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Gene: Apc MGI:88039

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

Order Alleles

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.

Human diseases associated with Apc (12 diseases)
Human diseases predicted to be associated with Apc (1407 diseases)

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

Disease	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	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
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Giant cell hepatitis, Hematochezia, Cholestatic liver disease, Cho...	ORPHA:79095
Rift Valley Fever	Abnormal bleeding, Anorexia, Hematemesis, Retinal hemorrhage, Melena, Anemia, Gingival bleeding, ...	ORPHA:319251
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Sparse or absent eyela...	ORPHA:221008
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophi...	OMIM:243700
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea	OMIM:184700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	High palate, Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess	OMIM:619752
Lynch Syndrome 5	Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet...	OMIM:614350
Pgm3-Cdg	Lactose intolerance, Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia,...	ORPHA:443811
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Portal hypertension, Hypersplenism, Thrombocytope...	ORPHA:64743
Androgen Insensitivity Syndrome	Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ...	OMIM:300068
Abdominal Obesity-Metabolic Syndrome 4	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:618620
Pudendal Neuralgia	Abdominal colic, Anal canal adenocarcinoma, Genital neoplasm, Neoplasm of the genitourinary tract...	ORPHA:60039
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis	ORPHA:26792
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Fanconi Anemia, Complementation Group G	Myelodysplasia, Thrombocytopenia, Neutropenia, Leukemia, Anemia	OMIM:614082
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:26793
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Small for gestational age, Thin eyebrow, Supernumerary nipple	OMIM:617635
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ...	OMIM:604367
46,Xy Complete Gonadal Dysgenesis	Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit...	ORPHA:444463
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Sparse or ab...	ORPHA:221016
Castleman Disease	Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal obstruction, Abdominal...	ORPHA:160
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Myelodysplasia	OMIM:300448
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis	ORPHA:435651
Zygomycosis	Unusual gastrointestinal infection, Colitis, Vomiting, Neutropenia, Nausea, Abdominal pain, Hemat...	ORPHA:73263
Complete Androgen Insensitivity Syndrome	Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho...	ORPHA:99429
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat...	OMIM:617872
Congenital Bile Acid Synthesis Defect Type 2	Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ...	ORPHA:79303
Cowden Syndrome 1	Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ...	OMIM:158350
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Bruising susceptibility, Joint hemorrhage	OMIM:605735
Benign Schwannoma	Intestinal polyposis, Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannom...	ORPHA:252164
Ulnar-Mammary Syndrome	Hypoplasia of penis, Cryptorchidism, Decreased fertility, Obesity, Breast aplasia, Hypoplastic ni...	ORPHA:3138
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary cent...	OMIM:616202
Testicular Agenesis	Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist...	ORPHA:325124
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Alopecia, Paradoxical increased cortisol secretion on dexametha...	ORPHA:189427
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut...	ORPHA:2232
Choroidal Atrophy-Alopecia Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Sparse hair, Ungual fi...	ORPHA:1433
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Cowden Syndrome 6	Colonic diverticula, Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Furrowed ...	OMIM:615109
Hemochromatosis, Type 4	Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr...	OMIM:606069
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina...	OMIM:619386
Immunodeficiency 43	Lung abscess, B lymphocytopenia, Reduced natural killer cell count	OMIM:241600
Dysbetalipoproteinemia	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	ORPHA:412
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anemia	OMIM:611283
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Diarrhea, Protein-losing enteropathy, Vomiting,...	ORPHA:79319
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Cowden Syndrome 5	Colonic diverticula, Subcutaneous lipoma, Breast carcinoma, Furrowed tongue, Hamartomatous polypo...	OMIM:615108
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Rudiger Syndrome	Ovarian cyst, Micropenis, Bicornuate uterus	OMIM:268650
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Supernumerary nipple	OMIM:619243
Barber-Say Syndrome	Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Failure to thrive...	ORPHA:1231
Hidrotic Ectodermal Dysplasia, Halal Type	Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation...	ORPHA:1809
Familial Chylomicronemia Syndrome	Acute pancreatitis, Hypertriglyceridemia, Perianal abscess, Jaundice, Hyperlipidemia, Hepatosplen...	ORPHA:444490
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ...	OMIM:228300
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Splenomegaly, Diarrhea, C...	ORPHA:99745
Congenital Disorder Of Glycosylation, Type Iir	Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi...	OMIM:301045
Cog4-Cdg	Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp...	ORPHA:263501
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Neoplasm of head and neck, Papillary renal cell carcinoma, Papillar...	ORPHA:319487
Mucoepithelial Dysplasia, Hereditary	Eosinophilia, Chronic diarrhea, Furrowed tongue, Melena, Corneal neovascularization	OMIM:158310
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Chronic gastritis, Perianal abscess, Iron deficiency anemia, Inflammation of the large intestine,...	OMIM:301074
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Tetragametic Chimerism	Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality...	ORPHA:199310
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Petechiae, Eosinophilia, Autoimmune thr...	OMIM:603909
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis	ORPHA:363400
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Eosinophilia, Acute monocytic leukemia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Joint hemorrhage, Prolonged bleeding...	ORPHA:465
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Follicular hyperplasia, Autoimmune thromboc...	OMIM:619846
Tangier Disease	Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c...	OMIM:205400
Bile Acid Synthesis Defect, Congenital, 1	Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,...	OMIM:607765
Fontaine Progeroid Syndrome	Sparse scalp hair, Small scrotum, Absent nipple, Small for gestational age, Cryptorchidism, Synop...	OMIM:612289
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Microcytic anemia, Cong...	ORPHA:90308
Fibrous Dysplasia Of Bone	Testicular neoplasm, Elevated circulating growth hormone concentration, Cutaneous myxoma, Ovarian...	ORPHA:249
Combined Immunodeficiency, X-Linked	Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells	OMIM:312863
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis...	OMIM:620186
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, External genital hypoplasia, Obesity, Vaginal atresia	OMIM:605231
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Myelodysplasia, Microcytic anemia, Hypersplenism, Splenome...	ORPHA:846
Chylomicron Retention Disease	Accumulation of lipid droplets in small-bowel enterocytes, Decreased LDL cholesterol concentratio...	OMIM:246700
Immunodeficiency 69	Pancytopenia, Splenomegaly, Leukocytosis, Diarrhea, Increased circulating ferritin concentration,...	OMIM:618963
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Baller-Gerold Syndrome	Lymphoma, Osteosarcoma	ORPHA:1225
Scarf Syndrome	Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Perineal hypospadias, Low posterior ...	ORPHA:3134
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating alanine a...	OMIM:615381
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:264580
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Myelodysplasia, Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, ...	ORPHA:231401
Fowler Urethral Sphincter Dysfunction Syndrome	Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea	ORPHA:2795
Bile Acid Malabsorption, Primary, 2	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:619481
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Afibrinogenemia, Congenital	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Hematemesis, Splenic rupture, Prolonged bleedi...	OMIM:202400
Congenital Generalized Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Macroglossia, Cirrhosis, Hypercholesterolemia, Hepatic steato...	ORPHA:528
Bardet-Biedl Syndrome	Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ov...	ORPHA:110
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Gastrointestinal stro...	OMIM:115310
Rhabdoid Tumor	Nausea and vomiting, Renal neoplasm, Hypercalcemia, Poor appetite, Abdominal pain, Thrombocytopen...	ORPHA:69077
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea	OMIM:277000
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa...	OMIM:267700
Satoyoshi Syndrome	Hypoplasia of the uterus, Alopecia, Alopecia universalis, Amenorrhea	OMIM:600705
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Fanconi-Bickel Syndrome	Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration...	ORPHA:2088
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Cystic Fibrosis	Meconium ileus, Rectal prolapse, Ileus, Diarrhea, Hepatosplenomegaly, Steatorrhea, Exocrine pancr...	OMIM:219700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Nephrotic Syndrome, Type 1	Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia	OMIM:256300
Triokinase And Fmn Cyclase Deficiency Syndrome	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbuminemia, Hepat...	OMIM:618805
Erythrocytosis, Familial, 1	Myocardial infarction, Cerebral hemorrhage, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Autoimmune thrombocytopenia, Abnormal erythrocyte morphol...	ORPHA:324636
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Normocytic anemia, Epistaxis, Abnormality of neutrophils, Malabsorpt...	ORPHA:33226
46,Xx Ovotesticular Difference Of Sex Development	Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H...	ORPHA:2138
Pyloric Stenosis, Infantile Hypertrophic, 1	Pyloric stenosis, Projectile vomiting	OMIM:179010
Branchioskeletogenital Syndrome	Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Micropenis, Penoscrot...	ORPHA:1299
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce...	ORPHA:435660
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Atrophic gastritis, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, ...	OMIM:615846
Sanjad-Sakati Syndrome	Hypoparathyroidism, Cryptorchidism, Intestinal obstruction, Congenital hypoparathyroidism	ORPHA:2323
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Intestinal lymphangie...	OMIM:235510
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cachexia, Cryptor...	ORPHA:217346
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Normocytic anemia, Pancytopenia, Abnormal bleeding, Myelodysplasia, Anemi...	ORPHA:75564
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79405
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia, High palate	ORPHA:254531
Inflammatory Bowel Disease (Crohn Disease) 30	Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Protein-los...	OMIM:619079
46,Xx Sex Reversal 2	Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu...	OMIM:278850
Porphyria, Acute Intermittent	Tachycardia, Abdominal pain, Diarrhea, Paralytic ileus, Hypertension, Vomiting, Constipation, Hep...	OMIM:176000
Familial Mediterranean Fever	Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Malabsorption, Orchitis, Sple...	ORPHA:342
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Refractory anemia, Myelodysplasia, Lymphoma, Leukopenia, Monocytosis	OMIM:616871
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li...	ORPHA:567548
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Temple Syndrome	Hypertriglyceridemia, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula	OMIM:616222
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Abnormality of the spleen, Diarrhea, Malnutrition, V...	ORPHA:79456
Woods Syndrome	Frontal hirsutism, Supernumerary nipple	OMIM:615236
Trimethylaminuria	Tachycardia, Splenomegaly, Hypertension, Neutropenia, Anemia	OMIM:602079
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Bicornuate uterus	OMIM:601076
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Cleft palate, Acute lym...	ORPHA:1052
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst...	OMIM:106260
Limb-Mammary Syndrome	Hypoplastic nipples	OMIM:603543
Griscelli Syndrome Type 2	Splenomegaly, Hepatomegaly, Jaundice, Hyperlipidemia	ORPHA:79477
Monosomy 13Q34	Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Hepatic steatosis	ORPHA:96168
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Diarrhea, Schistocytosis, Elevated circulating creatinine concentration, Hyperli...	OMIM:235400
Malaria	Nausea and vomiting, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyp...	ORPHA:673
Vaginal Atresia	Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Primary amenorrhea, ...	ORPHA:65681
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Galactokinase Deficiency	Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyp...	ORPHA:79237
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:600649
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ...	OMIM:264470
Cowden Syndrome	Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma...	ORPHA:201
Porphyria Variegata	Abdominal pain, Ileus, Constipation, Hepatocellular carcinoma, Nausea, Anemia, Hypertrichosis	ORPHA:79473
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Neoplasm, Meningioma	ORPHA:353281
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Anencephaly, Micrognathia	OMIM:614120
Seckel Syndrome 7	Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism	OMIM:614851
Carney Complex	Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le...	ORPHA:1359
Carnitine Palmitoyl Transferase 1A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia	ORPHA:156
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Cryptorchidism, Hemangioma, Hypoplastic nipples	OMIM:618505
Shigellosis	Anorexia, Intestinal perforation, Bloody diarrhea, Paralytic ileus, Hypovolemic shock, Vomiting, ...	ORPHA:810
Scarf Syndrome	Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low anterior hairline, Perineal hypo...	OMIM:312830
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Synophrys, Supernumerary nipple	OMIM:616083
Meconium Ileus	Chronic diarrhea, Microcolon, Meconium ileus	OMIM:614665
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Increased hepatic g...	OMIM:261750
Nephronophthisis	Anemia	ORPHA:655
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly, Acrania, Micrognathia	OMIM:618820
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Petechiae, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anem...	OMIM:187800
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Abnormal thymus morphol...	OMIM:611926
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increa...	ORPHA:540
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Early balding, Adenomatous colonic polyposis, Desmoid tumors, Low posterior h...	ORPHA:261584
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Infantile Liver Failure Syndrome 3	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole...	OMIM:618641
Al Amyloidosis	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Abnormal EKG, Postural hy...	ORPHA:85443
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop...	OMIM:618986
X-Linked Creatine Transporter Deficiency	Constipation, Ileus, Aganglionic megacolon	ORPHA:52503
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ...	OMIM:615925
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple	ORPHA:3224
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Anemia	OMIM:617408
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp...	ORPHA:169154
Dystonia 31	Abnormal posturing	OMIM:619565
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79406
Acces Syndrome	Sparse scalp hair, Failure to thrive, Supernumerary nipple	OMIM:619959
Aromatase Deficiency	Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism	OMIM:613546
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Micrognathia	OMIM:617562
Diarrhea 10, Protein-Losing Enteropathy Type	Cryptorchidism, Secretory diarrhea, Feeding difficulties, Hematochezia, Protein-losing enteropathy	OMIM:618183
Hermansky-Pudlak Syndrome 2	Hepatomegaly, Absent platelet dense granules, Splenomegaly, Hepatosplenomegaly, Gastroesophageal ...	OMIM:608233
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Lymphangiectasia, Intestinal	Intestinal lymphangiectasia, Lymphopenia, Malabsorption	OMIM:152800
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Alopecia, Gastritis, Malabsorption, Autoimmune thrombocytopenia, Spl...	ORPHA:37042
Aicardi Syndrome	Intestinal polyposis, Hiatus hernia, Malabsorption, Feeding difficulties in infancy, Cleft palate...	ORPHA:50
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H...	OMIM:263400
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Anteriorly placed anus, Abnormal midbrain morphology, Ethmoidal encephalo...	ORPHA:280195
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	ORPHA:79240
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Bardet-Biedl Syndrome 12	Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity	OMIM:615989
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production	OMIM:603529
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Cystic Fibrosis	Meconium ileus, Malabsorption, Rectal prolapse, Gastroesophageal reflux, Steatorrhea, Exocrine pa...	ORPHA:586
Congenital Macroglossia	Macroglossia, Neurofibroma, Abnormal hepatic glycogen storage	ORPHA:2430
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Pyloric stenosis, Rectal prolapse, Feeding difficulties, Hypoplasia of the thym...	OMIM:613177
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Familial Pancreatic Carcinoma	Nausea and vomiting, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Functional intesti...	ORPHA:1333
Tetrasomy 9P	Cryptorchidism, Pilomatrixoma, Absent gallbladder	ORPHA:3310
Methanol Poisoning	Myocardial infarction, Abdominal pain, Cerebral hemorrhage, Permanent atrial fibrillation, Inflam...	ORPHA:31825
Neutral Lipid Storage Disease With Ichthyosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Micronodular ci...	ORPHA:98907
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia	OMIM:617827
Camptobrachydactyly	Septate vagina	ORPHA:1319
Reticular Dysgenesis	Abnormality of neutrophils, Malabsorption, Diarrhea, Leukopenia, Anemia	ORPHA:33355
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Chronic diarrhea, Leukopenia, Neutr...	OMIM:615285
Combined Immunodeficiency Due To Dock8 Deficiency	T lymphocytopenia, B lymphocytopenia, Anal canal squamous carcinoma	ORPHA:217390
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Intestinal obstruction, Abdominal pain, Orchitis, Splenomegaly, Peritonitis, Diarrhea, Leukocytos...	ORPHA:32960
Martin-Probst Syndrome	Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Chordee, Hypoplastic nipples, Microp...	OMIM:300519
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Pancytopenia, Sp...	OMIM:603553
Pparg-Related Familial Partial Lipodystrophy	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa...	ORPHA:79083
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level	OMIM:610768
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Hype...	OMIM:201475
Meckel Syndrome, Type 4	Encephalocele, Atrial septal defect, Ventricular septal defect, Hydrocephalus, Meningocele, Anenc...	OMIM:611134
Atypical Werner Syndrome	Abnormal hair quantity, Renal neoplasm, Alopecia, Abnormal hair morphology, Abnormal hair whorl, ...	ORPHA:79474
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Myelodysplasia, Cryptorchidism, Premature graying of hair, Squamous cell carcinoma of the skin, N...	OMIM:620365
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Tyshchenko Syndrome	Cryptorchidism, Low anterior hairline, Thick hair, Supernumerary nipple	OMIM:615102
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Prolonged bleeding time, Increased RBC distribution width, Epi...	OMIM:314050
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase...	OMIM:614300
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia	OMIM:613559
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant...	ORPHA:90301
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Nail dystrophy, Cut...	ORPHA:79411
20Q13.33 Microdeletion Syndrome	Hematochezia, Highly arched eyebrow	ORPHA:261311
Familial Partial Lipodystrophy, Dunnigan Type	Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis	ORPHA:2348
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose...	ORPHA:91348
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Arrhythmia, Bruising susceptibility	ORPHA:230839
Denys-Drash Syndrome	True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g...	OMIM:194080
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph...	ORPHA:331206
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib...	ORPHA:52901
Acute Myelomonocytic Leukemia	Abnormal bleeding, Eosinophilia, Leukocytosis, Anemia, Thrombocytopenia	ORPHA:517
Sialuria	Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism, Hirsutism	OMIM:269921
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Malabsorption, Anorexia, Spleno...	ORPHA:3452
Hemophagocytic Syndrome Associated With An Infection	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, In...	ORPHA:158048
Dohle Bodies And Leukemia	Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia	OMIM:223350
Smith-Magenis Syndrome	Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia	OMIM:182290
Nablus Mask-Like Facial Syndrome	Wide intermamillary distance, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorc...	OMIM:608156
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Hemolytic anemia, Prolonged bleeding time, Pericarditis, Gastritis, ...	ORPHA:809
Schinzel-Giedion Midface Retraction Syndrome	Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f...	OMIM:269150
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
Xeroderma Pigmentosum, Complementation Group E	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	OMIM:278740
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy...	ORPHA:99889
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, Synophrys, Ileus, High palate	OMIM:620156
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Pyloric stenosis, Cleft palate, High palate, Hypercholesterolemia, Bifid uvula	ORPHA:96184
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Hypospadias, Small for gestational age, Supernumerary nipple, Facial capillary hemangioma, Low an...	OMIM:604314
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Highly arched eyebrow, Cleft palate, Feeding difficulties, Anteriorly plac...	OMIM:239300
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Anemia of inadequate production, Acanthocytosis, Poikilocytosis, Bruising susceptibili...	OMIM:300367
Camptobrachydactyly	Septate vagina	OMIM:114150
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Trichiasis, Pilomatrixoma, Cryptorchidism, Hydrocele testis, Meningioma	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Trichiasis, Pilomatrixoma, Cryptorchidism, Hydrocele testis, Meningioma	ORPHA:353277
Hydrops Fetalis, Nonimmune	Congestive heart failure, Anemia	OMIM:236750
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Septate vagina, Uterus didelphys, Primary amenorrhea, Aplasia of the vagina, ...	OMIM:146255
Bone Marrow Failure Syndrome 6	Squamous cell carcinoma of the tongue, Persistence of hemoglobin F, Increased mean corpuscular vo...	OMIM:618849
Autoimmune Hepatitis	Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea...	ORPHA:2137
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Porphyria Cutanea Tarda	Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep...	ORPHA:101330
Ataxia-Pancytopenia Syndrome	Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Neutropenia, Hypoplastic anemia, A...	OMIM:159550
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Nephrotic Syndrome, Type 11	Hypercholesterolemia, High palate, Hypoalbuminemia, Cleft palate	OMIM:616730
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Abdominal pain, Splenomegaly, Vasculitis, Gastrointestinal infarctio...	ORPHA:91138
Oculocutaneous Albinism Type 1B	Hypopigmentation of hair, Albinism, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of th...	ORPHA:79434
Esophageal Ring, Lower	Dysphagia, Hiatus hernia	OMIM:133240
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Apla...	ORPHA:1521
Liver Failure, Infantile, Transient	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:613070
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Anemia, Pulmonary embolism	OMIM:614514
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonar...	ORPHA:900
Ulnar-Mammary Syndrome	Inverted nipples, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Spar...	OMIM:181450
Microtriplication 11Q24.1	Hyperlipidemia, Cleft palate	ORPHA:289522
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Frontal bossing	ORPHA:166024
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:42
Xeroderma Pigmentosum, Complementation Group C	Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:278720
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t...	ORPHA:3464
Fanconi Anemia, Complementation Group O	Cryptorchidism, Rectal atresia, Anal atresia	OMIM:613390
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Hypoplasia of the ...	OMIM:300400
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Wolman Disease	Nausea and vomiting, Bone-marrow foam cells, Splenomegaly, Abdominal distention, Malnutrition, Es...	ORPHA:75233
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto...	ORPHA:67044
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con...	ORPHA:79086
Immunodeficiency 17	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn...	OMIM:615607
Neurofibroma	Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur...	ORPHA:252183
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Anemia, Congenital Dyserythropoietic, Type Ib	Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery...	OMIM:615631
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto...	OMIM:251880
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent...	OMIM:616860
Immunodeficiency 70	Celiac disease, Colitis, B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:618969
Refractory Celiac Disease	Normocytic anemia, Villous atrophy, Macrocytic anemia, Malabsorption, Microcytic anemia, Abdomina...	ORPHA:398063
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ...	OMIM:613327
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Spontaneous esophageal perforation, Alopecia, Esophageal stricture, Malnutrition, Squamous cell c...	OMIM:226600
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:212140
Recessive Dystrophic Epidermolysis Bullosa Inversa	Esophageal stricture, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinom...	ORPHA:79409
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Developmental And Epileptic Encephalopathy 51	Failure to thrive, Supernumerary nipple	OMIM:617339
Immunodeficiency 47	Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Decreased circulating copper conce...	OMIM:300972
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Abnormal bleeding, Hypopigmentation of hair, Epistaxis, Anorexia, Ma...	ORPHA:79430
Blepharophimosis, Ptosis, And Epicanthus Inversus	Premature ovarian insufficiency, Highly arched eyebrow, Female infertility, Sparse pubic hair, In...	OMIM:110100
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Hepatic steatosis, Pancreatitis	ORPHA:79084
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Low plasma citrulline,...	OMIM:261680
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Myelodysplasia, Osteosarcoma	OMIM:105650
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
10Q22.3Q23.3 Microdeletion Syndrome	Intestinal polyposis, Breast aplasia	ORPHA:276413
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Gastrointestinal stroma tumor, Splenomegaly, Lymph...	ORPHA:1572
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abdominal pain, Spl...	ORPHA:163746
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Constipation, Vomiting	OMIM:300352
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Epistaxis, Abdominal pain, Conges...	ORPHA:727
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Cleft palate, Lobulated tongue, Molar tooth s...	OMIM:614815
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Chronic diarrhea, Chronic constipation, Vomiting	OMIM:142680
Immunodeficiency 82 With Systemic Inflammation	Villous atrophy, Decreased proportion of naive T cells, Duodenal ulcer, Gastritis, Follicular hyp...	OMIM:619381
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Hemochromatosis, Type 2B	Splenomegaly, Increased circulating ferritin concentration, Congestive heart failure, Elevated tr...	OMIM:613313
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ma...	ORPHA:537
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Woodhouse-Sakati Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Diabete...	OMIM:241080
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Skin Creases, Congenital Symmetric Circumferential, 1	Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples	OMIM:156610
Anemia, Sideroblastic, 1	Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ...	OMIM:300751
Intellectual Developmental Disorder, Autosomal Recessive 65	Cryptorchidism, Hypospadias, Supernumerary nipple	OMIM:618109
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Intr...	OMIM:617093
Diamond-Blackfan Anemia 9	Anemia, Webbed neck	OMIM:613308
Sitosterolemia 1	Abnormal bleeding, Reticulocytosis, Hyperapobetalipoproteinemia, Abdominal pain, Thrombocytopenia...	OMIM:210250
Pancreatic Colipase Deficiency	Megaloblastic anemia, Chronic diarrhea, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine ...	ORPHA:309108
Joubert Syndrome 10	Molar tooth sign on MRI, Frontal bossing	OMIM:300804
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Hepat...	OMIM:619573
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:228308
Anemia, Hypochromic Microcytic, With Iron Overload 2	Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr...	OMIM:615234
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Myelodysplasia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Leukemia, Micropenis	OMIM:619951
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen...	OMIM:154230
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Increased hematocrit, Hemangioma, Polycythemia	ORPHA:284227
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Immunodeficiency 40	Rectal fistula, Chronic diarrhea, T lymphocytopenia, Intermittent diarrhea, Focal active colitis,...	OMIM:616433
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Pancytopenia, Aplastic anemia, Myelodysplasia, Premature graying of hair, Gastroesophageal reflux...	OMIM:614742
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI	OMIM:614465
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Lysosomal Acid Lipase Deficiency	Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia...	ORPHA:275761
Filippi Syndrome	Cryptorchidism, Supernumerary nipple	ORPHA:3255
Infantile Liver Failure Syndrome 1	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Macrocytic anemia, Hepatic st...	OMIM:615438
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Cryptorchidism, Micropenis, Supernumerary nipple, Congenital hypothyroidism	ORPHA:2519
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Abnormality of neutrophi...	ORPHA:36426
Rapp-Hodgkin Syndrome	Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair...	OMIM:129400
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Formiminoglutamic Aciduria	Abnormal circulating histidine concentration, Anemia, Megaloblastic anemia	ORPHA:51208
Pachydermoperiostosis	Gastrointestinal hemorrhage, Abnormal hair quantity, Peptic ulcer, Elevated circulating growth ho...	ORPHA:2796
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated hepatic transaminase, Abnormality of the gastrointestinal tract, Small intestinal dysmot...	ORPHA:298
Cushing Disease	Increased urinary cortisol level, Sparse scalp hair, Adrenal hyperplasia, Diabetes mellitus, Para...	ORPHA:96253
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, High, narrow palate, Chronic constipation, Feeding difficulties	OMIM:619575
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Osteochondroma	OMIM:610474
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, High, narrow palate, Retinal h...	OMIM:177850
Hemochromatosis, Type 3	Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In...	OMIM:604250
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the uterus, Vaginal atresia	OMIM:617914
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Duodenal atresia, Anemia, Intestinal atresia	ORPHA:3405
Czeizel-Losonci Syndrome	Wide intermamillary distance, Hypoplastic nipples	ORPHA:2437
Lipodystrophy, Familial Partial, Type 2	Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ...	OMIM:151660
Seckel Syndrome 10	Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate...	OMIM:617253
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node...	ORPHA:79124
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, X...	OMIM:232220
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Gastrostomy tube feeding in infancy, Oral-pharyngeal dysphagia	ORPHA:254930
Immunodeficiency 46	Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Meckel Syndrome 12	Hypoplasia of the uterus, Vaginal atresia	OMIM:616258
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline, Micropenis	OMIM:618929
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg...	OMIM:619418
Incontinentia Pigmenti	Alopecia, Supernumerary nipple, Fine hair, Coarse hair, Breast aplasia, Hypoplastic nipples, Nail...	OMIM:308300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ...	ORPHA:2237
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal bleeding, Abnormal circulating protein concentration, Single lin...	ORPHA:86839
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Raynaud phenomenon, Punctate vasculitis skin lesi...	ORPHA:247691
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ...	OMIM:615866
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Thick hair, Pyloric stenosis, Gastroin...	ORPHA:363705
Alstrom Syndrome	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act...	OMIM:203800
Chronic Visceral Acid Sphingomyelinase Deficiency	Hepatomegaly, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, ...	ORPHA:77293
Simple Cryoglobulinemia	Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, B-cell lymp...	ORPHA:91139
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Abnormal T cell subset distribution, B lymphocytopenia, Gastroesophageal reflux, Decreased propor...	ORPHA:221139
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Acromesomelic Dysplasia 3	Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:609441
Mckusick-Kaufman Syndrome	Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal ...	OMIM:236700
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu...	OMIM:604292
Van Maldergem Syndrome 2	Bifid scrotum, Hypospadias, Cryptorchidism, High anterior hairline, Hypoplastic nipples, Micropenis	OMIM:615546
Intussusception	Intussusception	OMIM:147710
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Rectal prolapse, Pseudohypoparathyroidism, Feeding difficulties, Gastroesophageal reflux, High pa...	OMIM:617157
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatomegaly, Hypertriglyceridemia, Short stature, Chronic neutropenia, Hepatocellular carcinoma,...	ORPHA:79259
Ovarian Dysgenesis 3	Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ...	OMIM:614324
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Medulloblastoma	Nausea and vomiting, Adenomatous colonic polyposis, Medulloblastoma, Spinal cord tumor, Neoplasm ...	ORPHA:616
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Anal stenosis, Macrocytic anemia, Aga...	OMIM:250250
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Lymphoproliferative disorder, B-cell lymphoma, Stomati...	OMIM:613011
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Small for gestational age, Cryptorchidism, Hypoplastic nipples, Failure to thrive, C...	OMIM:614866
Leprechaunism	Enlarged ovaries, Abdominal distention, Rectal prolapse, Megarectum, Facial hypertrichosis, Hyper...	ORPHA:508
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu...	OMIM:129900
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatoce...	OMIM:232200
Schimke Immuno-Osseous Dysplasia	Non-Hodgkin lymphoma, Lymphoproliferative disorder, Transient ischemic attack, Thrombocytopenia, ...	ORPHA:1830
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Premature...	ORPHA:90795
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Mgat2-Cdg	Inverted nipples, Abnormality of the endocrine system, Long eyelashes, Hypoplastic nipples, Failu...	ORPHA:79329
Bazex-Dupre-Christol Syndrome	Basal cell carcinoma, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Feeding difficulties in infancy, Cryptorchidism, Hirsutism, Megarectum, Leukopenia, Thrombocytopenia	OMIM:301056
Acyl-Coa Dehydrogenase 9 Deficiency	Acute hepatic failure, Elevated hepatic transaminase, Elevated circulating acylcarnitine concentr...	ORPHA:99901
Renal Hypodysplasia/Aplasia 1	Bicornuate uterus, Vaginal atresia, Primary amenorrhea	OMIM:191830
3-Methylglutaconic Aciduria, Type V	Elevated circulating aspartate aminotransferase concentration, Postnatal growth retardation, Micr...	OMIM:610198
Osteootohepatoenteric Syndrome	Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Microvesicular hep...	OMIM:619377
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Multiple Osteochondromas	Osteochondroma, Chondrosarcoma, Intestinal obstruction, Rib exostoses, Scapular exostoses, Dysphagia	ORPHA:321
Joubert Syndrome 7	Encephalocele, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia	OMIM:611560
Acute Intermittent Porphyria	Nausea and vomiting, Abdominal pain, Abdominal distention, Diarrhea, Ileus, Pseudobulbar paralysi...	ORPHA:79276
Tufted Angioma	Purpura, Petechiae, Thrombocytopenia, Neoplasm of the skin, Hemangioma of the lip, Anemia, Facial...	ORPHA:1063
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Alopecia, Portal hypertension, Esophageal varix, Leukopenia, Sparse ...	ORPHA:974
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Postaxial Acrofacial Dysostosis	Supernumerary nipple	ORPHA:246
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati...	ORPHA:572333
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast...	ORPHA:3463
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ...	ORPHA:369840
21Q22.11Q22.12 Microdeletion Syndrome	Nail dystrophy, Failure to thrive in infancy, Hypoplastic nipples	ORPHA:261323
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Thrombocytopenia...	OMIM:617591
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-...	ORPHA:1876
Relapsing Fever	Abnormal bleeding, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-reactive protein ...	ORPHA:91547
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Villous atrophy, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+...	OMIM:606367
Yunis-Varon Syndrome	Sparse scalp hair, Absent nipple, Hypospadias, Sparse eyelashes, Small for gestational age, Failu...	OMIM:216340
Wilson Disease	Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Throm...	ORPHA:905
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am...	ORPHA:289548
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI	OMIM:612285
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot...	OMIM:614921
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Hepatic steatosis, Decreased liver function, Dysphagia	ORPHA:70472
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Growth delay, Decreased serum zin...	ORPHA:541423
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,...	OMIM:119500
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Hypothyroidism, Aplasia/Hyp...	ORPHA:1812
Neutral Lipid Storage Myopathy	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Hypertrigly...	ORPHA:98908
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Elevated circulating luteinizing hormone level, Highly arched eyebrow,...	OMIM:618419
Gaisböck Syndrome	Hypertriglyceridemia, Angina pectoris, Peptic ulcer, Myocardial infarction, Splenomegaly, Increas...	ORPHA:90041
2P15P16.1 Microdeletion Syndrome	Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Fine hair, Long eyelashes, Hy...	ORPHA:261349
Alg9-Cdg	Inverted nipples, Low posterior hairline, Bicornuate uterus, Hypoplasia of the ovary, Hypoplastic...	ORPHA:79328
Trisomy 12P	Thick eyebrow, Supernumerary nipple	ORPHA:1699
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Gastroesophageal reflux, Cleft palate	ORPHA:819
Absent Radius-Anogenital Anomalies Syndrome	Rectal atresia, Rectovaginal fistula, Anal atresia, Perineal fistula	ORPHA:3016
X-Linked Agammaglobulinemia	Alopecia, Malabsorption, Thrombocytopenia, Chronic diarrhea, Glossoptosis, Neoplasm, Neutropenia,...	ORPHA:47
Meacham Syndrome	Hypoplasia of penis, Cryptorchidism, Hydrometrocolpos, Abnormal fallopian tube morphology, Ambigu...	ORPHA:3097
Galloway-Mowat Syndrome 7	Hypercholesterolemia, High palate, Cleft palate	OMIM:618348
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co...	ORPHA:470
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male...	ORPHA:168558
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Trichohepatoneurodevelopmental Syndrome	Curly hair, Woolly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Decreased b...	OMIM:618268
Joubert Syndrome 14	Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Cleft palate, Hypoplasia of...	OMIM:614424
2Q37 Microdeletion Syndrome	Sparse scalp hair, Wide intermamillary distance, Highly arched eyebrow, Supernumerary nipple, Spa...	ORPHA:1001
Beckwith-Wiedemann Syndrome	Nephroblastoma, Rhabdomyosarcoma, Feeding difficulties in infancy, Adrenocortical carcinoma, Exoc...	ORPHA:116
Primary Myelofibrosis	Abnormal bleeding, Pancytopenia, Extramedullary hematopoiesis, Petechiae, Anorexia, Hematological...	ORPHA:824
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Dysphag...	ORPHA:100026
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia	OMIM:617575
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ...	ORPHA:85451
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:608836
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
Cornelia De Lange Syndrome 1	Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hai...	OMIM:122470
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis, Cleft palate	ORPHA:254346
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Hypospadias, Cryptorchidism, Absence of labia majora, H...	OMIM:265000
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:610651
Bazex Syndrome	Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Chronic hepatitis due to cryptosporidium infection, Au...	ORPHA:572
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	White eyelashes, Aganglionic megacolon, White eyebrow, Short-segment aganglionic megacolon, Crypt...	OMIM:609136
Meckel Syndrome, Type 10	Occipital encephalocele, Anencephaly, Cleft palate, Molar tooth sign on MRI, Bifid uvula	OMIM:614175
Aapoaiv Amyloidosis	Abnormality of the gastrointestinal tract, Atrial flutter, Abnormal cardiac ventricular function,...	ORPHA:439232
Short-Rib Thoracic Dysplasia 12	Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples, Hamartoma of tongue	OMIM:269860
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98855
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Hypoplasminogenemia	Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology	ORPHA:722
Char Syndrome	Supernumerary nipple	ORPHA:46627
Czech Dysplasia	Osteochondroma	OMIM:609162
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Supernumerary nipple	OMIM:614376
Glycogen Storage Disease Ic	Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Inflammation of the large intest...	OMIM:232240
Dyskeratosis Congenita, Digenic	Alopecia, Sparse eyelashes, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, ...	OMIM:620040
Idiopathic Aplastic Anemia	Pancytopenia, Epistaxis, Reticulocytopenia, Retinal hemorrhage, Anemia, Gingival bleeding, Neutro...	ORPHA:88
Carnitine-Acylcarnitine Translocase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:212138
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S...	OMIM:224120
Dpm1-Cdg	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:79322
Ddost-Cdg	Elevated hepatic transaminase, Gastroesophageal reflux, Hepatic steatosis	ORPHA:300536
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Orthostatic hypotension, Hiatus hernia, Rectal prolapse, Arterial ruptur...	ORPHA:287
Familial Multiple Lipomatosis	Hyperlipidemia, Functional intestinal obstruction	ORPHA:199276
Combined Immunodeficiency-Enteropathy Spectrum	Absent eyebrow, Autoimmune hemolytic anemia, Intestinal malrotation, Jejunoileal ulceration, Abdo...	ORPHA:436252
Coffin-Lowry Syndrome	Highly arched eyebrow, Rectal prolapse, Narrow palate, Coarse hair, High palate, Thick eyebrow	OMIM:303600
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Cryptorchidism, Supernumerary nipple	OMIM:612530
Bohring-Opitz Syndrome	Wide intermamillary distance, Thick hair, Supernumerary nipple, Low anterior hairline, Hypertrich...	OMIM:605039
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia	OMIM:230740
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Chédiak-Higashi Syndrome	Elevated hepatic transaminase, Hyponatremia, Abnormal leukocyte morphology, Hypertriglyceridemia,...	ORPHA:167
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Inverted nipples, Supernumerary nipple, Sparse eyebrow, Synophrys, High anterior hairline, Thick ...	OMIM:620098
Vertebral Hypersegmentation And Orofacial Anomalies	Widow's peak, Supernumerary nipple	OMIM:619122
Bainbridge-Ropers Syndrome	Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Precocious puberty, Cryptorchidism, S...	OMIM:615485
Mckusick-Kaufman Syndrome	Cryptorchidism, Hydrometrocolpos, Glandular hypospadias, Failure to thrive, Urogenital sinus anomaly	ORPHA:2473
Renal And Mullerian Duct Hypoplasia	Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus	OMIM:266810
Adrenomyodystrophy	Hepatic steatosis, Short stature, Abnormal intestine morphology	ORPHA:977
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98863
Bone Marrow Failure Syndrome 5	Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Nail dystrophy, Testicular atrophy, Or...	OMIM:618165
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	ORPHA:98853
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615966
Lhermitte-Duclos Disease	Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Combined Oxidative Phosphorylation Deficiency 19	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat...	OMIM:615595
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Sex reversal, Adrenal gland agenesis, Hypospadias, Ovotestis	OMIM:611812
Poliomyelitis	Anorexia, Paralytic ileus, Vomiting, Dysphagia, Nausea	ORPHA:2912
Neuhauser Syndrome	Hypercholesterolemia, High palate, Bifid uvula, Dysphagia	OMIM:249310
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Normochromic anemia, Thrombocytopenia, Neutropenia	OMIM:614857
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Supernumerary nipple	OMIM:616579
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o...	ORPHA:93672
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Cleft palate, Hydrocele testis, Neutropenia, Congenital thrombocytopenia, Anemia	OMIM:616738
Joubert Syndrome 27	Molar tooth sign on MRI, Frontal bossing	OMIM:617120
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe...	OMIM:609583
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Kleefstra Syndrome	Hypoplasia of penis, Hypospadias, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Sy...	ORPHA:261494
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Large for gestational age, Low-set nipples, Fine hair, Hydrocele testis, A...	OMIM:280000
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Elevated hepatic transaminase, Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular he...	OMIM:617156
H Syndrome	Hypertriglyceridemia, Short stature, Malabsorption, Microcytic anemia, Hepatosplenomegaly, Delaye...	ORPHA:168569
Bardet-Biedl Syndrome 1	Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Truncal obe...	OMIM:209900
Abetalipoproteinemia	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Decreased L...	ORPHA:14
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Hepati...	ORPHA:280365
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Cat Eye Syndrome	Anal stenosis, Intestinal malrotation, Rectal fistula, Rectal atresia, Cleft palate, Volvulus, Me...	OMIM:115470
Lesch-Nyhan Syndrome	Hyperuricemia, Anemia	ORPHA:510
Oculocutaneous Albinism Type 2	Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Basal cell carcinoma, Squam...	ORPHA:79432
Kasabach-Merritt Syndrome	Reticulocytosis, Petechiae, Abdominal pain, Thrombocytopenia, Abdominal distention, Leukopenia, P...	ORPHA:2330
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Hy...	ORPHA:848
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hypertension, Second degree atriovent...	OMIM:617021
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Hypertension, Hypokalemia, Hypotension, Anemia	OMIM:611489
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Abdominal pain, C...	ORPHA:90362
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hyperhomocystinemia, High palate, Hypermethioninemia, Hepatic steatosis, Pancreatitis	OMIM:236200
Osteogenesis Imperfecta	Intestinal obstruction, Visceral angiomatosis, Constipation, Dysphagia, Thrombocytopenia	ORPHA:666
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto...	ORPHA:3203
Williams Syndrome	Myocardial infarction, Rectal prolapse, Gastroesophageal reflux, Sudden cardiac death, Abdominal ...	ORPHA:904
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Acute Promyelocytic Leukemia	Abnormal bleeding, Pancytopenia, Petechiae, Epistaxis, Anorexia, Abdominal pain, Diffuse alveolar...	ORPHA:520
Microgastria-Limb Reduction Defect Syndrome	Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnormality of the spleen, Rectal atre...	ORPHA:2538
Cornelia De Lange Syndrome	Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr...	ORPHA:199
Ablepharon-Macrostomia Syndrome	Absent eyebrow, Absent eyelashes, Hypoplastic labia majora, Sparse hair, Hypoplastic nipples, Amb...	OMIM:200110
Postaxial Acrofacial Dysostosis	Cryptorchidism, Micropenis, Supernumerary nipple	OMIM:263750
Wilson Disease	Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice...	OMIM:277900
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o...	ORPHA:90794
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Abnormal bleeding, Nausea and vomiting, Brain neoplasm, Elevated carcin...	ORPHA:370348
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Growth delay, Hepatic steatosis, Fulminant hepatic failure, Hepatic necrosis	OMIM:231530
Tangier Disease	Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly	ORPHA:31150
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hepatomegaly, Hyperlipidemia, High palate, Hypercholesterolemia	OMIM:248370
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Aplasia/Hypoplasia of the nipples, Vaginal atresia	ORPHA:3301
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E...	ORPHA:90044
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Extramedullary hematopoiesis, Petechiae, Epistaxis, Splenomegaly, Leukocytosis...	OMIM:612840
Xp21 Deletion Syndrome	Hypertriglyceridemia, Elevated circulating creatine kinase concentration	ORPHA:261476
Endometrial Cancer	Endometrial carcinoma	OMIM:608089
Immunodeficiency 25	T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia	OMIM:610163
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Elliptocytosis, Anemia of inadequate production	OMIM:166910
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Dextrocardia, Hydrocephalus, Cleft palate, Molar tooth sign...	ORPHA:220493
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus	OMIM:619111
Joubert Syndrome 32	Molar tooth sign on MRI, Frontal bossing	OMIM:617757
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated hepatic transaminase, Neoplasm of the pancreas, Short stature, Microcytic anemia, T lymp...	ORPHA:2959
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hyperuricemia, Hyperalaninemia, Hepatic steatosis, N...	ORPHA:348
Orthostatic Hypotension 2	Orthostatic hypotension, Anemia	OMIM:618182
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen...	ORPHA:300298
Dermatomyositis	Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Sinus tachycardia, Telangie...	ORPHA:221
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia, High palate	ORPHA:2479
Malakoplakia	Abdominal pain, Orchitis, Diarrhea, Neoplasm of the rectum, Prostate neoplasm, Neoplasm of the colon	ORPHA:556
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatomegaly, Short stature, Pancreatic fibrosis, Postnatal growth retardation, Steatorrhea, Hepa...	OMIM:616263
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612924
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Papi...	ORPHA:363618
Williams-Beuren Syndrome	Colonic diverticula, Medial flaring of the eyebrow, Celiac disease, Feeding difficulties in infan...	OMIM:194050
Combined Oxidative Phosphorylation Deficiency 12	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614924
Pitt-Hopkins Syndrome	Supernumerary nipple, Cryptorchidism, Frontal upsweep of hair, Micropenis, Sparse medial eyebrow	OMIM:610954
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypopl...	OMIM:300707
Congenital Disorder Of Glycosylation, Type Ia	Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Steatorrhea, Hepatic fibrosis, Hypo...	OMIM:212065
Johanson-Blizzard Syndrome	Sparse scalp hair, Failure to thrive, Diabetes mellitus, Hypospadias, Small for gestational age, ...	OMIM:243800
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612926
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ...	ORPHA:64739
Pearson Syndrome	Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Hepatomegaly, Reticulocyt...	ORPHA:699
Icf Syndrome	Abnormality of neutrophils, Malabsorption, Protruding tongue, Macroglossia, Lymphopenia, Anemia	ORPHA:2268
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Cryptorchidism, Pancreatic lymphangiectasis, Abnormality of the uterus, Abnormal fallopian tube m...	ORPHA:1655
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Tachycardia, Anisocytosis, Spherocytosis, H...	ORPHA:71275
3Mc Syndrome	Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple	ORPHA:293843
Bloom Syndrome	Poor appetite, Neoplasm, Gastroesophageal reflux, Neoplasm of the breast, Stomach cancer, Decreas...	ORPHA:125
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Acute hepatic failure, Hepatomegaly, Short stature, Elevated circulating aspartate aminotransfera...	OMIM:256810
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Duplication Of Urethra	Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch...	ORPHA:237
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Chordee	OMIM:616728
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Acute hyperammonemia	OMIM:210200
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Malar flattening, Frontal bossing	OMIM:607131
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Wide intermamillary distance, Hamartoma of tongue, Septate vagina, Uterus did...	OMIM:617925
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hypoplasia of the fallopian tube, Vaginal atresia, Absent external genitalia	OMIM:273395
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Esophageal stenosis, Anal fissure, Esophageal stricture, Malnutrition, Squamous cell carcinoma, A...	ORPHA:89842
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Jaundice, Elevated circulating glutaric acid concentration, Hepatic periportal necr...	OMIM:231680
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Hypoplasia of the uterus, B...	OMIM:137920
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Nausea and vomiting, Angina pectoris, Transient...	ORPHA:324
Hand-Foot-Genital Syndrome	Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis	OMIM:140000
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomega...	OMIM:608594
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, I...	ORPHA:565612
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Aicardi-Goutieres Syndrome 9	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Portal hyperte...	OMIM:619487
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Biliary hyperplasia, Pancre...	ORPHA:731
Isolated Thyroid-Stimulating Hormone Deficiency	Macroglossia, Prolonged neonatal jaundice, Hypercholesterolemia, Abnormal circulating thyroglobul...	ORPHA:90674
Bloom Syndrome	Elevated hemoglobin A1c, Postnatal growth retardation, Lymphoma, Squamous cell carcinoma, Growth ...	OMIM:210900
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Sparse scalp hair, Anemia, Premature graying of hair, Neoplasm, Na...	ORPHA:3322
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis	OMIM:201450
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Anorexia, Leukocytosis, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Basal Cell Nevus Syndrome 1	Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Hamartomatous stomach polyps, M...	OMIM:109400
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide intermamillary distance, Decreased response to growth hormone stimulation test, Supernumerar...	OMIM:213980
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Abnormality of the hairline	OMIM:248450
Carpenter Syndrome 2	Wide intermamillary distance, Supernumerary nipple, Highly arched eyebrow, Bilateral cryptorchidi...	OMIM:614976
Pitt-Hopkins Syndrome	Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis, Failure to thrive	ORPHA:2896
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Currarino Syndrome	Bicornuate uterus, Rectovaginal fistula, Presacral teratoma, Septate vagina	OMIM:176450
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Villous atrophy, Pancytopenia, Pancreatic fibrosis, Anorexia, Malabsorption...	OMIM:557000
Lumbar Syndrome	Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Hemangioma, A...	ORPHA:83628
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Myelodysplasia, Thrombocytopenia, Steatorrhea, Persistence ...	OMIM:260400
Mirage Syndrome	Myelodysplasia, Cryptorchidism, Esophageal stricture, Chronic diarrhea, Thrombocytopenia, Hypopla...	OMIM:617053
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Cleft palate, Molar tooth sign on MRI	ORPHA:220497
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated h...	OMIM:269700
Hb Bart'S Hydrops Fetalis	Pericarditis, Abnormal hemoglobin, Splenomegaly, Congestive heart failure, Anemia	ORPHA:163596
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Hematological neoplasm, Leukocytosis, Breast carcinoma, Chr...	ORPHA:3243
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglutamatemia, Hypoargininemia, Low plasma citrulline, Chronic diarrhea, Hyperammonemia, Feed...	OMIM:620358
Stormorken Syndrome	Abnormal bleeding, Howell-Jolly bodies, Epistaxis, Subarachnoid hemorrhage, Elevated circulating ...	OMIM:185070
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu...	OMIM:230800
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Hypospadias, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, ...	ORPHA:477993
Dyskeratosis Congenita, Autosomal Dominant 1	Ridged nail, Alopecia, Myelodysplasia, Nail pits, Premature graying of hair, Squamous cell carcin...	OMIM:127550
Tolchin-Le Caignec Syndrome	Osteochondroma, Thick eyebrow, Hirsutism, Cardiac rhabdomyoma	OMIM:618971
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Growth delay, Infection associated neutropenia, Neutropenia, Hepat...	ORPHA:445038
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Hamartoma of tongue, Hydrocephalus, Anencephaly, Cleft palate, Hypoplasia o...	OMIM:616546
Developmental And Epileptic Encephalopathy 50	Acanthocytosis, Diarrhea, Schistocytosis, Anisopoikilocytosis, Hyperammonemia, Dysphagia, Anemia	OMIM:616457
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Hypertension, Microangiopathic hemolytic a...	OMIM:612925
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon, Molar tooth sign on MRI	ORPHA:2318
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Postnatal growth retardation, Splenomegaly, Jaundice, Abnormal...	ORPHA:288
Joubert Syndrome 2	Encephalocele, Brainstem dysplasia, Hydrocephalus, Hypoplasia of the brainstem, High palate, Mola...	OMIM:608091
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Anorexia, Abdominal pain, Vasculitis, Gastroint...	ORPHA:761
Alagille Syndrome 1	Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduc...	OMIM:118450
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Abdominal pain, Sple...	ORPHA:822
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Obesity, Micropenis	OMIM:618653
Pyropoikilocytosis, Hereditary	Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis	OMIM:266140
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Malabsorption, Atypical or prolonge...	ORPHA:83471
Doors Syndrome	Adrenal hyperplasia, Low anterior hairline, Congenital hypothyroidism, Capillary hemangioma, Ambi...	ORPHA:79500
Fraser Syndrome 2	Intestinal malrotation, Abdominal distention, Rectal atresia, Low anterior hairline, Hypoplasia o...	OMIM:617666
Waardenburg Syndrome, Type 1	White eyelashes, White eyebrow, Synophrys, Premature graying of hair, Aplasia of the vagina, Whit...	OMIM:193500
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:220295
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Growth delay, Leukopenia, Neutropenia, Intrauterine growth retardation, Hepatic steat...	OMIM:616271
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Splenomegaly, Lip telangiectasia, Palmar telangi...	OMIM:613471
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, High palate	OMIM:608612
D-Bifunctional Protein Deficiency	Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal...	OMIM:261515
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Wide intermamillary distance, Failure to thrive, Hypospadias, Supernumerary nipple	ORPHA:397715
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis	OMIM:619471
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Hypoplastic left heart	OMIM:619562
Aromatase Deficiency	Hyperlipidemia, Hepatic steatosis	ORPHA:91
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Hypopigmentation of hair, Malabsorption, Feedin...	ORPHA:565
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus	OMIM:601186
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Splenomegaly, Anemia, Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Villous atrophy, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Esophageal carcinoma, ...	ORPHA:391487
Behçet Disease	Gastrointestinal hemorrhage, Aortic regurgitation, Nausea and vomiting, Pericarditis, Anorexia, M...	ORPHA:117
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI	OMIM:617127
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Supernumerary tooth, Brachyturricephaly, Retrognathi...	ORPHA:314621
Mayer-Rokitansky-Küster-Hauser Syndrome	Hypoplasia of the vagina, Aplasia of the uterus	ORPHA:3109
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Supernumerary nipple	ORPHA:247262
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology	ORPHA:281090
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Pyloric stenosis, Jaundice, Aplasia/Hypoplasia of the pancreas, Ab...	ORPHA:93111
Au-Kline Syndrome	Inverted nipples, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Failure to ...	OMIM:616580
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple	ORPHA:457279
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Decreased circulating 12-HETE, Iron deficiency anemia, Gastric ulcer, Esophageal ...	OMIM:618372
Hepatocellular Carcinoma	Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis	OMIM:114550
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, Malabsorption, White hair, Fine hair, Lymphopenia, Anemia	ORPHA:935
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Nail ...	OMIM:614527
Adams-Oliver Syndrome 1	Alopecia, Imperforate hymen, Supernumerary nipple	OMIM:100300
Combined Oxidative Phosphorylation Deficiency 37	Elevated hepatic transaminase, Hypoalbuminemia, Bile duct proliferation, Macrovesicular hepatic s...	OMIM:618329
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated hemogl...	OMIM:619127
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Hyperlipidemia	ORPHA:90154
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Splenomegaly, Thrombocytopenia, Macroglossia, Leukopenia, Hypoalbuminemia, Macroves...	OMIM:617303
Dilated Cardiomyopathy With Ataxia	Elevated hepatic transaminase, Elevated circulating glutaric acid concentration, Microvesicular h...	ORPHA:66634
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Focal Dermal Hypoplasia	Brittle hair, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Patchy alopecia, Hypopla...	OMIM:305600
Shwachman-Diamond Syndrome	Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to growth hormone s...	ORPHA:811
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ...	OMIM:276820
Leopard Syndrome 1	Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic...	OMIM:151100
Combined Oxidative Phosphorylation Deficiency 27	Microvesicular hepatic steatosis, Hyperammonemia	OMIM:616672
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, High palate	ORPHA:90153
Oliver Syndrome	Thick eyebrow, Supernumerary nipple	ORPHA:2920
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Diarrhea, Thymoma, Dysphagia, Anemia	ORPHA:169105
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Jaundice, Bicarbonaturi...	OMIM:229600
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Microphallus	OMIM:618454
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele	OMIM:612291
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormality of interleukin secretion, Abnormal...	ORPHA:542323
Dyskeratosis Congenita	Abnormality of neutrophils, Anorectal anomaly, White hair, Premature graying of hair, Neoplasm, S...	ORPHA:1775
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Decreased testicular size	OMIM:619321
Rajab Interstitial Lung Disease With Brain Calcifications 1	Elevated hepatic transaminase, Pancytopenia, Short stature, Intestinal malrotation, Portal hypert...	OMIM:613658
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Renal neoplasm, Abdominal pain, Retinal hamartoma, Renal angiomyolip...	ORPHA:538
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Inverted nipples, Wide intermamillary distance, External genital hypoplasia, Large for gestationa...	ORPHA:96334
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Esophageal varix, Molar tooth sign on MRI	OMIM:216360
Linear Skin Defects With Multiple Congenital Anomalies 1	Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy	OMIM:309801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615356
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Diarrhea, Hypoplasia of t...	OMIM:603554
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Chronic diarrhea, Rectal abscess, Neutropenia	OMIM:601495
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, High, narrow palate, Gastroesophageal reflux, Abnormal gastr...	ORPHA:369837
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Hypoplastic labia majora, Vaginal atresia, Fused labia minora	OMIM:207410
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Pallister-Hall Syndrome	Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis...	ORPHA:672
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt...	OMIM:616959
Chromosome 13Q14 Deletion Syndrome	Cryptorchidism, Micropenis, Retinoblastoma, Supernumerary nipple	OMIM:613884
Leukocyte Adhesion Deficiency, Type I	Leukocytosis, Chronic diarrhea, Rectal abscess	OMIM:116920
Glycerol Kinase Deficiency	Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis	OMIM:307030
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating fatty-acid concentration, Pancr...	ORPHA:263455
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Coarse hair, Sparse hair, Dystrophic fing...	ORPHA:1071
Meacham Syndrome	Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina	OMIM:608978
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Hypertensive crisis, Aganglionic megacolon, Intestinal malrotation, ...	ORPHA:567
Joubert Syndrome 1	Brainstem dysplasia, Protruding tongue, Occipital myelomeningocele, Macroglossia, Hypoplasia of t...	OMIM:213300
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Supernumerary nipple	ORPHA:1236
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Cryptorchidism, High anterior hairline, Capillary hemangioma, Supernumerary nipple	OMIM:619194
Mitochondrial Complex I Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure, Thrombocytopenia	OMIM:611126
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Leukocytosis, Lipid ac...	ORPHA:20
Acute Liver Failure	Gastrointestinal hemorrhage, Abnormal bleeding, Shock, Diarrhea, Intracranial hemorrhage, Prolong...	ORPHA:90062
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus	OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia	OMIM:271520
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus	ORPHA:457284
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Thrombocytopenia, Fine hair, Premature graying of hair, Intestinal bleedi...	OMIM:612199
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Micrognathia, Hypoplasia of the pons, Dental malocclusion, Hypoplas...	ORPHA:444072
Microphthalmia, Syndromic 1	Aganglionic megacolon, High, narrow palate, Rectal prolapse, Pyloric stenosis, Cryptorchidism, Hi...	OMIM:309800
Incontinentia Pigmenti	Alopecia, Supernumerary nipple, Abnormal hair morphology, Verrucae, Dystrophic toenail	ORPHA:464
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hypocalcemia, Lym...	OMIM:619991
Slc35A2-Cdg	Abnormal heart morphology, Tetralogy of Fallot, Abnormal midbrain morphology, Atrophy/Degeneratio...	ORPHA:356961
17Q11 Microdeletion Syndrome	Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor...	ORPHA:97685
Classical-Like Ehlers-Danlos Syndrome Type 2	Hypertriglyceridemia, High palate, Long uvula, Narrow palate	ORPHA:536532
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Autoimmune Lymphoproliferative Syndrome	Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative...	ORPHA:3261
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Acute Transverse Myelitis	Paralytic ileus, Constipation, Gastroparesis	ORPHA:139417
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Microvesicular hepatic steatosis, ...	OMIM:618278
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Encephalocele, Hypoplastic facial bones, Stillbirth, Molar tooth ...	OMIM:616300
Bronchogenic Cyst	Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology	ORPHA:2357
Orofaciodigital Syndrome Vi	Hamartoma of tongue, Cleft palate, Lobulated tongue, High palate, Hypoplastic left heart, Molar t...	OMIM:277170
Joubert Syndrome 30	Molar tooth sign on MRI	OMIM:617622
Simpson-Golabi-Behmel Syndrome	Hypoplasia of penis, Hypospadias, Nephroblastoma, Supernumerary nipple, Cryptorchidism, Neoplasm,...	ORPHA:373
Joubert Syndrome 22	Molar tooth sign on MRI	OMIM:615665
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Reduced haptoglobin level, Anemia of inadequate production, Congenital hypopla...	OMIM:105600
Joubert Syndrome 37	Molar tooth sign on MRI, Frontal bossing	OMIM:619185
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Splenomegaly, Pancreatic cysts, Esophageal varix, Hypertension	OMIM:263200
Mitochondrial Trifunctional Protein Deficiency	Diffuse hepatic steatosis, Hypocalcemia, Chronic hepatic failure, Cholestasis	ORPHA:746
Joubert Syndrome 6	Molar tooth sign on MRI, Hypoplasia of the brainstem, Thickened superior cerebellar peduncle, Elo...	OMIM:610688
Orofaciodigital Syndrome Type 4	Decreased testicular size, Monorchism, High, narrow palate, Submucous cleft hard palate, Rectal a...	ORPHA:2753
Microphthalmia With Linear Skin Defects Syndrome	Abnormal eyelash morphology, Feeding difficulties, Abnormal rectum morphology, Abnormal testis mo...	ORPHA:2556
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Decreased testicular size, Oropharyngeal squamous cell carcinoma, Pancyto...	OMIM:305000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Hamartoma, Hydrometrocolpos, Vaginal atresia	OMIM:617088
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle	OMIM:618161
Agammaglobulinemia, X-Linked	Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Lymph node hypoplasia, B lymp...	OMIM:300755
Joubert Syndrome 3	Molar tooth sign on MRI, Atrial septal defect, Elongated superior cerebellar peduncle	OMIM:608629
Schinzel-Giedion Syndrome	Sacrococcygeal teratoma, Streak ovary, Hypospadias, Myeloid leukemia, Nephroblastoma, Failure to ...	ORPHA:798
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly...	OMIM:256040
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Congestive heart failure, Bruising susceptibility, Arterial rupture	OMIM:225400
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De...	ORPHA:466791
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Myocardial infarction, Pulmon...	ORPHA:447
3Mc Syndrome 1	Highly arched eyebrow, Synophrys, Supernumerary nipple	OMIM:257920
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inverted nipples, Cryptorchidism, Hypothyroidism, Supernumerary nipple	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inverted nipples, Cryptorchidism, Hypothyroidism, Supernumerary nipple	ORPHA:352665
Oculoectodermal Syndrome	Supernumerary nipple, Pineal cyst	OMIM:600268
Chand Syndrome	Curly hair, Imperforate hymen	ORPHA:1401
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Hypospadias, Septate vagina, Facial capillary hemangioma, Precociou...	OMIM:270400
Sacral Defect With Anterior Meningocele	Constipation, Sacral lipoma, Rectal abscess	OMIM:600145
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concentration, N...	ORPHA:480880
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Adult Krabbe Disease	Abnormal pons morphology, Abnormal medulla oblongata morphology, Abnormal midbrain morphology	ORPHA:206448
Kindler Epidermolysis Bullosa	Esophageal stricture, Neoplasm of the urethra, Squamous cell carcinoma, Inflammation of the large...	ORPHA:2908
Vici Syndrome	Neutropenia, Cleft palate, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate...	OMIM:242840
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis	ORPHA:391665
Yellow Fever	Abnormal bleeding, Shock, Neutrophilia, Supraventricular arrhythmia, Abdominal pain, Hematemesis,...	ORPHA:99829
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Retrognathia	OMIM:617563
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated hepatic transaminase, Hepatomegaly, Methylmalonic acidemia, Gastroesophageal reflux, Inc...	ORPHA:17
Trichorhinophalangeal Syndrome, Type Ii	Osteochondroma, Sparse scalp hair, Bilateral cryptorchidism, Osteoma, Rib exostoses, Fragile nail...	OMIM:150230
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypoalbuminemia, Gastroesophageal reflux, Intrah...	OMIM:619534
Microphthalmia, Syndromic 2	Hypospadias, Septate vagina, Cryptorchidism, Adrenal insufficiency, Laterally curved eyebrow, Dec...	OMIM:300166
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233710
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, High palate, Decreased liver function, Increased intramyocellular lipid droplets, I...	OMIM:220110
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg...	ORPHA:404454
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Malabsorption, Narrow palate, Hypokalemia, Hyperaldosteronism, Gastr...	ORPHA:534
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Diffuse hepatic steatosis, Decreased liver function, Anemia	ORPHA:436271
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Squamous cell carcinoma of the skin, Nail dystrophy, Onychogryposis	ORPHA:79396
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233690
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Elevated hepatic transaminase, Hypertyrosinemia, Cholangitis, Microvesicular hepatic steatosis, C...	OMIM:124000
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Arima Syndrome	Hepatomegaly, Esophageal varix, Growth delay, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Anemia	OMIM:243910
Ataxia-Telangiectasia	Acute lymphoblastic leukemia, T lymphocytopenia, Hypoplasia of the thymus, Decreased proportion o...	OMIM:208900
Nijmegen Breakage Syndrome	Anal stenosis, Autoimmune hemolytic anemia, Thrombocytopenia, Cleft palate, T lymphocytopenia, B ...	OMIM:251260
Holoprosencephaly 2	Aplasia of the premaxilla, Proboscis, Alobar holoprosencephaly, Holoprosencephaly, Malar flatteni...	OMIM:157170
Cimdag Syndrome	Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly	OMIM:619273
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Portal hypertension, Celiac disease, Hematemesis, Hype...	OMIM:301068
Steinert Myotonic Dystrophy	Elevated hepatic transaminase, Hypercholesterolemia, Intestinal pseudo-obstruction, Oral-pharynge...	ORPHA:273
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis, Dysphagia	OMIM:606721
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated hepatic transaminase, Hyponatremia, Celiac disease, Gastrointestinal dysmotility, Hyperl...	ORPHA:293987
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Aplasia of the thymus, Cleft palate, Narrow palate, T lymphocytopenia, Abnormal B cell morphology	OMIM:618223
Fraser Syndrome	Wide intermamillary distance, Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair patt...	ORPHA:2052
Joubert Syndrome 5	Molar tooth sign on MRI, Occipital encephalocele, Cleft palate, Thickened superior cerebellar ped...	OMIM:610188
Fraser Syndrome 1	Absent eyebrow, Wide intermamillary distance, Hypospadias, Absent eyelashes, Cryptorchidism, Exte...	OMIM:219000
Meckel Syndrome, Type 1	Occipital encephalocele, Intestinal malrotation, Large placenta, Hydrocephalus, Patent ductus art...	OMIM:249000
Turner Syndrome Due To Structural X Chromosome Anomalies	Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,...	ORPHA:99413
Mosaic Monosomy X	Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,...	ORPHA:99228
Monosomy X	Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,...	ORPHA:99226
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia,...	ORPHA:508533
Turner Syndrome	Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamillary distance, Alopecia,...	ORPHA:881
Peters-Plus Syndrome	Hypoplasia of the vagina, Wide intermamillary distance, Hypospadias, Bilobate gallbladder, Crypto...	OMIM:261540
Congenital Disorder Of Glycosylation, Type Iiw	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc...	OMIM:619525
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Feeding difficulties in infancy, Nasogastric tube feeding in infancy...	ORPHA:508488
Apert Syndrome	Cryptorchidism, Vaginal atresia	OMIM:101200
Oeis Complex	Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb...	OMIM:258040
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Atrial septal defect, Ventricular septal defect, Hamartoma of tongue, Pa...	OMIM:615948
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Feeding difficulties in infancy, Synophrys, Hydrocele testis, High palate, Gastroe...	ORPHA:280633
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Squamous cell carcinoma, Trichilemm...	ORPHA:477
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Frontal bossing, Biparietal narrowing, Micrognathia	ORPHA:2754
Peters Plus Syndrome	Wide intermamillary distance, Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia ...	ORPHA:709
Branchiooculofacial Syndrome	Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cryptorchidism, Low posterior ha...	OMIM:113620
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, High palate, Hepatic steatosis	OMIM:619934
Lowe Oculocerebrorenal Syndrome	Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi...	OMIM:309000
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:306400
Ogden Syndrome	Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis, Jaundice, Narrow p...	OMIM:300855
Plague	Abnormal bleeding, Tachycardia, Anorexia, Abdominal pain, Hematemesis, Splenomegaly, Diarrhea, En...	ORPHA:707
Congenital Tracheal Stenosis	Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A...	ORPHA:141127
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Elevated hepatic transaminase, High, narrow palate, Jaundice, Short uvula, Neurofibroma, Ankylogl...	OMIM:619475
Metachromatic Leukodystrophy	Bowel incontinence, Abnormal stomach morphology, Neoplasm of the gallbladder, Abnormal duodenum m...	ORPHA:512
Simpson-Golabi-Behmel Syndrome, Type 1	Wide intermamillary distance, Hypospadias, Short nail, Supernumerary nipple, Cryptorchidism, Hype...	OMIM:312870
Amoebiasis Due To Free-Living Amoebae	Sinusitis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Abnormal brainste...	ORPHA:68
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Microvesicular hepatic steatosis, High palate, Cirrhosis, Elevated hepatic iron con...	OMIM:300868
Pontocerebellar Hypoplasia Type 7	Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi...	ORPHA:284339
Japanese Encephalitis	Abnormal pons morphology, Abnormal substantia nigra morphology, Abnormal midbrain morphology	ORPHA:79139
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato...	OMIM:203700
Penile Agenesis	Rectal fistula, Cryptorchidism, Anorectal anomaly, Tracheoesophageal fistula, Anal atresia	ORPHA:49
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Parietal foramina, Cleft of chin, Oxycephaly, Brachycephaly, Plagiocep...	OMIM:101400
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Broad eyebrow	OMIM:235730
Joubert Syndrome 38	Molar tooth sign on MRI, Frontal bossing	OMIM:619476
Wiedemann-Rautenstrauch Syndrome	Hypertriglyceridemia, Short stature, Growth delay, Severe intrauterine growth retardation, Submuc...	ORPHA:3455
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Intrauterine growth retardation, Hypertriglyceridemia, Short stature	OMIM:264090
1P36 Deletion Syndrome	Short stature, Abnormality of the spleen, Pyloric stenosis, Abnormality of the liver, Neuroblasto...	ORPHA:1606
Pallister-Killian Syndrome	Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Sparse eyelashes, Supernumerary nipple, ...	OMIM:601803
Digeorge Syndrome	Short stature, Splenomegaly, High, narrow palate, Thrombocytopenia, Cleft palate, High palate, Hy...	OMIM:188400
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Molar tooth sign on MRI, Hypoplasia of the brainstem, Ventricular septal defect	OMIM:619306
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Hypospadias, Cryptorchidism, Hydrocele testis, Chordee, Hematocolpos, Imperforate hymen	OMIM:619522
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cleft soft palate, Portal hypertension, Esophageal varix, Cholestasis, Hepatosplenomegaly, Dyspha...	OMIM:619503
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Microvesicular hepatic steatosis, Hyperammonemia, Anteriorly placed anus, Dysphagia, Increased he...	OMIM:220111
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Webbed pen...	ORPHA:261537
Alström Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomeg...	ORPHA:64
Mowat-Wilson Syndrome	Bifid scrotum, Hypospadias, Septate vagina, Cryptorchidism, Hydrocele testis, Chordee, Horizontal...	ORPHA:2152
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Frontal bossing	OMIM:619479
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Hypospadias, Septate vagina, Highly arched eyebrow, Cryptorchidism, Hydrocele test...	ORPHA:261552
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Orofaciodigital Syndrome Type 14	Microretrognathia, Supernumerary tooth, Molar tooth sign on MRI, Trigonocephaly	ORPHA:434179
Cenani-Lenz Syndrome	Malar flattening, Frontal bossing, Abnormal dental enamel morphology	ORPHA:3258

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Apc

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Apc.

No publications found that use IMPC mice or data for Apc.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Apc^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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