Not currently registered for phenotyping at IMPC

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

Gene Summary

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

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, Colon cancer OMIM:135290
Gastric Cancer
Stomach cancer OMIM:613659
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Desmoid Tumor
Gastrointestinal hemorrhage, Abdominal pain, Fibroma, Desmoid tumors, Intestinal polyposis, Malab... ORPHA:873
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion
Iron deficiency anemia, Intestinal bleeding, Osteoma, Desmoid tumors, Early balding, Adenomatous ... ORPHA:261584
Hepatocellular Carcinoma
Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis OMIM:114550
Cenani-Lenz Syndrome
Abnormal dental enamel morphology, Malar flattening, Frontal bossing ORPHA:3258

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Polyposis, Intestinal, Scattered And Discrete
Discrete intestinal polyps OMIM:175400
Sessile Serrated Polyposis Cancer Syndrome
Serrated intestinal polyps OMIM:617108
Polyposis, gastric
Multiple gastric polyps OMIM:175020
Lynch Syndrome I
Colon cancer OMIM:120435
Colorectal Cancer, Hereditary Nonpolyposis, Type 2
Colon cancer OMIM:609310
Familial Adenomatous Polyposis 2
Adenomatous colonic polyposis, Colon cancer OMIM:608456
Colorectal Cancer, Susceptibility To, 3
Colon cancer OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2
Hyperplastic colonic polyposis, Adenomatous colonic polyposis, Juvenile colonic polyposis, Colon ... OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type
Gastric lymphoma OMIM:137245
Esophageal Cancer
Esophageal carcinoma OMIM:133239
Axin2-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis, Colon cancer ORPHA:401911
Colorectal Cancer, Hereditary Nonpolyposis, Type 6
Hereditary nonpolyposis colorectal carcinoma OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Hereditary nonpolyposis colorectal carcinoma OMIM:613244
Colorectal Cancer, Hereditary Nonpolyposis, Type 7
Hereditary nonpolyposis colorectal carcinoma OMIM:614385
Polyposis, Intestinal, With Multiple Exostoses
Multiple exostoses, Intestinal polyposis OMIM:175450
Familial Adenomatous Polyposis 4
Thyroid adenoma, Stomach cancer, Papilloma, Astrocytoma OMIM:617100
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Desmoid Disease, Hereditary
Desmoid tumors, Colon cancer OMIM:135290
Cholesterol-Ester Transfer Protein Deficiency
Hypercholesterolemia, Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipoprot... ORPHA:79506
Gastric Cancer
Stomach cancer OMIM:613659
Glycogen Storage Disease Vi
Hypercholesterolemia, Elevated hepatic transaminase, Hyperlipidemia, Hepatomegaly, Hypertriglycer... OMIM:232700
Glycogen Storage Disease Ixa1
Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Elevated hepatic transaminase OMIM:306000
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Colorectal polyposis, Large intestinal polyposis, ... ORPHA:247798
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Paraganglioma And Gastric Stromal Sarcoma
Neoplasm of the gastrointestinal tract, Paraganglioma OMIM:606864
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Hereditary Mixed Polyposis Syndrome
Abnormal bleeding, Rectal polyposis, Neoplasm of the gastrointestinal tract, Adenocarcinoma of th... ORPHA:157794
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatic steatosis, Hepatic fibrosis, Hypertriglyceridemia, Hepatom... OMIM:614480
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Basal cell carcinoma, Ovarian neoplasm, Multinodular goiter, Pilomatri... ORPHA:276399
Anal Canal Carcinoma
Anal canal squamous carcinoma OMIM:105580
Trichoepitheliomas, Multiple Desmoplastic
Neoplasm of the skin, Trichoepithelioma OMIM:190345
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Peutz-Jeghers Syndrome
Neoplasm, Breast carcinoma, Anemia, Vomiting, Gastrointestinal infarctions, Abnormality of the ga... ORPHA:2869
Pilomatrixoma
Pilomatrixoma OMIM:132600
Mismatch Repair Cancer Syndrome 4
Non-Hodgkin lymphoma, Glioblastoma multiforme, Adenomatous colonic polyposis, Astrocytoma, Colon ... OMIM:619101
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception OMIM:175510
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Abnormal circulating lipid concentration, Hepatic steatosis OMIM:615238
Serrated Polyposis Syndrome
Biliary tract neoplasm, Gastric diverticulum, Prostate cancer, Ovarian neoplasm, Germ cell neopla... ORPHA:157798
Gastrointestinal Stromal Tumor
Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestinal hemorrhag... ORPHA:44890
Juvenile Polyposis Syndrome
Multiple gastric polyps, Hematochezia, Intussusception, Abdominal pain, Rectal prolapse, Diarrhea... OMIM:174900
Immunodeficiency 40
Lymphopenia OMIM:616433
Colonic Varices Without Portal Hypertension
Colonic varices, Intestinal bleeding OMIM:120440
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Lymphoproliferative Syndrome 3
Lymphoproliferative disorder, Reduced natural killer cell count, Hodgkin lymphoma, Hepatosplenome... OMIM:618261
Squamous Cell Carcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424019
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Hypertriglyceridemia, Splenomegaly OMIM:619175
Visceral Myopathy 2
Megaduodenum, Hiatus hernia, Esophagitis, Dysphagia, Gastroesophageal reflux, Intestinal malrotat... OMIM:619350
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Cowden Syndrome 4
Renal neoplasm, Hamartoma, Trichilemmoma OMIM:615107
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Polymerase Proofreading-Related Adenomatous Polyposis
Adenocarcinoma of the colon, Neoplasm of the rectum, Endometrial carcinoma, Colorectal polyposis,... ORPHA:447877
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Fibroma, Uterine leiomyoma, Colorectal polyposis, ... ORPHA:220460
Polyposis of gastric fundus without polyposis coli
Multiple gastric polyps, Abnormality of the gastric mucosa OMIM:175505
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Volvulus Of Midgut
Constipation, Intestinal malrotation, Volvulus, Abdominal distention, Neonatal intestinal obstruc... OMIM:193250
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach
Melena, Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma OMIM:619182
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Sitosterolemia 2
Hypercholesterolemia, Elevated circulating sitosterol concentration OMIM:618666
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Fish-Eye Disease
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Increased LDL cholesterol concent... OMIM:136120
Congenital Disorder Of Glycosylation, Type Iip
Hypercholesterolemia, Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function,... OMIM:616829
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Post-partum hemorrhage, Oral cavity bleeding, Hyperbilirub... ORPHA:98870
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Villous atrophy, Protein-losing enteropathy, Hypoalbuminemia, Hyperlipidemia OMIM:615863
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Multiple gastric polyps, Abnormal bleeding, Rectal polyposis, Hematochezia, Small intestinal poly... ORPHA:329971
Diamond-Blackfan Anemia 19
Erythroid hypoplasia, Anemia, Steroid-responsive anemia OMIM:618312
Factor Vii And Factor Viii, Combined Deficiency Of
Intestinal bleeding OMIM:134430
Hirschsprung Disease
Abdominal pain, Neoplasm of the thyroid gland, Constipation, Aganglionic megacolon, Functional ab... ORPHA:388
Hyperlipoproteinemia, Type Ii, And Deafness
Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:144300
Ovarian Dysgenesis 2
Gonadal hypoplasia, Abnormality of the uterus, Hypergonadotropic hypogonadism, Hirsutism, Hypopla... OMIM:300510
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Cap Polyposis
Abdominal pain, Hematochezia, Constipation, Chronic atrophic gastritis, Colorectal polyposis, Dia... ORPHA:160148
Colorectal Cancer
Renal cell carcinoma, Neoplasm of the stomach, Hereditary nonpolyposis colorectal carcinoma, Tran... OMIM:114500
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:603813
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia, Recurrent gastroenteritis OMIM:615615
Desmoid Tumor
Gastrointestinal hemorrhage, Abdominal pain, Fibroma, Desmoid tumors, Intestinal polyposis, Malab... ORPHA:873
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Cirrhosis, Intrahepatic cholestasis, Hyperbilirubinemia, Hypermethioninemia... OMIM:605814
Anemia, Sideroblastic, 4
Sideroblastic anemia, Refractory anemia with ringed sideroblasts, Abnormal erythrocyte morphology OMIM:182170
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Hematochezia, Diarrhea, Abdominal pain OMIM:191390
Vascular Hyalinosis
Premature graying of hair, Hematochezia, Subarachnoid hemorrhage, Protein-losing enteropathy, Dia... OMIM:277175
Ganglioneuroma
Functional intestinal obstruction, Ganglioneuroma, Gastrointestinal hemorrhage, Neoplasm of the a... ORPHA:251992
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Nk-Cell Enteropathy
Gastric ulcer, Lymphoproliferative disorder, Increased T cell count, Hematochezia, Abdominal pain... ORPHA:263665
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia, ... OMIM:619398
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Abdominal pain, Ulcerative colitis, Crohn's disease, Diarrhe... OMIM:266600
Msh3-Related Attenuated Familial Adenomatous Polyposis
Multiple gastric polyps, Colon cancer, Ovarian dermoid cyst, Neoplasm of the rectum, Uterine leio... ORPHA:480536
Cholesteryl Ester Storage Disease
Hypercholesterolemia, Cirrhosis, Esophageal varix, Hepatomegaly, Hypertriglyceridemia, Jaundice, ... ORPHA:75234
Cholestasis-Lymphedema Syndrome
Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Conjugated hyperbil... OMIM:214900
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Poor suck, Gastrointestinal hemorrhage, Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, ... ORPHA:2198
Blue Rubber Bleb Nevus
Iron deficiency anemia, Hemangioma, Intestinal bleeding, Intussusception, Thrombocytopenia, Recta... OMIM:112200
Niemann-Pick Disease, Type B
Bone-marrow foam cells, Sea-blue histiocytosis, Hypertriglyceridemia, Hepatomegaly, Short stature... OMIM:607616
Birt-Hogg-Dube Syndrome
Fibrofolliculoma, Renal neoplasm, Trichodiscoma, Cutaneous leiomyoma, Renal cell carcinoma, Multi... OMIM:135150
Cronkhite-Canada Syndrome
Aplasia/Hypoplasia of the eyebrow, Abdominal pain, Gastrointestinal carcinoma, Anorexia, Neoplasm... ORPHA:2930
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia ORPHA:366
Citrullinemia, Type Ii, Adult-Onset
Elevated hepatic transaminase, Hepatic steatosis, Hepatocellular carcinoma, Hypertriglyceridemia,... OMIM:603471
Coronary Artery Disease, Autosomal Dominant 2
Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia OMIM:610947
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Morbid Obesity And Spermatogenic Failure
Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia, Decreased HDL cholesterol concentr... OMIM:615703
Familial Hypofibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:101041
Familial Dysfibrinogenemia
Abnormal bleeding, Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage ORPHA:98881
Premature Aging Syndrome, Okamoto Type
Neoplasm, Osteosarcoma, Abnormal hair morphology OMIM:601811
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Diamond-Blackfan Anemia-Like
Pure red cell aplasia, Steroid-responsive anemia OMIM:617911
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Pelvic Organ Prolapse, Susceptibility To
Bowel incontinence, Rectal prolapse OMIM:176780
Immunodeficiency 8
Lymphopenia OMIM:615401
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Hypochromic anemia, Joint hemorrhage, Gastrointestinal hemorrha... ORPHA:99147
Plasma Clot Retraction Factor, Deficiency Of
Bruising susceptibility, Gastrointestinal hemorrhage OMIM:262800
Transient Erythroblastopenia Of Childhood
Transient erythroblastopenia, Anemia OMIM:227050
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hepatic steatosis OMIM:613877
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic areola, Absent ... OMIM:113700
Enterocolitis
Enterocolitis, Ulcerative colitis, Abdominal distention, Hematochezia OMIM:226150
Oslam Syndrome
Osteosarcoma ORPHA:2760
Burkitt Lymphoma
Neoplasm of the oral cavity, Gastrointestinal hemorrhage, Abdominal pain, Decreased proportion of... ORPHA:543
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Neurofibromas, Dysphagia, Constipation, Intestinal obstruction OMIM:606764
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Gastrointestinal hemorrhage, Abdominal pain, Dysphagia, Paragangli... ORPHA:97286
Congenital Factor V Deficiency
Persistent bleeding after trauma, Prolonged bleeding after surgery, Joint hemorrhage, Gastrointes... ORPHA:326
Paget Disease Of Bone 3
Osteosarcoma OMIM:167250
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Enchondromatosis, Multiple, Ollier Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:166000
Eosinophilic Gastroenteritis
Abdominal pain, Hematochezia, Abnormality of the gastrointestinal tract, Dysphagia, Leukocytosis,... ORPHA:2070
Hyperlipidemia, Familial Combined, 3
Hypercholesterolemia, Xanthelasma, Increased VLDL cholesterol concentration, Elevated circulating... OMIM:144250
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Colitis, Crohn's disease, Perianal abscess, Enterocolitis OMIM:613148
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Ambiguous genitalia, Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Fetal And Neonatal Alloimmune Thrombocytopenia
Cephalohematoma, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage... ORPHA:853
Familial Adenomatous Polyposis
Colorectal polyposis, Adenomatous colonic polyposis, Neoplasm of the adrenal gland, Fibroma, Neop... ORPHA:733
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Pseudomyxoma Peritonei
Inflammation of the large intestine, Abdominal pain, Constipation, Nausea and vomiting, Intestina... ORPHA:26790
Infantile Myofibromatosis
Gingival fibromatosis, Abnormal hair morphology, Benign neoplasm of the central nervous system, F... ORPHA:2591
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Glossitis, Abdominal pain, Hematochezia, Gastrointestinal carcinoma, Anorexia, Protein-losing ent... OMIM:175500
Neuroendocrine Neoplasm Of Appendix
Intestinal carcinoid, Adenocarcinoma of the colon, Functional intestinal obstruction, Ovarian neo... ORPHA:100079
Diethylstilbestrol Syndrome
Cryptorchidism, Decreased fertility in females, Abnormality of the uterus, Abnormal reproductive ... ORPHA:1916
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Peutz-Jeghers Syndrome
Iron deficiency anemia, Ovarian cyst, Precocious puberty with Sertoli cell tumor, Intestinal blee... OMIM:175200
Premature Ovarian Failure 3
Secondary amenorrhea, Hypoplasia of the uterus, Premature ovarian insufficiency OMIM:608996
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Anal stenosis, Neoplasm of the rectum, Abdominal pain, Neoplasm of the liver... ORPHA:424016
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding OMIM:600195
Lipase Deficiency, Combined
Hypertriglyceridemia, Pancreatitis OMIM:246650
Waardenburg-Shah Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, White eyebrow, Premature graying of hair, ... ORPHA:897
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Prim... OMIM:612964
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B-cell lymphoma, Colitis, B lymphocytopenia, Splenomegaly, Lympha... OMIM:619164
Multiple Enchondromatosis, Maffucci Type
Hemangioma, Chondrosarcoma, Multiple enchondromatosis OMIM:614569
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Ring Chromosome Y Syndrome
Cryptorchidism, Male hypogonadism, Gynecomastia, Female infertility, Male infertility, Abnormal s... ORPHA:261529
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Spleno... OMIM:612526
Aprosencephaly And Cerebellar Dysgenesis
Micrognathia, Craniosynostosis, Aprosencephaly, Absent mesencephalon OMIM:601374
Neuroendocrine Tumor Of The Rectum
Lack of bowel sounds, Palpitations, Tenesmus, Right ventricular failure, Elevated hepatic transam... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Lack of bowel sounds, Palpitations, Tenesmus, Right ventricular failure, Elevated hepatic transam... ORPHA:100082
Neuroendocrine Tumor Of Stomach
Lack of bowel sounds, Carcinoid tumor, Tricuspid regurgitation, Melena, Anorexia, Bloody diarrhea... ORPHA:100075
Hepatic Adenomas, Familial
Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Meckel Diverticulum
Meckel diverticulum OMIM:155140
Lipoid Congenital Adrenal Hyperplasia
Hypospadias, Adrenogenital syndrome, Congenital adrenal hyperplasia OMIM:201710
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Turcot Syndrome With Polyposis
Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cerebellar ... ORPHA:99818
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, T lymphocytopenia, Reduced natural killer cell count, Perian... OMIM:618108
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, Gynecomastia, Primary amenorrhea, Male pseudohermaphroditism, Adrenal hyperp... OMIM:202110
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Elevated ci... OMIM:610717
Blood Group, Cromer System
Protein-losing enteropathy OMIM:613793
Radiation Proctitis
Tenesmus, Arteritis, Rectal fistula, Hematochezia, Abnormal rectum morphology, Abnormality of gas... ORPHA:70475
Patent Ductus Venosus
Hepatic steatosis, Hyperammonemia, Decreased liver function, Hypergalactosemia OMIM:601466
Perrault Syndrome 6
Irregular menstruation, Hypoplasia of the uterus, Streak ovary, Primary amenorrhea, Secondary ame... OMIM:617565
Ménétrier Disease
Multiple gastric polyps, Hypochromic microcytic anemia, Malnutrition, Gastrointestinal hemorrhage... ORPHA:2494
Gastroesophageal Reflux
Esophagitis, Gastroesophageal reflux, Barrett esophagus, Esophageal neoplasm OMIM:109350
Chromosome 5Q Deletion Syndrome
Erythroid hypoplasia, Myelodysplasia, Anemia of inadequate production, Refractory macrocytic anemia OMIM:153550
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Increased LDL cholester... OMIM:616516
Pancreas, Annular
Duodenal stenosis, High intestinal obstruction, Annular pancreas OMIM:167750
Annular Pancreas
Duodenal stenosis, High intestinal obstruction, Annular pancreas ORPHA:675
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, In... OMIM:173470
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Ectodermal Dysplasia, Trichoodontoonychial Type
Absent nipple, Sparse hair OMIM:129510
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Small nail, Poroma, Sparse hair, Onycholysis, Ridged nail, Apocrine hidrocy... OMIM:224750
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary, Wide intermamillary distance ORPHA:1875
Hypertriglyceridemia 1
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:144600
Werner Syndrome
Meningioma, Osteosarcoma, Abnormal hair morphology OMIM:277700
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage... ORPHA:3002
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Duodenal Neuroendocrine Tumor
Insulinoma, Melena, Episodic vomiting, Iron deficiency anemia, Cardiogenic shock, Intestinal carc... ORPHA:100076
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Punctate Palmoplantar Keratoderma Type 1
Hodgkin lymphoma, Renal cell carcinoma, Breast carcinoma, Transitional cell carcinoma of the blad... ORPHA:79501
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:205950
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Prolonged neonatal ... OMIM:616828
Angioma, Hereditary Neurocutaneous
Hemangioma, Gastrointestinal hemorrhage OMIM:106070
Gonadoblastoma
Ambiguous genitalia, Abnormality of the ovary, Dysgerminoma, Hirsutism, Female external genitalia... ORPHA:206484
Juvenile Polyposis Of Infancy
Abnormal bleeding, Hemangioma, Hamartomatous polyposis, Intestinal bleeding, Subcutaneous lipoma,... ORPHA:79076
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Glycosylphosphatidylinositol Biosynthesis Defect 17
High palate, Hypertriglyceridemia OMIM:618010
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Functional intestinal obstruction, Intestinal malrotation, Colonic diverticula, Vomiting, Episodi... OMIM:243180
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Gynecomastia, Primary amenorrhea, Hypogona... OMIM:614837
Neuroendocrine Tumor Of The Colon
Lack of bowel sounds, Palpitations, Right ventricular failure, Bowel urgency, Atypical pulmonary ... ORPHA:100080
Muir-Torre Syndrome
Laryngeal carcinoma, Renal neoplasm, Salivary gland neoplasm, Endometrial carcinoma, Neoplasm of ... ORPHA:587
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic nipples, Absent nipple OMIM:616001
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Streak ovary, Primary a... OMIM:612310
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Hepa... OMIM:207750
Congenital Enterocyte Heparan Sulfate Deficiency
Protein-losing enteropathy, Diarrhea, Abdominal distention, Hematochezia ORPHA:103910
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypercholesterolemia, Hepatic steatosis, Macrovesicular hepatic steatosis, Cholesterol gallstones... ORPHA:209902
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Nausea and vomiting, Abdominal pain, Sa... ORPHA:83469
Carcinoma Of Esophagus
Dysphagia, Gastroesophageal reflux, Esophageal neoplasm, Abnormal intestine morphology, Barrett e... ORPHA:70482
Gastrointestinal Defects And Immunodeficiency Syndrome
Hematochezia, Autoimmune hemolytic anemia, Intestinal malrotation, Hypoplasia of the thymus, Inte... OMIM:243150
Exostoses, Multiple, Type Ii
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133701
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Primary amenorrhea, Decreased circul... OMIM:614841
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Gynecomastia OMIM:201910
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Gynecomastia, Truncal obesity, Failure to thrive, Sparse body hair, Decreased tes... ORPHA:261483
Exostoses, Multiple, Type I
Scapular exostoses, Rib exostoses, Chondrosarcoma, Pelvic bone exostoses OMIM:133700
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Infertility, Male hypogonadism, Increased circulating gonadotropin level, Abnormal vagina morphol... ORPHA:168563
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Barber-Say Syndrome
Absent nipple, Hypoplastic nipples, Hypertrichosis, Abnormality of male external genitalia, Abnor... OMIM:209885
Diamond-Blackfan Anemia 17
Anemia OMIM:617409
Premature Ovarian Failure 5
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea OMIM:611548
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormality of the uterus, Abnormal vagina morphology, Gonadoblastoma, Streak ova... OMIM:194072
Lynch Syndrome
Basal cell carcinoma, Ovarian neoplasm, Colon cancer, Benign neoplasm of the central nervous syst... ORPHA:144
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Premature ovarian insufficiency, Failure to thrive ORPHA:2278
Oncogenic Osteomalacia
Neoplasm of head and neck, Neurofibromas, Carcinoma, Giant cell tumor of bone, Neoplasm of the sk... ORPHA:352540
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, T lymphocytopenia, Lymphadenopathy, Splenomegaly OMIM:608971
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Hypersplenism, Bone-marrow foam... OMIM:278000
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hypertriglyceridemia OMIM:615924
Premature Ovarian Failure 19
Irregular menstruation, Female infertility, Secondary amenorrhea, Premature ovarian insufficiency OMIM:619245
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Primary Pigmented Nodular Adrenocortical Disease
Slender build, Diabetes mellitus, Hypogonadism, Adrenal hyperplasia, Pigmented micronodular adren... ORPHA:189439
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Hepatic steatosis, Mildly elevated creatine kinase, Elevated hepatic transaminase OMIM:618400
Familial Hyperprolactinemia
Infertility, Amenorrhea, Oligomenorrhea, Hemorrhagic ovarian cyst, Galactorrhea, Female hypogonad... ORPHA:397685
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary, Alopecia OMIM:241090
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Hereditary Breast And Ovarian Cancer Syndrome
Prostate cancer, Ovarian neoplasm, Primary peritoneal carcinoma, Breast carcinoma, Neoplasm of th... ORPHA:145
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Absent hair, Absent nipple, Sparse hair OMIM:614940
Gastric Cancer, Hereditary Diffuse
Neoplasm, Stomach cancer, Chronic atrophic gastritis, Cleft palate OMIM:137215
Budd-Chiari Syndrome
Peritonitis, Gastrointestinal hemorrhage, Abdominal pain, Gastrointestinal infarctions, Acute hep... ORPHA:131
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Gynecomastia, Increased female libido, Delayed puberty, Second... ORPHA:432
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Thrombocytosis, Abdominal pain, Diarrhea, Vomiting, Abnormal intestine mo... OMIM:226300
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Verrucae, Squamous cell carcinoma of the skin OMIM:618309
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Juvenile Nasopharyngeal Angiofibroma
Juvenile nasopharyngeal angiofibroma, Juvenile colonic polyposis ORPHA:289596
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Hyp... OMIM:612885
Immunodeficiency 54
Lymphoproliferative disorder, Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymp... OMIM:609981
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Hirsutism, Gynecomasti... ORPHA:90791
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carc... ORPHA:369
Premature Ovarian Failure 2B
Delayed puberty, Premature ovarian insufficiency, Primary amenorrhea OMIM:300604
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Inflammation of the large intesti... OMIM:300635
Hermansky-Pudlak Syndrome 1
Inflammation of the large intestine, Albinism, Prolonged bleeding time, Abnormal hair morphology,... OMIM:203300
Focal Segmental Glomerulosclerosis 1
Hypertension, Hyperlipidemia, Hypoalbuminemia, Anemia OMIM:603278
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Meningioma, Menometrorrhagia, Macronodular adrenal hyperplasia, Truncal obesity, Failure to thriv... ORPHA:189427
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Ataxia With Vitamin 3 Deficiency
Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concentration OMIM:277460
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Cowden Syndrome 7
Hemangioma, Ductal carcinoma in situ, Goiter, Intestinal polyposis, Breast carcinoma, Trichilemmo... OMIM:616858
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Juvenile Polyposis Syndrome
Hamartomatous stomach polyps, Diarrhea, Juvenile gastrointestinal polyposis, Abnormal onset of bl... ORPHA:2929
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Morphological abnormality of the gastrointestinal tract, Intestinal perforation, Gastrointestinal... ORPHA:464321
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Aplasia of the ovary, Sparse eyebrow, Breast aplasia,... ORPHA:69085
Glanzmann Thrombasthenia 1
Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epistaxis... OMIM:273800
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Retinoblastoma
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Leukemia, Ewing sarcoma OMIM:180200
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hypertriglyceridemia, Hepatic steatosis ORPHA:280356
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Long penis, Elevated serum 11-deoxycortisol,... OMIM:202010
Cholestasis-Lymphedema Syndrome
Cirrhosis, Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Biliary tract abnorma... ORPHA:1414
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Anemia, Splen... OMIM:616050
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Osteosarcoma, Premature graying of hair, Histiocytoma OMIM:112250
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Glycogen Storage Disease Ixc
Cirrhosis, Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile ... OMIM:613027
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:245900
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Oligomenorrhea, Hypopl... OMIM:615300
46,Xy Sex Reversal 3
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Exaggerated rugosity of the ... OMIM:612965
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Decreased circulating cortisol level, Endometrial carcinoma, Hyperactive renin-angiotensin system... ORPHA:90790
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute colitis, Peritonitis, Microangiopathic hemolytic anemia, Intestinal perforation, Intussusce... ORPHA:90038
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Abnormal vagina morphology, High anterior hairline, Hirsutism, Hypoplas... ORPHA:247768
Lipodystrophy, Familial Partial, Type 6
Elevated circulating creatine kinase concentration, Hepatic steatosis, Abnormal circulating lipid... OMIM:615980
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Colitis, Thrombocytopenia, Hypert... OMIM:613101
Congenital Factor Xi Deficiency
Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleeding after dental... ORPHA:329
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infan... ORPHA:99976
Malignant Peritoneal Mesothelioma
Peritonitis, Abdominal pain, Neoplasm, Ileus, Abdominal distention ORPHA:168811
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Absence of intrinsic factor OMIM:243320
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive
Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor... OMIM:206000
Blue Rubber Bleb Nevus
Intestinal bleeding, Prolonged bleeding time, Microcytic anemia, Gastrointestinal infarctions, Ca... ORPHA:1059
Cushing Disease
Infertility, Truncal obesity, Menorrhagia, Metrorrhagia, Failure to thrive, Diabetes mellitus, Ge... ORPHA:96253
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Lymphoproliferative disorder, Decreased proportion of CD3-positive T cells, Decre... ORPHA:276
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent nipple, Sparse hair, Hypoplastic nipples, Sparse scalp hair, Sparse lateral eyebrow, Spars... OMIM:614941
Protoporphyria, Erythropoietic, 1
Hepatic failure, Hypertriglyceridemia, Cholelithiasis OMIM:177000
Grfoma
Lack of bowel sounds, Adrenocortical adenoma, Elevated circulating growth hormone concentration, ... ORPHA:97261
Adult Syndrome
Absent nipple, Breast hypoplasia, Sparse axillary hair, Fair hair, Hypoplastic nipples, Alopecia ... OMIM:103285
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Wiskott-Aldrich Syndrome
Decreased proportion of CD4-positive helper T cells, Melena, Diarrhea, Eosinophilia, Iron deficie... OMIM:301000
Lujo Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute hepatic failure, Diarrhea, Cardiac arrest, Nausea and vomiting ORPHA:319213
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration ORPHA:140905
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis ORPHA:79085
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
African Iron Overload
Increased circulating ferritin concentration, Peritonitis, Micronodular cirrhosis, Increased circ... ORPHA:139507
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Ppoma
Lack of bowel sounds, Adrenocortical adenoma, Elevated circulating growth hormone concentration, ... ORPHA:97278
Somatostatinoma
Lack of bowel sounds, Adrenocortical adenoma, Elevated circulating growth hormone concentration, ... ORPHA:97283
Premature Ovarian Failure 1
Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency OMIM:311360
Amed Syndrome, Digenic
Myelodysplasia, Adrenal hypoplasia, Hypoplasia of the uterus, Acute myeloid leukemia, Failure to ... OMIM:619151
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Breast hypoplasia, Absence of secondary sex characteristics, Primary amenorrhea, Obesity, Delayed... ORPHA:2235
Congenital Factor Vii Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Intracranial hem... ORPHA:327
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Villous atrophy, Conjugated hyperbil... ORPHA:567983
Adult Syndrome
Absent nipple, Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair, Alopecia, Fine hair ORPHA:978
Isobutyryl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Dilated cardiomyopathy, Anemia OMIM:611283
Zollinger-Ellison Syndrome
Elevated circulating growth hormone concentration, Adrenocortical adenoma, Diarrhea, Adrenocortic... ORPHA:913
Congenital Bile Acid Synthesis Defect Type 1
Abnormal bleeding, Malabsorption, Gastrointestinal hemorrhage, Splenomegaly ORPHA:79301
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Neoplasm, Anemia, Acute leukemia, Purpura... ORPHA:906
Hemochromatosis Type 4
Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Congenital hepatic fi... ORPHA:139491
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated hepatic transaminase OMIM:615395
Hyperlipoproteinemia, Type I
Hypercholesterolemia, Increased circulating chylomicron concentration, Jaundice, Pancreatitis, Sp... OMIM:238600
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Verrucae, Neutropenia OMIM:614868
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Micrognathia, Molar tooth sign on MRI, Hydrocephalus OMIM:614120
Severe Hemophilia A
Cephalohematoma, Prolonged bleeding after surgery, Persistent bleeding after trauma, Joint hemorr... ORPHA:169802
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Colorectal Cancer, Hereditary Nonpolyposis, Type 5
Endometrial carcinoma, Hereditary nonpolyposis colorectal carcinoma OMIM:614350
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Leukemia, Malabsorption, Cutaneous mastocytosis ORPHA:79456
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Prolonged prothrombin time, Gastrointestinal hemorrhag... OMIM:613679
Satoyoshi Syndrome
Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, Abnormal hai... ORPHA:3130
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Purpura, Abdominal pain, Diarrhea, Vasculitis, Recurren... ORPHA:343
Hereditary Leiomyomatosis And Renal Cell Cancer
Uterine leiomyoma, Esophageal neoplasm, Multiple cutaneous leiomyomas, Cutaneous leiomyoma, Papil... ORPHA:523
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Amoebiasis Due To Entamoeba Histolytica
Acute colitis, Abdominal pain, Leukocytosis, Protracted diarrhea, Diarrhea, Anemia, Intestinal ob... ORPHA:67
Carney Triad
Gastrointestinal stroma tumor, Adrenocortical adenoma, Arrhythmia, Gastrointestinal hemorrhage, A... ORPHA:139411
Anemia, Hypochromic Microcytic, With Iron Overload 1
Hypochromia, Decreased mean corpuscular volume, Anemia OMIM:206100
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Ambiguous genitalia, Premature pubarche, Bifid scrotum, Male pseudohermaphroditism, Hypospadias, ... OMIM:201810
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Gynecomastia, Sparse axillary hair, Abnormal internal genitalia, Delayed puberty,... ORPHA:251510
46,Xx Gonadal Dysgenesis
Increased circulating gonadotropin level, Abnormality of secondary sexual hair, Streak ovary, Pri... ORPHA:243
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Cryptorchidism, Gynecomastia, Sparse axillary hair, Delayed puberty, Female external genitalia in... ORPHA:90796
Premature Ovarian Failure 8
Premature ovarian insufficiency, Increased circulating gonadotropin level, Ovarian neoplasm, Prim... OMIM:615723
Glycogen Storage Disease Iii
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Elevated circulating creatine kina... OMIM:232400
Ovarian Fibrothecoma
Abnormality of the ovary, Hirsutism, Fibrosarcoma, Abnormality of the endometrium, Metrorrhagia, ... ORPHA:314478
Premature Ovarian Failure 9
Increased circulating gonadotropin level, Premature ovarian insufficiency, Amenorrhea OMIM:615724
Tumor Predisposition Syndrome
Uveal melanoma, Cutaneous melanoma, Meningioma, Renal cell carcinoma, Lung adenocarcinoma OMIM:614327
Hemophilia A
Joint hemorrhage, Intraventricular hemorrhage, Gastrointestinal hemorrhage, Bleeding with minor o... ORPHA:98878
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Decreased circulating renin level, Adrenogenital syndrome, Hyperaldosteronism OMIM:103900
Eosinophilic Esophagitis
Esophageal stenosis, Spontaneous esophageal perforation, Dysphagia, Gastroesophageal reflux, Abno... ORPHA:73247
Acth-Independent Macronodular Adrenal Hyperplasia
Decreased circulating ACTH level, Increased circulating cortisol level, Primary hypercortisolism,... OMIM:219080
Huriez Syndrome
Nail dystrophy, Small nail, Squamous cell carcinoma of the skin OMIM:181600
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Myelodysplasia, Adenocarcinoma... ORPHA:124
Congenital Factor X Deficiency
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Prolonged bleedi... ORPHA:328
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Maffucci Syndrome
Neoplasm of the parathyroid gland, Goiter, Ovarian neoplasm, Chondrosarcoma, Hemangiomatosis, Mul... ORPHA:163634
Barrett Esophagus
Esophageal carcinoma, Esophageal ulceration, Gastroesophageal reflux, Barrett esophagus OMIM:614266
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Cholestasis, Jaundice... OMIM:617156
Hemophilia A With Vascular Abnormality
Persistent bleeding after trauma, Capillary fragility, Joint hemorrhage, Gastrointestinal hemorrh... OMIM:306800
Glucagonoma
Lack of bowel sounds, Adrenocortical adenoma, Elevated circulating growth hormone concentration, ... ORPHA:97280
46,Xy Sex Reversal 7
Gonadoblastoma, Sex reversal, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ... OMIM:233420
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Increased circulating cortisol level, Insulinoma, Pituitary thyrotrop... ORPHA:652
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Pulmonary embolism, Retinal telangiectasia, Cerebral hemorrhage, Pul... ORPHA:774
Hypogonadotropic Hypogonadism 25 With Anosmia
Cryptorchidism, Primary amenorrhea, Hypothalamic gonadotropin-releasing hormone deficiency, Decre... OMIM:618841
Obesity Due To Congenital Leptin Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:66628
Cerebellar Ataxia-Hypogonadism Syndrome
Gynecomastia, Hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility, Supernumerary nip... ORPHA:1173
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Immunodeficiency 61
Frequent Giardia lamblia infestation, Malabsorption, Colon cancer OMIM:300310
Wild Type Abeta2M Amyloidosis
Macroglossia, Arrhythmia, Gastrointestinal hemorrhage, Dysphagia, Intestinal pseudo-obstruction, ... ORPHA:85446
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Villous atrophy, Chronic diarrhea,... OMIM:304790
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Abnormality of the endocrine system, Breast hypoplasia OMIM:129550
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Premature ova... OMIM:618723
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Ebola Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Acute hepatic failure, Epistaxis,... ORPHA:319218
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic nipples, Hypogonadism, Sparse hair, Hypoplastic areola OMIM:273400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia ORPHA:71529
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Abdominal cramps, Abdomina... ORPHA:98850
Hemophilia B
Persistent bleeding after trauma, Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage OMIM:306900
Ovarian Fibroma
Basal cell carcinoma, Abnormality of the ovary, Odontogenic keratocysts of the jaw, Gonadal calci... ORPHA:314473
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Hyperinsulinemia, Breast hypoplasia, Absence of seconda... ORPHA:785
Analbuminemia
Elevated circulating transferrin concentration, Hypercholesterolemia, Increased LDL cholesterol c... OMIM:616000
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, B lymphocytopenia, Abscess OMIM:612260
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly ORPHA:294
Lcat Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly ORPHA:650
Liver Failure, Infantile, Transient
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hyperbilirubinemia, Acute hepati... OMIM:613070
Cidec-Related Familial Partial Lipodystrophy
Hepatic steatosis, Hepatomegaly, Hypertriglyceridemia, Pancreatitis, Hyperlipidemia ORPHA:435651
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Familial Colorectal Cancer Type X
Basal cell carcinoma, Gastrointestinal hemorrhage, Benign neoplasm of the central nervous system,... ORPHA:440437
Acrorenal-Mandibular Syndrome
Absent nipple, Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Abnormality of the breast OMIM:200980
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Elevated hepatic transaminase, Abnormal circulating acetylcarnitine c... ORPHA:71212
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Hirsutism, Primary hypercortisolism, Increased body weight,... OMIM:615830
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia OMIM:617885
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Esophageal varix, Pancytopenia, Retinal telangiectasia, Portal hyper... OMIM:617341
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum leptin, Hyperinsulinemia, Hypergonadotropic hypogonadism, Absence of secondary se... ORPHA:179494
Refractory Anemia
Abnormal bleeding, Myelodysplasia, Erythroid hypoplasia, Single lineage myelodysplasia, Abnormal ... ORPHA:98826
Malignant Atrophic Papulosis
Gastrointestinal infarctions, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased proportion of... OMIM:615513
Immunodeficiency 17
Autoimmune hemolytic anemia, Abnormal intestine morphology, Decreased proportion of CD8-positive ... OMIM:615607
Pancreatic Cancer, Susceptibility To, 5
Pancreatic adenocarcinoma, Melanoma OMIM:618680
Caroli Syndrome
Abnormal bleeding, Hematemesis, Leukocytosis, Abdominal pain, Conjugated hyperbilirubinemia, Hype... ORPHA:480520
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma OMIM:603776
Mismatch Repair Cancer Syndrome 3
Lisch nodules, Neoplasm of the rectum, Glioblastoma multiforme, Lymphoma, T-cell lymphoma, Astroc... OMIM:619097
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hamartomatous polyposis, Hematochezia, Epistaxis, Gastrointestinal carcinoma, Juvenile gastrointe... OMIM:175050
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Cutaneous abscess, Decreased proportion of C... OMIM:618204
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Autoimmune Polyendocrinopathy Type 1
Increased circulating cortisol level, Abnormal calcium-phosphate regulating hormone level, Primar... ORPHA:3453
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilater... ORPHA:52901
Familial Hyperaldosteronism Type I
Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Increase... ORPHA:766
Dengue Fever
Gastrointestinal hemorrhage, Abdominal pain, Hypotension, Epistaxis, Thrombocytopenia, Petechiae,... ORPHA:99828
Retinoblastoma
Retinoblastoma, Glioma, Lymphoma, Leiomyosarcoma, Osteosarcoma, Rhabdomyosarcoma, Leukemia, Pineo... ORPHA:790
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Trichorrhexis nodosa, Sparse hair, Chronic diarrhea, Tiger tail banding, Br... OMIM:601675
Chronic Intestinal Pseudoobstruction
Abnormal intestine morphology, Pyloric stenosis, Intestinal malrotation ORPHA:2978
Combined Deficiency Of Factor V And Factor Viii
Prolonged bleeding after surgery, Joint hemorrhage, Gastrointestinal hemorrhage, Bleeding with mi... ORPHA:35909
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Prolonged bleeding after surgery, Prolonged bleeding time, Join... OMIM:193400
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Frasier Syndrome
Increased circulating gonadotropin level, Ambiguous genitalia, male, Gonadoblastoma, Hypergonadot... ORPHA:347
Mullerian Aplasia And Hyperandrogenism
Amenorrhea, Aplasia of the vagina, Hirsutism, Aplasia/Hypoplasia of the fallopian tube, Aplasia o... OMIM:158330
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Spontaneous hematomas, Epistaxis, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Isolated Polycystic Liver Disease
Gastrointestinal hemorrhage, Abdominal pain, Gastroesophageal reflux, Feeding difficulties in inf... ORPHA:2924
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis OMIM:608600
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Macroglossia, Protruding tongue, Reduced natural killer cell count, Malabsorption OMIM:242860
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Acute Erythroid Leukemia
Erythroid hypoplasia, Refractory anemia with ringed sideroblasts, Pancytopenia, Leukopenia, Anemia ORPHA:318
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Oligodontia-Colorectal Cancer Syndrome
Fundic gland polyposis, Short eyelashes, Sparse axillary hair, Absent eyebrow, Sparse scalp hair,... OMIM:608615
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Sparse hair, Absent pubic hair, Absent axillary hair, Hypoplastic nipples, Distichiasis, Labial h... OMIM:211370
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection, T lymphocytopenia, Absent natural killer ... OMIM:600802
Congenital Bile Acid Synthesis Defect Type 3
Hepatic failure, Gastrointestinal hemorrhage, Splenomegaly ORPHA:79302
Becker Nevus Syndrome
Hamartoma, Abnormality of the scrotum, Hypoplastic labia minora, Aplasia/Hypoplasia of the breast... ORPHA:64755
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Partial vaginal septum, Dyspareunia, Abnormality of the uterine cervix, Metrorrhagia... ORPHA:3411
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatoce... ORPHA:247585
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cryptorchidism, Hemangioma, Protuberant abdomen, Curly hair, Lactose intolerance, Intestinal polyp ORPHA:457485
Choroidal Atrophy-Alopecia Syndrome
Sparse hair, Ungual fibroma, Sparse or absent eyelashes, Supernumerary nipple, Fine hair ORPHA:1433
Waardenburg Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Premature graying of hair, Abnormality of ... ORPHA:3440
Autosomal Dominant Spastic Paraplegia Type 29
Hiatus hernia, Abnormal rectum morphology ORPHA:101009
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Elevated circulating creatine kin... OMIM:255120
Alpha-Heavy Chain Disease
Abdominal pain, Lymphoma, Alopecia, Splenomegaly, Anemia, Abnormality of the small intestine, Mal... ORPHA:100025
Porokeratosis
Squamous cell carcinoma of the skin ORPHA:79358
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... ORPHA:2442
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Cleft palate, Bifid uvula, High palate OMIM:616222
Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma OMIM:144010
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated hepatic transaminase, Hepatic steatosis, Postnatal growth retardation, Decreased liver f... OMIM:617093
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Clitoral hypertrophy, Spontaneous abortion, Inc... ORPHA:96181
Mandibuloacral Dysplasia
Hypercholesterolemia, Abnormal tongue morphology, Hypertriglyceridemia, Increased circulating fre... ORPHA:2457
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hyperuricemia, Hyperlipidemia ORPHA:364
Dysplasia Epiphysealis Hemimelica With Chondromas And Osteochondromas
Osteochondroma OMIM:127820
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Urogenital sinus anomaly, Vanishing testis, Decre... OMIM:273250
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Decreased plasma ... OMIM:619048
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 47
Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Prolonged neonatal jau... OMIM:300972
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hepatic steatosis, Hypertriglyceridemia, Hypoalbuminemia, Hepatosp... OMIM:619013
Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Endometrial carcinoma, Ovarian neoplasm, Hereditary nonpolyposis colorectal carcinoma OMIM:614337
Leiomyoma Of Vulva And Esophagus
Esophageal obstruction OMIM:150700
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Gastrointestinal arteriovenous malformation, Lip telangiectasia, Gas... OMIM:600376
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Igg4-Related Aortitis
Hypereosinophilia, Intestinal obstruction, Abdominal pain ORPHA:449400
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Visceral angiomatosis, ... ORPHA:296
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Pancreatitis OMIM:606721
Estrogen Resistance
Hypoplasia of the uterus, Hyperinsulinemia, Primary amenorrhea OMIM:615363
Gracile Syndrome
Increased circulating ferritin concentration, Cirrhosis, Decreased transferrin saturation, Hepati... ORPHA:53693
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Rudiger Syndrome
Ovarian cyst, Bicornuate uterus, Micropenis OMIM:268650
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Crimean-Congo Hemorrhagic Fever
Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Epistaxis, Thrombocytopenia, Pete... ORPHA:99827
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Precocious puberty, Polycystic ovaries ORPHA:2229
Polycystic Ovary Syndrome 1
Amenorrhea, Oligomenorrhea, Hirsutism, Enlarged polycystic ovaries, Obesity OMIM:184700
Eosinophilic Granulomatosis With Polyangiitis
Purpura, Abdominal pain, Dysphagia, Gastroesophageal reflux, Recurrent intrapulmonary hemorrhage,... ORPHA:183
Pgm3-Cdg
Esophagitis, T lymphocytopenia, Cutaneous abscess, Abnormal CD4:CD8 ratio, Hemolytic anemia, Decr... ORPHA:443811
Chylomicron Retention Disease
Elevated hepatic transaminase, Hepatic steatosis, Increased hepatocellular lipid droplets, Steato... ORPHA:71
Lipodystrophy, Familial Partial, Type 3
Cirrhosis, Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Decreased HDL cholesterol conc... OMIM:604367
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH level, Increased circulating cortiso... OMIM:615954
Retinal Dystrophy With Or Without Extraocular Anomalies
Secondary amenorrhea, Goiter, Premature ovarian insufficiency OMIM:617175
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Decreased proportion of CD4-positive h... OMIM:300853
Premature Ovarian Failure 17
Elevated circulating luteinizing hormone level, Decreased antimullerian hormone level, Decreased ... OMIM:619146
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Hepatic steatosis ORPHA:26792
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Basal cell carcinoma, Sparse eyebrow, Sparse hair, Premature graying of hair, Abs... OMIM:268400
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Increased circulating prolactin concentration,... OMIM:174800
Primary Sclerosing Cholangitis