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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 (1449 diseases)

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

Disease	Matching phenotypes	Source
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Gastric Cancer	Stomach cancer	OMIM:613659
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c...	OMIM:114500
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Desmoid Tumor	Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina...	ORPHA:873
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast...	ORPHA:99818
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Osteoma, Intestinal bleeding, Duodenal polyposis, Low posterior hairline, Hepatoblastoma, Iron de...	ORPHA:261584
Hepatocellular Carcinoma	Hepatocellular carcinoma	OMIM:114550
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Frontal bossing, Malar flattening	ORPHA:3258

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

Disease	Matching phenotypes	Source
Polyposis, Intestinal, Scattered And Discrete	Discrete intestinal polyps	OMIM:175400
Esophageal Cancer	Esophageal carcinoma	OMIM:133239
Sessile Serrated Polyposis Cancer Syndrome	Serrated intestinal polyps	OMIM:617108
Lynch Syndrome 1	Colon cancer	OMIM:120435
Lynch Syndrome 2	Colon cancer	OMIM:609310
Familial Adenomatous Polyposis 2	Colon cancer, Adenomatous colonic polyposis	OMIM:608456
Colorectal Cancer, Susceptibility To, 3	Colon cancer	OMIM:612229
Polyposis Syndrome, Hereditary Mixed, 2	Colon cancer, Hyperplastic colonic polyposis, Juvenile colonic polyposis, Adenomatous colonic pol...	OMIM:610069
Lymphoma, Mucosa-Associated Lymphoid Type	Gastric lymphoma	OMIM:137245
Axin2-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Neoplasm of the rectum, Colorectal polyposis, Adenomatous colonic polyposis	ORPHA:401911
Colorectal Cancer, Hereditary Nonpolyposis, Type 6	Hereditary nonpolyposis colorectal carcinoma	OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7	Hereditary nonpolyposis colorectal carcinoma	OMIM:614385
Polyposis, Intestinal, With Multiple Exostoses	Multiple exostoses, Intestinal polyposis	OMIM:175450
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Hypertriglyceridemia 2	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:619324
Cholesterol-Ester Transfer Protein Deficiency	Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi...	ORPHA:79506
Glycogen Storage Disease Vi	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog...	OMIM:232700
Gastric Cancer	Stomach cancer	OMIM:613659
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer	Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis	OMIM:246470
Atherosclerosis Susceptibility	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:108725
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta...	ORPHA:247798
Paraganglioma And Gastric Stromal Sarcoma	Paraganglioma, Neoplasm of the gastrointestinal tract	OMIM:606864
Pilomatrixoma	Neoplasm of head and neck, Pilomatrixoma	ORPHA:91414
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Hereditary Mixed Polyposis Syndrome	Hematochezia, Abnormal bleeding, Colon cancer, Adenomatous colonic polyposis, Thyroid carcinoma, ...	ORPHA:157794
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Peutz-Jeghers Syndrome	Neoplasm of the colon, Stomach cancer, Intestinal obstruction, Neoplasm of the rectum, Abdominal ...	ORPHA:2869
Anal Canal Carcinoma	Anal canal squamous carcinoma	OMIM:105580
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Mismatch Repair Cancer Syndrome 4	Astrocytoma, Non-Hodgkin lymphoma, Adenomatous colonic polyposis, Glioblastoma multiforme, Colon ...	OMIM:619101
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Hypoalphalipoproteinemia, Primary, 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:604091
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Nausea and vomiting, Esophageal neoplasm, Int...	ORPHA:44890
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Juvenile Polyposis Syndrome	Hematochezia, Diarrhea, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Abdomi...	OMIM:174900
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Multiple...	ORPHA:220460
Cholangiocarcinoma, Susceptibility To	Cholangiocarcinoma	OMIM:615619
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly, Hypertriglyceridemia	OMIM:619175
Cowden Syndrome 4	Renal neoplasm, Trichilemmoma, Hamartoma, Breast carcinoma	OMIM:615107
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co...	OMIM:613244
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Squamous Cell Carcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl...	ORPHA:424019
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Hodgkin lymphoma, Lymphadenopathy, Lymphop...	OMIM:618261
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Sitosterolemia 2	Hypercholesterolemia, Elevated circulating sitosterol concentration	OMIM:618666
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Spl...	OMIM:614480
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Oslam Syndrome	Neoplasm, Osteosarcoma	OMIM:165660
Congenital Disorder Of Glycosylation, Type Iip	Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased LDL ...	OMIM:616829
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Melena, Increased circulating iron concentration, Increased mean corpuscular v...	ORPHA:98870
Hirschsprung Disease	Diarrhea, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyroid gland, In...	ORPHA:388
Fish-Eye Disease	Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ...	OMIM:136120
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Pancytopen...	OMIM:619924
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po...	ORPHA:329971
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Hypercholesterolemia, Familial, 4	Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:603813
Diamond-Blackfan Anemia 19	Anemia, Erythroid hypoplasia, Steroid-responsive anemia	OMIM:618312
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Thyroid adenoma, Colon cancer, Stomach cancer, Juvenile gastrointestinal po...	ORPHA:480536
Diarrhea 7, Protein-Losing Enteropathy Type	Hypoalbuminemia, Protein-losing enteropathy, Villous atrophy, Hyperlipidemia, Hypercholesterolemia	OMIM:615863
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c...	OMIM:114500
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Immunodeficiency 18	Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD...	OMIM:615615
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Desmoid Tumor	Neoplasm of the skin, Gastrointestinal hemorrhage, Malabsorption, Intestinal polyposis, Intestina...	ORPHA:873
Volvulus Of Midgut	Volvulus, Intestinal malrotation, Neonatal intestinal obstruction, Constipation, Abdominal disten...	OMIM:193250
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2	Highly arched eyebrow, Absent nipple, Male urethral meatus stenosis, Cryptorchidism, Hypoplastic ...	OMIM:616001
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ...	OMIM:620189
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Hemangioma, Iron deficiency anemia, Thrombocytopenia, Rectal prola...	OMIM:112200
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Abnormal rectum morphology, Gangl...	ORPHA:251992
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology, Refractory anemia with ringed sideroblasts	OMIM:182170
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Abnormal large intestine morphology, Gastroesophageal reflux, Poor s...	ORPHA:2198
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis	OMIM:612591
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Papilloma Of Choroid Plexus	Choroid plexus papilloma, Osteosarcoma	OMIM:260500
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Cholestasis, Progressive Familial Intrahepatic, 10	Hypoalbuminemia, Portal fibrosis, Increased total bilirubin, Elevated circulating aspartate amino...	OMIM:619868
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypertriglyceridemia	ORPHA:366
Cronkhite-Canada Syndrome	Gastrointestinal carcinoma, Alopecia, Diarrhea, Dystrophic toenail, Sparse body hair, Anorexia, F...	ORPHA:2930
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Bloody diarrhea, Leukocytosis, Elevated circulating C-reactive protein concentration, Anemia, Ulc...	OMIM:619398
Vascular Hyalinosis	Protein-losing enteropathy, Hematochezia, Diarrhea, Premature graying of hair, Malabsorption, Sub...	OMIM:277175
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Cholesteryl Ester Storage Disease	Hepatic failure, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegal...	ORPHA:75234
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Birt-Hogg-Dube Syndrome 1	Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple lipomas, Large intestinal p...	OMIM:135150
Inflammatory Bowel Disease (Crohn Disease) 1	Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct...	OMIM:266600
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hepatic steatos...	OMIM:615703
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism	OMIM:183350
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
Premature Aging Syndrome, Okamoto Type	Abnormal hair morphology, Neoplasm, Osteosarcoma	OMIM:601811
Agammaglobulinemia 7, Autosomal Recessive	Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology	OMIM:615214
Diamond-Blackfan Anemia-Like	Steroid-responsive anemia, Pure red cell aplasia	OMIM:617911
Burkitt Lymphoma	Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the spleen, Decreased pr...	ORPHA:543
Transient Erythroblastopenia Of Childhood	Anemia, Transient erythroblastopenia	OMIM:227050
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic...	ORPHA:99147
Oslam Syndrome	Osteosarcoma	ORPHA:2760
Infantile Myofibromatosis	Neoplasm of the skin, Abnormal hair morphology, Benign neoplasm of the central nervous system, In...	ORPHA:2591
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Hepatic steatosis, Hypertriglyceridemia	ORPHA:436182
Hyperlipidemia, Familial Combined, 3	Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ...	OMIM:144250
Immunodeficiency 21	Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt...	OMIM:614172
Paget Disease Of Bone 3	Osteosarcoma	OMIM:167250
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid...	ORPHA:158057
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1	Aplasia/Hypoplasia of the nipples, Absent nipple, Hypoplastic areola, Aplasia/Hypoplasia of the b...	OMIM:113700
Gastrointestinal Stromal Tumor	Neurofibroma, Intestinal obstruction, Gastrointestinal stroma tumor, Constipation, Dysphagia	OMIM:606764
Congenital Factor V Deficiency	Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo...	ORPHA:326
Ovarian Dysgenesis 2	Streak ovary, Hirsutism, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hy...	OMIM:300510
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Uterine neoplasm, Bloody diarrhea, Neoplasm of t...	OMIM:175200
Citrullinemia, Type Ii, Adult-Onset	Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hyperammonemia, Hypera...	OMIM:603471
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Abdominal colic, Protracted diarrhea, Anorexia, Hypoactive bowel sou...	ORPHA:100079
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Malabsorption, Leukocytosis, Eosino...	ORPHA:2070
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level, Ambiguous genitalia	OMIM:613571
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous...	ORPHA:853
Neuroendocrine Tumor Of Stomach	Protracted diarrhea, Nausea and vomiting, Anorexia, Right ventricular failure, Tricuspid regurgit...	ORPHA:100075
Immunodeficiency 112	Reduced natural killer cell count, Increased T cell count, Decreased proportion of class-switched...	OMIM:620449
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Crohn's disease, Perianal abscess, Enterocolitis, Colitis	OMIM:613148
Squamous Cell Carcinoma Of The Esophagus	Feeding difficulties in infancy, Esophageal carcinoma, Nausea and vomiting	ORPHA:99977
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage, Hemangioma	OMIM:106070
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Abdominal pai...	ORPHA:97286
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Immunodeficiency 76	Lymphopenia, Splenomegaly, B-cell lymphoma, Lymphadenopathy, B lymphocytopenia, Colitis, T lympho...	OMIM:619164
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Alopecia, Diarr...	OMIM:175500
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Ring Chromosome Y Syndrome	Streak ovary, Cryptorchidism, Abnormality of the female genitalia, Hypospadias, Male infertility,...	ORPHA:261529
Mismatch Repair Cancer Syndrome 2	Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer	OMIM:619096
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Lipase Deficiency, Combined	Pancreatitis, Hypertriglyceridemia	OMIM:246650
Hemophagocytic Lymphohistiocytosis, Familial, 3	Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia	OMIM:608898
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Increased LDL cholesterol concen...	OMIM:607616
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Hematochezia, Ileal atresia, Colonic atresia, Bloody diarrhea, Intestinal malrotation, Lymphopeni...	OMIM:243150
Immunodeficiency 57 With Autoinflammation	Inflammation of the large intestine, Reduced natural killer cell count, Perianal abscess, Gastrit...	OMIM:618108
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	T lymphocytopenia	OMIM:242870
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A...	ORPHA:897
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Cholestasis-Lymphedema Syndrome	Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Splenomegaly, Neonatal c...	OMIM:214900
Turcot Syndrome With Polyposis	Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma, Glioblast...	ORPHA:99818
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, A...	ORPHA:26790
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati...	OMIM:616828
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome, Hypospadias	OMIM:201710
Macrocephaly-Intellectual Disability-Autism Syndrome	Thyroid carcinoma, Intestinal polyposis, Multiple lipomas, Lymphoid nodular hyperplasia, Hurthle ...	ORPHA:210548
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Citrullinemia, Type Ii, Neonatal-Onset	Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Decreased HDL cholesterol concentr...	OMIM:605814
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl...	ORPHA:424016
Pelvic Organ Prolapse, Susceptibility To	Rectal prolapse, Bowel incontinence	OMIM:176780
Patent Ductus Venosus	Hypergalactosemia, Hepatic steatosis, Hyperammonemia, Decreased liver function	OMIM:601466
Glycogen Storage Disease Ixa1	Elevated circulating hepatic transaminase concentration, Splenomegaly, Hyperuricemia, Hypercholes...	OMIM:306000
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Lipodystrophy, Congenital Generalized, Type 3	Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Hypertri...	OMIM:612526
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Radiation Proctitis	Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ...	ORPHA:70475
Hypertriglyceridemia 1	Hypertriglyceridemia, Increased VLDL cholesterol concentration	OMIM:145750
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Gynecomastia, Adrenal hyperplasia, Male pseudohermaphroditism, Ambiguous genitalia, Primary ameno...	OMIM:202110
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Combined Immunodeficiency, X-Linked	Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-...	OMIM:312863
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen...	ORPHA:206484
Hepatic Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia	OMIM:614025
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Craniosynostosis, Aprosencephaly, Micrognathia	OMIM:601374
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Neuroendocrine Tumor Of The Colon	Hypotension, Lack of bowel sounds, Right ventricular failure, Protracted diarrhea, Anorexia, Hypo...	ORPHA:100080
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133700
Chromosome 5Q Deletion Syndrome	Erythroid hypoplasia, Myelodysplasia, Refractory macrocytic anemia, Anemia of inadequate production	OMIM:153550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated...	OMIM:205950
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap...	OMIM:616858
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Testicular neoplasm, Abdominal distention, Anemia, Abdominal pain, Sa...	ORPHA:83469
Ovarian Dysgenesis 9	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar...	OMIM:619665
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	OMIM:605911
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Immunodeficiency 102	Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio...	OMIM:301082
Glanzmann Thrombasthenia	Gingival bleeding, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Bruisi...	ORPHA:849
Familial Adenomatous Polyposis 4	Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Astrocytoma, Breast intraductal papi...	OMIM:617100
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Nausea and vomiting, Feeding difficulties in infancy,...	ORPHA:99976
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Hepatic...	ORPHA:209902
Perrault Syndrome 6	Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl...	OMIM:617565
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test...	OMIM:614841
Hepatic Adenomas, Familial	Hepatocellular adenoma, Maturity-onset diabetes of the young, Polycystic ovaries	OMIM:142330
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Diarrhea, Hematochezia, Abdominal distention	ORPHA:103910
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Apolipoprotein C-Ii Deficiency	Increased circulating chylomicron concentration, Splenomegaly, Hypercholesterolemia, Decreased ci...	OMIM:207750
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Granulom...	OMIM:619802
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Premature Ovarian Failure 7	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Elevate...	OMIM:612964
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, T...	OMIM:618462
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Dec...	ORPHA:168563
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra...	OMIM:619662
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Diarrhea, Vomiting, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Malabs...	OMIM:226300
Coronary Artery Disease, Autosomal Dominant 2	Increased LDL cholesterol concentration, Hypertriglyceridemia	OMIM:610947
Lynch Syndrome	Neoplasm of the skin, Colon cancer, Nausea and vomiting, Neoplasm of the skeletal system, Neoplas...	ORPHA:144
Malignant Peritoneal Mesothelioma	Ileus, Neoplasm, Peritonitis, Abdominal distention, Abdominal pain	ORPHA:168811
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Lymphopenia, Leukopenia, Naus...	ORPHA:319218
Premature Ovarian Failure 18	Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ...	OMIM:619203
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Hypertrophic cardiomyopat...	ORPHA:464321
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Hemoglobin E-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration	ORPHA:231249
Ovarian Dysgenesis 6	Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar...	OMIM:618078
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Gynecomastia, Adrenal hyperplasia, Elevated circulating 21-deoxycortisol concentration, Adrenogen...	OMIM:201910
Diamond-Blackfan Anemia 17	Anemia	OMIM:617409
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia	DECIPHER:16
Immunodeficiency 15B	Reduced natural killer cell count, Monocytosis	OMIM:615592
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hyper...	ORPHA:369
Oncogenic Osteomalacia	Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon...	ORPHA:352540
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Premature Ovarian Failure 6	Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul...	OMIM:612310
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Nep...	OMIM:194072
Juvenile Nasopharyngeal Angiofibroma	Juvenile colonic polyposis, Juvenile nasopharyngeal angiofibroma	ORPHA:289596
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary, Wide intermamillary distance	ORPHA:1875
Immunodeficiency 104	Gastroesophageal reflux, Splenomegaly, Lymphadenopathy, Hepatomegaly, T lymphocytopenia	OMIM:608971
Nephrotic Syndrome, Type 2	Hypoalbuminemia, Hyperlipidemia	OMIM:600995
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Anemia, Neutropenia...	OMIM:603552
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hepatomegaly, Hypertriglyceridemia	OMIM:615924
46,Xx Testicular Difference Of Sex Development	Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries	ORPHA:393
Idiopathic Copper-Associated Cirrhosis	Cirrhosis, Hepatic steatosis, Increased circulating copper concentration, Copper accumulation in ...	ORPHA:209919
Ovarian Dysgenesis 7	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva...	OMIM:618117
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Premature Ovarian Failure 5	Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu...	OMIM:611548
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	Abnormally low T cell receptor excision circle level, T lymphocytopenia	OMIM:618806
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Immunodeficiency 19	Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology	OMIM:615617
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Hematochezia, Intrahepatic cholestasis, Hepatic failure, Diarrhea, Hep...	OMIM:613812
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, ...	ORPHA:131
Limb-Mammary Syndrome	Alopecia, Absent nipple, Sparse eyebrow, Breast aplasia, Aplasia of the ovary, Aplasia of the ute...	ORPHA:69085
Blue Rubber Bleb Nevus	Intestinal bleeding, Prolonged bleeding time, Volvulus, Microcytic anemia, Gastrointestinal infar...	ORPHA:1059
Normosmic Congenital Hypogonadotropic Hypogonadism	Sparse body hair, Absence of pubertal development, Non-obstructive azoospermia, Cryptorchidism, I...	ORPHA:432
Erythroleukemia, Familial, Susceptibility To	Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia, ...	OMIM:133180
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee	Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Mildly elevated creat...	OMIM:618400
Ovarian Dysgenesis 10	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas...	OMIM:619834
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Immunodeficiency 20	Reduced natural killer cell count	OMIM:615707
Juvenile Polyposis Syndrome	Abnormal onset of bleeding, Diarrhea, Stomach cancer, Juvenile gastrointestinal polyposis, Multip...	ORPHA:2929
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Lymphopenia, T lymphocytopenia, Verrucae	OMIM:618309
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Villous a...	OMIM:619510
Immunodeficiency 54	Reduced natural killer cell count, Splenomegaly, Lymphadenopathy, Hepatomegaly, Lymphoproliferati...	OMIM:609981
Lymphoproliferative Syndrome, X-Linked, 2	Inflammation of the large intestine, Aplastic anemia, Hepatitis, Hemophagocytosis, Increased circ...	OMIM:300635
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive	Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina...	OMIM:616516
Premature Ovarian Failure 8	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated...	OMIM:615723
Cholesteryl Ester Storage Disease	Hepatic bridging fibrosis, Acute hepatic failure, Increased LDL cholesterol concentration, Hepato...	OMIM:278000
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Hyperlipidemia, Splenomegaly, Portal hypertension, Biliary tract abn...	ORPHA:1414
Fatty Liver Disease, Susceptibility To, 1	Hepatic steatosis	OMIM:613282
Fatty Liver Disease, Susceptibility To, 2	Hepatic steatosis	OMIM:613387
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Stomach cancer, Cleft palate	OMIM:137215
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
Restrictive Dermopathy 2	Gastroesophageal reflux, Rectal prolapse, Feeding difficulties	OMIM:619793
Tetraamelia Syndrome 2	Micropenis, Absent nipple	OMIM:618021
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Intrahepa...	OMIM:214950
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency	Increased HDL cholesterol concentration, Hypertriglyceridemia	ORPHA:140905
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Failure to thrive, Abnormal circulating androgen level, Inc...	ORPHA:90790
Lipodystrophy, Familial Partial, Type 5	Hepatomegaly, Hepatic steatosis, Increased C-peptide level, Hypertriglyceridemia	OMIM:615238
Pyloric Atresia	Congenital pyloric atresia	OMIM:265950
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Absent nipple, Brittle hair, Absent hair	OMIM:614940
Diarrhea 13	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	OMIM:620357
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Subdural hemorrhage, Excessive bleedin...	OMIM:273800
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo...	OMIM:614941
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Pancytopenia, Villous atrophy, Splenomegaly, Enterocolitis, Th...	OMIM:616050
Lipodystrophy, Familial Partial, Type 4	Hepatic steatosis, Hypertriglyceridemia	OMIM:613877
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Fibrosarcoma, Osteosarcoma, Histiocytoma	OMIM:112250
Estrogen Resistance	Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul...	OMIM:615363
Plin1-Related Familial Partial Lipodystrophy	Hepatic fibrosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:280356
Wiskott-Aldrich Syndrome	Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Inflammation of the large inte...	ORPHA:906
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Absence of pubertal development, Decreased testicular size, Azoospermia, Gynecomastia, Cryptorchi...	OMIM:614837
Hypobetalipoproteinemia, Familial, 1	Decreased HDL cholesterol concentration, Hypocholesterolemia, Elevated circulating aspartate amin...	OMIM:615558
Glycogen Storage Disease Ixc	Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Splenomega...	OMIM:613027
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Lecithin:Cholesterol Acyltransferase Deficiency	Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa...	ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 16	Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino...	OMIM:615395
46,Xy Sex Reversal 3	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Reduced natural killer cell count, Hypoplasia of the thymus, Impaired lymphocyte transformation w...	OMIM:619313
Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration	OMIM:614266
Protoporphyria, Erythropoietic, 1	Cholelithiasis, Hepatic failure, Hypertriglyceridemia	OMIM:177000
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Ovarian Dysgenesis 5	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f...	OMIM:617690
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Diarrhea, Vomiting, Microangiopathic hemolytic anemia, Bloody diarrhea, Acute colitis, Leukocytos...	ORPHA:90038
Premature Ovarian Failure 13	Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen...	OMIM:617442
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypothyro...	OMIM:612885
Diamond-Blackfan Anemia	Webbed neck, Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence ...	ORPHA:124
Isobutyryl-Coa Dehydrogenase Deficiency	Anemia, Decreased circulating carnitine concentration, Dilated cardiomyopathy	OMIM:611283
Adult Syndrome	Absent nipple, Wide intermamillary distance, Fair hair, Breast hypoplasia, Alopecia of scalp, Spa...	OMIM:103285
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Amed Syndrome, Digenic	Failure to thrive, Acute myeloid leukemia, Adrenal hypoplasia, Hypoplasia of the uterus, Myelodys...	OMIM:619151
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphoma...	ORPHA:276
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Grfoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97261
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo...	ORPHA:3130
Nipples, Supernumerary	Supernumerary nipple	OMIM:163700
Ppoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97278
Perrault Syndrome 4	Decreased serum estradiol, Obesity, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, ...	OMIM:615300
Adult Syndrome	Alopecia, Absent nipple, Fine hair, Breast hypoplasia, Hypoplastic nipples, Sparse scalp hair	ORPHA:978
Somatostatinoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97283
Dyskeratosis Congenita, Autosomal Recessive 8	Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti...	OMIM:620133
Amoebiasis Due To Entamoeba Histolytica	Diarrhea, Protracted diarrhea, Bloody diarrhea, Congestive heart failure, Leukocytosis, Intestina...	ORPHA:67
Dietary Iron Overload Disease	Hepatic bridging fibrosis, Hepatic fibrosis, Increased circulating cortisol level, Abnormal pancr...	ORPHA:139507
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Premature Ovarian Failure 3	Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea	OMIM:608996
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Fibrosarcoma, Metrorrhagia, Diffuse leiomyomatos...	ORPHA:314478
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Hemoglobin-Delta locus	Anemia, Imbalanced hemoglobin synthesis	OMIM:142000
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i...	OMIM:201810
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Bruising suscept...	OMIM:203300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Absence of secondary sex characteristics, Breast hypoplasia,...	ORPHA:2235
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia	OMIM:620534
Hereditary Leiomyomatosis And Renal Cell Cancer	Barrett esophagus, Cutaneous leiomyoma, Papillary renal cell carcinoma type 2, Vaginal neoplasm, ...	ORPHA:523
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Familial Hyperprolactinemia	Hemorrhagic ovarian cyst, Infertility, Galactorrhea, Amenorrhea, Oligomenorrhea, Female hypogonad...	ORPHA:397685
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypogonadism, Hypoplastic nipples, Sparse hair, Hypoplastic areola	OMIM:273400
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Hyperlipoproteinemia, Type Id	Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Splenom...	OMIM:615947
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
46,Xy Sex Reversal 7	Hypoplasia of the fallopian tube, Streak ovary, Dysgerminoma, Abnormal epididymis morphology, Gon...	OMIM:233420
Glycogen Storage Disease Iii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Elevat...	OMIM:232400
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Nonketotic hyperglycinemia	ORPHA:941
Zollinger-Ellison Syndrome	Diarrhea, Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Intestinal ...	ORPHA:913
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Premature Ovarian Failure 9	Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir...	OMIM:615724
Schopf-Schulz-Passarge Syndrome	Poroma, Apocrine hidrocystoma, Sparse body hair, Small nail, Ridged nail, Nail dystrophy, Narrow ...	OMIM:224750
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Decreased liver functio...	ORPHA:85450
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Diarrhea, Decreased proportion of CD8-pos...	OMIM:301000
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia, Refract...	OMIM:619523
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Hypogonadotropic Hypogonadism 25 With Anosmia	Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-...	OMIM:618841
Huriez Syndrome	Squamous cell carcinoma of the skin, Small nail, Nail dystrophy	OMIM:181600
Ovarian Fibroma	Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ...	ORPHA:314473
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Adrenocortical adenoma, Pheochromocytoma, Nausea and vomit...	ORPHA:139411
Cerebellar Ataxia-Hypogonadism Syndrome	Supernumerary nipple, Hypogonadism, Gynecomastia, Decreased fertility, Hypogonadotropic hypogonad...	ORPHA:1173
Premature Ovarian Failure 21	Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll...	OMIM:620311
Maffucci Syndrome	Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A...	ORPHA:163634
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,...	OMIM:620058
Obesity Due To Congenital Leptin Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:66628
Immunodeficiency 109 With Lymphoproliferation	Hodgkin lymphoma, Splenomegaly, Hypertriglyceridemia	OMIM:620282
Hypercholesterolemia, Familial, 3	Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration	OMIM:603776
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Hi...	OMIM:615830
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Premature ovarian insufficiency, Hypoplasia of the ovary	OMIM:609993
46,Xy Partial Gonadal Dysgenesis	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnormal vagina morphology,...	ORPHA:251510
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Decreased circulating carnitine concentration, Eleva...	ORPHA:71212
Tyrosinemia, Type I	Hypermethioninemia, Elevated circulating alpha-fetoprotein concentration, Gastrointestinal hemorr...	OMIM:276700
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse body hair, Decreased fertility, Cryptorchi...	ORPHA:90796
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia	ORPHA:71529
Ectodermal Dysplasia With Adrenal Cyst	Breast hypoplasia, Hypoplastic nipples, Abnormality of the endocrine system	OMIM:129550
Obesity Due To Leptin Receptor Gene Deficiency	Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte...	ORPHA:179494
Barber-Say Syndrome	Sparse eyebrow, Absent nipple, Hypertrichosis, Cryptorchidism, Inverted nipples, Sparse eyelashes...	OMIM:209885
Analbuminemia	Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat...	OMIM:616000
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neop...	ORPHA:440437
Glucagonoma	Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int...	ORPHA:97280
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Decreased liver function, Anorexia, Hepatospl...	ORPHA:98850
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage	OMIM:602248
46,Xx Gonadal Dysgenesis	Decreased serum estradiol, Aplasia/Hypoplasia of the breasts, Sparse pubic hair, Aplasia/hypoplas...	ORPHA:243
Acrorenal-Mandibular Syndrome	Absent nipple, Uterus didelphys, Abnormality of the breast, Unicornuate uterus, Bicornuate uterus	OMIM:200980
Alpha-Heavy Chain Disease	Alopecia, Lymphoma, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Anemia, Abd...	ORPHA:100025
Autoimmune Polyendocrinopathy Type 1	Alopecia, Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circ...	ORPHA:3453
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Decreased FOXP3-expressing T cell count, Villous atrophy, Ileus, Chronic diarrhea, Eosi...	OMIM:304790
Distal Myopathy, Tateyama Type	Abnormal circulating creatine kinase concentration, Hypercholesterolemia	ORPHA:488650
Werner Syndrome	Alopecia of scalp, Meningioma, Osteosarcoma	OMIM:277700
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Cryptorchidism, Lactose intolerance, Hemangioma, Protuberant abdomen, Curly hair, Intestinal polyp	ORPHA:457485
Lipodystrophy, Familial Partial, Type 6	Hyperlipidemia, Hepatic steatosis, Abnormal circulating lipid concentration, Elevated circulating...	OMIM:615980
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Hyperphosphatemia, Abdominal pain, Tachycardia, Hyperkalemia, Shock, Elevated circulati...	ORPHA:340
Hypercholesterolemia, Familial, 2	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia	OMIM:144010
Hyperlipoproteinemia, Type I	Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid...	OMIM:238600
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Spontaneous h...	ORPHA:274
Familial Hyperaldosteronism Type I	Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre...	ORPHA:403
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid...	ORPHA:404
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Clitoral hypertrophy, Hydrocele testis, Increased serum testoster...	ORPHA:96181
Estrogen Resistance Syndrome	Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea...	ORPHA:785
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti...	OMIM:175050
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Colon cancer, Sparse body hair, Fundic gland polyposis, Sparse axillary hair, ...	OMIM:608615
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p...	OMIM:618204
Refractory Anemia	Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro...	ORPHA:98826
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, Renal cortical adenoma, Papill...	ORPHA:97290
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m...	ORPHA:3411
Immunodeficiency 68	Lymphadenitis, Abscess, B lymphocytopenia, Abnormal natural killer cell count, T lymphocytopenia	OMIM:612260
Secondary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal bleeding, Vomiting, Abdominal colic,...	ORPHA:90363
Combined Oxidative Phosphorylation Deficiency 21	Hyperprolinemia, Hyperalaninemia, Hepatic steatosis	OMIM:615918
Akt2-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia	ORPHA:79085
Caroli Syndrome	Hepatic failure, Abnormal bleeding, Hypersplenism, Leukopenia, Leukocytosis, Hyperbilirubinemia, ...	ORPHA:480520
Multiple Endocrine Neoplasia Type 1	Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Shortened QT in...	ORPHA:652
Body Mass Index Quantitative Trait Locus 19	Hyperlipidemia, Hypertriglyceridemia	OMIM:617885
Benign Schwannoma	Peripheral schwannoma, Schwannoma, Intestinal polyposis, Vestibular schwannoma, Scleral schwannom...	ORPHA:252164
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Familial Melanoma	Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Neoplasm of the stomach, Neoplasm o...	ORPHA:618
Immunodeficiency 114, Folate-Responsive	Increased circulating ferritin concentration, Postnatal growth retardation, Lymphopenia, Splenome...	OMIM:620603
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Splenomegaly, Hyper...	OMIM:618398
Leydig Cell Hypoplasia	Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema...	ORPHA:755
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu...	ORPHA:766
Trichothiodystrophy 1, Photosensitive	Fine hair, Trichorrhexis nodosa, Tiger tail banding, Malabsorption, Nail dystrophy, Intestinal ob...	OMIM:601675
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Hep...	OMIM:619013
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Retinoblastoma	Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma, Leukemi...	ORPHA:790
Hyperinsulinemic Hypoglycemia, Familial, 8	Increased C-peptide level, Hypercholesterolemia, Hyperammonemia	OMIM:620211
Mismatch Repair Cancer Syndrome 3	Lymphoma, Astrocytoma, Neoplasm of the rectum, Lisch nodules, T-cell lymphoma, Glioblastoma multi...	OMIM:619097
Bleeding Disorder, Platelet-Type, 19	Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope...	OMIM:616176
Becker Nevus Syndrome	Aplasia/Hypoplasia of the breasts, Supernumerary nipple, Abnormal scrotum morphology, Hamartoma, ...	ORPHA:64755
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa...	ORPHA:247598
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Hypotension, Bruising suscep...	ORPHA:99828
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypoalbuminemia, Hypercholesterolemia	ORPHA:94124
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t...	OMIM:277000
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoma, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Decreased...	OMIM:300853
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Microcytic anemia, Gastrointesti...	ORPHA:903
Pancreatic Lipase Deficiency	Steatorrhea, Hypocholesterolemia, Fat malabsorption	OMIM:614338
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Frontal balding, Increased c...	ORPHA:786
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Malabsorption, Abnormal bleeding, Splenomegaly	ORPHA:79301
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Intellectual Developmental Disorder, Autosomal Dominant 47	Thin eyebrow, Small for gestational age, Cryptorchidism, Supernumerary nipple	OMIM:617635
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Dilated cardiomyopathy, Cardiomyopathy, Conges...	OMIM:615895
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Vasculitis, Co...	OMIM:617718
Waardenburg Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Intestinal obstruction, A...	ORPHA:3440
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro...	OMIM:619041
Citrullinemia Type Ii	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:247585
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypoalbuminemia, Hypercholesterolemia	OMIM:607250
Cowden Syndrome 1	Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, L...	OMIM:158350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia	OMIM:608600
Reticular Dysgenesis	Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus	OMIM:267500
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Gastrointestinal hemorrhage, Pancytopenia, ...	OMIM:617341
Lipodystrophy, Partial, Acquired, Susceptibility To	Hepatic steatosis, Abnormal circulating lipid concentration	OMIM:608709
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Hypoplastic nipples, Hypoplastic female external genitalia, Hypospadias	OMIM:177980
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co...	OMIM:273250
Cowden Syndrome 6	Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, F...	OMIM:615109
Frasier Syndrome	Decreased serum estradiol, Streak ovary, Nephroblastoma, Ambiguous genitalia, male, Male pseudohe...	ORPHA:347
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Decreased plasma free carnitine, H...	OMIM:619048
Mandibuloacral Dysplasia	Increased circulating free fatty acid level, Abnormal tongue morphology, Hypercholesterolemia, Hy...	ORPHA:2457
Brooke-Spiegler Syndrome	Skin appendage neoplasm, Abnormality of the submandibular glands, Salivary gland neoplasm, Basal ...	ORPHA:79493
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT...	OMIM:615954
Mccune-Albright Syndrome	Hyperparathyroidism, Pituitary adenoma, Increased circulating prolactin concentration, Intestinal...	OMIM:174800
Focal Segmental Glomerulosclerosis 1	Anemia, Hypertension, Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Thrombocytopenia 5	Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi...	OMIM:616216
Autosomal Dominant Spastic Paraplegia Type 29	Hiatus hernia, Abnormal rectum morphology	ORPHA:101009
Bannayan-Riley-Ruvalcaba Syndrome	Abnormal large intestine morphology, Uterine neoplasm, Lymphoma, Capillary hemangioma, Meningioma...	ORPHA:109
Immunodeficiency 13	Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp...	OMIM:615518
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia	ORPHA:231393
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Pancytopenia, Nausea and vomiting, Anorexia, Neutrophilia, Abdominal...	ORPHA:99827
Ollier Disease	Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma	ORPHA:296
Combined Oxidative Phosphorylation Deficiency 34	Hepatic failure, Elevated circulating creatinine concentration, Hepatic steatosis, Increased bloo...	OMIM:617872
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Abnormality of the gastrointestinal tract, Elevated circulating hepatic transaminase concentratio...	ORPHA:2089
Cowden Syndrome 5	Colonic diverticula, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Furrowed tongue, O...	OMIM:615108
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Ichthyosis With Confetti	Hypoplastic nipples, Hypertrichosis, Decreased body weight	OMIM:609165
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo...	OMIM:614842
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Increased total bilirubin, Cholestasis,...	OMIM:618528
Dubowitz Syndrome	Anal stenosis, Abnormality of neutrophils, Sparse lateral eyebrow, Lymphoma, Fine hair, Neoplasm,...	ORPHA:235
Diamond-Blackfan Anemia 21	Coarse hair, Horizontal eyebrow, Osteosarcoma, Widow's peak, Synophrys	OMIM:620072
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	B-cell lymphoma, Burkitt lymphoma, Osteochondroma	OMIM:620232
Igg4-Related Aortitis	Abdominal pain, Hypereosinophilia, Intestinal obstruction	ORPHA:449400
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Gracile Syndrome	Increased circulating ferritin concentration, Cholestasis, Hepatic steatosis, Cirrhosis, Elevated...	ORPHA:53693
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Sparse eyelashes, Aplasia/Hypoplastia...	OMIM:305100
Cernunnos-Xlf Deficiency	Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia	ORPHA:169079
Acute Erythroid Leukemia	Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, Erythroid hypoplasia, Anemia, ...	ORPHA:318
Primary Sclerosing Cholangitis	Acute hepatic failure, Hepatosplenomegaly, Splenomegaly, Abdominal pain, Chronic hepatic failure,...	ORPHA:171
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries	ORPHA:242
Porphyria, Acute Intermittent	Vomiting, Diarrhea, Paralytic ileus, Abdominal pain, Constipation, Reduced erythrocyte porphobili...	OMIM:176000
Immunodeficiency 16	Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma	OMIM:615593
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Eosinophilic infiltration of the esophagus, Abdominal pain, High palate,...	OMIM:147060
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Increased circulating dehydroepiandrosterone-sulfate concentration...	OMIM:158330
Scarf Syndrome	Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Low posterior hairline, Hypoplastic ...	ORPHA:3134
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero...	ORPHA:325124
Rothmund-Thomson Syndrome, Type 2	Alopecia, Sparse eyebrow, Annular pancreas, Premature graying of hair, Cryptorchidism, Nail dystr...	OMIM:268400
Polycystic Ovary Syndrome 1	Obesity, Hirsutism, Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Rift Valley Fever	Gingival bleeding, Abnormal bleeding, Anorexia, Retinal hemorrhage, Hematemesis, Thrombocytopenia...	ORPHA:319251
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple	OMIM:104350
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Increased serum estradiol, Absent axillary hair, ...	ORPHA:99429
Cidec-Related Familial Partial Lipodystrophy	Hepatomegaly, Pancreatitis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:435651
Joubert Syndrome 13	Molar tooth sign on MRI	OMIM:614173
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Hematochezia, Giant cell hepatitis, Elevated circulating hepatic trans...	ORPHA:79095
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Gastroesophageal reflux, Recurrent intrapulmonary hemorrhage, Hypertrophic cardiomyop...	ORPHA:183
Familial Chylomicronemia Syndrome	Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipidemia, Hepatic stea...	ORPHA:444490
Castleman Disease	Nausea and vomiting, Intestinal obstruction, Abnormality of the gastrointestinal tract, Thrombocy...	ORPHA:160
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased...	OMIM:618620
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Neutropenia, High palate	OMIM:619752
Lipodystrophy, Familial Partial, Type 3	Hepatic steatosis, Hyperuricemia, Hypertriglyceridemia, Cirrhosis, Decreased HDL cholesterol conc...	OMIM:604367
Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Sparse pubic hair, Neoplasm, Gynecomastia, Sparse...	OMIM:300068
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, E...	ORPHA:79303
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat...	ORPHA:26793
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Leukopenia, Portal hypertension, S...	ORPHA:64743
Short Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Hepatic steatosis	ORPHA:26792
Global Developmental Delay With Speech And Behavioral Abnormalities	Precocious puberty, Cryptorchidism, Supernumerary nipple	OMIM:619243
Zygomycosis	Diarrhea, Ileitis, Colitis, Hematological neoplasm, Neutropenia, Abdominal pain, Gastrointestinal...	ORPHA:73263
Familial Papillary Or Follicular Thyroid Carcinoma	Follicular thyroid carcinoma, Goiter, Neoplasm of head and neck, Papillary renal cell carcinoma, ...	ORPHA:319487
Pgm3-Cdg	Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Gastroeso...	ORPHA:443811
Fanconi Anemia, Complementation Group G	Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia	OMIM:614082
Chylomicron Retention Disease	Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ...	ORPHA:71
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Rothmund-Thomson Syndrome Type 1	Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Alopecia totalis, Sparse or absent eyela...	ORPHA:221008
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Polycythemia, Facial telangiectasia...	OMIM:600376
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Joint hemorrhage, Menorrhagia	OMIM:605735
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Obesity, Decreased fertility, Cryptorchidism, Hypoplas...	ORPHA:3138
Combined Oxidative Phosphorylation Deficiency 52	Elevated circulating aspartate aminotransferase concentration, Hyperglycinemia, Hepatic steatosis...	OMIM:619386
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ovary, Primary amenorrh...	ORPHA:2232
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, Myelodysplasia, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Neutrophilia, Hematochezia, Leukocytosis, Autoimmune hemolytic anemia, Splenomegaly, Paralytic il...	OMIM:620565
Macrophage Activation Syndrome	Hypoalbuminemia, Hepatitis, Decreased liver function, Increased circulating ferritin concentratio...	ORPHA:158061
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Alopecia, Abnormal libido, Pituitary adenoma, Increased circulating corti...	ORPHA:189427
Griscelli Syndrome Type 1	Hyperlipidemia	ORPHA:79476
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Hypoplasia of the pons, ...	OMIM:616202
Dysbetalipoproteinemia	Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hepatic steatosis, Hy...	ORPHA:412
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hyperlipidemia, Mildly elevated creatine kinase	OMIM:604484
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Choroidal Atrophy-Alopecia Syndrome	Fine hair, Supernumerary nipple, Ungual fibroma, Thin eyebrow, Sparse or absent eyelashes, Sparse...	ORPHA:1433
Rothmund-Thomson Syndrome Type 2	Sparse hair, Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Alopecia totalis, Sparse or ab...	ORPHA:221016
Combined Immunodeficiency Due To Dock8 Deficiency	Verrucae, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, B lymphocytopenia, T lym...	ORPHA:217390
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Sparse hair, Sparse eyebrow, Absent nipple, Congenital hypothyroidism, Nail dystrophy, Aplasia of...	OMIM:620186
Autoimmune Lymphoproliferative Syndrome, Type Iia	Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, El...	OMIM:603909
Mpi-Cdg	Protein-losing enteropathy, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Decreased liver func...	ORPHA:79319
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Arrhythmia, Constipation, Abdomin...	ORPHA:99745
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De...	ORPHA:95699
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Hidrotic Ectodermal Dysplasia, Halal Type	Irregular menstruation, Sparse body hair, Supernumerary nipple, Absent eyelashes, Trichodysplasia...	ORPHA:1809
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries	ORPHA:2229
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Anemia, Hypochromic Microcytic, With Iron Overload 1	Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir...	OMIM:206100
Cog4-Cdg	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Recurrent infection ...	ORPHA:263501
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Macroglossia, Reduced natural killer cell count, T lymphocytopenia, Protruding tongue	OMIM:242860
Polycythemia Vera	Gingival bleeding, Early satiety, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism...	ORPHA:729
Immunodeficiency 43	Reduced natural killer cell count, Lung abscess, B lymphocytopenia	OMIM:241600
Barber-Say Syndrome	Failure to thrive, Breast aplasia, Sparse or absent eyelashes, Generalized hirsutism, Hypoplastic...	ORPHA:1231
Mucoepithelial Dysplasia, Hereditary	Furrowed tongue, Corneal neovascularization, Eosinophilia, Melena, Chronic diarrhea	OMIM:158310
Partial Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Increased serum estradiol, ...	ORPHA:90797
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Hemochromatosis, Type 4	Increased circulating ferritin concentration, Hepatic steatosis, Cirrhosis, Hepatomegaly, Elevate...	OMIM:606069
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Microcytic anemia, Hem...	ORPHA:90308
Severe Neurodegenerative Syndrome With Lipodystrophy	Hepatomegaly, Cirrhosis, Hepatic steatosis, Hypertriglyceridemia	ORPHA:363400
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ...	OMIM:202700
Congenital Disorder Of Glycosylation, Type Iir	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ...	OMIM:301045
Cystic Fibrosis	Diarrhea, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ileus, Rectal prolapse, Steatorr...	OMIM:219700
Fontaine Progeroid Syndrome	Small scrotum, Absent nipple, Coarse hair, Failure to thrive, Hypertrichosis, Cryptorchidism, Low...	OMIM:612289
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c...	OMIM:187300
Delta-Beta-Thalassemia	Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231237
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la...	OMIM:301074
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Fibrous Dysplasia Of Bone	Thyroid carcinoma, Cutaneous myxoma, Ovarian cyst, Hyperpituitarism, Elevated circulating growth ...	ORPHA:249
Tangier Disease	Hypertriglyceridemia, Splenomegaly, Elevated circulating apolipoprotein A-II concentration, Decre...	OMIM:205400
Sandifer Syndrome	Gastroesophageal reflux, Esophagitis, Hiatus hernia, Hematemesis, Episodic vomiting, Anemia, Feed...	ORPHA:71272
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Hirsutism, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia	ORPHA:2795
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Elevated circulating ...	OMIM:615381
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia, Myelodysplasia	OMIM:617827
Bardet-Biedl Syndrome 6	External genital hypoplasia, Obesity, Vaginal atresia, Hypospadias, Diabetes mellitus	OMIM:605231
Chylous Ascites	Abnormal intestine morphology, Neoplasm	ORPHA:1160
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega...	ORPHA:2133
Baller-Gerold Syndrome	Lymphoma, Osteosarcoma	ORPHA:1225
Familial Hyperaldosteronism Type Iii	Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran...	OMIM:255120
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp...	ORPHA:231401
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries	ORPHA:1643
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Hepatic failure, Hepatic steatosis	OMIM:261650
19Q13.11 Microdeletion Syndrome	Wide intermamillary distance, Failure to thrive, Bifid scrotum, Supernumerary nipple, Sparse late...	ORPHA:217346
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Satoyoshi Syndrome	Alopecia, Alopecia universalis, Hypoplasia of the uterus, Amenorrhea	OMIM:600705
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, High palate, Colo...	ORPHA:201
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:264580
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ...	OMIM:267700
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Hyperammonemia, Elevated circulating cre...	OMIM:600649
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Lymphoma, Leukopenia, Acute myeloid leukemia, Monocytosis, Myelodysplasia, Refractory anemia	OMIM:616871
Congenital Generalized Lipodystrophy	Hepatic steatosis, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Macroglos...	ORPHA:528
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level...	ORPHA:1359
Fanconi-Bickel Syndrome	Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Abnormal hepatic ...	ORPHA:2088
Autoerythrocyte Sensitization Syndrome	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Bruising susceptibility, Abnormal ery...	ORPHA:324636
Porphyria Variegata	Hypertrichosis, Ileus, Abdominal pain, Constipation, Anemia, Nausea, Hepatocellular carcinoma	ORPHA:79473
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Hematochezia, Vasculitis, Diarrhea, Hypertrophic cardiomyopathy, Pancytopenia...	OMIM:615846
Erythrocytosis, Familial, 1	Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob...	OMIM:133100
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes...	OMIM:278850
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Immunodeficiency 69	Diarrhea, Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Pan...	OMIM:618963
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co...	ORPHA:75564
Branchioskeletogenital Syndrome	Highly arched eyebrow, Absent external genitalia, Absent nipple, Penoscrotal hypospadias, Micrope...	ORPHA:1299
Stolerman Neurodevelopmental Syndrome	Hypoplastic nipples, Hemangioma, Cryptorchidism	OMIM:618505
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Gastroesophageal reflux, Hyperlipidemia, Hypoproteinemia, Pyloric stenosis	OMIM:256300
Lipe-Related Familial Partial Lipodystrophy	Hepatomegaly, Hepatic steatosis, Hypertriglyceridemia, Elevated circulating creatine kinase conce...	ORPHA:435660
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Intestinal lymphangiectasia, Cryptorchidism, Hirsutism, Narrow palate...	OMIM:235510
Immunodeficiency 67	Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Abnormal natural killer cell...	OMIM:607676
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	High palate, Hypercholesterolemia	ORPHA:254531
Ehlers-Danlos Syndrome, Periodontal Type, 2	Nephroblastoma, Colon cancer	OMIM:617174
Griscelli Syndrome Type 2	Hepatomegaly, Jaundice, Hyperlipidemia, Splenomegaly	ORPHA:79477
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperplasia of liver, Biliary cirrhosis, ...	OMIM:620454
Scarf Syndrome	Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Low anterior hairline, Low posterior...	OMIM:312830
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Osteoma, Intestinal bleeding, Duodenal polyposis, Low posterior hairline, Hepatoblastoma, Iron de...	ORPHA:261584
Galactokinase Deficiency	Hepatosplenomegaly, Hypercholesterolemia, Increased level of galactitol in plasma, Hepatomegaly, ...	ORPHA:79237
Pyloric Stenosis, Infantile Hypertrophic, 1	Projectile vomiting, Pyloric stenosis	OMIM:179010
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre...	OMIM:603902
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin	OMIM:620443
Rhabdoid Tumor	Nausea and vomiting, Renal neoplasm, Hypertension, Neoplasm of the liver, Internal hemorrhage, Th...	ORPHA:69077
Sanjad-Sakati Syndrome	Hypoparathyroidism, Congenital hypoparathyroidism, Cryptorchidism, Intestinal obstruction	ORPHA:2323
Renal, Genital, And Middle Ear Anomalies	Vaginal atresia	OMIM:267400
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransferase c...	OMIM:618805
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Malaria	Hyperbilirubinemia, Nausea and vomiting, Elevated circulating C-reactive protein concentration, T...	ORPHA:673
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Lcat Deficiency	Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole...	ORPHA:650
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Decreased circulating carnitine concentration, Gastroesophageal reflux, Hepa...	OMIM:201475
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Sparse pubic hair, Primary amenorrhea, Decreased se...	ORPHA:52901
Infantile Liver Failure Syndrome 3	Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ...	OMIM:618641
Glycogen Storage Disease Ixb	Splenomegaly, Hyperuricemia, Increased hepatic glycogen content, Hepatomegaly, Increased muscle g...	OMIM:261750
Hyperbilirubinemia, Shunt, Primary	Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Anemia of inadequate production, Reticul...	OMIM:237800
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Vaginal neoplasm, Stomach cancer, Intestinal polyposis, Myelodysplasia, Nephrob...	ORPHA:1052
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Diarrhea, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyper...	OMIM:235400
Trimethylaminuria	Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension	OMIM:602079
Woods Syndrome	Frontal hirsutism, Supernumerary nipple	OMIM:615236
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Vomiting, Malnutrition, Abnormality of the sp...	ORPHA:79456
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypoalbuminemia, Abnormal circulating lipid concentration, Peritonitis, Hypercholesterolemia, Hyp...	ORPHA:567548
Temple Syndrome	Bifid uvula, Hypercholesterolemia, Hypertriglyceridemia, High palate, Cleft palate	OMIM:616222
Monosomy 13Q34	Hematochezia, Epistaxis, Hepatic steatosis, Prolonged prothrombin time, Pulmonic stenosis	ORPHA:96168
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Hepatomegaly, Abnormal circulating creatine kinase concentration, Elevated circulating hepatic tr...	ORPHA:369840
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Palpitations, Hypertension associated with pheochro...	OMIM:115310
Tyshchenko Syndrome	Low anterior hairline, Cryptorchidism, Thick hair, Supernumerary nipple	OMIM:615102
Bile Acid Synthesis Defect, Congenital, 1	Intrahepatic cholestasis, Hepatic failure, Elevated circulating hepatic transaminase concentratio...	OMIM:607765
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatomegaly, Transient hyperlipidemia, Elevated circulating hepatic transaminase concentration, ...	ORPHA:156
Limb-Mammary Syndrome	Hypoplastic nipples	OMIM:603543
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Anemia, M...	OMIM:187800
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Reduced natural killer cell count, Cutaneous abscess, Decreased proportion of CD4-positive helper...	OMIM:243700
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating acylcarnitine concentration, Hepatic failure, Elevated circulating hepatic t...	ORPHA:228305
Waldenström Macroglobulinemia	Normocytic anemia, Gingival bleeding, Monoclonal immunoglobulin M proteinemia, Gastrointestinal h...	ORPHA:33226
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells...	OMIM:611926
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Lymphoma, Hepatic steatosis, Astrocytoma, Cirrhosis, Hy...	ORPHA:79086
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Martin-Probst Syndrome	Wide intermamillary distance, Bifid scrotum, Cryptorchidism, Chordee, Hypoplastic nipples, Hypoth...	OMIM:300519
Hypermethioninemia Due To Adenosine Kinase Deficiency	Hypermethioninemia, Portal fibrosis, Elevated circulating S-adenosyl-L-homocysteine concentration...	OMIM:614300
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Meningioma, Neoplasm, Cryptorchidism, Pilomatrixoma, Spinal cord tumor	ORPHA:353281
Seckel Syndrome 7	Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea	OMIM:614851
Primary Biliary Cholangitis	Hypoalbuminemia, Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Abnormal circul...	ORPHA:186
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia	ORPHA:369929
Hydrolethalus Syndrome 2	Micrognathia, Anencephaly, Hydrocephalus, Molar tooth sign on MRI	OMIM:614120
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatosplenomegaly, Recurrent inf...	ORPHA:35078
Immunodeficiency 115 With Autoinflammation	Verrucae, Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anem...	OMIM:620632
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Synophrys, Supernumerary nipple	OMIM:616083
Chylomicron Retention Disease	Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Accumulation of lipid droplets in smal...	OMIM:246700
Shigellosis	Hepatic failure, Vomiting, Microangiopathic hemolytic anemia, Ulcerative colitis, Bloody diarrhea...	ORPHA:810
Genitourinary And/Or Brain Malformation Syndrome	Holoprosencephaly, Acrania, Micrognathia	OMIM:618820
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hematochezia, Secretory diarrhea, Cryptorchidism, Feeding difficulties	OMIM:618183
Familial Pancreatic Carcinoma	Intestinal pseudo-obstruction, Pancreatic adenocarcinoma, Exocrine pancreatic insufficiency, Hepa...	ORPHA:1333
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus, Constipation	ORPHA:52503
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Visceral angiomatosis, Retinal telangiectasia, Esoph...	ORPHA:774
Glycosylphosphatidylinositol Biosynthesis Defect 17	High palate, Hypertriglyceridemia	OMIM:618010
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Diamond-Blackfan Anemia 16	Anemia, Pulmonic stenosis	OMIM:617408
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Alopecia, Hypospadias, Truncal obesity, Supernumerary nipple	ORPHA:3224
Nephronophthisis	Anemia	ORPHA:655
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Postnatal growth retardation, Short stature, Decreased response to growth ...	OMIM:615925
Congenital Factor Ii Deficiency	Epistaxis, Abnormal bleeding, Prolonged bleeding following circumcision, Excessive bleeding from ...	ORPHA:325
Bile Acid Malabsorption, Primary, 2	Periportal fibrosis, Decreased circulating chenodeoxycholic acid concentration, Elevated circulat...	OMIM:619481
Aromatase Deficiency	Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea	OMIM:613546
Al Amyloidosis	Howell-Jolly bodies, Gastrointestinal hemorrhage, Xerostomia, Postural hypotension with compensat...	ORPHA:85443
Dystonia 31	Abnormal posturing	OMIM:619565
Meconium Ileus	Microcolon, Chronic diarrhea, Meconium ileus	OMIM:614665
Acces Syndrome	Failure to thrive, Sparse scalp hair, Supernumerary nipple	OMIM:619959
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Hypoalbuminemia, Elevated circulating hepatic transaminase concentrati...	ORPHA:540
Erythrocytosis, Familial, 2	Hypotension, Increased hematocrit, Increased red blood cell mass, Increased circulating hemoglobi...	OMIM:263400
Porphyria Cutanea Tarda	Increased circulating iron concentration, Periportal fibrosis, Portal inflammation, Elevated circ...	ORPHA:101330
Peroxisomal Acyl-Coa Oxidase Deficiency	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Very long chain fatty acid...	OMIM:264470
Congenital Macroglossia	Abnormal hepatic glycogen storage, Macroglossia, Neurofibroma	ORPHA:2430
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos	OMIM:615989
Ataxia-Oculomotor Apraxia 4	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Neutral Lipid Storage Disease With Ichthyosis	Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Abnormal circula...	ORPHA:98907
Reticuloendotheliosis, X-Linked	Anemia, Hepatosplenomegaly	OMIM:312500
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Gastroesophageal reflux, Enlarged platelet dense granules, Hep...	OMIM:608233
Meckel Syndrome 13	Micrognathia, Occipital encephalocele, Molar tooth sign on MRI	OMIM:617562
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Alopecia, Vomiting, Secretory diarrhea, Nasogastric tube feeding, Ileus, Malabsorption, Autoimmun...	ORPHA:37042
Congenital Disorder Of Glycosylation, Type Im	Increased circulating free fatty acid level	OMIM:610768
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Elevated...	ORPHA:79240
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Erythrocytosis, Familial, 3	Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass	OMIM:609820
Combined Oxidative Phosphorylation Deficiency 9	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Hyperalaninemia...	OMIM:614582
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Ethmoidal encephalocele, Hypoplasia of the pons, Anteriorly placed ...	ORPHA:280195
Methanol Poisoning	Diarrhea, Vomiting, Permanent atrial fibrillation, Hyperlipidemia, Inflammatory arteriopathy, Cer...	ORPHA:31825
Tetrasomy 9P	Absent gallbladder, Cryptorchidism, Pilomatrixoma	ORPHA:3310
Atypical Werner Syndrome	Neoplasm of the skin, Neoplasm of the oral cavity, Abnormal hair morphology, Premature graying of...	ORPHA:79474
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Squamous cell carcinoma of the skin, Nail dystrophy, Cryptorchidism, M...	OMIM:620365
10Q22.3Q23.3 Microdeletion Syndrome	Breast aplasia, Intestinal polyposis	ORPHA:276413
Dehydrated Hereditary Stomatocytosis	Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp...	ORPHA:3202
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Ch...	OMIM:615285
Familial Mediterranean Fever	Diarrhea, Oral leukoplakia, Acute hepatic failure, Gastrointestinal infarctions, Malabsorption, L...	ORPHA:342
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Incre...	OMIM:603553
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Fine hair, Premature gr...	OMIM:613990
Pparg-Related Familial Partial Lipodystrophy	Hepatic steatosis, Hyperuricemia, Splenomegaly, Cirrhosis, Pancreatitis, Hypertriglyceridemia, He...	ORPHA:79083
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Gastroesophageal reflux, Hypoplasia of the thymus, Rectal prolapse, Feeding dif...	OMIM:613177
Camptobrachydactyly	Septate vagina	ORPHA:1319
Carnitine Deficiency, Systemic Primary	Decreased circulating carnitine concentration, Elevated circulating aspartate aminotransferase co...	OMIM:212140
Ataxia With Vitamin E Deficiency	Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:277460
Thrombocytopenia With Beta-Thalassemia, X-Linked	Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran...	OMIM:314050
Combined Oxidative Phosphorylation Deficiency 7	Paralytic ileus, Dysphagia	OMIM:613559
Neutral Lipid Storage Disease With Myopathy	Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Hepatic steatosis,...	OMIM:610717
Neurofibroma	Intestinal bleeding, Neurofibroma, Peripheral schwannoma, Symmetric spinal nerve root neurofibrom...	ORPHA:252183
Functioning Gonadotropic Adenoma	Galactorrhea, Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation tes...	ORPHA:91348
Meckel Syndrome, Type 4	Encephalocele, Ventricular septal defect, Hydrocephalus, Molar tooth sign on MRI, Atrial septal d...	OMIM:611134
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Insulin-resistant diabetes mellitus, Hirsutism, Enlarged polycystic ovaries, Polycystic ovaries, ...	ORPHA:90301
Erythrocytosis, Familial, 5	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617907
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia	ORPHA:230839
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating cortiso...	ORPHA:99889
Autoimmune Hepatitis	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas...	ORPHA:2137
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Vomiting, Leukocytosis, Splenomegaly, Intestinal obstruction, Orchitis, Peritonitis, Co...	ORPHA:32960
Congenital Analbuminemia	Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin	ORPHA:86816
Dohle Bodies And Leukemia	Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies	OMIM:223350
Aicardi Syndrome	Gastroesophageal reflux, Sparse lateral eyebrow, Malabsorption, Intestinal polyposis, Hiatus hern...	ORPHA:50
20Q13.33 Microdeletion Syndrome	Hematochezia, Highly arched eyebrow	ORPHA:261311
Cystic Fibrosis	Gastroesophageal reflux, Meconium ileus, Exocrine pancreatic insufficiency, Malabsorption, Steato...	ORPHA:586
Immunodeficiency 70	Verrucae, Decreased proportion of CD4-positive helper T cells, Colitis, Achalasia, B lymphocytope...	OMIM:618969
Liver Failure, Infantile, Transient	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Acute hepatic failure, ...	OMIM:613070
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Low posterior hairline, Chordee, Abnor...	ORPHA:1772
Nablus Mask-Like Facial Syndrome	Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Frontal upsweep of hair, Cry...	OMIM:608156
Sialuria	Hirsutism, Low posterior hairline, Generalized hirsutism, Hypoplastic nipples, Synophrys	OMIM:269921
Intellectual Developmental Disorder, Autosomal Recessive 65	Hypospadias, Cryptorchidism, Supernumerary nipple	OMIM:618109
Acute Myelomonocytic Leukemia	Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia	ORPHA:517
Cortical Dysplasia, Complex, With Other Brain Malformations 11	High, narrow palate, High palate, Ileus, Synophrys	OMIM:620156
Erythrocytosis, Familial, 7	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617981
Erythrocytosis, Familial, 6	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:617980
Familial Partial Lipodystrophy, Dunnigan Type	Splenomegaly, Hepatic steatosis, Pancreatitis, Hypertriglyceridemia, Hepatomegaly	ORPHA:2348
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Dystrophic toenail, Supernumerary nipple, Glandular hypospadias, Long eyelashes, Facial capillary...	OMIM:604314
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat...	OMIM:613673
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Sacrococcygeal teratoma, Failure to thrive, Hypertrichosis, Hypoplastic labia mino...	OMIM:269150
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Laryngeal carcinoma, Carcinoma, Hypertriglyceridemia	OMIM:610644
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	OMIM:278740
Microtriplication 11Q24.1	Hyperlipidemia, Cleft palate	ORPHA:289522
Erythrocytosis, Familial, 4	Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia	OMIM:611783
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD...	ORPHA:331206
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Trichiasis, Meningioma, Cryptorchidism, Pilomatrixoma, Hydrocele testis	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Trichiasis, Meningioma, Cryptorchidism, Pilomatrixoma, Hydrocele testis	ORPHA:353277
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hepatomegaly, Decreased circulating carnitine concentration, Hepatic steatosis, Elevated circulat...	OMIM:201450
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Xerostomia, Leukopenia, Splenomegaly, Purpu...	ORPHA:809
Hydrops Fetalis, Nonimmune	Anemia, Congestive heart failure	OMIM:236750
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a...	OMIM:159550
Bone Marrow Failure Syndrome 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Squamou...	OMIM:618849
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Arteritis, Intestinal fistula, Gastrointestinal infarctions, Ischemi...	ORPHA:679
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe...	OMIM:146255
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Bifid uvula, Hypercholesterolemia, High palate, Cleft palate, Pyloric stenosis	ORPHA:96184
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Anteriorly placed anus, Abnormal rectum morphology, Feeding difficulties, ...	OMIM:239300
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hyperammonemia...	ORPHA:42
Camptobrachydactyly	Septate vagina	OMIM:114150
Oculocutaneous Albinism Type 1B	Albinism, Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Hypopigmentation o...	ORPHA:79434
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma...	OMIM:150800
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P...	OMIM:300367
Nephrotic Syndrome, Type 11	Hypoalbuminemia, High palate, Hypercholesterolemia, Cleft palate	OMIM:616730
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Dyspha...	ORPHA:64753
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Highly arched eyebrow, Leukemia, Supernumerary nipple, Cryptorchidism, Micropenis, Myelodysplasia	OMIM:619951
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Aplasia/Hypoplasia of the nipples, Sparse eyebrow, Supernumerary nipple, Abnormal reproductive sy...	ORPHA:1521
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Hemochromatosis, Type 5	Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir...	OMIM:615517
Filippi Syndrome	Cryptorchidism, Supernumerary nipple	ORPHA:3255
Immunodeficiency 82 With Systemic Inflammation	Reduced natural killer cell count, Anoperineal fistula, Hepatitis, Villous atrophy, Decreased pro...	OMIM:619381
Granulomatosis With Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Recurrent intrapulmonary hemorrhage, Cerebral...	ORPHA:900
Esophageal Ring, Lower	Hiatus hernia, Dysphagia	OMIM:133240
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Anemia, Purpura, Pulmonary embolism, Cerebral hemorrhage	OMIM:614514
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Axillary apocrine gland hypoplasia, Small scrotum, Imperforate hymen...	OMIM:181450
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Frontal bossing, Molar tooth sign on MRI	ORPHA:166024
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Splenomegaly, Petechiae, A...	ORPHA:91138
Eosinophilia, Familial	Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia	OMIM:131400
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Micropenis, Congenital hypothyroidism, Cryptorchidism, Supernumerary nipple	ORPHA:2519
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Hepatic failure, Increased hepatic echogenicity, Hepatic steatosis, Low plasma citrulline, Elevat...	OMIM:261680
Immunodeficiency 17	Abnormal B cell morphology, Anoperineal fistula, Decreased proportion of CD8-positive T cells, Au...	OMIM:615607
Hemophagocytic Syndrome Associated With An Infection	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Increased circulating ...	ORPHA:158048
Woodhouse-Sakati Syndrome	Decreased serum estradiol, Alopecia, Insulin-resistant diabetes mellitus, Decreased response to g...	ORPHA:3464
T-Cell Immunodeficiency With Thymic Aplasia	Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of...	OMIM:242700
Severe Combined Immunodeficiency, X-Linked	Hepatomegaly, Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation wit...	OMIM:300400
Fanconi Anemia, Complementation Group O	Anal atresia, Cryptorchidism, Rectal atresia	OMIM:613390
Smith-Magenis Syndrome	Hypercholesterolemia, Velopharyngeal insufficiency, Hypertriglyceridemia	OMIM:182290
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Squamous cell carcinoma of the skin, Actinic keratosis, Cutaneous melanoma	OMIM:278720
Acquired Partial Lipodystrophy	Lymphocytosis, Hepatic steatosis	ORPHA:79087
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Gastroesophageal reflux, Aplastic anemia, Premature graying of hair, Pancytopenia, Myeloid leukem...	OMIM:614742
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hepatosplenomegaly, Erythroid hyperplasia, Splenome...	OMIM:616860
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration	OMIM:208920
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Wolman Disease	Hepatic failure, Malnutrition, Nausea and vomiting, Splenomegaly, Anemia, Abdominal distention, S...	ORPHA:75233
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hypoalbuminemia, Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, E...	OMIM:251880
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Alopecia, Malnutrition, Esophageal stricture, Nail dystrophy, Abnormal esophagus morphology, Squa...	OMIM:226600
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Highly arched eyebrow, Sparse pubic hair, Female infertility, Abnormality...	OMIM:110100
Diamond-Blackfan Anemia 1	Basal cell carcinoma, Myelodysplasia, Colon cancer, Osteosarcoma	OMIM:105650
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ...	OMIM:301083
Lipodystrophy, Congenital Generalized, Type 4	Elevated circulating hepatic transaminase concentration, Ileus, Hepatic steatosis, Splenomegaly, ...	OMIM:613327
Cyanosis, Transient Neonatal	Anemia, Methemoglobinemia, Reticulocytosis	OMIM:613977
Developmental And Epileptic Encephalopathy 51	Failure to thrive, Supernumerary nipple	OMIM:617339
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hypoalbuminemia, Intrahepatic cholestasis, Hepatic fibrosis, Decreased liver function, Postnatal ...	OMIM:617093
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	T lymphocytopenia, B lymphocytopenia	OMIM:601457
Immunodeficiency 47	Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans...	OMIM:300972
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Abnormal T cell count, Hepatic hemophagocytosis, Abnormal B cell count, Autoimmune hemolytic anem...	OMIM:620430
Anemia, Hypochromic Microcytic, With Iron Overload 2	Increased circulating ferritin concentration, Sideroblastic anemia, Splenomegaly, Hypochromia, Po...	OMIM:615234
Woodhouse-Sakati Syndrome	Alopecia, Elevated circulating thyroid-stimulating hormone concentration, Fine hair, Decreased se...	OMIM:241080
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Pancreatitis, Hepatic steatosis	ORPHA:79084
Cerebral Creatine Deficiency Syndrome 1	Vomiting, Ileus, Aganglionic megacolon, Feeding difficulties in infancy, Constipation	OMIM:300352
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Joubert Syndrome 18	Occipital encephalocele, Ventricular septal defect, Molar tooth sign on MRI, Cleft palate, Lobula...	OMIM:614815
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Chronic constipation, Abdominal pain, Chronic diarrhea	OMIM:142680
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Epistaxis, Congestive heart failure, Subcutane...	ORPHA:727
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Supernumerary nipple, Cryptorchidism, Low posterior hairline, Micropenis, Synophrys	OMIM:618929
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy...	OMIM:611376
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Premature graying of hair, Abnormal eyebrow morphology, Ileus, Splenomegaly, Aganglio...	ORPHA:163746
Skin Creases, Congenital Symmetric Circumferential, 1	Localized neuroblastoma, Hypoplastic nipples, Wide intermamillary distance	OMIM:156610
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Cystic Fibrosis, Modifier Of, 1	Meconium ileus	OMIM:603855
Sitosterolemia 1	Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Abnormal bleeding, Xanthelasma, Ret...	OMIM:210250
Immunodeficiency 87 And Autoimmunity	Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepatic steatosis, Hodgkin lymphoma, Elevated ...	OMIM:619573
Tempi Syndrome	Polycythemia, Increased hematocrit, Telangiectasia, Hemangioma, Intracranial hemorrhage	ORPHA:284227
Alpha-1-Antitrypsin Deficiency	Gastric varix, Hepatocellular carcinoma	OMIM:613490
Diamond-Blackfan Anemia 9	Anemia, Webbed neck	OMIM:613308
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased...	ORPHA:228308
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Lymphopenia, Intestinal lymphangiectasia	OMIM:207731
Whipple Disease	Gastrointestinal hemorrhage, Diarrhea, Hypotension, Malabsorption, Splenomegaly, Myocarditis, Ano...	ORPHA:3452
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Malabsorption, Nausea and vomiting, Tracheoes...	ORPHA:537
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Diarrhea, Acute hepatic failure, Nausea and vomiting, Thrombocytopen...	ORPHA:36426
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis...	ORPHA:67044
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Infantile Liver Failure Syndrome 1	Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis...	OMIM:615438
Immunodeficiency 40	Focal active colitis, Eosinophilic granuloma, Elevated circulating aspartate aminotransferase con...	OMIM:616433
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Hemochromatosis, Type 2B	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:613313
Familial Multiple Lipomatosis	Functional intestinal obstruction, Hyperlipidemia, Medulloblastoma, Odontogenic keratocysts of th...	ORPHA:199276
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Sparse body hair, Supernumerary nipple, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch...	OMIM:106260
Acute Intermittent Porphyria	Diarrhea, Pseudobulbar paralysis, Ileus, Nausea and vomiting, Constipation, Abdominal distention,...	ORPHA:79276
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Tufted Angioma	Neoplasm of the skin, Hemangioma of the lip, Hypertrichosis, Petechiae, Facial hemangioma, Thromb...	ORPHA:1063
Mitochondrial Neurogastrointestinal Encephalomyopathy	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Gastrointestina...	ORPHA:298
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ...	OMIM:300751
Obesity And Hypopigmentation	Hepatic steatosis	OMIM:620195
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Feeding difficulties, Chronic constipation	OMIM:619575
Joubert Syndrome 16	Encephalocele, Molar tooth sign on MRI	OMIM:614465
Lysosomal Acid Lipase Deficiency	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre...	ORPHA:275761
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak...	OMIM:619767
Rapp-Hodgkin Syndrome	Sparse hair, Sparse eyebrow, Decreased number of sweat glands, Fine hair, Supernumerary nipple, P...	OMIM:129400
Cushing Disease	Abnormal libido, Secondary amenorrhea, Increased circulating cortisol level, Increased urinary co...	ORPHA:96253
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, Vaginal atresia, Rectovaginal fistul...	OMIM:236700
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin, Hypopigmentation of hair, Albinism	ORPHA:79431
Van Maldergem Syndrome 2	High anterior hairline, Bifid scrotum, Cryptorchidism, Hypoplastic nipples, Micropenis, Hypospadias	OMIM:615546
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Cholestasis, Villous atrophy, Increased intestinal transit tim...	OMIM:619377
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Fanconi Anemia, Complementation Group T	Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia	OMIM:616435
Common Variable Immunodeficiency	Vasculitis, Lymphoma, Lymphopenia, Splenomegaly, Purpura, Gastrointestinal stroma tumor, Anal atr...	ORPHA:1572
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Anemia, Intestinal atresia, Duodenal atresia	ORPHA:3405
Immune Dysregulation, Autoimmunity, And Autoinflammation	Gingival bleeding, Epistaxis, Abnormal circulating C-reactive protein concentration, Petechiae, E...	OMIM:620514
Camptodactyly, Tall Stature, And Hearing Loss Syndrome	Osteochondroma	OMIM:610474
Formiminoglutamic Aciduria	Anemia, Abnormal circulating histidine concentration, Megaloblastic anemia	ORPHA:51208
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Medulloblastoma	Adenomatous colonic polyposis, Nausea and vomiting, Medulloblastoma, Neuroblastoma, Cerebellar me...	ORPHA:616
Combined Oxidative Phosphorylation Defect Type 7	Paralytic ileus, Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy	ORPHA:254930
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal h...	OMIM:177850
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon...	OMIM:615866
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a...	ORPHA:3109
Czeizel-Losonci Syndrome	Hypoplastic nipples, Wide intermamillary distance	ORPHA:2437
Hemochromatosis, Type 3	Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr...	OMIM:604250
Seckel Syndrome 10	Elevated circulating aspartate aminotransferase concentration, Hepatic steatosis, Elevated circul...	OMIM:617253
Glycogen Storage Disease Ib	Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Xan...	OMIM:232220
Immunodeficiency 46	Anemia, Chronic diarrhea, Neutropenia, Intermittent thrombocytopenia	OMIM:616740
Lipodystrophy, Familial Partial, Type 2	Hepatic steatosis, Hypertriglyceridemia, Hypercholesterolemia, Decreased HDL cholesterol concentr...	OMIM:151660
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Pancreatic Colipase Deficiency	Exocrine pancreatic insufficiency, Megaloblastic anemia, Steatorrhea, Chronic diarrhea, Fat malab...	ORPHA:309108
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone stimulation te...	OMIM:604292
Primary Myelofibrosis	Abnormal bleeding, Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leuk...	ORPHA:824
Glycogen Storage Disease Ia	Elevated circulating hepatic transaminase concentration, Xanthelasma, Hyperlipidemia, Hyperuricem...	OMIM:232200
Neutral Lipid Storage Myopathy	Elevated circulating hepatic transaminase concentration, Abnormal circulating creatine kinase con...	ORPHA:98908
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Atroph...	OMIM:308300
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Aplasia of the uterus, Vaginal atresia,...	ORPHA:2237
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Absence of lymph node germinal center, Abnormal natural k...	ORPHA:79124
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions,...	ORPHA:247691
Refractory Anemia With Excess Blasts	Abnormal mean corpuscular volume, Abnormal bleeding, Palpitations, Leukocytosis, Retinal hemorrha...	ORPHA:86839
Simple Cryoglobulinemia	Vasculitis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Congestive hear...	ORPHA:91139
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Delayed...	OMIM:614324
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Hepa...	OMIM:619418
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir...	OMIM:618944
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Gastroesophageal reflux, Uterine neoplasm, Vomiting, Nasogastric tube feeding, Vaginal neoplasm, ...	ORPHA:1018
Acromesomelic Dysplasia 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:609441
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse hair, Sparse pubic hair, Sparse eyebrow, Fair hair, Decreased response to growth hormone s...	OMIM:129900
Relapsing Fever	Epistaxis, Hypotension, Diarrhea, Vomiting, Abnormal bleeding, Increased total bilirubin, Elevate...	ORPHA:91547
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Fine hair, Supernumerary nipple, Cryptorchidism, Hypothyroidism, Aplasia/Hypoplasia of the eyebro...	ORPHA:1812
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Pyloric stenosis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Hy...	ORPHA:363705
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Decreased circulating renin level, Polycystic ovaries...	ORPHA:90795
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Reduced natural killer cell count, Gastroesophageal reflux, Decreased proportion of CD4-positive ...	ORPHA:221139
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal myeloid leukocyte morphology, Inflammation of the large intestine, Xanthelasma, Hyperlip...	ORPHA:79259
Hermansky-Pudlak Syndrome	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Bruising susceptibility, Cardiomyopath...	ORPHA:79430
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, Decreased ci...	OMIM:610475
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ...	ORPHA:99901
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Failure to thrive, Cryptorchidism, Hypoplastic nipples, Hypospadias, Small ...	OMIM:614866
Mgat2-Cdg	Failure to thrive, Long eyelashes, Inverted nipples, Hirsutism, Hypoplastic nipples, Abnormality ...	ORPHA:79329
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Hepatic steatosis	OMIM:615119
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Hepatic failure, Decreased plasma free carnitin...	ORPHA:157
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Megarectum, Leukopenia, Cryptorchidism, Hirsutism, Feeding difficulties in infancy, Thrombocytopenia	OMIM:301056
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Punctate vasculitis skin lesions, Telangiectasia, Raynaud phenomenon...	OMIM:192315
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab...	OMIM:608203
Schimke Immuno-Osseous Dysplasia	Abdominal distention, Abnormal proportion of naive CD4 T cells, Congestive heart failure, Lymphop...	ORPHA:1830
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus, Primary amenorrhea	OMIM:191830
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Gastroesophageal reflux, Pseudohypoparathyroidism, Frontal hirsutism, High palate, Sparse hair, R...	OMIM:617157
Joubert Syndrome 7	Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:611560
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Pili torti, Basal cell carcinoma, Sparse hair, Trichoepithelioma	OMIM:301845
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ...	ORPHA:572333
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:289548
Yunis-Varon Syndrome	Sparse eyebrow, Absent nipple, Failure to thrive in infancy, Cryptorchidism, Sparse eyelashes, Se...	OMIM:216340
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Hepatic failure, Decreased liver function, Abnormal circulating lipid concentrati...	ORPHA:77293
Pachydermoperiostosis	Neoplasm of the skin, Peptic ulcer, Gastrointestinal hemorrhage, Malabsorption, Splenomegaly, Abn...	ORPHA:2796
Meacham Syndrome	Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Ambiguous genitalia, Abnormal fallo...	ORPHA:3097
3-Methylglutaconic Aciduria, Type V	Postnatal growth retardation, Intrauterine growth retardation, Elevated circulating aspartate ami...	OMIM:610198
Leprechaunism	Megarectum, Facial hypertrichosis, Hypertrichosis, Enlarged ovaries, Abdominal distention, Rectal...	ORPHA:508
Alpha-Thalassemia	Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl...	ORPHA:846
Postaxial Acrofacial Dysostosis	Supernumerary nipple	ORPHA:246
Tylosis With Esophageal Cancer	Esophageal carcinoma, Oral leukoplakia	OMIM:148500
21Q22.11Q22.12 Microdeletion Syndrome	Failure to thrive in infancy, Hypoplastic nipples, Nail dystrophy	ORPHA:261323
Multiple Osteochondromas	Rib exostoses, Osteochondroma, Intestinal obstruction, Scapular exostoses, Dysphagia, Chondrosarcoma	ORPHA:321
Adams-Oliver Syndrome	Alopecia, Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Pulmonary arterial hypert...	ORPHA:974
Nephronophthisis 9	Nephronophthisis, Postnatal growth retardation, Stage 5 chronic kidney disease, Polyuria, Renal c...	OMIM:613824
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Wide intermamillary distance, Failure to thrive, Fine hair, Supernumerary nipple,...	ORPHA:261349
Lmna-Related Cardiocutaneous Progeria Syndrome	Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Abnormal intrahepatic bile d...	ORPHA:363618
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Anemia, Hyperuricemia	ORPHA:371
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Anemia, Throm...	OMIM:617591
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Elevated circulating luteinizing hormone level, Clitoral hypertrophy, Abnor...	ORPHA:168558
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:541423
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-...	OMIM:620481
Lysinuric Protein Intolerance	Hemophagocytosis, Hepatosplenomegaly, Increased LDL cholesterol concentration, Hyperglycinemia, C...	ORPHA:470
Absent Radius-Anogenital Anomalies Syndrome	Anal atresia, Rectal atresia, Rectovaginal fistula, Perineal fistula	ORPHA:3016
Joubert Syndrome 9	Encephalocele, Molar tooth sign on MRI	OMIM:612285
Gaisböck Syndrome	Increased red blood cell count, Peptic ulcer, Increased mean corpuscular hemoglobin concentration...	ORPHA:90041
2Q37 Microdeletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Supernumerary nipple, Obesit...	ORPHA:1001
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc...	OMIM:617237
Wilson Disease	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ...	ORPHA:905
Aapoaiv Amyloidosis	Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Hyper...	ORPHA:439232
Beckwith-Wiedemann Syndrome	Polycythemia, Abnormal pancreas morphology, Exocrine pancreatic insufficiency, Neoplasm, Cryptorc...	ORPHA:116
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Dysphagia, Hepatic steatosis, Decreased liver function	ORPHA:70472
Alg9-Cdg	Hypertrichosis, Inverted nipples, Low posterior hairline, Hypoplastic nipples, Hypoplasia of the ...	ORPHA:79328
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Angina pectoris...	ORPHA:758
Idiopathic Aplastic Anemia	Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th...	ORPHA:88
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse ...	OMIM:618419
Cartilage-Hair Hypoplasia	Basal cell carcinoma, Anal stenosis, Sparse eyebrow, Fair hair, Lymphoma, Fine hair, Lymphopenia,...	OMIM:250250
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, H...	OMIM:614921
Chromosome 1Q41-Q42 Deletion Syndrome	Sparse eyebrow, Cryptorchidism, Supernumerary nipple	OMIM:612530
Trisomy 12P	Thick eyebrow, Supernumerary nipple	ORPHA:1699
Glycogen Storage Disease Ic	Inflammation of the large intestine, Xanthelasma, Hyperlipidemia, Chronic pancreatitis, Hyperuric...	OMIM:232240
Galloway-Mowat Syndrome 7	High palate, Hypercholesterolemia, Cleft palate	OMIM:618348
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Thoracic hypertrichosis, Coarse hair, Long eyelashes, Decreased body weight, Hypo...	OMIM:618268
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Smith-Magenis Syndrome	Gastroesophageal reflux, Hypercholesterolemia, Cleft palate, Hypertriglyceridemia	ORPHA:819
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Elevated circulating hepatic transaminase concentration, Increased total bilirubin...	OMIM:608836
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Neoplasm of the tongue...	ORPHA:100026
Cornelia De Lange Syndrome 1	Highly arched eyebrow, Hypoplastic male external genitalia, Long eyelashes, Curly eyelashes, Cryp...	OMIM:122470
19P13.12 Microdeletion Syndrome	Hyperlipidemia, Hepatic steatosis, Cleft palate	ORPHA:254346
Joubert Syndrome 14	Hypoplasia of the brainstem, Encephalocele, Ventricular septal defect, Hydrocephalus, Molar tooth...	OMIM:614424
Multiple Pterygium Syndrome, Escobar Variant	Exostosis of the external auditory canal, Cryptorchidism, Hypoplastic nipples, Absence of labia m...	OMIM:265000
Interstitial Lung And Liver Disease	Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c...	OMIM:615486
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma	OMIM:610651
Spinal Cord Injury	Paralytic ileus	ORPHA:90058
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Short-segment aganglionic megacolon, Hepatosplenomegaly, Ileus, White forelock, Cryptorchidism, A...	OMIM:609136
Reni Syndrome	Hypoalbuminemia, Hypertriglyceridemia	OMIM:617575
Mckusick-Kaufman Syndrome	Failure to thrive, Hydrometrocolpos, Glandular hypospadias, Cryptorchidism, Urogenital sinus anomaly	ORPHA:2473
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Hyperammonemia, Eleva...	OMIM:212138
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Hyperbilirubinemia, Reticulocytosis, ...	OMIM:224120
Immunodeficiency By Defective Expression Of Mhc Class Ii	Abnormal CD4:CD8 ratio, Pancytopenia, Recurrent infection of the gastrointestinal tract, Decrease...	ORPHA:572
Char Syndrome	Supernumerary nipple	ORPHA:46627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Supernumerary nipple	OMIM:614376
Dyskeratosis Congenita, Digenic	Alopecia, Squamous cell carcinoma of the skin, Decreased testicular size, Nail dystrophy, Sparse ...	OMIM:620040
Meckel Syndrome, Type 10	Bifid uvula, Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Cleft palate	OMIM:614175
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Bazex Syndrome	Yellow nails, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Anemia, Liposarcoma	ORPHA:166113
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98855
Short-Rib Thoracic Dysplasia 12	Hamartoma of tongue, Hypoplastic nipples, Ambiguous genitalia, Wide intermamillary distance	OMIM:269860
Bainbridge-Ropers Syndrome	Precocious puberty, Highly arched eyebrow, Failure to thrive, Supernumerary nipple, Thin eyebrow,...	OMIM:615485
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hepatomegaly, Macrovesicular hepatic steatosis	OMIM:618234
Czech Dysplasia	Osteochondroma	OMIM:609162
Wolfram Syndrome	Gastrointestinal hemorrhage, Cardiomyopathy, Malabsorption, Feeding difficulties in infancy, Cons...	ORPHA:3463
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hepatic failure, Elevated circulating hepatic transaminase c...	OMIM:617156
Vertebral Hypersegmentation And Orofacial Anomalies	Widow's peak, Supernumerary nipple	OMIM:619122
Bone Marrow Failure Syndrome 5	Oral leukoplakia, Hypogonadism, Nail dystrophy, Erythroid hypoplasia, Anemia, Pure red cell aplas...	OMIM:618165
Recessive Dystrophic Epidermolysis Bullosa Inversa	Anemia, Nail dystrophy, Gastrointestinal inflammation, Esophageal stricture	ORPHA:79409
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Kleefstra Syndrome	Highly arched eyebrow, Supernumerary nipple, Obesity, Cryptorchidism, Micropenis, Hypoplasia of p...	ORPHA:261494
Ddost-Cdg	Gastroesophageal reflux, Elevated circulating hepatic transaminase concentration, Hepatic steatosis	ORPHA:300536
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Sparse eyebrow, High anterior hairline, Supernumerary nipple, Thick eyebrow, Inverted nipples, Sy...	OMIM:620098
Rh-Null, Amorph Type	Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia	OMIM:617970
Combined Immunodeficiency-Enteropathy Spectrum	Abdominal distention, Jejunoileal ulceration, Intestinal malrotation, Alopecia of scalp, Autoimmu...	ORPHA:436252
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Sparse hair, Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Large for gestational age,...	OMIM:280000
Bohring-Opitz Syndrome	Wide intermamillary distance, Failure to thrive, Supernumerary nipple, Hypertrichosis, Low anteri...	OMIM:605039
Dpm1-Cdg	High, narrow palate, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, H...	ORPHA:79322
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic an...	OMIM:235700
Classical Ehlers-Danlos Syndrome	Gastroesophageal reflux, Vomiting, Prolonged bleeding time, Bruising susceptibility, Arterial rup...	ORPHA:287
Gapo Syndrome	Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Hypoplastic nipples, Sparse hair	OMIM:230740
Kasabach-Merritt Phenomenon	Neoplasm of the skin, Abdominal distention, Microangiopathic hemolytic anemia, Capillary hemangio...	ORPHA:2330
Coffin-Lowry Syndrome	Highly arched eyebrow, Coarse hair, Thick eyebrow, High palate, Narrow palate, Rectal prolapse	OMIM:303600
Postaxial Acrofacial Dysostosis	Micropenis, Cryptorchidism, Supernumerary nipple	OMIM:263750
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypokalemia, Decreased circulating cortisol level, Anemia, Hypertension, Reduced cir...	OMIM:611489
Adrenomyodystrophy	Abnormal intestine morphology, Short stature, Hepatic steatosis	ORPHA:977
X-Linked Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98863
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Thrombocytopenia, Normochromic anemia, Abnormal posturing, Neutropenia	OMIM:614857
Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Hype...	ORPHA:98853
Basal Cell Nevus Syndrome 1	Basal cell carcinoma, Cardiac rhabdomyoma, Medulloblastoma, Ovarian carcinoma, Cardiac fibroma, O...	OMIM:109400
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Ovotestis, Hypospadias, Adrenal gland agenesis, Sex reversal	OMIM:611812
Lesch-Nyhan Syndrome	Anemia, Hyperuricemia	ORPHA:510
Poliomyelitis	Vomiting, Paralytic ileus, Anorexia, Nausea, Dysphagia	ORPHA:2912
Hepatocellular Carcinoma	Hepatocellular carcinoma	OMIM:114550
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Supernumerary nipple	OMIM:616579
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia	OMIM:615966
Adult Acute Respiratory Distress Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:70578
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Increased circulating interleukin 10 concentration	OMIM:613759
Combined Oxidative Phosphorylation Deficiency 19	Gastroesophageal reflux, Elevated circulating aspartate aminotransferase concentration, Microvesi...	OMIM:615595
Bardet-Biedl Syndrome 1	Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Hirsutism, Micropenis...	OMIM:209900
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis	OMIM:619817
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He...	ORPHA:167
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele...	OMIM:616738
Joubert Syndrome 27	Frontal bossing, Molar tooth sign on MRI	OMIM:617120
Juvenile Dermatomyositis	Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar...	ORPHA:93672
Spherocytosis, Type 2	Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:616649
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Hepatic steatosis, Pancreatitis, Hyperhomocystinemia, High palate	OMIM:236200
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Joubert Syndrome 4	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:609583
Cryohydrocytosis	Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia	OMIM:185020
Immunodeficiency 9	Lymphopenia, Hypoplasia of the thymus, Abnormal natural killer cell count	OMIM:612782
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Chordee, Synophrys	OMIM:616728
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Gastrointestinal hemorrhage, Pulmonary embolism, Subcutaneous hemorrhage, Cerebral ischemia, Intr...	ORPHA:394
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Elevated circulating hepatic transaminase concentration, Hepatic ste...	ORPHA:348
Oculogastrointestinal Muscular Dystrophy	Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ...	ORPHA:1876
Cornelia De Lange Syndrome	Highly arched eyebrow, Failure to thrive, Abnormality of the uterus, Long eyelashes, Curly eyelas...	ORPHA:199
Hypermobile Ehlers-Danlos Syndrome	High, narrow palate, Gastroesophageal reflux, Malabsorption, Nausea and vomiting, Gastrointestina...	ORPHA:285
Lhermitte-Duclos Disease	Fibroadenoma of the breast, Trichilemmoma, Neoplasm of the thyroid gland, Ovarian neoplasm	ORPHA:65285
Cat Eye Syndrome	Anal stenosis, Meckel diverticulum, Volvulus, Intestinal malrotation, Rectal fistula, Rectal atre...	OMIM:115470
Bardet-Biedl Syndrome 19	Hepatic steatosis	OMIM:615996
Acute Promyelocytic Leukemia	Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi...	ORPHA:520
3Mc Syndrome	Highly arched eyebrow, Bilateral cryptorchidism, Supernumerary nipple	ORPHA:293843
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Hepatic steatosis, Hypertriglyceridemia, Splenomegaly, Pancreatitis, Decreased HDL cholesterol co...	ORPHA:280365
Intussusception	Intussusception	OMIM:147710
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Lymphopenia, Funct...	ORPHA:90362
Abetalipoproteinemia	Hypoalbuminemia, Hepatic fibrosis, Hypotriglyceridemia, Elevated circulating hepatic transaminase...	ORPHA:14
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Premature adrenarche, Clitoral hypertrophy, Frontal balding, Decreased fertility, Weight loss, Ab...	ORPHA:90794
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Hepatic steatosis, Elevated circulating creatine kinase concentration	ORPHA:52430
Diamond-Blackfan Anemia 20	Erythroid hypoplasia, Anemia	OMIM:618313
Pitt-Hopkins Syndrome	Sparse medial eyebrow, Supernumerary nipple, Frontal upsweep of hair, Cryptorchidism, Micropenis	OMIM:610954
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Abnormality of the spleen, Esophag...	ORPHA:2538
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612924
Beta-Thalassemia	Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal hemoglobin, Thrombocytopen...	ORPHA:848
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Oculocutaneous Albinism Type 2	White hair, Cutaneous melanoma, Squamous cell carcinoma of the skin, White eyebrow, White eyelash...	ORPHA:79432
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of...	OMIM:610629
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Sparse eyelashes, Abnormal proportio...	ORPHA:125
Osteogenesis Imperfecta	Intestinal obstruction, Constipation, Thrombocytopenia, Dysphagia, Visceral angiomatosis	ORPHA:666
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612926
Tetraamelia-Multiple Malformations Syndrome	Vaginal atresia, Aplasia/Hypoplasia of the nipples, Cryptorchidism	ORPHA:3301
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hyperammonemia, Acute hepatic steatosis	OMIM:210200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame...	OMIM:617021
Williams Syndrome	Nausea and vomiting, Cryptorchidism, Mitral regurgitation, Polycystic ovaries, Abdominal pain, Re...	ORPHA:904
Neuhauser Syndrome	Bifid uvula, High palate, Hypercholesterolemia, Dysphagia	OMIM:249310
Ablepharon-Macrostomia Syndrome	Absent eyelashes, Hypoplastic nipples, Hypoplastic labia majora, Ambiguous genitalia, Absent eyeb...	OMIM:200110
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Hepatic failure, Micronodular cirrhosis, Hepatocellular necrosis, Cholestasis, Acute hepatic fail...	OMIM:256810
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Acute leukemia, Testicular seminoma	ORPHA:281090
Spherocytosis, Type 4	Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia	OMIM:612653
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Hyperglycinemia, Hyperammonemia, Hyperglutamatemia, Hyperprolinemia, Low plasma citrulline, Hyper...	OMIM:620358
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol...	ORPHA:93111
Elliptocytosis 2	Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis	OMIM:130600
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Fulminant hepatic failure, Hepatic necrosis, Growth delay, Hepatic steatosis	OMIM:231530
Endometrial Cancer	Endometrial carcinoma	OMIM:608089
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Hepatic fibrosis, Exocrine pancreatic insufficiency, Postnatal growth retardation, Hepatic steato...	OMIM:616263
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Hyperbilirubinemia, Reticulocytosis, Macrocytic anemia, Aniso...	ORPHA:71275
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating glutaric acid concentration, Hepatic periportal necrosis, Hepatic steatosis,...	OMIM:231680
Mesomelic Dysplasia, Savarirayan Type	Supernumerary nipple	OMIM:605274
Immunodeficiency 25	Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia	OMIM:610163
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Abnormality of the uterus, Hypertrichosis, Pancreatic lymphangiectasis, Cryptorchidism, Abnormal ...	ORPHA:1655
Intrinsic Factor Deficiency	Absence of intrinsic factor	OMIM:261000
Xp21 Deletion Syndrome	Elevated circulating creatine kinase concentration, Hypertriglyceridemia	ORPHA:261476
Familial Pseudohyperkalemia	Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy...	ORPHA:90044
Megalocornea-Intellectual Disability Syndrome	High palate, Hypercholesterolemia	ORPHA:2479
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Joubert Syndrome 32	Frontal bossing, Molar tooth sign on MRI	OMIM:617757
Orthostatic Hypotension 2	Anemia, Orthostatic hypotension	OMIM:618182
Johanson-Blizzard Syndrome	Hypospadias, Clitoral hypertrophy, Small for gestational age, Failure to thrive, Fair hair, Septa...	OMIM:243800
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, High anterior hairline, Supernumerary nipple, Hypertrichosis, Cryptorchidism, Cho...	ORPHA:477993
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the scrotum, Uterine neoplasm, Abnormal bleeding, Anorexia, Elevated carcinoma antige...	ORPHA:370348
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Spl...	OMIM:612840
Pitt-Hopkins Syndrome	Failure to thrive, Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis	ORPHA:2896
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Molar tooth sign on MRI, Dextrocardia, Cleft...	ORPHA:220493
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI	OMIM:619111
Xeroderma Pigmentosum, Complementation Group A	Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Progeria-Short Stature-Pigmented Nevi Syndrome	Bifid uvula, Elevated circulating hepatic transaminase concentration, Microcytic anemia, Neoplasm...	ORPHA:2959
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis	OMIM:617441
Carpenter Syndrome 2	Highly arched eyebrow, Sparse eyebrow, Wide intermamillary distance, Bilateral cryptorchidism, Su...	OMIM:614976
Autoimmune Lymphoproliferative Syndrome	Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c...	ORPHA:3261
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Small for gestatio...	OMIM:300707
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ...	OMIM:201750
Renal Cysts And Diabetes Syndrome	Hypospadias, Maturity-onset diabetes of the young, Pancreatic hypoplasia, Pancreatic atrophy, Atr...	OMIM:137920
Pearson Syndrome	Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Hep...	ORPHA:699
Lumbar Syndrome	Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Hemangi...	ORPHA:83628
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis	Hemolytic anemia, Anemia of inadequate production, Elliptocytosis	OMIM:166910
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Ovarian cyst, Hirsutism, Enlarged polycystic ovaries, Increased serum t...	ORPHA:64739
Isolated Thyroid-Stimulating Hormone Deficiency	Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin concentration, Hypercholesterolem...	ORPHA:90674
H Syndrome	Microcytic anemia, Hepatosplenomegaly, Delayed puberty, Hypertriglyceridemia, Short stature, Hist...	ORPHA:168569
Congenital Disorder Of Glycosylation, Type Ia	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypoc...	OMIM:212065
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Highly arched eyebrow, Supernumerary nipple, Obesity, Cryptorchidism, Micropenis	OMIM:618653
Tangier Disease	Hypocholesterolemia, Hepatosplenomegaly, Hypertriglyceridemia	ORPHA:31150
Mandibuloacral Dysplasia With Type A Lipodystrophy	Hyperlipidemia, Hypercholesterolemia, Calcinosis, Hepatomegaly, High palate	OMIM:248370
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Gastroesophageal reflux, Anal fissure, Esophageal stricture, Ankyloglossia, Malnutrition, Feeding...	ORPHA:89842
Al-Gazali-Bakalinova Syndrome	Frontal bossing, Malar flattening, Molar tooth sign on MRI	OMIM:607131
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum	OMIM:140000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood...	OMIM:612925
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Primary Triglyceride Deposit Cardiomyovasculopathy	Hyperlipidemia, Increased muscle lipid content, Splenomegaly, Elevated circulating creatine kinas...	ORPHA:565612
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Oral leukoplakia, Premature graying of hair, Neoplasm, Nail...	ORPHA:3322
Currarino Syndrome	Presacral teratoma, Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Wide intermamillary distance, Uterus didelphys, Hamartoma of tongue, Septate vagina, Absent gallb...	OMIM:617925
Alstrom Syndrome	Elevated circulating hepatic transaminase concentration, Chronic active hepatitis, Hepatic steato...	OMIM:203800
Lipodystrophy, Congenital Generalized, Type 1	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:608594
Myasthenic Syndrome, Congenital, 21, Presynaptic	Meconium ileus, Feeding difficulties	OMIM:617239
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Increased circulating iron concentration, Increased circulating ferritin concentration, Hepatospl...	ORPHA:300298
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration	OMIM:617243
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Lymphocytosis, Anorexia, Anemia	ORPHA:514
Mirage Syndrome	Gastroesophageal reflux, Decreased testicular size, Lymphopenia, Leukopenia, Cryptorchidism, Chro...	OMIM:617053
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Highly arched eyebrow, Wide intermamillary distance, Supernumerary nipple, Decreased response to ...	OMIM:213980
Williams-Beuren Syndrome	Colonic diverticula, Gastroesophageal reflux, Premature graying of hair, Chronic constipation, Fe...	OMIM:194050
Bloom Syndrome	Lymphoma, Postnatal growth retardation, Intrauterine growth retardation, Hepatic steatosis, Squam...	OMIM:210900
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatosplenomegaly, Hypersplenism, Porta...	ORPHA:731
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Alagille Syndrome 1	Hepatic failure, Elevated circulating hepatic transaminase concentration, Cholestasis, Exocrine p...	OMIM:118450
Developmental And Epileptic Encephalopathy 50	Diarrhea, Acanthocytosis, Hyperammonemia, Schistocytosis, Anisopoikilocytosis, Anemia, Dysphagia	OMIM:616457
Joubert Syndrome 40	Molar tooth sign on MRI	OMIM:619582
Combined Oxidative Phosphorylation Deficiency 12	Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ...	OMIM:614924
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Intra...	OMIM:619487
Dyskeratosis Congenita, Autosomal Dominant 1	Sparse hair, Alopecia, Increased mean corpuscular volume, Aplastic anemia, Oral leukoplakia, Prem...	OMIM:127550
Hereditary Spherocytosis	Spontaneous hemolytic crises, Restrictive cardiomyopathy, Increased mean corpuscular hemoglobin c...	ORPHA:822
Joubert Syndrome 2	Hypoplasia of the brainstem, Brainstem dysplasia, Encephalocele, Elongated superior cerebellar pe...	OMIM:608091
Gaucher Disease, Type I	Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation...	OMIM:230800
Reynolds Syndrome	Gastrointestinal hemorrhage, Palmar telangiectasia, Lymphopenia, Splenomegaly, Lip telangiectasia...	OMIM:613471
Lipodystrophy, Congenital Generalized, Type 2	Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Splenomegaly, Cirrhos...	OMIM:269700
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Splenomegaly, Vasculitis in the skin, Anemia, Purpura	OMIM:620296
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Bardet-Biedl Syndrome 20	Pancreatitis, Elevated circulating hepatic transaminase concentration, Hypercholesterolemia	OMIM:619471
Au-Kline Syndrome	Wide intermamillary distance, Sparse lateral eyebrow, Failure to thrive, Supernumerary nipple, In...	OMIM:616580
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Molar tooth sign on MRI, Cleft palate	ORPHA:220497
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism	OMIM:601186
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Anemia, Pericarditis	ORPHA:163596
Manitoba Oculotrichoanal Syndrome	Vaginal atresia, Abnormality of the hairline	OMIM:248450
Tolchin-Le Caignec Syndrome	Hirsutism, Cardiac rhabdomyoma, Osteochondroma, Thick eyebrow	OMIM:618971
Shwachman-Diamond Syndrome 1	Persistence of hemoglobin F, Exocrine pancreatic insufficiency, Pancytopenia, Anemia, Acute myelo...	OMIM:260400
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal infarctions, N...	ORPHA:761
3-Methylglutaconic Aciduria Type 7	Infection associated neutropenia, Elevated circulating hepatic transaminase concentration, Hepati...	ORPHA:445038
Tetraamelia Syndrome 1	Vaginal atresia, Absent external genitalia, Adrenal gland agenesis, Hypoplasia of the fallopian tube	OMIM:273395
Sweet Syndrome	Inflammation of the large intestine, Neoplasm, Leukocytosis, Chronic lymphatic leukemia, Acute my...	ORPHA:3243
Chanarin-Dorfman Syndrome	Hepatomegaly, Hepatic steatosis	OMIM:275630
Fabry Disease	Atrioventricular block, Abnormal circulating lipid concentration, Congestive heart failure, Hyper...	ORPHA:324
Stormorken Syndrome	Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Elevated circulating ...	OMIM:185070
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the brainstem, Hamartoma of tongue, Occipital meningocele, Hydrocephalus, Molar too...	OMIM:616546
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Aganglionic megacolon, Encephalocele, Molar tooth sign on MRI	ORPHA:2318
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated ...	OMIM:277900
Doors Syndrome	Capillary hemangioma, Congenital hypothyroidism, Adrenal hyperplasia, Low anterior hairline, Ambi...	ORPHA:79500
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Wide intermamillary distance, Hypospadias, Failure to thrive, Supernumerary nipple	ORPHA:397715
3-Methylglutaconic Aciduria, Type Viib	Rhizomelia, Intrauterine growth retardation, Leukopenia, Hepatic steatosis, Neutropenia, Thromboc...	OMIM:616271
Mandibuloacral Dysplasia With Type B Lipodystrophy	High palate, Hyperlipidemia	OMIM:608612
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Waardenburg Syndrome, Type 1	Premature graying of hair, Thick eyebrow, White forelock, Aplasia of the vagina, White eyebrow, W...	OMIM:193500
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin	ORPHA:220295
Aromatase Deficiency	Hyperlipidemia, Hepatic steatosis	ORPHA:91
Combined Oxidative Phosphorylation Deficiency 27	Hyperammonemia, Microvesicular hepatic steatosis	OMIM:616672
Transcobalamin Ii Deficiency	Diarrhea, Vomiting, Pancytopenia, Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Hyp...	OMIM:275350
Fraser Syndrome 2	Intestinal malrotation, Low anterior hairline, Hypoplasia of the thymus, Rectal atresia, Abdomina...	OMIM:617666
Methylmalonic Aciduria, Cblb Type	Vomiting, Dilated cardiomyopathy, Elevated circulating propionylcarnitine concentration, Pancytop...	OMIM:251110
D-Bifunctional Protein Deficiency	Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome...	OMIM:261515
Joubert Syndrome 39	Hypoplastic left heart, Occipital encephalocele, Molar tooth sign on MRI	OMIM:619562
Pyropoikilocytosis, Hereditary	Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis	OMIM:266140
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Highly arched eyebrow, Microphallus, Supernumerary nipple, Cryptorchidism	OMIM:618454
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Abnormal circulating eicosanoid concentration, Decreased serum thromboxane B2, Decreased circulat...	OMIM:618372
Neurofibromatosis Type 1	Neoplasm of the skin, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Plexiform neurofibroma...	ORPHA:636
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration...	ORPHA:542323
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hyperbiliru...	OMIM:229600
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Supernumerary nipple	ORPHA:247262
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Dilated Cardiomyopathy With Ataxia	Elevated circulating hepatic transaminase concentration, Elevated circulating glutaric acid conce...	ORPHA:66634
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Hypertrichosis, Cryptorchidism, Ovarian cyst, Aplasia of t...	OMIM:614527
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Supernumerary nipple	ORPHA:457279
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI	OMIM:617127
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Lymphopenia, Leukopenia, Recurrent infection of the gastrointestinal tract, Elevated circulating ...	OMIM:301110
Leopard Syndrome 1	Delayed menarche, Cryptorchidism, Aplasia of the ovary, Hypoplasia of the ovary, Delayed puberty,...	OMIM:151100
Pearson Marrow-Pancreas Syndrome	Hypoplastic anemia, Hepatic failure, Vomiting, Exocrine pancreatic insufficiency, Sideroblastic a...	OMIM:557000
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Ungual fibroma, Pulmonary lymphangiomyomatosis, Renal angiomyolipoma...	ORPHA:538
Chromosome 13Q14 Deletion Syndrome	Micropenis, Retinoblastoma, Cryptorchidism, Supernumerary nipple	OMIM:613884
Combined Oxidative Phosphorylation Deficiency 37	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:618329
Good Syndrome	Thymoma, Diarrhea, Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Dysphagia	ORPHA:169105
Malakoplakia	Diarrhea, Neoplasm of the colon, Orchitis, Neoplasm of the rectum, Abdominal pain, Prostate neoplasm	ORPHA:556
Adams-Oliver Syndrome 1	Imperforate hymen, Alopecia, Supernumerary nipple	OMIM:100300
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Decreased liver functio...	OMIM:613658
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, Aplasia of th...	OMIM:276820
Focal Dermal Hypoplasia	Supernumerary nipple, Laryngeal papilloma, Cryptorchidism, Nail dystrophy, Hypoplastic nipples, P...	OMIM:305600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide intermamillary distance, External genital hypoplasia, Large for gestational age, Cryptorchid...	ORPHA:96334
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	High anterior hairline, Capillary hemangioma, Cryptorchidism, Supernumerary nipple	OMIM:619194
Mucopolysaccharidosis-Plus Syndrome	Hypoalbuminemia, Leukopenia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Hepatomegaly, M...	OMIM:617303
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Postnatal growth retardation, Hepatomega...	OMIM:619127
Mandibuloacral Dysplasia With Type A Lipodystrophy	High palate, Hyperlipidemia	ORPHA:90153
Retinitis Pigmentosa And Erythrocytic Microcytosis	Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ...	OMIM:616959
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Decreased testicular size, Hypoplasia of the ovary, Abdominal obesity, Micropenis	OMIM:619321
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Oliver Syndrome	Thick eyebrow, Supernumerary nipple	ORPHA:2920
Shwachman-Diamond Syndrome	Aplastic anemia, Hypopituitarism, Pancytopenia, Impaired neutrophil chemotaxis, Acute myeloid leu...	ORPHA:811
Garg-Mishra Progeroid Syndrome	Short stature, Postnatal growth retardation, Microvesicular hepatic steatosis	OMIM:620601
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI	OMIM:612291
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Calcinosis	ORPHA:90154
Coach Syndrome 1	Molar tooth sign on MRI, Occipital encephalocele, Encephalocele, Esophageal varix	OMIM:216360
Joubert Syndrome 10	Frontal bossing, Molar tooth sign on MRI	OMIM:300804
Bardet-Biedl Syndrome	Irregular menstruation, Aplasia/Hypoplasia of the vagina, Hydrometrocolpos, Hypogonadism, Decreas...	ORPHA:110
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Vaginal atresia, Hypoplastic labia majora, Fused labia minora	OMIM:207410
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Elevated circulating hepatic transaminase concentration, Esophagitis, Hepatic steatosis, Elevated...	OMIM:615356
Pallister-Hall Syndrome	Small scrotum, Hydrometrocolpos, Hypopituitarism, Central adrenal insufficiency, Cryptorchidism, ...	ORPHA:672
Agammaglobulinemia 1, Autosomal Recessive	B lymphocytopenia, Chronic diarrhea, Neutropenia, Rectal abscess	OMIM:601495
3-Hydroxy-3-Methylglutaric Aciduria	Elevated circulating hepatic transaminase concentration, Leukopenia, Leukocytosis, Hyperammonemia...	ORPHA:20
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Sparse eyelashes, Dystroph...	ORPHA:1071
Hereditary Elliptocytosis	Cholelithiasis, Neonatal hyperbilirubinemia, Stomatocytosis, Postnatal growth retardation, Hyperb...	ORPHA:288
Omenn Syndrome	Diarrhea, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymph...	OMIM:603554
Joubert Syndrome 28	Molar tooth sign on MRI	OMIM:617121
Duplication Of The Pituitary Gland	Abnormal midbrain morphology, Retrognathia, Brachyturricephaly, Encephalocele, Supernumerary tooth	ORPHA:314621
Menkes Disease	Sparse hair, Gastrointestinal hemorrhage, Spontaneous hematomas, Malabsorption, Nausea and vomiti...	ORPHA:565
Ataxia-Telangiectasia	Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count...	OMIM:208900
Joubert Syndrome 1	Hypoplasia of the brainstem, Occipital myelomeningocele, Brainstem dysplasia, Protruding tongue, ...	OMIM:213300
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	High, narrow palate, Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Hypertr...	ORPHA:369837
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration	ORPHA:85435
Imerslund-Grasbeck Syndrome 2	Anemia, Diarrhea, Megaloblastic anemia	OMIM:618882
Behçet Disease	Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Recurrent apht...	ORPHA:117
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hypoalbuminemia, Hyperlipidemia	ORPHA:567546
Leukocyte Adhesion Deficiency, Type I	Chronic diarrhea, Leukocytosis, Rectal abscess	OMIM:116920
Prader-Willi Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:176270
Meacham Syndrome	Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina	OMIM:608978
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Hypophosphatemic rickets, Pancreatic isl...	ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Micro...	OMIM:611126
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent infection of the gastrointestinal tract, Decreased proportion of naive T cells, Aplasia...	ORPHA:83471
Acute Liver Failure	Hypotension, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Abnormal bleeding, Bruising suscept...	ORPHA:90062
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Supernumerary nipple	ORPHA:1236
Multiple Endocrine Neoplasia, Type Iv	Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri...	OMIM:610755
Incontinentia Pigmenti	Alopecia, Verrucae, Dystrophic toenail, Supernumerary nipple, Abnormal hair morphology	ORPHA:464
Hydrolethalus Syndrome 1	Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology	OMIM:236680
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
22Q11.2 Deletion Syndrome	Hypertensive crisis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Intestinal malrotation...	ORPHA:567
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina	ORPHA:457284
Liver Disease, Severe Congenital	Portal inflammation, Hyperbilirubinemia, Hepatic steatosis, Abnormal hepatic echogenicity, Hepato...	OMIM:619991
Slc35A2-Cdg	Abnormal midbrain morphology, Abnormal heart morphology, Tetralogy of Fallot, Atrophy/Degeneratio...	ORPHA:356961
Microphthalmia, Syndromic 1	High, narrow palate, Cryptorchidism, Aganglionic megacolon, Anal atresia, High palate, Rectal pro...	OMIM:309800
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Simpson-Golabi-Behmel Syndrome	Supernumerary nipple, Neoplasm, Cryptorchidism, Pancreatic islet-cell hyperplasia, Nephroblastoma...	ORPHA:373
Classical-Like Ehlers-Danlos Syndrome Type 2	Narrow palate, High palate, Long uvula, Hypertriglyceridemia	ORPHA:536532
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Leukocytosis, Reticulocytosis, Microvesicular hepati...	OMIM:618278
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Acute Transverse Myelitis	Paralytic ileus, Gastroparesis, Constipation	ORPHA:139417
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Hepatic steatosis, Decreased liver function	OMIM:614922
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying of hair, Nail dystrophy, Thro...	OMIM:612199
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency	Abnormal circulating interleukin concentration	ORPHA:319552
Oligoarticular Juvenile Idiopathic Arthritis	Abnormal circulating interleukin concentration, Increased circulating interferon-gamma concentration	ORPHA:85410
Dyskeratosis Congenita, X-Linked	Alopecia, Oral leukoplakia, Premature graying of hair, Decreased testicular size, Pancytopenia, L...	OMIM:305000
Glycerol Kinase Deficiency	Hyperglycerolemia, Chronic pancreatitis, Hypertriglyceridemia	OMIM:307030
Microphthalmia With Linear Skin Defects Syndrome	Abnormal rectum morphology, Abnormality of the anus, Abnormal testis morphology, Abnormal eyelash...	ORPHA:2556
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Hamartoma of tongue, Molar tooth sign on MRI, High palate, Occipital meni...	OMIM:277170
Joubert Syndrome 6	Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ...	OMIM:610688
Orofaciodigital Syndrome Type 4	High, narrow palate, Bifid uvula, Decreased testicular size, Feeding difficulties, Perineal fistu...	ORPHA:2753
Acute Lung Injury	Increased circulating interleukin 6 concentration, Abnormal circulating cytokine concentration, A...	ORPHA:178320
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Splenomegaly, Hematemesis, Pancreatic cysts, Hypertension, Esophageal varix	OMIM:263200
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Failure to thrive, Bilateral cryptorchidism, Supernumerary nipple, Slender build, Cryptorchidism,...	ORPHA:466791
Adult Krabbe Disease	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal pons morphology	ORPHA:206448
Joubert Syndrome 22	Molar tooth sign on MRI	OMIM:615665
Nijmegen Breakage Syndrome	Anal stenosis, Glioma, Lymphoma, Rhabdomyosarcoma, Recurrent infection of the gastrointestinal tr...	OMIM:251260
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hamartoma of tongue, Encephalocele, Molar tooth sign on MRI, Stillbirth, Bifid tongue, Anal atres...	OMIM:616300
Joubert Syndrome 37	Frontal bossing, Molar tooth sign on MRI	OMIM:619185
Anemia, Congenital Dyserythropoietic, Type Iiia	Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production, Reduced haptog...	OMIM:105600
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Vaginal atresia, Hamartoma, Hydrometrocolpos	OMIM:617088
Agammaglobulinemia, X-Linked	Lymph node hypoplasia, B lymphocytopenia, Enteroviral hepatitis, Neutropenia, Anemia, T lymphocyt...	OMIM:300755
Mitochondrial Trifunctional Protein Deficiency	Cholestasis, Chronic hepatic failure, Hypocalcemia, Diffuse hepatic steatosis	ORPHA:746
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Inverted nipples, Hypothyroidism, Cryptorchidism, Supernumerary nipple	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Inverted nipples, Hypothyroidism, Cryptorchidism, Supernumerary nipple	ORPHA:352665
Dermatomyositis	Vasculitis, Abnormal eosinophil morphology, Alopecia, Sinus tachycardia, Lymphoma, Neoplasm, Lung...	ORPHA:221
Joubert Syndrome 35	Elongated superior cerebellar peduncle, Molar tooth sign on MRI	OMIM:618161
Joubert Syndrome 3	Elongated superior cerebellar peduncle, Atrial septal defect, Molar tooth sign on MRI	OMIM:608629
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair, Lymphopenia, Malabsorption, Aganglionic megacolon, Anemia	ORPHA:935
Schinzel-Giedion Syndrome	Central hypothyroidism, Annular pancreas, Failure to thrive in infancy, Streak ovary, Ependymoma,...	ORPHA:798
New-Onset Refractory Status Epilepticus	Abnormal circulating interleukin concentration	ORPHA:363558
Paroxysmal Nocturnal Hemoglobinuria	Decreased circulating iron concentration, Pulmonary embolism, Esophageal spasms, Budd-Chiari synd...	ORPHA:447
Proteasome-Associated Autoinflammatory Syndrome 1	Elevated circulating hepatic transaminase concentration, Parotitis, Decreased HDL cholesterol con...	OMIM:256040
Joubert Syndrome 30	Molar tooth sign on MRI	OMIM:617622
Chand Syndrome	Imperforate hymen, Curly hair	ORPHA:1401
Sporadic Infantile Bilateral Striatal Necrosis	Titubation, Abnormal posturing	ORPHA:225147
Steinert Myotonic Dystrophy	Abnormality of the tongue muscle, Neoplasm of the skin, Cholelithiasis, Elevated circulating hepa...	ORPHA:273
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Failure to thrive, Bifid scrotum, Septate vagina, Facial capil...	OMIM:270400
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Arterial rupture, Gastrointestinal hemorrhage, Bruising susceptibility, Congestive heart failure	OMIM:225400
Oculoectodermal Syndrome	Pineal cyst, Supernumerary nipple	OMIM:600268
17Q11 Microdeletion Syndrome	Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Hypertrophic cardiomyopath...	ORPHA:97685
3Mc Syndrome 1	Highly arched eyebrow, Synophrys, Supernumerary nipple	OMIM:257920
Cerebellar-Facial-Dental Syndrome	Abnormal midbrain morphology, Macrodontia of permanent maxillary central incisor, Dental malocclu...	ORPHA:444072
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Hypertrichosis, Neoplasm, Hypoplastic nipples, Delayed puberty, Curly hair, Cyst of the ductus ch...	ORPHA:480880
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Esophagitis, Neoplasm of the urethra, Squamous cell carcinom...	ORPHA:2908
Microphthalmia, Syndromic 2	Septate vagina, Adrenal insufficiency, Thick eyebrow, Cryptorchidism, Laterally curved eyebrow, D...	OMIM:300166
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Elevated circulating hepatic transaminase concentration, Gastroesophageal reflux, Hepatic steatos...	ORPHA:17
Vici Syndrome	Lymphopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, Median cleft palate...	OMIM:242840
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Hepatic steatosis	ORPHA:391665
Trichorhinophalangeal Syndrome, Type Ii	Multiple long-bone exostoses, Rib exostoses, Bilateral cryptorchidism, Thick eyebrow, Alopecia of...	OMIM:150230
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun...	OMIM:124000
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Biliary, Renal, Neurologic, And Skeletal Syndrome	Cholestasis, Hyperbilirubinemia, Congenital hepatic fibrosis, Cirrhosis, Elevated circulating ala...	OMIM:619534
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Nodular regenerative hyperplasia of liver, Hypotriglyceridemia, Elevated circulating hepatic tran...	ORPHA:404454
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Yellow Fever	Diarrhea, Vomiting, Abnormal bleeding, Shock, Reduced left ventricular ejection fraction, Leukocy...	ORPHA:99829
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Odontogenic neoplasm, Gastroesophageal reflux, Hyperaldosteronism, Benign n...	ORPHA:534
Orofaciodigital Syndrome Xvi	Retrognathia, Molar tooth sign on MRI	OMIM:617563
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Abnormal B cell morphology, Aplasia of the thymus, Glabellar hemangioma, Narrow palate, T lymphoc...	OMIM:618223
Sacral Defect With Anterior Meningocele	Sacral lipoma, Constipation, Rectal abscess	OMIM:600145
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
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Decreased liver function, Anemia, Increased intramyocellular lipid droplets, Hepatomegaly, High p...	OMIM:220110
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Squamous cell carcinoma of the skin, Alopecia, Nail dystrophy, Onychogryposis	ORPHA:79396
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphopenia, T lymphocytopenia, Lymphadenopathy, Neutropenia, Autoimmune thrombocytopenia	OMIM:607944
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Esophageal varix	OMIM:620367
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Elevated circulating hepatic transaminase concentration, Ganglioneuroblastoma, Hyperlipidemia, Ga...	ORPHA:293987
Arima Syndrome	Hepatic fibrosis, Hepatic steatosis, Anemia, Cirrhosis, Hepatomegaly, Growth delay, Esophageal varix	OMIM:243910
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Anemia, Decreased liver function, Diffuse hepatic steatosis	ORPHA:436271
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:233690
Lipodystrophy, Familial Partial, Type 7	Recurrent pancreatitis, Hypercholesterolemia, Dysphagia, Hypertriglyceridemia	OMIM:606721
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Capillary hemangioma, Decreased proportion of CD8-positive T cells, Lymphopenia, Hypereosinophili...	ORPHA:508533
Cimdag Syndrome	Hepatomegaly, Cholelithiasis, Microvesicular hepatic steatosis	OMIM:619273
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Hardikar Syndrome	Hepatic failure, Vomiting, Decreased liver function, Intestinal malrotation, Hepatosplenomegaly, ...	OMIM:301068
Turner Syndrome Due To Structural X Chromosome Anomalies	Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,...	ORPHA:99413
Mosaic Monosomy X	Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,...	ORPHA:99228
Monosomy X	Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,...	ORPHA:99226
Turner Syndrome	Aplasia/Hypoplasia of the nipples, Hyperinsulinemia, Type II diabetes mellitus, Inverted nipples,...	ORPHA:881
Apert Syndrome	Vaginal atresia, Cryptorchidism	OMIM:101200
Joubert Syndrome 5	Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle, Cleft p...	OMIM:610188
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating hepatic transaminase concentration, Increased hepatic echogenicity, Microcyt...	OMIM:619525
Peters-Plus Syndrome	Facial hypertrichosis, Wide intermamillary distance, Cryptorchidism, Decreased body weight, Hypop...	OMIM:261540
Fraser Syndrome 1	Clitoral hypertrophy, Wide intermamillary distance, Extension of hair growth on temples to latera...	OMIM:219000
8Q24.3 Microdeletion Syndrome	Gastrointestinal hemorrhage, Gastroesophageal reflux, Capillary hemangioma, Exocrine pancreatic i...	ORPHA:508488
Meckel Syndrome, Type 1	Occipital encephalocele, Intestinal malrotation, Large placenta, Hydrocephalus, Molar tooth sign ...	OMIM:249000
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Increased circulating interleukin 8 concentration, Reduced circulating interferon gamma concentra...	OMIM:301220
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, ...	OMIM:615948
Branchiooculofacial Syndrome	Wide intermamillary distance, Premature graying of hair, Supernumerary nipple, Ectopic thymus tis...	OMIM:113620
Peters Plus Syndrome	Wide intermamillary distance, Congenital hypothyroidism, Cryptorchidism, Hypoplasia of the uterus...	ORPHA:709
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Kid Syndrome	Neoplasm of the skin, Trichilemmoma, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Squamous c...	ORPHA:477
Fraser Syndrome	Small scrotum, Wide intermamillary distance, Abnormal vagina morphology, Female pseudohermaphrodi...	ORPHA:2052
Plague	Inflammation of the large intestine, Diarrhea, Hypotension, Vomiting, Abnormal bleeding, Splenome...	ORPHA:707
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Gastroesophageal reflux, Rectovestibular fistula, Fair hair, Feeding difficulties ...	ORPHA:280633
Intrahepatic Cholestasis Of Pregnancy	Abnormal circulating interleukin concentration	ORPHA:69665
Ogden Syndrome	Polycythemia, Postnatal growth retardation, Intrauterine growth retardation, Hyperbilirubinemia, ...	OMIM:300855
Holoprosencephaly 2	Alobar holoprosencephaly, Semilobar holoprosencephaly, Proboscis, Malar flattening, Aplasia of th...	OMIM:157170
Orofaciodigital Syndrome Type 6	Micrognathia, Biparietal narrowing, Molar tooth sign on MRI, Frontal bossing	ORPHA:2754
Granulomatous Disease, Chronic, X-Linked	Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess	OMIM:306400
Intellectual Developmental Disorder, Autosomal Dominant 68	Intrauterine growth retardation, High palate, Hepatic steatosis	OMIM:619934
Simpson-Golabi-Behmel Syndrome, Type 1	Wide intermamillary distance, Short nail, Supernumerary nipple, Hypertrichosis, Embryonal neoplas...	OMIM:312870
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Metachromatic Leukodystrophy	Abnormal stomach morphology, Abnormal duodenum morphology, Neoplasm of the gallbladder, Bowel inc...	ORPHA:512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Elevated circulating hepatic transaminase concentration, Short uvula, Neurof...	OMIM:619475
Mowat-Wilson Syndrome	Bifid scrotum, Supernumerary nipple, Cryptorchidism, Broad eyebrow, Hypospadias	OMIM:235730
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,...	OMIM:203700
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Lowe Oculocerebrorenal Syndrome	Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy...	OMIM:309000
Japanese Encephalitis	Abnormal midbrain morphology, Abnormal substantia nigra morphology, Abnormal pons morphology	ORPHA:79139
Saethre-Chotzen Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Plagiocephaly, ...	OMIM:101400
Pallister-Killian Syndrome	Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Obesit...	OMIM:601803
Penile Agenesis	Cryptorchidism, Anal atresia, Tracheoesophageal fistula, Rectal fistula, Anorectal anomaly	ORPHA:49
Igg4-Related Ophthalmic Disease	Lymphoma, Sialadenitis, Orchitis, Eosinophilia, Abnormality of the anterior pituitary, Non-Hodgki...	ORPHA:449563
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration, Hepatomegaly, H...	OMIM:300868
Wiedemann-Rautenstrauch Syndrome	Intrauterine growth retardation, Hepatic steatosis, Submucous cleft soft palate, Hypertriglycerid...	ORPHA:3455
Amoebiasis Due To Free-Living Amoebae	Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Sinusitis, Abnormal pons mor...	ORPHA:68
Joubert Syndrome 38	Frontal bossing, Molar tooth sign on MRI	OMIM:619476
1P36 Deletion Syndrome	Annular pancreas, Abnormality of the spleen, Abnormality of the liver, Hepatic steatosis, Abnorma...	ORPHA:1606
Neutrophilic Dermatosis, Acute Febrile	Increased circulating interleukin 6 concentration	OMIM:608068
Wiedemann-Rautenstrauch Syndrome	Short stature, Hypoplasia of the thymus, Intrauterine growth retardation, Hypertriglyceridemia	OMIM:264090
Digeorge Syndrome	High, narrow palate, Bifid uvula, Cholelithiasis, Hepatic steatosis, Splenomegaly, Hypocalcemia, ...	OMIM:188400
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Imperforate hymen, Hematocolpos, Cryptorchidism, Chordee, Hydrocele testis, Hypospadias	OMIM:619522
Exstrophy-Epispadias Complex	Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys...	ORPHA:322
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Ventricular septal defect, Molar tooth sign on MRI, Hypoplasia of the brainstem	OMIM:619306
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Anteriorly placed anus, Hyperammonemia, Microvesicular hepatic steatosis, Dysphagia, Increased he...	OMIM:220111
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypomagnesemia, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Portal hypertension, Hypocalc...	OMIM:619503
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Webbed penis, Failure to thrive, Bifid scrotum, Septate vagina, Cryptorchidism, Broad eyebrow, Ch...	ORPHA:261537
Mowat-Wilson Syndrome	Webbed penis, Horizontal eyebrow, Bifid scrotum, Septate vagina, Cryptorchidism, Decreased body w...	ORPHA:2152
Alström Syndrome	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastr...	ORPHA:64
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Webbed penis, Highly arched eyebrow, Failure to thrive, Bifid scrotum, Septate vagina, Cryptorchi...	ORPHA:261552
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Frontal bossing, Molar tooth sign on MRI	OMIM:619479
Unilateral Polymicrogyria	Abnormal posturing	ORPHA:268943
Orofaciodigital Syndrome Type 14	Trigonocephaly, Supernumerary tooth, Microretrognathia, Molar tooth sign on MRI	ORPHA:434179
Cenani-Lenz Syndrome	Abnormal dental enamel morphology, Frontal bossing, Malar flattening	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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