424019
Cowden Syndrome 4
Hamartoma, Renal neoplasm, Trichilemmoma, Breast carcinoma OMIM:615107
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Hypertriglyceridemia OMIM:619175
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... OMIM:619350
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Mismatch Repair Cancer Syndrome 4
Glioblastoma multiforme, Astrocytoma, Adenomatous colonic polyposis, Colon cancer, Non-Hodgkin ly... OMIM:619101
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Tumor Predisposition Syndrome 4
Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma OMIM:609265
Hirschsprung Disease
Intestinal polyposis, Nausea and vomiting, Intestinal obstruction, Aganglionic megacolon, Abdomin... ORPHA:388
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Lynch Syndrome 8
Hereditary nonpolyposis colorectal carcinoma, Adenomatous colonic polyposis, Colon cancer, Endome... OMIM:613244
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain OMIM:619182
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Post-partum hemorrhage, Melena, Increased mean cor... ORPHA:98870
Fish-Eye Disease
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... OMIM:136120
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Hyperlipidemia, Hypoalbuminemia, Protein-losing enteropathy, Hypercholesterolemia OMIM:615863
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Steroid-responsive anemia, Anemia OMIM:618312
Papular Xanthoma
Hyperlipidemia ORPHA:158008
Desmoid Tumor
Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin... ORPHA:873
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Rectal polyposis, Adenomatous ... ORPHA:329971
Volvulus Of Midgut
Intestinal malrotation, Abdominal distention, Neonatal intestinal obstruction, Constipation, Volv... OMIM:193250
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis OMIM:615615
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Blue Rubber Bleb Nevus
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Hemangioma, Volvulus, Intussuscepti... OMIM:112200
Cronkhite-Canada Syndrome
Intestinal polyposis, Alopecia, Anorexia, Malabsorption, Abdominal pain, Splenomegaly, Diarrhea, ... ORPHA:2930
Anemia, Sideroblastic, 4
Abnormal erythrocyte morphology, Sideroblastic anemia, Refractory anemia with ringed sideroblasts OMIM:182170
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Colorectal poly... ORPHA:160148
Vascular Hyalinosis
Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei... OMIM:277175
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain OMIM:191390
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Gastrointestinal hemorrhage, Nausea and vomiting, Abnormal large intestine morphology, Poor appet... ORPHA:2198
Ganglioneuroma
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ep... ORPHA:251992
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Esophageal varix, Cirrhosis, Hypercho... ORPHA:75234
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Elevated circulating C-reactive protein concentration, Leukocytosis, Ulcerative colitis, Bloody d... OMIM:619398
Colorectal Cancer
Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the stomach, Renal cell carcinoma, Uter... OMIM:114500
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Adenomatous colonic polyp... ORPHA:480536
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus st... OMIM:616001
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Inflammation of the large i... OMIM:266600
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Nk-Cell Enteropathy
Colonic diverticula, Lymphoproliferative disorder, Duodenal ulcer, Abdominal pain, Abnormal gastr... ORPHA:263665
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Birt-Hogg-Dube Syndrome 1
Renal neoplasm, Cutaneous leiomyosarcoma, Trichodiscoma, Fibrofolliculoma, Multiple lipomas, Rena... OMIM:135150
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... OMIM:214900
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Familial Hypofibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:101041
Familial Dysfibrinogenemia
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Gingival bleeding ORPHA:98881
Colorectal Cancer, Susceptibility To, 10
Hereditary nonpolyposis colorectal carcinoma, Colorectal polyposis, Endometrial carcinoma OMIM:612591
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Intestinal obstruction, ... ORPHA:2591
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteosarcoma OMIM:601811
Diamond-Blackfan Anemia-Like
Steroid-responsive anemia, Pure red cell aplasia OMIM:617911
Gardner Syndrome
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Plasma Clot Retraction Factor, Deficiency Of
Gastrointestinal hemorrhage, Bruising susceptibility OMIM:262800
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... OMIM:113700
Acquired Von Willebrand Syndrome
Normocytic anemia, Gastrointestinal hemorrhage, Refractory anemia, Aortic regurgitation, Epistaxi... ORPHA:99147
Oslam Syndrome
Osteosarcoma ORPHA:2760
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Burkitt Lymphoma
Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Abdominal pain, Abnorma... ORPHA:543
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Gastrointestinal Stromal Tumor
Intestinal obstruction, Gastrointestinal stroma tumor, Neurofibroma, Constipation, Dysphagia OMIM:606764
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Lymphadenopathy, Hepatosplenomegaly OMIM:618261
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Eosinophilia, Malabsorption, Abdominal pain, Leukocyto... ORPHA:2070
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:326
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Abdominal pain, Rectal prolapse, Multiple gastric polyps, Breast carcin... OMIM:175200
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Abnormal bleeding, Subarachnoid hemorrhage, Neonatal alloimmune thro... ORPHA:853
Neuroendocrine Neoplasm Of Appendix
Nausea and vomiting, Abdominal colic, Mechanical ileus, Functional intestinal obstruction, Anorex... ORPHA:100079
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Colitis, Crohn's disease OMIM:613148
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Rectal... ORPHA:424016
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged ble... OMIM:231200
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... OMIM:610717
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Neuroendocrine Tumor Of Stomach
Anorexia, Poor appetite, Lack of bowel sounds, Bloody diarrhea, Iron deficiency anemia, Zollinger... ORPHA:100075
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Angioma, Hereditary Neurocutaneous
Gastrointestinal hemorrhage, Hemangioma OMIM:106070
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia OMIM:615214
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Autoimmune he... OMIM:243150
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Intestinal obstruction, Hypopigmentation of hair, Aganglionic megaco... ORPHA:897
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Short stature, Bone-... OMIM:607616
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Pseudomyxoma Peritonei
Nausea and vomiting, Intestinal obstruction, Abdominal pain, Inflammation of the large intestine,... ORPHA:26790
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome OMIM:201710
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Ab... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Tricuspid regurgitation, Anorexia, Bowel urgency, Ab... ORPHA:100082
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Immunodeficiency 57 With Autoinflammation
Gastritis, Perianal abscess, T lymphocytopenia, Inflammation of the large intestine, B lymphocyto... OMIM:618108
Pelvic Organ Prolapse, Susceptibility To
Rectal prolapse, Bowel incontinence OMIM:176780
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased hepatic glycogen content, Increased circulating free fatty acid level ORPHA:293964
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Adenomatous colonic polyposis, Uveal melanoma, Juvenile type ... OMIM:619975
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia OMIM:619164
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Anorexia, Poor appetite, Nausea, Abno... ORPHA:2494
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Macrocephaly-Intellectual Disability-Autism Syndrome
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Lymphoid... ORPHA:210548
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Male pseudohermaphroditism, Primary amenorrhea, Adrenogenital syndrome, Ambi... OMIM:202110
Chromosome 5Q Deletion Syndrome
Anemia of inadequate production, Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia OMIM:153550
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... ORPHA:158057
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Petechiae, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruisi... ORPHA:3002
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Glycosylphosphatidylinositol Biosynthesis Defect 17
Hypertriglyceridemia, High palate OMIM:618010
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Wide intermamillary distance, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Craniosynostosis, Micrognathia OMIM:601374
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Lynch Syndrome
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Glioblastoma multif... ORPHA:144
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Abnormal bleeding, Abdominal pain, High, narrow p... ORPHA:79076
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Nausea and vomiting, Testicular neoplasm, Abdominal pain, Abdominal dis... ORPHA:83469
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Bowel urgency, Abdominal pain, Right ventricular failure, Lack... ORPHA:100080
Patent Ductus Venosus
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia OMIM:601466
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Abdominal distention, Diarrhea, Protein-losing enteropathy ORPHA:103910
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Cowden Syndrome 7
Intestinal polyposis, Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, He... OMIM:616858
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal obstruction, Malabsorption, Pulmonary embolism, Abdominal pain, Diarrhea, Iron deficie... OMIM:226300
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Muir-Torre Syndrome
Renal neoplasm, Endometrial carcinoma, Laryngeal carcinoma, Neoplasm of the stomach, Salivary gla... ORPHA:587
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... OMIM:615558
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Neoplasm ORPHA:168811
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Gynecomastia, Adrenogenital syndrome OMIM:201910
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Hypergonadotropic Hypogonadism And Partial Alopecia
Alopecia, Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Hypertriglyceridemia OMIM:610947
Immunodeficiency 102
Hepatomegaly, Autoimmune thrombocytopenia, Nodular regenerative hyperplasia of liver, Neutropenia... OMIM:301082
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ... ORPHA:131
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea, Absence of pubertal... OMIM:618078
Pancreas, Annular
High intestinal obstruction, Duodenal stenosis OMIM:167750
Annular Pancreas
High intestinal obstruction, Duodenal stenosis ORPHA:675
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Gastroesophageal reflux OMIM:608971
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Poor appetite, Abdominal pain, Diarrhea, Melena, ... ORPHA:319218
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin concen... OMIM:603552
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, C... ORPHA:369
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Intestinal perfora... ORPHA:464321
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase OMIM:618400
Nephrotic Syndrome, Type 2
Hyperlipidemia, Hypoalbuminemia OMIM:600995
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... ORPHA:90791
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ne... OMIM:194072
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Wide intermamillary distance, Hypogonadotropic hypogonadism, Crypt... ORPHA:432
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Refractory anemia with ringed sideroblasts, Erythro... OMIM:133180
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Blue Rubber Bleb Nevus
Prolonged bleeding time, Microcytic anemia, Visceral angiomatosis, Cavernous hemangioma, Intestin... ORPHA:1059
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Bilateral breast hypoplasia, Breast ... ORPHA:69085
Immunodeficiency 85 And Autoimmunity
Villous atrophy, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphope... OMIM:619510
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circul... OMIM:300635
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... OMIM:616516
Familial Adenomatous Polyposis 4
Duodenal polyposis, Astrocytoma, Gastric adenocarcinoma, Adenomatous colonic polyposis, Uterine l... OMIM:617100
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Restrictive Dermopathy 2
Rectal prolapse, Gastroesophageal reflux, Feeding difficulties OMIM:619793
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Postnatal growth retardation, ... OMIM:613027
Bile Acid Synthesis Defect, Congenital, 4
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... OMIM:214950
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Hepatic steatos... OMIM:278000
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Tetraamelia Syndrome 2
Micropenis, Absent nipple OMIM:618021
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Splenomegaly, Enterocolitis, Anemia, Reduced natural killer cell c... OMIM:616050
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Brittle hair, Absent nipple, Sparse hair, Absent hair OMIM:614940
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Subdural hemorrhage, Abnormal pl... OMIM:273800
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... OMIM:620058
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level OMIM:615238
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Absent eyelashes, Hypoplastic... OMIM:614941
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Increased circulating androstenedione concentrati... OMIM:202010
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Premature graying of hair, Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Elevated hepatic transaminase, Hyperlipidemia ORPHA:329249
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Plin1-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... OMIM:615395
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio... ORPHA:2924
Lecithin:Cholesterol Acyltransferase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:245900
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... ORPHA:247768
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammation of the l... ORPHA:906
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Fat malabsorption, Hypocholeste... ORPHA:71
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Congenital Factor Xi Deficiency
Gastrointestinal hemorrhage, Abnormal bleeding, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong... ORPHA:329
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Myocardial infarction, Abdominal pain, Intestinal perforation, Thrombocytopenia,... ORPHA:90038
Adult Syndrome
Sparse scalp hair, Wide intermamillary distance, Absent nipple, Fair hair, Sparse axillary hair, ... OMIM:103285
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Atrophic gastritis, Cleft palate OMIM:137215
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Amed Syndrome, Digenic
Acute myeloid leukemia, Myelodysplasia, Adrenal hypoplasia, Hypoplasia of the uterus, Failure to ... OMIM:619151
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Splenomegaly, Abnormal bleeding, Malabsorption ORPHA:79301
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, Pure red cell aplasia, Erythroid hypop... ORPHA:124
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... ORPHA:1414
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Hypertriglyceridemia OMIM:177000
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Grfoma
Anorexia, Poor appetite, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... OMIM:219080
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia ORPHA:978
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Somatostatinoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Adrenocortical adenoma, C... ORPHA:97283
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Ppoma
Anorexia, Poor appetite, Lack of bowel sounds, Episodic abdominal pain, Adrenocortical adenoma, C... ORPHA:97278
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration... ORPHA:314478
Premature Ovarian Failure 3
Hypoplasia of the uterus, Premature ovarian insufficiency, Secondary amenorrhea OMIM:608996
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level OMIM:103900
Mismatch Repair Cancer Syndrome 3
Glioblastoma multiforme, Astrocytoma, Lymphoma, T-cell lymphoma, Neoplasm of the rectum, Colon ca... OMIM:619097
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Perito... ORPHA:343
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Sparse hair, Hypoplastic areola, Hypogonadism, Hypoplastic nipples OMIM:273400
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Acute colitis, Abdominal pain, Congestive heart failure, Leukocytosis, Ga... ORPHA:67
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, D... ORPHA:85450
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Schopf-Schulz-Passarge Syndrome
Ridged nail, Narrow nail, Thin nail, Poroma, Squamous cell carcinoma, Basal cell carcinoma, Onych... OMIM:224750
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding time, Increased RBC distributi... OMIM:187900
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Biliary hyperp... ORPHA:567983
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:232400
Wiskott-Aldrich Syndrome
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Prolonged b... OMIM:301000
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Cerebroretinal Microangiopathy With Calcifications And Cysts 3
Gastrointestinal hemorrhage, Feeding difficulties OMIM:620368
Immunodeficiency 54
Splenomegaly, Reduced natural killer cell count, Lymphadenopathy, Hepatomegaly OMIM:609981
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Anemia, Refractory anemia with ringed sideroblasts, Reduced hemato... OMIM:619523
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Epistaxis, Abdominal pain, Albinism, Hematoche... OMIM:203300
Pancreatic Lipase Deficiency
Fat malabsorption, Hypocholesterolemia, Steatorrhea OMIM:614338
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, T lymphocyt... OMIM:615513
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Galactor... ORPHA:397685
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... ORPHA:913
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Hemophilia A
Gastrointestinal hemorrhage, Intraventricular hemorrhage, Splenic rupture, Intracranial hemorrhag... ORPHA:98878
Carney Triad
Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin... ORPHA:139411
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Severe Hemophilia A
Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Prolonged bleeding after surgery, Pr... ORPHA:169802
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Acute hepatic failure, Hypertyrosinemia, Elevated circulating alpha-... OMIM:276700
Huriez Syndrome
Squamous cell carcinoma of the skin, Nail dystrophy, Small nail OMIM:181600
Familial Colorectal Cancer Type X
Neoplasm of the breast, Stomach cancer, Renal neoplasm, Pancreatic adenocarcinoma, Abdominal pain... ORPHA:440437
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Pancytopenia, Anorexia, Malabsorption, Hypersplenism, Thrombocytopen... ORPHA:98850
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Microcytic anemia, Pulmonary embolism, Retinal telangiectasia, Intes... ORPHA:774
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Macroglossi... ORPHA:85446
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged... ORPHA:849
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Alopecia, Malabsorption, Abdominal pain, Splenomegaly, Lymph... ORPHA:100025
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Bifid scrotum, Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Male pseudo... OMIM:201810
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... ORPHA:1173
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating co... OMIM:615830
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
D-Glyceric Aciduria
Hyperglycinemia, Nonketotic hyperglycinemia, Increased circulating free fatty acid level ORPHA:941
Vipoma
Anorexia, Poor appetite, Secretory diarrhea, Benign gastrointestinal tract tumors, Follicular thy... ORPHA:97282
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Hodgkin lymphoma, Absent circulating B cells OMIM:620282
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Lactose intolerance, Curly hair, Cryptorchidism, Protuberant abdomen, Hemangioma, Intestinal polyp ORPHA:457485
Glucagonoma
Anorexia, Poor appetite, Lack of bowel sounds, Acanthocytosis, Episodic abdominal pain, Adrenocor... ORPHA:97280
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Gastrointestinal infarctions OMIM:602248
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Ectodermal Dysplasia With Adrenal Cyst
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia OMIM:129550
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... ORPHA:71212
Rotor Syndrome
Conjugated hyperbilirubinemia, Jaundice, Intermittent jaundice, Hyperbilirubinemia, Storage in he... ORPHA:3111
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... ORPHA:69663
Barber-Say Syndrome
Inverted nipples, Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hypoplastic la... OMIM:209885
Acrorenal-Mandibular Syndrome
Absent nipple, Abnormality of the breast, Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Trichoschisis, Malabsorption, Chronic diarrhea, Squamous ce... OMIM:601675
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circul... ORPHA:3453
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation ORPHA:2978
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... ORPHA:404
Werner Syndrome
Alopecia of scalp, Meningioma, Osteosarcoma OMIM:277700
Hemophilia B
Gastrointestinal hemorrhage, Abnormal bleeding, Joint hemorrhage, Persistent bleeding after trauma OMIM:306900
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Hemorrhagic Fever-Renal Syndrome
Intracranial hemorrhage, Vomiting, Ecchymosis, Internal hemorrhage, Nausea, Abdominal pain, Leuko... ORPHA:340
Secondary Intestinal Lymphangiectasia
Intestinal obstruction, Abdominal colic, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ... ORPHA:403
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... OMIM:615980
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Alopecia, Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Chronic d... OMIM:304790
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia... ORPHA:276
Multiple Endocrine Neoplasia Type 1
Anorexia, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenom... ORPHA:652
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis ORPHA:79085
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... OMIM:618398
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hypertriglyceridemia OMIM:617885
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Increased serum testoster... ORPHA:96181
Oligodontia-Colorectal Cancer Syndrome
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Breast ca... OMIM:608615
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Dengue Fever
Gastrointestinal hemorrhage, Nausea and vomiting, Petechiae, Epistaxis, Cerebral hemorrhage, Abdo... ORPHA:99828
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Acute Erythroid Leukemia
Pancytopenia, Erythroid hypoplasia, Leukopenia, Refractory anemia with ringed sideroblasts, Anemia ORPHA:318
Becker Nevus Syndrome
Supernumerary nipple, Hypoplastic labia minora, Aplasia/Hypoplasia of the breasts, Abnormality of... ORPHA:64755
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, Absent natura... OMIM:600802
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Abnormal bleeding, Spontaneous, recurrent epistaxis, Hematemesis, Pr... ORPHA:274
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Macrocytic anemia, Abnormal cardiac ventricular function, S... ORPHA:98826
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Macrothrombocytopenia, Anemia, Spontaneous hematomas, Menorrhagia, ... OMIM:616176
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Intestinal obstruction, H... ORPHA:3440
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Decreased mean platelet volume, Bloody diarrhea, Hematochezia, Subconjunctival hemorr... OMIM:617718
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Abdominal pain, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Chronic diarrhea, Congestive ... OMIM:615895
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Caroli Syndrome
Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Hyperspl... ORPHA:480520
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Esophagea... OMIM:617341
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Telangiectasia, Hematochezia, Hamartomatous polyp... OMIM:175050
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperlipidemia, Hyperuricemia ORPHA:364
Familial Melanoma
Neoplasm of the pancreas, Neoplasm of the stomach, Abnormal hair morphology, Melanoma, Neoplasm o... ORPHA:618
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Malabsorption, Protruding tongue, Macroglossia, T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Hepatic steatosis OMIM:608709
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Anemia, Increased mean corpuscular volume, ... OMIM:619041
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic nipples, Hypospadias, Hypoplastic female external genitalia OMIM:177980
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Abnormal tongue morphology, Hi... ORPHA:2457
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Anal stenosis, Abnormality of neutrophils, Malabsorption, ... ORPHA:235
Brooke-Spiegler Syndrome
Skin appendage neoplasm, Salivary gland neoplasm, Abnormality of the submandibular glands, Basal ... ORPHA:79493
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Neoplasm of head and neck, Goiter, Breast carcinoma, Papillary renal cell carcinoma, Colon cancer... ORPHA:97290
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia OMIM:608600
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hyperalaninemia, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Ele... OMIM:619048
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Autosomal Dominant Spastic Paraplegia Type 29
Abnormal rectum morphology, Hiatus hernia ORPHA:101009
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia ORPHA:231393
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... OMIM:619013
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Ichthyosis With Confetti
Decreased body weight, Hypoplastic nipples, Hypertrichosis OMIM:609165
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Intestinal polyposis, Abnormal large intestine morphology, Viscer... ORPHA:109
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Hyperlipidemia, Abnormality of the gastrointestinal tract ORPHA:2089
Diamond-Blackfan Anemia 21
Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Osteosarcoma OMIM:620072
Mccune-Albright Syndrome
Intestinal polyposis, Hyperparathyroidism, Elevated circulating growth hormone concentration, Pit... OMIM:174800
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, B-cell lymphoma, Burkitt lymphoma OMIM:620232
Thrombocytopenia 5
Petechiae, Epistaxis, B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, ... OMIM:616216
Igg4-Related Aortitis
Intestinal obstruction, Hypereosinophilia, Abdominal pain ORPHA:449400
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Absent nipple, Brittle hair, Sparse eyelashes, Aplasia/Hypoplastia of the eccrine... OMIM:305100
Lynch Syndrome 4
Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm OMIM:614337
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholangiocarcinoma, Abnormal eosinophil morphology, Abnormal large intesti... ORPHA:171
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische... ORPHA:183
Immunodeficiency 16
Splenomegaly, Kaposi's sarcoma, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Combined Oxidative Phosphorylation Deficiency 21
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia OMIM:615918
Barrett Esophagus
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux OMIM:614266
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Rothmund-Thomson Syndrome, Type 2
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... OMIM:268400
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173